### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TPP1) # 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}}" "TPP1" "tripeptidyl peptidase I" "11" "p15.4" "unknown" "NG_008653.1" "UD_132118314343" "" "https://www.LOVD.nl/TPP1" "" "1" "2073" "1200" "607998" "1" "1" "1" "1" "Alias CLN2.\r\nAn NCL gene variant database.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/TPP1_codingDNA.html" "1" "" "An NCL gene variant database\r\n
\r\n
" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2017-04-03 14:42:47" "00000" "2026-01-20 18:57:21" ## 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}}" "00021697" "TPP1" "tripeptidyl peptidase I" "001" "NM_000391.3" "" "NP_000382.3" "" "" "" "-61" "3472" "1692" "6640692" "6633997" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01649" "CLN2" "lipofuscinosis, ceroid, neuronal, type 2 (CLN-2)" "AR" "204500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04201" "SCAR" "ataxia, spinocerebellar, autosomal recessive" "AR" "" "" "" "" "00006" "2015-02-20 09:53:55" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04233" "SCAR7" "ataxia, spinocerebellar, autosomal recessive, type 7 (SCAR-7)" "AR" "609270" "" "" "" "00006" "2015-03-31 18:04:40" "00006" "2021-12-10 21:51:32" "05258" "CLN" "lipofuscinosis, ceroid, neuronal (CLN)" "" "" "" "" "" "00006" "2017-04-03 15:00:30" "00006" "2017-04-04 08:43:07" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" "05793" "IMD74" "immunodeficiency, type 74, COVID19-related, X-linked" "XLR" "301051" "" "" "" "00006" "2020-07-24 22:16:50" "00006" "2025-08-26 15:50:59" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "TPP1" "01649" "TPP1" "04233" "TPP1" "05258" ## Individuals ## Do not remove or alter this header ## ## Count = 464 "{{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}}" "00080806" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected heterozygous carrier mother" "" "" "" "" "0" "" "" "" "" "00102749" "" "" "00102751" "1" "" "00006" "{PMID:Sun 2013:23418007}" "" "" "" "Netherlands" "" "0" "" "" "" "A-III.10_Sun_2013; REL12" "00102750" "" "" "00102751" "1" "" "00006" "{PMID:Sun 2013:23418007}" "carrier" "" "" "Netherlands" "" "0" "" "" "" "?" "00102751" "" "" "" "10" "" "00006" "{PMID:Sun 2013:23418007}" "" "" "" "Netherlands" "" "0" "" "" "" "A-III.2_Sun_2013; REL12" "00102752" "" "" "00102751" "1" "" "00006" "{PMID:Sun 2013:23418007}" "" "" "" "Netherlands" "" "0" "" "" "" "A-III.3_Sun_2013; REL12" "00102753" "" "" "00102751" "1" "" "00006" "{PMID:Sun 2013:23418007}" "carrier" "" "" "Netherlands" "" "0" "" "" "" "" "00102754" "" "" "00102751" "1" "" "00006" "{PMID:Sun 2013:23418007}" "carrier" "" "" "Netherlands" "" "0" "" "" "" "?" "00102755" "" "" "00102751" "1" "" "00006" "{PMID:Sun 2013:23418007}" "" "" "" "Netherlands" "" "0" "" "" "" "A-III.6_Sun_2013; REL12" "00102756" "" "" "00102751" "1" "" "00006" "{PMID:Sun 2013:23418007}" "carrier" "" "" "Netherlands" "" "0" "" "" "" "?" "00102757" "" "" "00102751" "1" "" "00006" "{PMID:Sun 2013:23418007}" "carrier" "" "" "Netherlands" "" "0" "" "" "" "?" "00102758" "" "" "00102751" "1" "" "00006" "{PMID:Sun 2013:23418007}" "" "" "" "Netherlands" "" "0" "" "" "" "A-III.9_Sun_2013; REL12" "00102759" "" "" "00102760" "1" "" "00006" "{PMID:Sun 2013:23418007}" "carrier" "" "" "Netherlands" "" "0" "" "" "" "?" "00102760" "" "" "" "2" "" "00006" "{PMID:Sun 2013:23418007}" "" "" "" "Netherlands" "" "0" "" "" "" "B-II.1_Sun_2013" "00102761" "" "" "" "1" "" "00011" "{PMID:Wisniewski 1998:9492089}" "" "" "" "United States" "" "0" "" "" "" "?" "00102762" "" "" "" "1" "" "00011" "{PMID:Wisniewski 1999:9492089}" "" "" "" "United States" "" "0" "" "" "" "?" "00102763" "" "" "" "1" "" "00011" "{PMID:Wisniewski 2000:9492089}" "" "" "" "United States" "" "0" "" "" "" "?" "00102764" "" "" "" "1" "" "00011" "{PMID:Wisniewski 2001:9492089}" "" "" "" "United States" "" "0" "" "" "" "?" "00102765" "" "" "" "1" "" "00011" "{PMID:Wisniewski 2001:9492089}" "" "" "" "United States" "" "0" "" "" "" "?" "00102766" "" "" "" "1" "" "00011" "{PMID:Wisniewski 2002:9492089}" "" "" "" "United States" "" "0" "" "" "" "?" "00102767" "" "" "" "1" "" "00011" "{PMID:Wisniewski 2003:9492089}" "" "" "" "United States" "" "0" "" "" "" "?" "00102768" "" "" "" "1" "" "00011" "{PMID:Wisniewski 2004:9492089}" "" "" "" "United States" "" "0" "" "" "" "?" "00102769" "" "" "" "1" "" "00011" "{PMID:Wisniewski 2005:9492089}" "" "" "" "United States" "" "0" "" "" "" "?" "00102770" "" "" "" "1" "" "00011" "{PMID:Wisniewski 2006:9492089}" "" "" "" "United States" "" "0" "" "" "" "?" "00102771" "" "" "" "1" "" "00011" "{PMID:Wisniewski 2007:9492089}" "" "" "" "United States" "" "0" "" "" "" "?" "00102772" "" "" "" "1" "" "00011" "{PMID:Wisniewski 2008:9492089}" "" "" "" "United States" "" "0" "" "" "" "?" "00102773" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "Italy" "" "0" "" "" "" "?" "00102774" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "" "" "0" "" "" "Spanish/French/English/Irish/American Indian" "?" "00102775" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "" "" "0" "" "" "Irish/American Indian/ German" "?" "00102776" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "Romania" "" "0" "" "" "" "10330339-Fam4 / CABM006" "00102777" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "Romania" "" "0" "" "" "" "10330339-Fam5 / IGF087/79" "00102778" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "Germany" "" "0" "" "" "" "?" "00102779" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "" "" "0" "" "" "" "?" "00102780" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "Mexico" "" "0" "" "" "" "?" "00102781" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "" "" "0" "" "" "England / Scottland" "?" "00102782" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "" "" "0" "" "" "England / Dutch" "?" "00102783" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "" "" "0" "" "" "German / English" "?" "00102784" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "" "" "0" "" "" "German / English" "?" "00102785" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "" "" "0" "" "" "England / Ireland" "?" "00102786" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "" "" "0" "" "" "Swedish-English-Irish/Scottish-Irish-Norwegian" "?" "00102787" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "Germany" "" "0" "" "" "" "?" "00102788" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "" "" "0" "" "" "Scottland-Ireland" "?" "00102789" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "" "" "0" "" "" "English-Irish / English-Swedish" "?" "00102790" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "" "" "0" "" "" "English-Irish / German-Indian" "?" "00102791" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "England" "?" "00102792" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "Canada" "" "0" "" "" "" "?" "00102793" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "" "" "0" "" "" "England / Germany" "?" "00102794" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "" "" "0" "" "" "Germany / Irland-Scottland" "?" "00102795" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "" "" "0" "" "" "German-Czech/canadian-North American Indian" "?" "00102796" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "Denmark" "" "0" "" "" "" "?" "00102797" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "" "" "0" "" "" "Northern European" "?" "00102798" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "" "" "0" "" "" "England / Scottland" "?" "00102799" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "" "" "0" "" "" "England-Ireland-Scottland" "?" "00102800" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "" "" "0" "" "" "England-Ireland-American Indian" "?" "00102801" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "" "" "0" "" "" "French-Irish-German" "?" "00102802" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "" "" "0" "" "" "Irish-Scottish-English" "?" "00102803" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "" "" "0" "" "" "England / Scottland" "?" "00102804" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "" "" "0" "" "" "France / Italy" "?" "00102805" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "" "" "0" "" "" "Finnish-Swedish-Norwegian/English-Scottish" "?" "00102806" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "" "" "0" "" "" "" "?" "00102807" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "" "" "0" "" "" "" "?" "00102808" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "Denmark" "" "0" "" "" "" "?" "00102809" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "" "" "0" "" "" "French-German-Irish-Scottish-English" "?" "00102810" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "" "" "0" "" "" "Czech-Ukranian-Welsh" "?" "00102811" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "" "" "0" "" "" "Polish/Swedish-French-Bohemian" "?" "00102812" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "" "" "0" "" "" "Poland-Germany/Norway" "?" "00102813" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "Poland" "" "0" "" "" "" "?" "00102814" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "" "" "0" "" "" "Norway-Germany-Poland" "?" "00102815" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "Italy" "" "0" "" "" "" "?" "00102816" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "" "" "0" "" "" "English-German/Hungarian-Polish-Russian" "?" "00102817" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "" "" "0" "" "" "Poland-Germany" "?" "00102818" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "Mexico" "" "0" "" "" "" "?" "00102819" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "" "" "0" "" "" "England / Ireland" "?" "00102820" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "" "" "0" "" "" "Germany-Ireland-Poland-England" "?" "00102821" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "" "" "0" "" "" "" "?" "00102822" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "" "" "0" "" "" "" "?" "00102823" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "Italy" "" "0" "" "" "" "?" "00102824" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "England" "?" "00102825" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "" "" "0" "" "" "" "?" "00102826" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "" "" "0" "" "" "" "?" "00102827" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "" "" "0" "" "" "" "?" "00102828" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "Spain" "" "0" "" "" "" "?" "00102829" "" "" "" "1" "" "00011" "{PMID:Sleat 1999:10330339}" "" "" "" "" "" "0" "" "" "Romania/Canada" "?" "00102830" "" "" "" "1" "" "00011" "{PMID:Hartikainen 1999:10356316}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/sisters" "F" "no" "United States" "" "0" "" "" "Scottland - Ireland- England" "10356316-Pat1" "00102831" "" "" "" "1" "" "00011" "{PMID:Hartikainen 1999:10356316}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Lebanon" "" "0" "" "" "" "10356316-Pat2" "00102832" "" "" "" "1" "" "00011" "{PMID:Zhong 2000:11339651}" "" "" "" "United States" "" "0" "" "" "" "?" "00102833" "" "" "" "1" "" "00011" "{PMID:Zhong 2000:11339651}" "" "" "" "United States" "" "0" "" "" "" "?" "00102834" "" "" "" "1" "" "00011" "{PMID:Zhong 2000:11339651}" "" "" "" "United States" "" "0" "" "" "" "?" "00102835" "" "" "" "1" "" "00011" "{PMID:Zhong 2000:11339651}" "" "" "" "United States" "" "0" "" "" "" "?" "00102836" "" "" "" "1" "" "00011" "{PMID:Zhong 2000:11339651}" "" "" "" "United States" "" "0" "" "" "" "?" "00102837" "" "" "" "1" "" "00011" "{PMID:Zhong 2000:11339651}" "" "" "" "United States" "" "0" "" "" "" "?" "00102838" "" "" "" "1" "" "00011" "{PMID:Zhong 2000:11339651}" "" "" "" "United States" "" "0" "" "" "" "?" "00102839" "" "" "" "1" "" "00011" "{PMID:Simonati 2000:11071145}" "" "" "" "Italy" "" "0" "" "" "" "?" "00102840" "" "" "" "1" "" "00011" "{PMID:Berry-Kravis 2000:10665500}" "" "" "" "" "" "0" "" "" "European / Native American" "?" "00102841" "" "" "" "1" "" "00011" "{PMID:Berry-Kravis 2000:10665500}" "" "" "" "Turkey" "" "0" "" "" "" "?" "00102842" "" "" "" "1" "" "00011" "{PMID:Tessa 2000:10862088}" "" "" "" "Italy" "" "0" "" "" "" "?" "00102843" "" "" "" "1" "" "00011" "{PMID:Tessa 2000:10862088}" "sibs" "" "" "Italy" "" "0" "" "" "" "?" "00102844" "" "" "" "1" "" "00011" "{PMID:Tessa 2000:10862088}" "" "" "" "Italy" "" "0" "" "" "" "?" "00102845" "" "" "" "1" "" "00011" "{PMID:Lam 2001:11241479}" "" "" "" "China" "" "0" "" "" "" "?" "00102846" "" "" "" "1" "" "00011" "{PMID:Steinfeld 2002:12376936}" "" "" "" "Germany" "" "0" "" "" "" "?" "00102847" "" "" "" "1" "" "00011" "{PMID:Steinfeld 2002:12376936}" "" "" "" "Germany" "" "0" "" "" "" "?" "00102848" "" "" "" "1" "" "00011" "{PMID:Steinfeld 2002:12376936}" "" "" "" "Germany" "" "0" "" "" "" "?" "00102849" "" "" "" "1" "" "00011" "{PMID:Steinfeld 2002:12376936}" "" "" "" "Germany" "" "0" "" "" "" "?" "00102850" "" "" "" "1" "" "00011" "{PMID:Steinfeld 2002:12376936}" "" "" "" "Germany" "" "0" "" "" "" "?" "00102851" "" "" "" "1" "" "00011" "{PMID:Steinfeld 2002:12376936}" "" "" "" "Germany" "" "0" "" "" "" "?" "00102852" "" "" "" "1" "" "00011" "{PMID:Steinfeld 2002:12376936}" "" "" "" "Germany" "" "0" "" "" "" "?" "00102853" "" "" "" "1" "" "00011" "{PMID:Steinfeld 2002:12376936}" "" "" "" "Germany" "" "0" "" "" "" "?" "00102854" "" "" "" "1" "" "00011" "{PMID:Steinfeld 2002:12376936}" "" "" "" "Germany" "" "0" "" "" "" "?" "00102855" "" "" "" "1" "" "00011" "{PMID:Steinfeld 2002:12376936}" "" "" "" "Germany" "" "0" "" "" "" "?" "00102856" "" "" "" "1" "" "00011" "{PMID:Steinfeld 2002:12376936}" "" "" "" "Germany" "" "0" "" "" "" "?" "00102857" "" "" "" "1" "" "00011" "{PMID:Steinfeld 2002:12376936}" "" "" "" "Germany" "" "0" "" "" "" "?" "00102858" "" "" "" "1" "" "00011" "{PMID:Steinfeld 2002:12376936}" "" "" "" "Germany" "" "0" "" "" "" "?" "00102859" "" "" "" "1" "" "00011" "{PMID:Steinfeld 2002:12376936}" "" "" "" "Germany" "" "0" "" "" "" "?" "00102860" "" "" "" "1" "" "00011" "{PMID:Steinfeld 2002:12376936}" "" "" "" "Germany" "" "0" "" "" "" "?" "00102861" "" "" "" "1" "" "00011" "{PMID:Steinfeld 2002:12376936}" "" "" "" "Germany" "" "0" "" "" "" "?" "00102862" "" "" "" "1" "" "00011" "{PMID:Steinfeld 2002:12376936}" "" "" "" "Germany" "" "0" "" "" "" "?" "00102863" "" "" "" "1" "" "00011" "{PMID:Steinfeld 2002:12376936}" "" "" "" "Germany" "" "0" "" "" "" "?" "00102864" "" "" "" "1" "" "00011" "{PMID:Steinfeld 2002:12376936}" "" "" "" "Germany" "" "0" "" "" "" "?" "00102865" "" "" "" "1" "" "00011" "{PMID:Steinfeld 2002:12376936}" "" "" "" "Germany" "" "0" "" "" "" "?" "00102866" "" "" "" "1" "" "00011" "{PMID:Steinfeld 2002:12376936}" "" "" "" "Germany" "" "0" "" "" "" "?" "00102867" "" "" "" "1" "" "00011" "{PMID:Steinfeld 2002:12376936}" "" "" "" "Germany" "" "0" "" "" "" "?" "00102868" "" "" "" "1" "" "00011" "{PMID:Ju 2002:12414822}" "" "" "" "Canada" "" "0" "" "" "" "?" "00102869" "" "" "" "1" "" "00011" "{PMID:Ju 2002:12414822}" "" "" "" "Canada" "" "0" "" "" "" "?" "00102870" "" "" "" "1" "" "00011" "{PMID:Ju 2002:12414822}" "" "" "" "Canada" "" "0" "" "" "" "?" "00102871" "" "" "" "1" "" "00011" "{PMID:Ju 2002:12414822}" "" "" "" "Canada" "" "0" "" "" "" "?" "00102872" "" "" "" "1" "" "00011" "{PMID:Ju 2002:12414822}" "" "" "" "Canada" "" "0" "" "" "" "?" "00102873" "" "" "" "1" "" "00011" "{PMID:Ju 2002:12414822}" "" "" "" "Canada" "" "0" "" "" "" "?" "00102874" "" "" "" "1" "" "00011" "{PMID:Ju 2002:12414822}" "" "" "" "Canada" "" "0" "" "" "" "?" "00102875" "" "" "" "1" "" "00011" "{PMID:Ju 2002:12414822}" "" "" "" "Canada" "" "0" "" "" "" "?" "00102876" "" "" "" "1" "" "00011" "{PMID:Ju 2002:12414822}" "" "" "" "Canada" "" "0" "" "" "" "?" "00102877" "" "" "" "1" "" "00011" "{PMID:Ju 2002:12414822}" "" "" "" "Canada" "" "0" "" "" "" "?" "00102878" "" "" "" "1" "" "00011" "{PMID:Ju 2002:12414822}" "" "" "" "Canada" "" "0" "" "" "" "?" "00102879" "" "" "" "1" "" "00011" "{PMID:Ju 2002:12414822}" "" "" "" "Canada" "" "0" "" "" "" "?" "00102880" "" "" "" "1" "" "00011" "{PMID:Ju 2002:12414822}" "" "" "" "Canada" "" "0" "" "" "" "?" "00102881" "" "" "" "1" "" "00011" "{PMID:Ju 2002:12414822}" "" "" "" "Canada" "" "0" "" "" "" "?" "00102882" "" "" "" "1" "" "00011" "{PMID:Ju 2002:12414822}" "" "" "" "Canada" "" "0" "" "" "" "?" "00102883" "" "" "" "1" "" "00011" "{PMID:Ju 2002:12414822}" "" "" "" "Canada" "" "0" "" "" "" "?" "00102884" "" "" "" "1" "" "00011" "{PMID:Ju 2002:12414822}" "" "" "" "Canada" "" "0" "" "" "" "?" "00102885" "" "" "" "1" "" "00011" "{PMID:Ju 2002:12414822}" "" "" "" "Canada" "" "0" "" "" "" "?" "00102886" "" "" "" "1" "" "00011" "{PMID:Ju 2002:12414822}" "" "" "" "Canada" "" "0" "" "" "" "?" "00102887" "" "" "" "1" "" "00011" "{PMID:Ju 2002:12414822}" "" "" "" "Canada" "" "0" "" "" "" "?" "00102888" "" "" "" "1" "" "00011" "{PMID:Lavrov 2002:12363103}" "" "" "" "Russian Federation" "" "0" "" "" "" "?" "00102889" "" "" "" "1" "" "00011" "{PMID:Lavrov 2002:12363103}" "" "" "" "Russian Federation" "" "0" "" "" "" "?" "00102890" "" "" "" "1" "" "00011" "{PMID:Lavrov 2002:12363103}" "" "" "" "Russian Federation" "" "0" "" "" "" "?" "00102891" "" "" "" "1" "" "00011" "{PMID:Kohan 2008:20960655}" "" "" "" "Argentina" "" "0" "" "" "" "?" "00102892" "" "" "" "1" "" "00011" "{PMID:Teixeira 2003b:12796825}" "" "" "" "Portugal" "" "0" "" "" "" "?" "00102893" "" "" "" "1" "" "00011" "{PMID:Koul 2007:17690061}" "sibs" "" "" "Oman" "" "0" "" "" "" "?" "00102894" "" "" "" "1" "" "00011" "{PMID:Koul 2007:17690061}" "" "" "" "Oman" "" "0" "" "" "" "?" "00102895" "" "" "" "1" "" "00011" "{PMID:Koul 2007:17690061}" "" "" "" "Oman" "" "0" "" "" "" "?" "00102896" "" "" "" "1" "" "00011" "{PMID:Koul 2007:17690061}" "sibs" "" "" "Oman" "" "0" "" "" "" "?" "00102897" "" "" "" "1" "" "00011" "{PMID:Koul 2007:17690061}" "" "" "" "Oman" "" "0" "" "" "" "?" "00102898" "" "" "" "1" "" "00011" "{PMID:Moore 2008:18684116}" "sibs" "" "" "Canada" "" "0" "" "" "Newfoundland" "?" "00102899" "" "" "" "1" "" "00011" "{PMID:Moore 2008:18684116}" "" "" "" "Canada" "" "0" "" "" "Newfoundland" "?" "00102900" "" "" "" "1" "" "00011" "{PMID:Moore 2008:18684116}" "" "" "" "Canada" "" "0" "" "" "Newfoundland" "?" "00102901" "" "" "" "1" "" "00011" "{PMID:Moore 2008:18684116}" "sibs" "" "" "Canada" "" "0" "" "" "Newfoundland" "?" "00102902" "" "" "" "1" "" "00011" "{PMID:Moore 2008:18684116}" "" "" "" "Canada" "" "0" "" "" "Newfoundland" "?" "00102903" "" "" "" "1" "" "00011" "{PMID:Moore 2008:18684116}" "" "" "" "Canada" "" "0" "" "" "Newfoundland" "?" "00102904" "" "" "" "1" "" "00011" "{PMID:Moore 2008:18684116}" "" "" "" "Canada" "" "0" "" "" "Newfoundland" "?" "00102905" "" "" "" "1" "" "00011" "{PMID:Moore 2008:18684116}" "" "" "" "Canada" "" "0" "" "" "Newfoundland" "?" "00102906" "" "" "" "1" "" "00011" "{PMID:Moore 2008:18684116}" "" "" "" "Canada" "" "0" "" "" "Newfoundland" "?" "00102907" "" "" "" "1" "" "00011" "{PMID:Moore 2008:18684116}" "" "" "" "Canada" "" "0" "" "" "Newfoundland" "?" "00102908" "" "" "" "1" "" "00011" "{PMID:Moore 2008:18684116}" "" "" "" "Canada" "" "0" "" "" "Newfoundland" "?" "00102909" "" "" "" "1" "" "00011" "{PMID:Moore 2008:18684116}" "" "" "" "Canada" "" "0" "" "" "Newfoundland" "?" "00102910" "" "" "" "1" "" "00011" "{PMID:Moore 2008:18684116}" "" "" "" "Canada" "" "0" "" "" "Newfoundland" "?" "00102911" "" "" "" "1" "" "00011" "{PMID:Moore 2008:18684116}" "" "" "" "Canada" "" "0" "" "" "Newfoundland" "?" "00102912" "" "" "" "1" "" "00011" "{PMID:Moore 2008:18684116}" "sibs" "" "" "Canada" "" "0" "" "" "Newfoundland" "?" "00102913" "" "" "" "1" "" "00011" "{PMID:Moore 2008:18684116}" "" "" "" "Canada" "" "0" "" "" "Newfoundland" "?" "00102914" "" "" "" "1" "" "00011" "{PMID:Moore 2008:18684116}" "" "" "" "Canada" "" "0" "" "" "Newfoundland" "?" "00102915" "" "" "" "1" "" "00011" "{PMID:Moore 2008:18684116}" "" "" "" "Canada" "" "0" "" "" "Newfoundland" "?" "00102916" "" "" "" "1" "" "00011" "{PMID:Moore 2008:18684116}" "" "" "" "Canada" "" "0" "" "" "Newfoundland" "?" "00102917" "" "" "" "1" "" "00011" "{PMID:Moore 2008:18684116}" "" "" "" "Canada" "" "0" "" "" "Newfoundland" "?" "00102918" "" "" "" "1" "" "00011" "{PMID:Moore 2008:18684116}" "" "" "" "Canada" "" "0" "" "" "Newfoundland" "?" "00102919" "" "" "" "1" "" "00011" "{PMID:Moore 2008:18684116}" "sibs" "" "" "Canada" "" "0" "" "" "Newfoundland" "?" "00102920" "" "" "" "1" "" "00011" "{PMID:Moore 2008:18684116}" "" "" "" "Canada" "" "0" "" "" "Newfoundland" "?" "00102921" "" "" "" "1" "" "00011" "{PMID:Bessa 2008:17959406}" "" "" "" "Portugal" "" "0" "" "" "" "?" "00102922" "" "" "" "1" "" "00011" "{PMID:Elleder 2008:18283468}" "" "" "" "Czech Republic" "" "0" "" "" "" "?" "00102923" "" "" "" "1" "" "00011" "{PMID:Kousi 2009:19201763}" "" "" "" "Turkey" "" "0" "" "" "" "?" "00102924" "" "" "" "1" "" "00011" "{PMID:Kousi 2009:19201763}" "" "" "" "Turkey" "" "0" "" "" "" "?" "00102932" "" "" "" "1" "" "00011" "{PMID:Goldberg-Stern 2009:19748052}" "" "" "" "Israel" "" "0" "" "" "Arab" "?" "00102933" "" "" "" "1" "" "00011" "{PMID:Goldberg-Stern 2009:19748052}" "sibs" "" "" "Israel" "" "0" "" "" "Arab" "?" "00102934" "" "" "" "1" "" "00011" "{PMID:Wang 2011:20820830}" "" "" "" "China" "" "0" "" "" "" "?" "00102935" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Spain" "" "0" "" "" "" "?" "00102936" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Spain" "" "0" "" "" "" "?" "00102937" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Spain" "" "0" "" "" "" "?" "00102938" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Portugal" "" "0" "" "" "" "?" "00102939" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Portugal" "" "0" "" "" "" "?" "00102940" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Slovakia (Slovak Republic)" "" "0" "" "" "" "?" "00102941" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Czech Republic" "" "0" "" "" "" "?" "00102942" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Slovakia (Slovak Republic)" "" "0" "" "" "" "?" "00102943" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Czech Republic" "" "0" "" "" "" "?" "00102944" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Slovakia (Slovak Republic)" "" "0" "" "" "" "?" "00102945" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Slovakia (Slovak Republic)" "" "0" "" "" "" "?" "00102946" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Czech Republic" "" "0" "" "" "" "?" "00102947" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Czech Republic" "" "0" "" "" "" "?" "00102948" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Czech Republic" "" "0" "" "" "" "?" "00102949" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Brazil" "" "0" "" "" "" "?" "00102950" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Czech Republic" "" "0" "" "" "" "?" "00102951" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Slovakia (Slovak Republic)" "" "0" "" "" "" "?" "00102952" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Czech Republic" "" "0" "" "" "" "?" "00102953" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Czech Republic" "" "0" "" "" "" "?" "00102954" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Hungary" "" "0" "" "" "" "?" "00102955" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Slovakia (Slovak Republic)" "" "0" "" "" "" "?" "00102956" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Turkey" "" "0" "" "" "" "?" "00102957" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Italy" "" "0" "" "" "" "?" "00102958" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Italy" "" "0" "" "" "" "?" "00102959" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Italy" "" "0" "" "" "" "?" "00102960" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Italy" "" "0" "" "" "" "?" "00102961" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00102962" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00102963" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00102964" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00102965" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00102966" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "sibs" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00102967" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00102968" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00102969" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00102970" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00102971" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00102972" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00102973" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00102974" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00102975" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00102976" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00102977" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00102978" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00102979" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00102980" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00102981" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00102982" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00102983" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00102984" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00102985" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00102986" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00102987" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00102988" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00102989" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00102990" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00102991" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00102992" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00102993" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00102994" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00102995" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Turkey" "" "0" "" "" "" "?" "00102996" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Turkey" "" "0" "" "" "" "?" "00102997" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "sibs" "" "" "Turkey" "" "0" "" "" "" "?" "00102998" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Turkey" "" "0" "" "" "" "?" "00102999" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Turkey" "" "0" "" "" "" "?" "00103000" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Turkey" "" "0" "" "" "" "?" "00103001" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Turkey" "" "0" "" "" "" "?" "00103002" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Turkey" "" "0" "" "" "" "?" "00103003" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Turkey" "" "0" "" "" "" "?" "00103004" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Serbia" "" "0" "" "" "" "?" "00103005" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Netherlands" "" "0" "" "" "" "?" "00103006" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Sweden" "" "0" "" "" "" "?" "00103007" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "South Africa" "" "0" "" "" "" "?" "00103008" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Belgium" "" "0" "" "" "" "?" "00103009" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "" "" "0" "" "" "South Africa / The Netherlands" "?" "00103010" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Sweden" "" "0" "" "" "" "?" "00103011" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Netherlands" "" "0" "" "" "" "?" "00103012" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Turkey" "" "0" "" "" "" "?" "00103013" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Netherlands" "" "0" "" "" "" "?" "00103014" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00103015" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00103016" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Romania" "" "0" "" "" "" "?" "00103017" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Turkey" "" "0" "" "" "" "?" "00103018" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Netherlands" "" "0" "" "" "" "?" "00103019" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Hungary" "" "0" "" "" "" "?" "00103020" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Sweden" "" "0" "" "" "" "?" "00103021" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Canada" "" "0" "" "" "" "?" "00103022" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "United States" "" "0" "" "" "" "?" "00103023" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Canada" "" "0" "" "" "" "?" "00103024" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Canada" "" "0" "" "" "" "?" "00103025" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Canada" "" "0" "" "" "" "?" "00103026" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Canada" "" "0" "" "" "" "?" "00103027" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Canada" "" "0" "" "" "" "?" "00103028" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "United States" "" "0" "" "" "" "?" "00103029" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Russian Federation" "" "0" "" "" "" "?" "00103030" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Russian Federation" "" "0" "" "" "" "?" "00103031" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Netherlands" "" "0" "" "" "" "?" "00103032" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Canada" "" "0" "" "" "" "?" "00103033" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Ireland" "" "0" "" "" "" "?" "00103034" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Russian Federation" "" "0" "" "" "" "?" "00103035" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Russian Federation" "" "0" "" "" "" "?" "00103036" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "United States" "" "0" "" "" "" "?" "00103037" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "United States" "" "0" "" "" "" "?" "00103038" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Spain" "" "0" "" "" "" "?" "00103039" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "United States" "" "0" "" "" "" "?" "00103040" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Russian Federation" "" "0" "" "" "" "?" "00103041" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "France" "" "0" "" "" "" "?" "00103042" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "United States" "" "0" "" "" "" "?" "00103043" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Ireland" "" "0" "" "" "" "?" "00103044" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Russian Federation" "" "0" "" "" "" "?" "00103045" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Czech Republic" "" "0" "" "" "" "?" "00103046" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Ireland" "" "0" "" "" "" "?" "00103047" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "France" "" "0" "" "" "" "?" "00103048" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Russian Federation" "" "0" "" "" "" "?" "00103049" "" "" "" "1" "" "00011" "Caillaud, ASHG 1999, ABS 1287" "" "" "" "France" "" "0" "" "" "" "?" "00103050" "" "" "" "1" "" "00011" "Caillaud, ASHG 1999, ABS 1287" "" "" "" "France" "" "0" "" "" "" "?" "00103051" "" "" "" "1" "" "00011" "Caillaud, ASHG 1999, ABS 1287" "" "" "" "France" "" "0" "" "" "" "?" "00103052" "" "" "" "1" "" "00011" "Caillaud, ASHG 1999, ABS 1287" "" "" "" "France" "" "0" "" "" "" "?" "00103053" "" "" "" "1" "" "00011" "Caillaud, ASHG 1999, ABS 1287" "" "" "" "France" "" "0" "" "" "" "?" "00103054" "" "" "" "1" "" "00011" "Caillaud 2000:ashg.org/genetics/abstracts/abs99/f1287.htm" "" "" "" "France" "" "0" "" "" "" "?" "00103055" "" "" "" "1" "" "00011" "{PMID:Mole 2002:11589012}" "" "" "" "" "" "0" "" "" "African" "?" "00103056" "" "" "" "1" "" "00011" "Franken, ASHG 1999, ABS 1307" "" "" "" "Netherlands" "" "0" "" "" "" "?" "00103057" "" "" "" "1" "" "00011" "Franken, ASHG 1999, ABS 1307" "" "" "" "Netherlands" "" "0" "" "" "" "?" "00103058" "" "" "" "1" "" "00011" "Franken, ASHG 1999, ABS 1307" "" "" "" "Netherlands" "" "0" "" "" "" "?" "00103059" "" "" "" "1" "" "00011" "Franken, ASHG 1999, ABS 1307" "" "" "" "Netherlands" "" "0" "" "" "" "?" "00103060" "" "" "" "1" "" "00011" "Franken, ASHG 1999, ABS 1307" "" "" "" "Netherlands" "" "0" "" "" "" "?" "00103061" "" "" "" "1" "" "00011" "Franken, ASHG 1999, ABS 1307" "" "" "" "Netherlands" "" "0" "" "" "" "?" "00103062" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "United States" "" "0" "" "" "" "?" "00103063" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "United States" "" "0" "" "" "" "?" "00103064" "" "" "" "1" "" "00011" "{PMID:Noher de Halac 2005}" "" "" "" "Argentina" "" "0" "" "" "" "?" "00103065" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Russian Federation" "" "0" "" "" "" "?" "00103066" "" "" "" "1" "" "00011" "{PMID:Chang et al2012:22245569}" "" "" "" "China" "" "0" "" "" "" "?" "00103067" "" "" "" "1" "" "00011" "{PMID:Chang et al2012:22245569}" "" "" "" "China" "" "0" "" "" "" "?" "00103068" "" "" "" "1" "" "00011" "{PMID:Chang et al2012:22245569}" "" "" "" "China" "" "0" "" "" "" "?" "00103069" "" "" "" "1" "" "00011" "{PMID:Chang et al2012:22245569}" "" "" "" "China" "" "0" "" "" "" "?" "00103070" "" "" "" "1" "" "00011" "{PMID:Chang et al2012:22245569}" "" "" "" "China" "" "0" "" "" "" "?" "00103071" "" "" "" "1" "" "00011" "{PMID:Minh et al2012:21940688}" "" "" "" "" "" "0" "" "" "Slavic, Irish, German" "?" "00103072" "" "" "" "1" "" "00011" "" "from NCL database, not in papers indicated" "" "" "" "" "0" "" "" "" "?" "00103081" "" "" "" "1" "" "00006" "{PMID:Sleat 1999:10330339}" "analysis 82 unrelated individuals" "" "" "United States" "" "0" "" "" "" "10330339_cases" "00103082" "" "" "" "1" "" "00006" "{PMID:Sleat 1999:10330339}" "analysis 126 unrelated individuals" "" "" "United States" "" "0" "" "" "" "10330339-cases" "00103083" "" "" "" "1" "" "00006" "{PMID:Sleat 1999:10330339}" "analysis 56 unrelated individuals" "" "" "United States" "" "0" "" "" "" "10330339-cases" "00103085" "" "" "" "1" "" "00006" "{PMID:Sleat 1999:10330339}" "analysis 90 unrelated individuals" "" "" "United States" "" "0" "" "" "" "10330339-cases" "00103086" "" "" "" "1" "" "00006" "{PMID:Sleat 1999:10330339}" "analysis 92 unrelated individuals" "" "" "United States" "" "0" "" "" "" "10330339-cases" "00103087" "" "" "" "1" "" "00006" "{PMID:Sleat 1999:10330339}" "analysis 94 unrelated individuals" "" "" "United States" "" "0" "" "" "" "10330339-cases" "00103088" "" "" "" "1" "" "00006" "{PMID:Sleat 1999:10330339}" "analysis 92 unrelated individuals" "" "" "United States" "" "0" "" "" "" "10330339-cases" "00103089" "" "" "" "1" "" "00006" "{PMID:Sleat 1999:10330339}" "analysis 86 unrelated individuals" "" "" "United States" "" "0" "" "" "" "10330339-cases" "00103090" "" "" "" "1" "" "00006" "{PMID:Sleat 1999:10330339}" "analysis 84 unrelated individuals" "" "" "United States" "" "0" "" "" "" "10330339-cases" "00103091" "" "" "" "1" "" "00006" "{PMID:Liu 1998:9653647}" "" "" "" "United States" "" "0" "" "" "" "" "00103092" "" "" "" "1" "" "00006" "{PMID:Kousi:21990111}, Rothberg pers.comm. to NCL database" "" "" "" "" "" "0" "" "" "European" "10330339-cases" "00103093" "" "" "" "1" "" "00006" "{PMID:Sleat 1999:10330339}" "analysis 128 unrelated individuals" "" "" "United States" "" "0" "" "" "" "10330339-cases" "00103094" "" "" "" "1" "" "00006" "{PMID:Sleat 1999:10330339}" "analysis 128 unrelated individuals" "" "" "United States" "" "0" "" "" "" "10330339-cases" "00103095" "" "" "" "1" "" "00006" "{PMID:Kousi 2012:21990111}" "" "" "" "United States" "" "0" "" "" "" "-?" "00103096" "" "" "" "1" "" "00006" "{PMID:Sleat 1999:10330339}" "analysis 134 unrelated individuals" "" "" "United States" "" "0" "" "" "" "10330339-cases" "00103097" "" "" "" "1" "" "00006" "{PMID:Ju 2002:12414822}" "" "" "" "Canada" "" "0" "" "" "" "124148229-cases" "00103098" "" "" "" "1" "" "00006" "{PMID:Ju 2002:12414822}" "" "" "" "Canada" "" "0" "" "" "" "124148229-cases" "00103099" "" "" "" "1" "" "00006" "{PMID:Ju 2002:12414822}" "" "" "" "Canada" "" "0" "" "" "" "124148229-cases" "00103100" "" "" "" "1" "" "00006" "{PMID:Sleat 1999:10330339}" "analysis 116 unrelated individuals" "" "" "United States" "" "0" "" "" "" "10330339-cases" "00206936" "" "" "" "1" "" "00006" "{PMID:Sun 2013:23418007}" "" "" "" "Netherlands" "" "0" "" "" "" "C_Sun_2013" "00206937" "" "" "" "1" "" "00006" "{PMID:Sun 2013:23418007}" "" "" "" "Netherlands" "" "0" "" "" "" "D_Sun_2013" "00206938" "" "" "" "2" "" "00006" "{PMID:Sun 2013:23418007}" "sibs" "" "" "Netherlands" "" "0" "" "" "" "E1_Sun_2013; REL13" "00206939" "" "" "00206938" "1" "" "00006" "{PMID:Sun 2013:23418007}" "sibs" "" "" "Netherlands" "" "0" "" "" "" "E2_Sun_2013; REL13" "00206940" "" "" "" "1" "" "00006" "{PMID:Sun 2013:23418007}" "" "" "" "Netherlands" "" "0" "" "" "" "F_Sun_2013" "00206941" "" "" "" "1" "" "00006" "{PMID:Sun 2013:23418007}" "" "" "" "Netherlands" "" "0" "" "" "" "G_Sun_2013" "00206942" "" "" "" "1" "" "00006" "{PMID:Sun 2013:23418007}" "" "" "" "Netherlands" "" "0" "" "" "" "H_Sun_2013" "00206943" "" "" "" "1" "" "00006" "{PMID:Sun 2013:23418007}" "" "" "" "Netherlands" "" "0" "" "" "" "I_Sun_2013" "00206944" "" "" "" "1" "" "00006" "{PMID:Sun 2013:23418007}" "" "" "" "Netherlands" "" "0" "" "" "" "L_Sun_2013" "00206945" "" "" "" "1" "" "00006" "{PMID:Sun 2013:23418007}" "" "" "" "Netherlands" "" "0" "" "" "" "M_Sun_2013" "00206946" "" "" "" "1" "" "00006" "{PMID:Sun 2013:23418007}" "" "" "" "Netherlands" "" "0" "" "" "" "N_Sun_2013" "00206947" "" "" "" "2" "" "00006" "{PMID:Sun 2013:23418007}" "sibs" "" "" "Netherlands" "" "0" "" "" "" "O1_Sun_2013; REL14" "00206948" "" "" "00206947" "1" "" "00006" "{PMID:Sun 2013:23418007}" "sibs" "" "" "Netherlands" "" "0" "" "" "" "O2_Sun_2013; REL14" "00206949" "" "" "" "1" "" "00006" "{PMID:Kohan 2013:23266810}" "" "" "" "Argentina" "09y" "0" "" "" "" "016-0303-AR" "00206950" "" "" "" "1" "" "00006" "{PMID:Kohan 2013:23266810}" "" "" "" "Argentina" "15y" "0" "" "" "" "070-0701-AR" "00206951" "" "" "" "1" "" "00006" "{PMID:Kohan 2013:23266810}" "" "" "" "Argentina" "" "0" "" "" "" "073-0312-AR" "00206952" "" "" "" "1" "" "00006" "{PMID:Kohan 2013:23266810}" "" "" "" "Argentina" "" "0" "" "" "" "082-2219-AR; REL16" "00206953" "" "" "" "1" "" "00006" "{PMID:Kohan 2013:23266810}" "" "" "" "Argentina" "13y" "0" "" "" "" "082-1806-AR; REL16" "00206954" "" "" "" "1" "" "00006" "{PMID:Kohan 2013:23266810}" "" "" "" "Argentina" "10y" "0" "" "" "" "117-1312-AR" "00206955" "" "" "" "1" "" "00006" "{PMID:Kohan 2013:23266810}" "" "" "" "Chile" "" "0" "" "" "" "123-0713-CL" "00206956" "" "" "" "1" "" "00006" "{PMID:Kohan 2013:23266810}" "" "" "" "Argentina" "8y" "0" "" "" "" "127-0414-AR" "00206957" "" "" "" "1" "" "00006" "{PMID:Kohan 2013:23266810}" "" "" "" "Argentina" "" "0" "" "" "" "134-1107-AR" "00206958" "" "" "" "1" "" "00006" "{PMID:Kohan 2013:23266810}" "" "" "" "Argentina" "" "0" "" "" "" "153-0601-AR" "00206959" "" "" "" "1" "" "00006" "{PMID:Kohan 2013:23266810}" "" "" "" "Argentina" "" "0" "" "" "" "154-2010-AR" "00206960" "" "" "" "1" "" "00006" "{PMID:Kohan 2013:23266810}" "" "" "" "Argentina" "" "0" "" "" "" "162-0411-AR" "00206961" "" "" "" "1" "" "00006" "{PMID:Kohan 2013:23266810}" "" "" "" "Argentina" "27y" "0" "" "" "" "005-1501-AR; REL08" "00206962" "" "" "" "1" "" "00006" "{PMID:Kohan 2013:23266810}" "" "" "" "Argentina" "" "0" "" "" "" "005-1507-AR; REL08" "00206963" "" "" "" "1" "" "00011" "{PMID:Kohan 2013:23266810}" "" "" "" "Argentina" "27y" "0" "" "" "" "005-1503-AR; REL08" "00206964" "" "" "" "1" "" "00011" "{PMID:Kohan 2013:23266810}" "" "" "" "Chile" "" "0" "" "" "" "081-1004-CL" "00206965" "" "" "" "1" "" "00011" "{PMID:Kohan 2013:23266810}" "" "" "" "Chile" "16y" "0" "" "" "" "099-1303-CL" "00206966" "" "" "" "1" "" "00011" "{PMID:Kohan 2013:23266810}" "" "" "" "Chile" "" "0" "" "" "" "126-0113-CL" "00206967" "" "" "" "1" "" "00011" "{PMID:Kohan 2013:23266810}" "" "" "" "Argentina" "" "0" "" "" "" "147-1805-AR; REL17" "00206968" "" "" "" "1" "" "00011" "{PMID:Kohan 2013:23266810}" "" "" "" "Argentina" "" "0" "" "" "" "147-1807-AR; REL17" "00206969" "" "" "" "1" "" "00011" "{PMID:Kohan 2013:23266810}" "" "" "" "Argentina" "" "0" "" "" "" "149-0110-AR; REL19" "00206970" "" "" "" "1" "" "00011" "{PMID:Kohan 2013:23266810}" "" "" "" "Argentina" "" "0" "" "" "" "149-0112-AR; REL19" "00206971" "" "" "" "1" "" "00011" "{PMID:Kohan 2013:23266810}" "" "" "" "Argentina" "19y" "0" "" "" "" "173-1307-AR; REL18" "00206972" "" "" "" "1" "" "00011" "{PMID:Kohan 2013:23266810}" "" "" "" "Argentina" "21y" "0" "" "" "" "173-1308-AR; REL18" "00206973" "" "" "" "1" "" "00011" "{PMID:Kohan 2013:23266810}" "" "" "" "Argentina" "" "0" "" "" "" "185-1903-AR" "00206974" "" "" "" "1" "" "00011" "A. Simonati pers comm" "" "" "" "Italy" "" "0" "" "" "" "Pa-cln2.362" "00206975" "" "" "" "1" "" "00011" "{PMID:Shen 2013:23768618}" "" "" "" "China" "" "0" "" "" "" "Pa-cln2.363" "00206976" "" "" "" "1" "" "00011" "R. Williams pers comm" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pa-cln2.364" "00206977" "" "" "" "1" "" "00011" "R. Williams pers comm" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pa-cln2.365" "00206978" "" "" "" "1" "" "00011" "R. Williams pers comm" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pa-cln2.366" "00206979" "" "" "" "1" "" "00011" "R. Williams pers comm" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pa-cln2.367" "00206980" "" "" "" "1" "" "00011" "R. Williams pers comm" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pa-cln2.368" "00206981" "" "" "" "3" "" "00011" "{PMID:di Giacopo 2015:26143525}" "sibs" "" "" "Italy" "" "0" "" "" "" "patient 1; REL15" "00206982" "" "" "00206981" "1" "" "00011" "{PMID:di Giacopo 2015:26143525}" "sibs" "" "" "Italy" "" "0" "" "" "" "patient 2; REL15" "00206983" "" "" "00206981" "1" "" "00011" "{PMID:di Giacopo 2015:26143525}" "sibs" "" "" "Italy" "" "0" "" "" "" "patient 3; REL15" "00206984" "" "" "" "1" "" "00011" "{PMID:Saini 2016:27343025}" "" "" "" "India" "" "0" "" "" "" "" "00206985" "" "" "" "1" "" "00011" "{PMID:Yu 2015:26032578}" "" "" "" "China" "" "0" "" "" "" "" "00206986" "" "" "" "1" "" "00011" "Carrie Fagerstrom, pers communication 2015" "patient has asymptomatic older brother" "" "" "Mexico" "" "0" "" "" "" "" "00206987" "" "" "" "1" "" "00011" "{PMID:Dy 2015:26224725}" "" "" "" "United States" "" "0" "" "" "" "" "00206988" "" "" "" "1" "" "00011" "{PMID:Kara 2016:27217339}" "" "" "" "Wales" "" "0" "" "" "" "43" "00206989" "" "" "" "1" "" "00011" "{PMID:Reid 2016:27604308}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "U7" "00206990" "" "" "" "1" "" "00011" "pers comm from relative" "" "" "" "" "" "0" "" "" "" "" "00206991" "" "" "" "1" "" "00011" "{PMID:Kousi 2009:19201763}" "" "" "" "Turkey" "" "0" "" "" "" "N2103_Kousi_2009" "00206992" "" "" "" "1" "" "00011" "{PMID:Bhavsar 2016:27518768}" "" "" "" "India" "" "0" "" "" "" "" "00206993" "" "" "" "1" "" "00011" "{PMID:Bhavsar 2016:27518768}" "" "" "" "India" "" "0" "" "" "" "" "00206994" "" "" "" "1" "" "00011" "{PMID:Bhavsar 2016:27518768}" "" "" "" "India" "" "0" "" "" "" "" "00206995" "" "" "" "1" "" "00011" "{PMID:Bhavsar 2016:27518768}" "" "" "" "India" "" "0" "" "" "" "" "00206996" "" "" "" "1" "" "00011" "{PMID:Bhavsar 2016:27518768}" "" "" "" "India" "" "0" "" "" "" "" "00206997" "" "" "" "1" "" "00011" "{PMID:Bhavsar 2016:27518768}" "" "" "" "India" "" "0" "" "" "" "" "00206998" "" "" "" "1" "" "00011" "Miriam Nickel, Hamburg" "" "" "" "Germany" "" "0" "" "" "" "1:B" "00206999" "" "" "" "1" "" "00011" "" "" "" "" "Poland" "" "0" "" "" "" "2:P" "00207000" "" "" "" "1" "" "00011" "" "" "" "" "Spain" "" "0" "" "" "" "3:R" "00207001" "" "" "" "1" "" "00011" "" "" "" "" "Greece;Macedonia" "" "0" "" "" "" "4:RM" "00207002" "" "" "" "1" "" "00011" "" "" "" "" "Germany" "" "0" "" "" "" "5:J" "00207003" "" "" "" "1" "" "00011" "" "" "" "" "Japan" "" "0" "" "" "" "6:K" "00207004" "" "" "" "1" "" "00011" "" "" "" "" "Greece;Macedonia" "" "0" "" "" "" "7:K" "00207005" "" "" "" "1" "" "00011" "Lina Tavera, Colombia" "" "" "" "Colombia" "" "0" "" "" "" "C1" "00207006" "" "" "" "1" "" "00011" "Emily de los Reyes, USA" "" "" "" "Guatemala" "" "0" "" "" "" "C1" "00207007" "" "" "" "1" "" "00011" "" "" "" "" "Canada" "" "0" "" "" "" "C2" "00207008" "" "" "" "1" "" "00011" "Raymond Wang, USA" "" "" "" "United States" "" "0" "" "" "" "C1" "00207009" "" "" "" "1" "" "00011" "" "" "" "" "El Salvador" "" "0" "" "" "" "C2" "00207010" "" "" "" "1" "" "00011" "" "" "" "" "United States" "" "0" "" "" "" "C3" "00207011" "" "" "" "1" "" "00011" "Paul Gissen, UK" "" "" "" "" "" "0" "" "" "" "" "00290484" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290485" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290486" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290488" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290489" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290491" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290492" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00303044" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat89" "00303046" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat91" "00307860" "" "" "" "1" "" "03765" "" "" "M" "?" "Egypt" "" "" "" "" "" "?" "00307861" "" "" "" "1" "" "03765" "" "" "M" "yes" "Egypt" "" "" "" "" "" "?" "00307862" "" "" "" "1" "" "03765" "" "" "M" "?" "Egypt" "" "0" "" "" "" "?" "00307863" "" "" "" "1" "" "03765" "" "" "F" "no" "India" "" "" "" "" "" "?" "00307864" "" "" "" "1" "" "03765" "" "" "M" "no" "Tunisia" "" "" "" "" "" "?" "00307865" "" "" "" "1" "" "03765" "" "" "F" "?" "Lebanon" "" "" "" "" "" "?" "00307866" "" "" "" "1" "" "03765" "" "" "M" "yes" "Egypt" "" "0" "" "" "" "?" "00307867" "" "" "" "1" "" "03765" "" "" "F" "yes" "Lebanon" "" "" "" "" "" "?" "00307868" "" "" "" "1" "" "03765" "" "" "F" "yes" "Egypt" "" "" "" "" "" "?" "00307869" "" "" "" "1" "" "03765" "" "" "F" "?" "Oman" "" "" "" "" "" "?" "00334481" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00361510" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "familial" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "13DG1309" "00374526" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2587" "00374527" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-1079" "00374528" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2691" "00374874" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5502" "00374875" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-1904" "00383470" "" "" "" "1" "" "00000" "{PMID:Dozieres-Puyravel 2020:31489614}" "" "?" "" "France" "" "0" "" "" "" "2A" "00383471" "" "" "" "1" "" "00000" "{PMID:Dozieres-Puyravel 2020:31489614}" "" "?" "" "France" "" "0" "" "" "" "2B" "00383472" "" "" "" "1" "" "00000" "{PMID:Dozieres-Puyravel 2020:31489614}" "" "?" "" "France" "" "0" "" "" "" "2C" "00383473" "" "" "" "1" "" "00000" "{PMID:Dozieres-Puyravel 2020:31489614}" "" "?" "" "France" "" "0" "" "" "" "2D" "00383474" "" "" "" "1" "" "00000" "{PMID:Dozieres-Puyravel 2020:31489614}" "" "?" "" "France" "" "0" "" "" "" "2E" "00383475" "" "" "" "1" "" "00000" "{PMID:Dozieres-Puyravel 2020:31489614}" "" "?" "" "France" "" "0" "" "" "" "2F" "00383476" "" "" "" "1" "" "00000" "{PMID:Dozieres-Puyravel 2020:31489614}" "" "?" "" "France" "" "0" "" "" "" "2G" "00383477" "" "" "" "1" "" "00000" "{PMID:Dozieres-Puyravel 2020:31489614}" "" "?" "" "France" "" "0" "" "" "" "2H" "00383478" "" "" "" "1" "" "00000" "{PMID:Dozieres-Puyravel 2020:31489614}" "" "?" "" "France" "" "0" "" "" "" "2J" "00384510" "" "" "" "1" "" "00000" "{PMID:Ren 2019:31105743}" "AR" "F" "no" "China" "" "0" "" "" "" "1" "00384524" "" "" "" "1" "" "00000" "{PMID:Jilani 2019:31741823}" "" "F" "no" "" "" "0" "" "" "" "4" "00384525" "" "" "" "1" "" "00000" "{PMID:Jilani 2019:31741823}" "" "M" "no" "" "" "0" "" "" "" "5" "00384526" "" "" "" "1" "" "00000" "{PMID:Jilani 2019:31741823}" "" "M" "?" "" "2y10m" "0" "" "" "" "6" "00384528" "" "" "" "1" "" "00000" "{PMID:Jilani 2019:31741823}" "" "M" "no" "" "" "0" "" "" "" "8" "00384529" "" "" "" "1" "" "00000" "{PMID:Jilani 2019:31741823}" "" "M" "?" "" "" "0" "" "" "" "9" "00384530" "" "" "" "1" "" "00000" "{PMID:Jilani 2019:31741823}" "" "M" "no" "" "12y" "0" "" "" "" "10" "00384531" "" "" "" "1" "" "00000" "{PMID:Jilani 2019:31741823}" "proband 11, family psi" "F" "no" "" "9y" "0" "" "" "" "11psi" "00384532" "" "" "" "1" "" "00000" "{PMID:Jilani 2019:31741823}" "sibling of proband 11, family psi" "F" "no" "" "6y" "0" "" "" "" "12psi" "00388286" "" "" "" "1" "" "00000" "{PMID:Kozina 2020:32412666}" "" "M" "no" "Russia" "" "0" "" "" "" "1" "00431835" "" "" "" "1" "" "01602" "" "" "M" "" "Switzerland" "00y03m" "" "" "" "Europe" "SIDS014" "00433033" "" "" "" "1" "" "04178" "" "" "M" "yes" "Egypt" "" "" "" "" "" "" "00455795" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "M" "" "" "" "0" "" "" "" "Pat35" "00456257" "" "" "" "1" "" "00006" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "M" "" "Spain" "" "0" "" "" "" "Pat35" "00468034" "" "" "" "1" "" "00006" "{PMID:Ohba 2013:24091540}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Japan" "" "0" "" "" "" "Pat6" "00469462" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 464 "{{individualid}}" "{{diseaseid}}" "00080806" "01649" "00102749" "04233" "00102750" "00000" "00102751" "04233" "00102752" "04233" "00102753" "00000" "00102754" "00000" "00102755" "04233" "00102756" "00000" "00102757" "00000" "00102758" "04233" "00102759" "00000" "00102760" "04233" "00102761" "05258" "00102762" "05258" "00102763" "05258" "00102764" "05258" "00102765" "05258" "00102766" "05258" "00102767" "05258" "00102768" "05258" "00102769" "05258" "00102770" "05258" "00102771" "05258" "00102772" "05258" "00102773" "05258" "00102774" "05258" "00102775" "05258" "00102776" "05258" "00102777" "05258" "00102778" "05258" "00102779" "05258" "00102780" "05258" "00102781" "05258" "00102782" "05258" "00102783" "05258" "00102784" "05258" "00102785" "05258" "00102786" "05258" "00102787" "05258" "00102788" "05258" "00102789" "05258" "00102790" "05258" "00102791" "05258" "00102792" "05258" "00102793" "05258" "00102794" "05258" "00102795" "05258" "00102796" "05258" "00102797" "05258" "00102798" "05258" "00102799" "05258" "00102800" "05258" "00102801" "05258" "00102802" "05258" "00102803" "05258" "00102804" "05258" "00102805" "05258" "00102806" "05258" "00102807" "05258" "00102808" "05258" "00102809" "05258" "00102810" "05258" "00102811" "05258" "00102812" "05258" "00102813" "05258" "00102814" "05258" "00102815" "05258" "00102816" "05258" "00102817" "05258" "00102818" "05258" "00102819" "05258" "00102820" "05258" "00102821" "05258" "00102822" "05258" "00102823" "05258" "00102824" "05258" "00102825" "05258" "00102826" "05258" "00102827" "05258" "00102828" "05258" "00102829" "05258" "00102830" "05258" "00102831" "05258" "00102832" "05258" "00102833" "05258" "00102834" "05258" "00102835" "05258" "00102836" "05258" "00102837" "05258" "00102838" "05258" "00102839" "05258" "00102840" "05258" "00102841" "05258" "00102842" "05258" "00102843" "05258" "00102844" "05258" "00102845" "05258" "00102846" "05258" "00102847" "05258" "00102848" "05258" "00102849" "05258" "00102850" "05258" "00102851" "05258" "00102852" "05258" "00102853" "05258" "00102854" "05258" "00102855" "05258" "00102856" "05258" "00102857" "05258" "00102858" "05258" "00102859" "05258" "00102860" "05258" "00102861" "05258" "00102862" "05258" "00102863" "05258" "00102864" "05258" "00102865" "05258" "00102866" "05258" "00102867" "05258" "00102868" "05258" "00102869" "05258" "00102870" "05258" "00102871" "05258" "00102872" "05258" "00102873" "05258" "00102874" "05258" "00102875" "05258" "00102876" "05258" "00102877" "05258" "00102878" "05258" "00102879" "05258" "00102880" "05258" "00102881" "05258" "00102882" "05258" "00102883" "05258" "00102884" "05258" "00102885" "05258" "00102886" "05258" "00102887" "05258" "00102888" "05258" "00102889" "05258" "00102890" "05258" "00102891" "05258" "00102892" "05258" "00102893" "05258" "00102894" "05258" "00102895" "05258" "00102896" "05258" "00102897" "05258" "00102898" "05258" "00102899" "05258" "00102900" "05258" "00102901" "05258" "00102902" "05258" "00102903" "05258" "00102904" "05258" "00102905" "05258" "00102906" "05258" "00102907" "05258" "00102908" "05258" "00102909" "05258" "00102910" "05258" "00102911" "05258" "00102912" "05258" "00102913" "05258" "00102914" "05258" "00102915" "05258" "00102916" "05258" "00102917" "05258" "00102918" "05258" "00102919" "05258" "00102920" "05258" "00102921" "05258" "00102922" "05258" "00102923" "05258" "00102924" "05258" "00102932" "05258" "00102933" "05258" "00102934" "05258" "00102935" "05258" "00102936" "05258" "00102937" "05258" "00102938" "05258" "00102939" "05258" "00102940" "05258" "00102941" "05258" "00102942" "05258" "00102943" "05258" "00102944" "05258" "00102945" "05258" "00102946" "05258" "00102947" "05258" "00102948" "05258" "00102949" "05258" "00102950" "05258" "00102951" "05258" "00102952" "05258" "00102953" "05258" "00102954" "05258" "00102955" "05258" "00102956" "05258" "00102957" "05258" "00102958" "05258" "00102959" "05258" "00102960" "05258" "00102961" "05258" "00102962" "05258" "00102963" "05258" "00102964" "05258" "00102965" "05258" "00102966" "05258" "00102967" "05258" "00102968" "05258" "00102969" "05258" "00102970" "05258" "00102971" "05258" "00102972" "05258" "00102973" "05258" "00102974" "05258" "00102975" "05258" "00102976" "05258" "00102977" "05258" "00102978" "05258" "00102979" "05258" "00102980" "05258" "00102981" "05258" "00102982" "05258" "00102983" "05258" "00102984" "05258" "00102985" "05258" "00102986" "05258" "00102987" "05258" "00102988" "05258" "00102989" "05258" "00102990" "05258" "00102991" "05258" "00102992" "05258" "00102993" "05258" "00102994" "05258" "00102995" "05258" "00102996" "05258" "00102997" "05258" "00102998" "05258" "00102999" "05258" "00103000" "05258" "00103001" "05258" "00103002" "05258" "00103003" "05258" "00103004" "05258" "00103005" "05258" "00103006" "05258" "00103007" "05258" "00103008" "05258" "00103009" "05258" "00103010" "05258" "00103011" "05258" "00103012" "05258" "00103013" "05258" "00103014" "05258" "00103015" "05258" "00103016" "05258" "00103017" "05258" "00103018" "05258" "00103019" "05258" "00103020" "05258" "00103021" "05258" "00103022" "05258" "00103023" "05258" "00103024" "05258" "00103025" "05258" "00103026" "05258" "00103027" "05258" "00103028" "05258" "00103029" "05258" "00103030" "05258" "00103031" "05258" "00103032" "05258" "00103033" "05258" "00103034" "05258" "00103035" "05258" "00103036" "05258" "00103037" "05258" "00103038" "05258" "00103039" "05258" "00103040" "05258" "00103041" "05258" "00103042" "05258" "00103043" "05258" "00103044" "05258" "00103045" "05258" "00103046" "05258" "00103047" "05258" "00103048" "05258" "00103049" "05258" "00103050" "05258" "00103051" "05258" "00103052" "05258" "00103053" "05258" "00103054" "05258" "00103055" "05258" "00103056" "05258" "00103057" "05258" "00103058" "05258" "00103059" "05258" "00103060" "05258" "00103061" "05258" "00103062" "05258" "00103063" "05258" "00103064" "05258" "00103065" "05258" "00103066" "05258" "00103067" "05258" "00103068" "05258" "00103069" "05258" "00103070" "05258" "00103071" "05258" "00103072" "05258" "00103081" "05258" "00103082" "05258" "00103083" "05258" "00103085" "05258" "00103086" "05258" "00103087" "05258" "00103088" "05258" "00103089" "05258" "00103090" "05258" "00103091" "05258" "00103092" "05258" "00103093" "05258" "00103094" "05258" "00103095" "05258" "00103096" "05258" "00103097" "05258" "00103098" "05258" "00103099" "05258" "00103100" "05258" "00206936" "05258" "00206937" "05258" "00206938" "05258" "00206939" "05258" "00206940" "05258" "00206941" "05258" "00206942" "05258" "00206943" "05258" "00206944" "05258" "00206945" "05258" "00206946" "05258" "00206947" "05258" "00206948" "05258" "00206949" "05258" "00206950" "05258" "00206951" "05258" "00206952" "05258" "00206953" "05258" "00206954" "05258" "00206955" "05258" "00206956" "05258" "00206957" "05258" "00206958" "05258" "00206959" "05258" "00206960" "04201" "00206961" "05258" "00206962" "05258" "00206963" "05258" "00206964" "05258" "00206965" "05258" "00206966" "05258" "00206967" "05258" "00206968" "05258" "00206969" "05258" "00206970" "05258" "00206971" "05258" "00206972" "05258" "00206973" "05258" "00206974" "00198" "00206975" "05258" "00206976" "05258" "00206977" "05258" "00206978" "05258" "00206979" "05258" "00206980" "05258" "00206981" "05258" "00206982" "05258" "00206983" "05258" "00206984" "05258" "00206985" "05258" "00206986" "05258" "00206987" "04201" "00206988" "04201" "00206989" "00198" "00206990" "05258" "00206991" "00198" "00206992" "05258" "00206993" "05258" "00206994" "05258" "00206995" "05258" "00206996" "05258" "00206997" "05258" "00206998" "05258" "00206999" "05258" "00207000" "05258" "00207001" "05258" "00207002" "05258" "00207003" "05258" "00207004" "05258" "00207005" "05258" "00207006" "05258" "00207007" "05258" "00207008" "05258" "00207009" "05258" "00207010" "05258" "00207011" "05258" "00290484" "00198" "00290485" "00198" "00290486" "00198" "00290488" "00198" "00290489" "00198" "00290491" "00198" "00290492" "00198" "00303044" "05521" "00303046" "05521" "00307860" "01649" "00307861" "01649" "00307862" "01649" "00307863" "01649" "00307864" "01649" "00307865" "01649" "00307866" "01649" "00307867" "01649" "00307868" "01649" "00307869" "01649" "00334481" "05793" "00361510" "00139" "00374526" "00198" "00374527" "00198" "00374528" "00198" "00374874" "00198" "00374875" "00198" "00383470" "05258" "00383471" "05258" "00383472" "05258" "00383473" "05258" "00383474" "05258" "00383475" "05258" "00383476" "05258" "00383477" "05258" "00383478" "05258" "00384510" "04214" "00384524" "05258" "00384525" "05258" "00384526" "05258" "00384528" "05258" "00384529" "05258" "00384530" "05258" "00384531" "05258" "00384532" "05258" "00388286" "05258" "00431835" "02087" "00433033" "01649" "00455795" "00198" "00456257" "00198" "00468034" "00198" "00469462" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 01649, 02087, 04201, 04214, 04233, 05258, 05521, 05793 ## Count = 430 "{{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}}" "0000060375" "01649" "00080806" "01758" "Familial, autosomal recessive" "" "Ceroid lipofuscinosis, neuronal, 2 (OMIM:204500)" "" "" "" "" "" "" "" "" "" "" "" "0000080881" "04233" "00102749" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SCAR-7" "spinocerebellar ataxia" "" "0000080883" "04233" "00102751" "00006" "Familial, autosomal recessive" "" "no histology" "" "" "" "" "" "" "" "" "SCAR-7" "spinocerebellar ataxia" "" "0000080884" "04233" "00102752" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SCAR-7" "spinocerebellar ataxia" "" "0000080887" "04233" "00102755" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SCAR-7" "spinocerebellar ataxia" "" "0000080890" "04233" "00102758" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SCAR-7" "spinocerebellar ataxia" "" "0000080892" "04233" "00102760" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SCAR-7" "spinocerebellar ataxia" "" "0000080893" "05258" "00102761" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080894" "05258" "00102762" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080895" "05258" "00102763" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080896" "05258" "00102764" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080897" "05258" "00102765" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080898" "05258" "00102766" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080899" "05258" "00102767" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080900" "05258" "00102768" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080901" "05258" "00102769" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080902" "05258" "00102770" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080903" "05258" "00102771" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080904" "05258" "00102772" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080905" "05258" "00102773" "00011" "Unknown" "" "histology curvilinear" "3y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080906" "05258" "00102774" "00011" "Unknown" "" "histology curvilinear" "3y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080907" "05258" "00102775" "00011" "Unknown" "" "histology curvilinear; granular osmiophilic deposits" "3y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080908" "05258" "00102776" "00011" "Unknown" "" "histology fingerprint, consensed" "2y3m" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080909" "05258" "00102777" "00011" "Unknown" "" "histology curvilinear" "3y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080910" "05258" "00102778" "00011" "Unknown" "" "histology curvilinear" "3y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080911" "05258" "00102779" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080912" "05258" "00102780" "00011" "Unknown" "" "histology curvilinear" "3y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080913" "05258" "00102781" "00011" "Unknown" "" "histology curvilinear; fingerprint, consensed" "3y6m" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080914" "05258" "00102782" "00011" "Unknown" "" "histology curvilinear" "3y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080915" "05258" "00102783" "00011" "Unknown" "" "histology curvilinear" "3y6m" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080916" "05258" "00102784" "00011" "Unknown" "" "histology curvilinear" "3y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080917" "05258" "00102785" "00011" "Unknown" "" "histology curvilinear" "3y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080918" "05258" "00102786" "00011" "Unknown" "" "histology curvilinear" "2y6m" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080919" "05258" "00102787" "00011" "Unknown" "" "histology curvilinear" "3y6m" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080920" "05258" "00102788" "00011" "Unknown" "" "histology curvilinear" "3y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080921" "05258" "00102789" "00011" "Unknown" "" "histology curvilinear" "3y4m" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080922" "05258" "00102790" "00011" "Unknown" "" "histology curvilinear" "3y6m" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080923" "05258" "00102791" "00011" "Unknown" "" "histology curvilinear" "3y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080924" "05258" "00102792" "00011" "Unknown" "" "histology curvilinear" "2y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080925" "05258" "00102793" "00011" "Unknown" "" "histology curvilinear" "2y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080926" "05258" "00102794" "00011" "Unknown" "" "histology curvilinear" "2y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080927" "05258" "00102795" "00011" "Unknown" "" "histology curvilinear" "3y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080928" "05258" "00102796" "00011" "Unknown" "" "histology curvilinear" "2y11m" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080929" "05258" "00102797" "00011" "Unknown" "" "histology curvilinear" "3y9m" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080930" "05258" "00102798" "00011" "Unknown" "" "histology curvilinear" "2y4m" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080931" "05258" "00102799" "00011" "Unknown" "" "histology curvilinear" "3y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080932" "05258" "00102800" "00011" "Unknown" "" "histology curvilinear" "3y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080933" "05258" "00102801" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080934" "05258" "00102802" "00011" "Unknown" "" "histology curvilinear" "3y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080935" "05258" "00102803" "00011" "Unknown" "" "histology curvilinear" "2y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080936" "05258" "00102804" "00011" "Unknown" "" "histology curvilinear" "3y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080937" "05258" "00102805" "00011" "Unknown" "" "" "3y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080938" "05258" "00102806" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080939" "05258" "00102807" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080940" "05258" "00102808" "00011" "Unknown" "" "histology curvilinear" "2y9m" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080941" "05258" "00102809" "00011" "Unknown" "" "histology curvilinear; fingerprint, consensed" "7y" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000080942" "05258" "00102810" "00011" "Unknown" "" "histology curvilinear; fingerprint, consensed" "3y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080943" "05258" "00102811" "00011" "Unknown" "" "histology curvilinear" "2y10m" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080944" "05258" "00102812" "00011" "Unknown" "" "histology curvilinear" "3y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080945" "05258" "00102813" "00011" "Unknown" "" "histology curvilinear; fingerprint, consensed" "3y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080946" "05258" "00102814" "00011" "Unknown" "" "" "3y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080947" "05258" "00102815" "00011" "Unknown" "" "histology curvilinear" "2y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080948" "05258" "00102816" "00011" "Unknown" "" "histology curvilinear; fingerprint, consensed" "3y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080949" "05258" "00102817" "00011" "Unknown" "" "histology curvilinear" "3y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080950" "05258" "00102818" "00011" "Unknown" "" "histology curvilinear" "3y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080951" "05258" "00102819" "00011" "Unknown" "" "histology curvilinear" "2y6m" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080952" "05258" "00102820" "00011" "Unknown" "" "histology curvilinear; fingerprint, consensed" "8y" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000080953" "05258" "00102821" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000080954" "05258" "00102822" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000080955" "05258" "00102823" "00011" "Unknown" "" "histology curvilinear" "3y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080956" "05258" "00102824" "00011" "Unknown" "" "histology curvilinear" "3y6m" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080957" "05258" "00102825" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080958" "05258" "00102826" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080959" "05258" "00102827" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080960" "05258" "00102828" "00011" "Unknown" "" "histology curvilinear" "2y6m" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080961" "05258" "00102829" "00011" "Unknown" "" "histology curvilinear" "3y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080962" "05258" "00102830" "00011" "Unknown" "" "histology curvilinear; fingerprint, consensed" "3y6m" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080963" "05258" "00102831" "00011" "Unknown" "" "histology curvilinear; fingerprint, consensed" "7y" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000080964" "05258" "00102832" "00011" "Unknown" "" "histology curvilinear" "<2y6m" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080965" "05258" "00102833" "00011" "Unknown" "" "histology curvilinear" "3y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080966" "05258" "00102834" "00011" "Unknown" "" "histology curvilinear" "4y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080967" "05258" "00102835" "00011" "Unknown" "" "histology curvilinear" "3y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080968" "05258" "00102836" "00011" "Unknown" "" "" "<2y6m" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080969" "05258" "00102837" "00011" "Unknown" "" "histology curvilinear" "2y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080970" "05258" "00102838" "00011" "Unknown" "" "histology curvilinear; fingerprint, consensed; granular osmiophilic deposits" "4y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080971" "05258" "00102839" "00011" "Unknown" "" "histology curvilinear" "4m" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080972" "05258" "00102840" "00011" "Unknown" "" "histology curvilinear" "3y6m" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080973" "05258" "00102841" "00011" "Unknown" "" "histology curvilinear" "3y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080974" "05258" "00102842" "00011" "Unknown" "" "histology curvilinear" "3y6m" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080975" "05258" "00102843" "00011" "Unknown" "" "histology curvilinear; fingerprint, consensed" "3y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080976" "05258" "00102844" "00011" "Unknown" "" "histology curvilinear; fingerprint, consensed" "3y6m" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080977" "05258" "00102845" "00011" "Unknown" "" "histology curvilinear" "2y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080978" "05258" "00102846" "00011" "Unknown" "" "histology curvilinear" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080979" "05258" "00102847" "00011" "Unknown" "" "histology curvilinear" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080980" "05258" "00102848" "00011" "Unknown" "" "histology curvilinear" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080981" "05258" "00102849" "00011" "Unknown" "" "histology curvilinear" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080982" "05258" "00102850" "00011" "Unknown" "" "histology curvilinear" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080983" "05258" "00102851" "00011" "Unknown" "" "histology curvilinear" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080984" "05258" "00102852" "00011" "Unknown" "" "histology curvilinear" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080985" "05258" "00102853" "00011" "Unknown" "" "histology curvilinear" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080986" "05258" "00102854" "00011" "Unknown" "" "histology curvilinear" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080987" "05258" "00102855" "00011" "Unknown" "" "histology curvilinear" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080988" "05258" "00102856" "00011" "Unknown" "" "histology curvilinear" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080989" "05258" "00102857" "00011" "Unknown" "" "histology curvilinear" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080990" "05258" "00102858" "00011" "Unknown" "" "histology curvilinear" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080991" "05258" "00102859" "00011" "Unknown" "" "histology curvilinear" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080992" "05258" "00102860" "00011" "Unknown" "" "histology curvilinear" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080993" "05258" "00102861" "00011" "Unknown" "" "histology curvilinear" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080994" "05258" "00102862" "00011" "Unknown" "" "histology curvilinear" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080995" "05258" "00102863" "00011" "Unknown" "" "histology curvilinear" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080996" "05258" "00102864" "00011" "Unknown" "" "histology curvilinear" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080997" "05258" "00102865" "00011" "Unknown" "" "histology curvilinear" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080998" "05258" "00102866" "00011" "Unknown" "" "histology curvilinear" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000080999" "05258" "00102867" "00011" "Unknown" "" "histology curvilinear" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081000" "05258" "00102868" "00011" "Unknown" "" "histology curvilinear" "3y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081001" "05258" "00102869" "00011" "Unknown" "" "histology curvilinear; granular osmiophilic deposits" "2y9m" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081002" "05258" "00102870" "00011" "Unknown" "" "infantile CLN; histology curvilinear" "10m" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081003" "05258" "00102871" "00011" "Unknown" "" "histology curvilinear" "3y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081004" "05258" "00102872" "00011" "Unknown" "" "" "2y6m" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081005" "05258" "00102873" "00011" "Unknown" "" "histology curvilinear" "3y6m" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081006" "05258" "00102874" "00011" "Unknown" "" "histology curvilinear" "2y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081007" "05258" "00102875" "00011" "Unknown" "" "histology curvilinear" "2y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081008" "05258" "00102876" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081009" "05258" "00102877" "00011" "Unknown" "" "histology curvilinear" "3y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081010" "05258" "00102878" "00011" "Unknown" "" "" "3y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081011" "05258" "00102879" "00011" "Unknown" "" "histology curvilinear" "3y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081012" "05258" "00102880" "00011" "Unknown" "" "" "2y6m" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081013" "05258" "00102881" "00011" "Unknown" "" "" "1m" "" "" "" "" "" "" "" "" "infantile NCL" "" "0000081014" "05258" "00102882" "00011" "Unknown" "" "histology curvilinear" "3y6m" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081015" "05258" "00102883" "00011" "Unknown" "" "histology curvilinear" "3y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081016" "05258" "00102884" "00011" "Unknown" "" "histology curvilinear" "3y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081017" "05258" "00102885" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081018" "05258" "00102886" "00011" "Unknown" "" "histology curvilinear" "2y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081019" "05258" "00102887" "00011" "Unknown" "" "histology curvilinear; fingerprint, consensed" "3y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081020" "05258" "00102888" "00011" "Unknown" "" "" "3y6m" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081021" "05258" "00102889" "00011" "Unknown" "" "" "2y9m" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081022" "05258" "00102890" "00011" "Unknown" "" "" "3y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081023" "05258" "00102891" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081024" "05258" "00102892" "00011" "Unknown" "" "histology curvilinear" "3y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081025" "05258" "00102893" "00011" "Unknown" "" "histology curvilinear; fingerprint, consensed" "4y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081026" "05258" "00102894" "00011" "Unknown" "" "histology curvilinear; fingerprint, consensed" "3y6m" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081027" "05258" "00102895" "00011" "Unknown" "" "histology curvilinear; fingerprint, consensed" "3y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081028" "05258" "00102896" "00011" "Unknown" "" "histology curvilinear; fingerprint, consensed" "3y6m" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081029" "05258" "00102897" "00011" "Unknown" "" "histology curvilinear; fingerprint, consensed" "3y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081030" "05258" "00102898" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081031" "05258" "00102899" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081032" "05258" "00102900" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081033" "05258" "00102901" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081034" "05258" "00102902" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081035" "05258" "00102903" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081036" "05258" "00102904" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081037" "05258" "00102905" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081038" "05258" "00102906" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081039" "05258" "00102907" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081040" "05258" "00102908" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081041" "05258" "00102909" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081042" "05258" "00102910" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081043" "05258" "00102911" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081044" "05258" "00102912" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081045" "05258" "00102913" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081046" "05258" "00102914" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081047" "05258" "00102915" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081048" "05258" "00102916" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081049" "05258" "00102917" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081050" "05258" "00102918" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081051" "05258" "00102919" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081052" "05258" "00102920" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081053" "05258" "00102921" "00011" "Unknown" "" "histology curvilinear" "1y" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081054" "05258" "00102922" "00011" "Unknown" "" "histology curvilinear" "3y" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081055" "05258" "00102923" "00011" "Unknown" "" "" "3y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081056" "05258" "00102924" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081064" "05258" "00102932" "00011" "Unknown" "" "" "3y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081065" "05258" "00102933" "00011" "Unknown" "" "" "3y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081066" "05258" "00102934" "00011" "Unknown" "" "histology curvilinear" "3y6m" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081067" "05258" "00102935" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081068" "05258" "00102936" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081069" "05258" "00102937" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081070" "05258" "00102938" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081071" "05258" "00102939" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081072" "05258" "00102940" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081073" "05258" "00102941" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081074" "05258" "00102942" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081075" "05258" "00102943" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081076" "05258" "00102944" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081077" "05258" "00102945" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081078" "05258" "00102946" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081079" "05258" "00102947" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081080" "05258" "00102948" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081081" "05258" "00102949" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081082" "05258" "00102950" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081083" "05258" "00102951" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081084" "05258" "00102952" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081085" "05258" "00102953" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081086" "05258" "00102954" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081087" "05258" "00102955" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081088" "05258" "00102956" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081089" "05258" "00102957" "00011" "Unknown" "" "histology curvilinear; fingerprint, consensed" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081090" "05258" "00102958" "00011" "Unknown" "" "histology curvilinear; fingerprint, consensed" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081091" "05258" "00102959" "00011" "Unknown" "" "histology curvilinear; fingerprint, consensed" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081092" "05258" "00102960" "00011" "Unknown" "" "histology curvilinear; fingerprint, consensed" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081093" "05258" "00102961" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081094" "05258" "00102962" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081095" "05258" "00102963" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081096" "05258" "00102964" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081097" "05258" "00102965" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081098" "05258" "00102966" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081099" "05258" "00102967" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081100" "05258" "00102968" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081101" "05258" "00102969" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081102" "05258" "00102970" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081103" "05258" "00102971" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081104" "05258" "00102972" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081105" "05258" "00102973" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081106" "05258" "00102974" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081107" "05258" "00102975" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081108" "05258" "00102976" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081109" "05258" "00102977" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081110" "05258" "00102978" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081111" "05258" "00102979" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081112" "05258" "00102980" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081113" "05258" "00102981" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081114" "05258" "00102982" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081115" "05258" "00102983" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081116" "05258" "00102984" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081117" "05258" "00102985" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081118" "05258" "00102986" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081119" "05258" "00102987" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081120" "05258" "00102988" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081121" "05258" "00102989" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081122" "05258" "00102990" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081123" "05258" "00102991" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081124" "05258" "00102992" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081125" "05258" "00102993" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081126" "05258" "00102994" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081127" "05258" "00102995" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081128" "05258" "00102996" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081129" "05258" "00102997" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081130" "05258" "00102998" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081131" "05258" "00102999" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081132" "05258" "00103000" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081133" "05258" "00103001" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081134" "05258" "00103002" "00011" "Unknown" "" "" "3y" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081135" "05258" "00103003" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081136" "05258" "00103004" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081137" "05258" "00103005" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081138" "05258" "00103006" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081139" "05258" "00103007" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081140" "05258" "00103008" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081141" "05258" "00103009" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081142" "05258" "00103010" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081143" "05258" "00103011" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081144" "05258" "00103012" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081145" "05258" "00103013" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081146" "05258" "00103014" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081147" "05258" "00103015" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081148" "05258" "00103016" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081149" "05258" "00103017" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081150" "05258" "00103018" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081151" "05258" "00103019" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081152" "05258" "00103020" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081153" "05258" "00103021" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081154" "05258" "00103022" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081155" "05258" "00103023" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081156" "05258" "00103024" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081157" "05258" "00103025" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081158" "05258" "00103026" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081159" "05258" "00103027" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081160" "05258" "00103028" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081161" "05258" "00103029" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081162" "05258" "00103030" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081163" "05258" "00103031" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081164" "05258" "00103032" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081165" "05258" "00103033" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081166" "05258" "00103034" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081167" "05258" "00103035" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081168" "05258" "00103036" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081169" "05258" "00103037" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081170" "05258" "00103038" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081171" "05258" "00103039" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081172" "05258" "00103040" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081173" "05258" "00103041" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081174" "05258" "00103042" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081175" "05258" "00103043" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081176" "05258" "00103044" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081177" "05258" "00103045" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081178" "05258" "00103046" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081179" "05258" "00103047" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081180" "05258" "00103048" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081181" "05258" "00103049" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081182" "05258" "00103050" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081183" "05258" "00103051" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081184" "05258" "00103052" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081185" "05258" "00103053" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081186" "05258" "00103054" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081187" "05258" "00103055" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081188" "05258" "00103056" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081189" "05258" "00103057" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081190" "05258" "00103058" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081191" "05258" "00103059" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081192" "05258" "00103060" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081193" "05258" "00103061" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081194" "05258" "00103062" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081195" "05258" "00103063" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081196" "05258" "00103064" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081197" "05258" "00103065" "00011" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000081198" "05258" "00103066" "00011" "Unknown" "" "histology curvilinear (lymphocyte)" "3y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081199" "05258" "00103067" "00011" "Unknown" "" "histology curvilinear (lymphocyte)" "3y6m" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081200" "05258" "00103068" "00011" "Unknown" "" "" "2y6m" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081201" "05258" "00103069" "00011" "Unknown" "" "histology no granular osmiophilic deposits" "3y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081202" "05258" "00103070" "00011" "Unknown" "" "histology curvilinear (lymphocyte)" "2y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000081203" "05258" "00103071" "00011" "Unknown" "" "histology curvilinear (skin)" "" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000154726" "05258" "00206936" "00006" "Familial, autosomal recessive" "" "" "3y" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154727" "05258" "00206937" "00006" "Familial, autosomal recessive" "" "" "4y6m" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154728" "05258" "00206938" "00006" "Familial, autosomal recessive" "" "" "3y6m" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154729" "05258" "00206939" "00006" "Familial, autosomal recessive" "" "" "3y" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154730" "05258" "00206940" "00006" "Familial, autosomal recessive" "" "" "4y" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154731" "05258" "00206941" "00006" "Familial, autosomal recessive" "" "" "1y6m" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154732" "05258" "00206942" "00006" "Familial, autosomal recessive" "" "" "4y" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154733" "05258" "00206943" "00006" "Familial, autosomal recessive" "" "" "4y" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154734" "05258" "00206944" "00006" "Familial, autosomal recessive" "" "" "4y" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154735" "05258" "00206945" "00006" "Familial, autosomal recessive" "" "histology curvilinear" "3y" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154736" "05258" "00206946" "00006" "Familial, autosomal recessive" "" "" "1y6m" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154737" "05258" "00206947" "00006" "Familial, autosomal recessive" "" "histology curvilinear" "3y" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154738" "05258" "00206948" "00006" "Familial, autosomal recessive" "" "histology curvilinear" "3y" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154739" "05258" "00206949" "00006" "Familial, autosomal recessive" "" "histology curvilinear" "3y" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154740" "05258" "00206950" "00006" "Familial, autosomal recessive" "" "histology curvilinear" "3y" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154741" "05258" "00206951" "00006" "Familial, autosomal recessive" "" "histology curvilinear" "3y" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154742" "05258" "00206952" "00006" "Familial, autosomal recessive" "" "histology curvilinear" "4y" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154743" "05258" "00206953" "00006" "Familial, autosomal recessive" "" "" "4y6m" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154744" "05258" "00206954" "00006" "Familial, autosomal recessive" "" "histology curvilinear" "3y" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154745" "05258" "00206955" "00006" "Familial, autosomal recessive" "" "histology curvilinear" "4y" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154746" "05258" "00206956" "00006" "Familial, autosomal recessive" "" "histology curvilinear" "3y6m" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154747" "05258" "00206957" "00006" "Familial, autosomal recessive" "" "histology curvilinear" "4y" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154748" "05258" "00206958" "00006" "Familial, autosomal recessive" "" "histology curvilinear" "" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154749" "05258" "00206959" "00006" "Familial, autosomal recessive" "" "histology curvilinear" "3y6m" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154751" "05258" "00206961" "00006" "Familial, autosomal recessive" "" "" "9y" "" "" "" "" "" "" "" "CLN-2" "juvenile NCL" "" "0000154752" "05258" "00206962" "00006" "Familial, autosomal recessive" "46y" "" "9y" "" "" "" "" "" "" "" "CLN-2" "juvenile NCL" "" "0000154753" "05258" "00206963" "00011" "Familial, autosomal recessive" "" "histology curvilinear, fingerprint consensed" "9y" "" "" "" "" "" "" "" "CLN-2" "juvenile NCL" "" "0000154754" "05258" "00206964" "00011" "Familial, autosomal recessive" "" "histology curvilinear" "2y" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154755" "05258" "00206965" "00011" "Familial, autosomal recessive" "" "histology curvilinear" "3y" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154756" "05258" "00206966" "00011" "Familial, autosomal recessive" "" "histology curvilinear" "10y" "" "" "" "" "" "" "" "CLN-2" "juvenile NCL" "" "0000154757" "05258" "00206967" "00011" "Familial, autosomal recessive" "17y" "histology fingerprint, condensed" "5y" "" "" "" "" "" "" "" "CLN-2" "juvenile NCL" "" "0000154758" "05258" "00206968" "00011" "Familial, autosomal recessive" "" "" "5y" "" "" "" "" "" "" "" "CLN-2" "juvenile NCL" "" "0000154759" "05258" "00206969" "00011" "Familial, autosomal recessive" "" "" "3y" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154760" "05258" "00206970" "00011" "Familial, autosomal recessive" "" "" "2y6m" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154761" "05258" "00206971" "00011" "Familial, autosomal recessive" "" "histology curvilinear, fingerprint consensed, granular osmiophilic deposits" "9y" "" "" "" "" "" "" "" "CLN-2" "juvenile NCL" "" "0000154762" "05258" "00206972" "00011" "Familial, autosomal recessive" "" "" "5y" "" "" "" "" "" "" "" "CLN-2" "juvenile NCL" "" "0000154763" "05258" "00206973" "00011" "Familial, autosomal recessive" "" "histology curvilinear" "5y" "" "" "" "" "" "" "" "CLN-2" "juvenile NCL" "" "0000154764" "00198" "00206974" "00011" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154765" "05258" "00206975" "00011" "Familial, autosomal recessive" "" "" "3y" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154766" "05258" "00206976" "00011" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154767" "05258" "00206977" "00011" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154768" "05258" "00206978" "00011" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154769" "05258" "00206979" "00011" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154770" "05258" "00206980" "00011" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154771" "05258" "00206981" "00011" "Familial, autosomal recessive" "" "cognitive and progressive motor impairment; dystonia–parkinsonism, cognitive impairment, gait ataxia and apraxia, and pyramidal signs; no epilepsy or visual damage; histology typical curvilinear bodies" "6y" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154772" "05258" "00206982" "00011" "Familial, autosomal recessive" "" "cognitive and progressive motor impairment; dystonia–parkinsonism, cognitive impairment, gait ataxia and apraxia, and pyramidal signs; no epilepsy or visual damage; histology typical curvilinear bodies" "7y" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154773" "05258" "00206983" "00011" "Familial, autosomal recessive" "" "cognitive and progressive motor impairment; dystonia–parkinsonism, cognitive impairment, gait ataxia and apraxia, and pyramidal signs; no epilepsy or visual damage; histology typical curvilinear bodies" "9y" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154774" "05258" "00206984" "00011" "Familial, autosomal recessive" "" "progressive cognitive decline and motor deterioration, epilepsy, chorea" "4y" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154775" "05258" "00206985" "00011" "Familial, autosomal recessive" "" "seizures, progressive decreased cognitive function, motor dysfunction" "3y" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154776" "05258" "00206986" "00011" "Familial, autosomal recessive" "" "diagnosed by enzyme analysis and is pre-symptomatic at one year of age" "" "" "" "" "" "" "" "" "" "not yet symptomatic" "" "0000154779" "00198" "00206989" "00011" "Familial, autosomal recessive" "" "Presented with speech and language delay, microcephaly. Thin corpus callosum" "" "" "" "" "" "" "" "" "" "" "" "0000154780" "05258" "00206990" "00011" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154781" "00198" "00206991" "00011" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154782" "05258" "00206992" "00011" "Familial, autosomal recessive" "" "impaired motor funcation, cerebellar and cerebral atrophy, progressive visual loss and seizures" "" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154783" "05258" "00206993" "00011" "Familial, autosomal recessive" "" "impaired motor funcation, cerebellar and cerebral atrophy, progressive visual loss and seizures" "" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154784" "05258" "00206994" "00011" "Familial, autosomal recessive" "" "impaired motor funcation, cerebellar and cerebral atrophy, progressive visual loss and seizures" "" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154785" "05258" "00206995" "00011" "Familial, autosomal recessive" "" "impaired motor funcation, cerebellar and cerebral atrophy, progressive visual loss and seizures" "" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154786" "05258" "00206996" "00011" "Familial, autosomal recessive" "" "impaired motor funcation, cerebellar and cerebral atrophy, progressive visual loss and seizures" "" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154787" "05258" "00206997" "00011" "Familial, autosomal recessive" "" "impaired motor funcation, cerebellar and cerebral atrophy, progressive visual loss and seizures" "" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154788" "05258" "00206998" "00011" "Familial, autosomal recessive" "20y" "slow talker. Lost motor 10 y, vision 12/13. Still alive and aware 20" "5y" "" "" "" "" "" "" "" "CLN-2" "juvenile NCL" "" "0000154789" "05258" "00206999" "00011" "Familial, autosomal recessive" "12y" "Onset 4 y but normal talking. Learning delay. No vision loss. Regression from 10 y" "4y" "" "" "" "" "" "" "" "CLN-2" "juvenile NCL" "" "0000154790" "05258" "00207000" "00011" "Familial, autosomal recessive" "14y" "normal development. Onset 9-10 y.then regression. Loss of vision 12 y." "9y" "" "" "" "" "" "" "" "CLN-2" "juvenile NCL" "" "0000154791" "05258" "00207001" "00011" "Familial, autosomal recessive" "" "no language, seizures from 2d, developmental delay; 5y-no regression, still acquiring new skills and word occasionally; may have seizure gene too (VUS variant)" "0y" "" "" "" "" "" "" "" "CLN-2" "congenital NCL" "" "0000154792" "05258" "00207002" "00011" "Familial, autosomal recessive" "" "Language delay 3ys., Vision Problems 5.5y, first GM Seizure 5.5y, motor decline 6ys." "3y" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154793" "05258" "00207003" "00011" "Familial, autosomal recessive" "" "First seizure 3y10month, 4ys stagnation of language + motor development" "3y10m" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154794" "05258" "00207004" "00011" "Familial, autosomal recessive" "" "Onset 4ys epilepsy, walking regression with 6-7y, Language development slight abnormal" "5y10m" "" "" "" "" "" "" "" "CLN-2" "juvenile NCL" "" "0000154795" "05258" "00207005" "00011" "Familial, autosomal recessive" "" "age 4 seizures during sleep. Normal language age 4. Problems school age 10. EEG normal. Atrophy in cerebellum. Ataxia at 11 yr. Myoclonus. 14 yr behaviour changes. Photostimulation. ERG normal; treated Brineura" "4y" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154796" "05258" "00207006" "00011" "Familial, autosomal recessive" "16y" "Seizures unsteady gait, language delay age 5, less coordination 6-7, seizures age 7" "5y" "" "" "" "" "" "" "" "CLN-2" "juvenile NCL" "" "0000154797" "05258" "00207007" "00011" "Familial, autosomal recessive" "14y" "6y-seizures; 7y-trouble reading; 8y-motor difficulties and coordination; 10y-intellectual disability" "6y" "" "" "" "" "" "" "" "CLN-2" "juvenile NCL" "" "0000154798" "05258" "00207008" "00011" "Familial, autosomal recessive" "" "" "2y4m" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154799" "05258" "00207009" "00011" "Familial, autosomal recessive" "" "histology curvilinear bodies (buffy coat)" "2y9m" "" "" "" "" "" "" "" "CLN-2" "late infantile NCL" "" "0000154800" "05258" "00207010" "00011" "Familial, autosomal recessive" "" "Homoplasmic mtDNA m.3310C>T (P2S) in ND1 – also harbored by mother, who is also homoplasmic" "5y10m" "" "" "" "" "" "" "" "CLN-2" "juvenile NCL" "" "0000154801" "05258" "00207011" "00011" "Familial, autosomal recessive" "" "From age 5-6 deterioration in fine and gross motor systems, speech and cognitive decline. Brain MRI demonstrating lack  of  cerebral  hemisphere  volume, hypomyelination  and  cerebellar  hypoplasia. No seizures or visual decline so far. No seizures or visual decline so far" "5y6m" "" "" "" "" "" "" "" "CLN-2" "juvenile NCL" "" "0000210561" "04201" "00206960" "00006" "Familial, autosomal recessive" "" "histology curvilinear" "04y" "" "" "" "" "" "" "" "SCAR7" "spinocerebellar ataxia" "" "0000210562" "04201" "00206987" "00011" "Familial, autosomal recessive" "" "gait, balance and neurocognitive abnormalities; common mutation described as p.(Phe169*) by Dy" "04y" "10y" "" "" "" "" "" "" "SCAR7" "spinocerebellar ataxia" "" "0000210563" "04201" "00206988" "00011" "Familial, autosomal recessive" "" "normal muscle and skin biopsy" "11y" "" "" "" "" "" "" "" "SCAR7" "complex hereditary spastic paraplegia" "" "0000230127" "05521" "00303044" "00006" "Familial, autosomal recessive" "" "Focal epilepsy, unclassified; age onset unknown" "" "" "" "" "" "" "" "" "" "seizures" "" "0000230129" "05521" "00303046" "00006" "Familial, autosomal recessive" "" "Unclassified epilepsy; age onset childhood" "" "" "" "" "" "" "" "" "" "seizures" "" "0000233286" "00064" "00307860" "03765" "Familial, autosomal recessive" "" "Childhood-onset, Central hypotonia, Optic atrophy, Visual loss, Optic nerve misrouting, Neurodegeneration, Hyporeflexia, Developmental regression, Rod-cone dystrophy" "" "05y09m" "" "" "" "" "" "" "" "" "" "0000233287" "01649" "00307861" "03765" "Familial, autosomal recessive" "" "Nystagmus, Seizures, Global developmental delay, Fever, Abnormality of the cerebral white matter, Arachnoid cyst" "04y01m" "05y03m" "" "" "" "" "" "" "" "" "" "0000233288" "01649" "00307862" "03765" "Familial, autosomal recessive" "" "Intellectual disability, Ataxia, Motor delay, Cerebellar atrophy, Failure to thrive, Vomiting" "" "04y04m" "" "" "" "" "" "" "" "" "" "0000233289" "01649" "00307863" "03765" "Familial, autosomal recessive" "" "Seizures, Dystonia, Tremor, Absent speech, Global brain atrophy, Developmental regression, Loss of ability to walk in early childhood" "02y06m" "05y" "" "" "" "" "" "" "" "" "" "0000233290" "01649" "00307864" "03765" "Familial, autosomal recessive" "" "Ataxia, Cerebellar hypoplasia, Generalized-onset seizure, Developmental regression, Generalized myoclonic seizures, Seizures" "03y" "04y01m" "" "" "" "" "" "" "" "" "" "0000233291" "01649" "00307865" "03765" "Familial, autosomal recessive" "" "" "?" "04y09m" "" "" "" "" "" "" "" "" "" "0000233292" "01649" "00307866" "03765" "Familial, autosomal recessive" "" "Visual impairment, Delayed speech and language development, Seizures, Developmental regression\r\nVisual impairment, Delayed speech and language development, Seizures, Developmental regression" "" "01y11m" "" "" "" "" "" "" "" "" "" "0000233293" "01649" "00307867" "03765" "Familial, autosomal recessive" "" "Intellectual disability, Seizures, Failure to thrive, Neurodegeneration, Generalized-onset seizure, Developmental regression" "03y" "06y04m" "" "" "" "" "" "" "" "" "" "0000233294" "01649" "00307868" "03765" "Familial, autosomal recessive" "" "Seizures, Cerebellar atrophy, Myoclonus, Cerebral cortical atrophy, Loss of speech, Developmental regression" "03y" "05y" "" "" "" "" "" "" "" "" "" "0000233295" "01649" "00307869" "03765" "Familial, autosomal recessive" "" "Seizures, Developmental regression" "?" "04y03m" "" "" "" "" "" "" "" "" "" "0000253194" "05793" "00334481" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000256915" "00139" "00361510" "00006" "Familial, autosomal recessive" "8y" "not syndromic; Neurodegeneration and myoclonic jerks" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000269736" "00198" "00374526" "00006" "Familial, autosomal recessive" "" "Seizures, shaking of hand, shivering of body. MRI showed prominent cerebral cortical sulci and atrophy of ventricles, severe dysfunction of the visual pathway and speech delay" "" "" "" "" "" "" "" "" "" "neuronal ceroid lipofuscinosis" "" "0000269737" "00198" "00374527" "00006" "Familial, autosomal recessive" "" "Neuroregression, seizures, encephalopathy, muscle wasting and weakness, delayed motor development, microcephaly, joint contractures, ID and impaired vision and hearing. MRI of the brain showed cerebral and cerebellar atrophy" "" "" "" "" "" "" "" "" "" "epilepsy, microcephaly, intellectual disability" "" "0000269738" "00198" "00374528" "00006" "Familial, autosomal recessive" "" "Seizures, developmental regression and is currently on anti-epileptic medication. MRI showed diffuse cerebellar atrophy and EEG showed bilateral occipital epileptiform abnormalities" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000270084" "00198" "00374874" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "ataxia" "" "0000270085" "00198" "00374875" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000277255" "05258" "00383470" "00000" "Familial, autosomal recessive" "" "VEP results: giant" "" "4y3m" "" "" "" "" "" "" "" "lipofuscinosis, ceroid, neuronal, type 2 (CLN-2)" "" "0000277256" "05258" "00383471" "00000" "Familial, autosomal recessive" "" "retinal dysfunction on ERG" "" "4y8m" "" "" "" "" "" "" "" "lipofuscinosis, ceroid, neuronal, type 2 (CLN-2)" "" "0000277257" "05258" "00383472" "00000" "Familial, autosomal recessive" "" "Myopia, , VEP results: atypical" "" "4y3m" "" "" "" "" "" "" "" "lipofuscinosis, ceroid, neuronal, type 2 (CLN-2)" "" "0000277258" "05258" "00383473" "00000" "Familial, autosomal recessive" "" "retinal dysfunction on ERG, VEP results: giant" "" "3y3m" "" "" "" "" "" "" "" "lipofuscinosis, ceroid, neuronal, type 2 (CLN-2)" "" "0000277259" "05258" "00383474" "00000" "Familial, autosomal recessive" "" "VEP results: giant" "" "4y4m" "" "" "" "" "" "" "" "lipofuscinosis, ceroid, neuronal, type 2 (CLN-2)" "" "0000277260" "05258" "00383475" "00000" "Familial, autosomal recessive" "" "retinal dysfunction on ERG, VEP results: giant" "" "4y7m" "" "" "" "" "" "" "" "lipofuscinosis, ceroid, neuronal, type 2 (CLN-2)" "" "0000277261" "05258" "00383476" "00000" "Familial, autosomal recessive" "" "VEP results: not interpretable" "" "5y" "" "" "" "" "" "" "" "lipofuscinosis, ceroid, neuronal, type 2 (CLN-2)" "" "0000277262" "05258" "00383477" "00000" "Familial, autosomal recessive" "" "Astigmatism, VEP results: normal" "" "5y" "" "" "" "" "" "" "" "lipofuscinosis, ceroid, neuronal, type 2 (CLN-2)" "" "0000277263" "05258" "00383478" "00000" "Familial, autosomal recessive" "" "VEP results: atypical" "" "3y8m" "" "" "" "" "" "" "" "lipofuscinosis, ceroid, neuronal, type 2 (CLN-2)" "" "0000278295" "04214" "00384510" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Late-infantile neuronal ceroid lipofuscinosis" "" "" "0000278308" "05258" "00384524" "00000" "Familial, autosomal recessive" "18y" "" "6y" "" "Vision problems" "" "" "" "" "" "lipofuscinosis, ceroid, neuronal, type 1" "lipofuscinosis, ceroid, neuronal" "" "0000278309" "05258" "00384525" "00000" "Familial, autosomal recessive" "18y" "" "8y" "" "Vision problems" "" "" "" "" "" "lipofuscinosis, ceroid, neuronal, type 1" "lipofuscinosis, ceroid, neuronal" "" "0000278310" "05258" "00384526" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "lipofuscinosis, ceroid, neuronal, type 1" "lipofuscinosis, ceroid, neuronal" "" "0000278312" "05258" "00384528" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "lipofuscinosis, ceroid, neuronal, type 1" "lipofuscinosis, ceroid, neuronal" "" "0000278313" "05258" "00384529" "00000" "Familial, autosomal recessive" "2y10m" "" "1y" "" "regression" "" "" "" "" "" "lipofuscinosis, ceroid, neuronal, type 1" "lipofuscinosis, ceroid, neuronal" "" "0000278314" "05258" "00384530" "00000" "Familial, autosomal recessive" "2y10m" "" "1y" "" "regression" "" "" "" "" "" "lipofuscinosis, ceroid, neuronal, type 1" "lipofuscinosis, ceroid, neuronal" "" "0000278315" "05258" "00384531" "00000" "Familial, autosomal recessive" "6y" "" "3y6m" "" "Attention deficit" "" "" "" "" "" "lipofuscinosis, ceroid, neuronal, type 2" "lipofuscinosis, ceroid, neuronal" "" "0000278316" "05258" "00384532" "00000" "Familial, autosomal recessive" "6y" "" "16m" "" "Hyperactivity" "" "" "" "" "" "lipofuscinosis, ceroid, neuronal, type 2" "lipofuscinosis, ceroid, neuronal" "" "0000281841" "05258" "00388286" "00000" "Familial, autosomal recessive" "4y" "Cognitive and motor deterioration, speech delay, tonic-clonic seizures, muscular hypotonia, MRI signs of brain atrophy, damage of optic nerves" "2y" "" "" "" "" "" "" "" "lipofuscinosis, ceroid, neuronal, type 2 (CLN-2)" "lipofuscinosis, ceroid, neuronal (CLN)" "" "0000322404" "02087" "00431835" "01602" "Unknown" "" "SIDS" "" "" "" "" "" "" "" "" "" "" "" "0000344328" "00198" "00455795" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SCAR7" "neurogenetic diseases" "" "0000344776" "00198" "00456257" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "lysosomal storage disorder" "" "0000353186" "00198" "00468034" "00006" "Familial, autosomal recessive" "5y" "see paper; ..., ataxia; dysmetria; no oculomotor apraxia; no intention tremor; developmental delay; intellectual disability; slurred speech, three-word sentences; no hypotonia; no pyramidal sign; no extrapyramidal sign; epileptic seizure;  ; MRI cerebellar atrophy/hypoplasia, no brainstem atrophy" "3y" "" "epilepsy" "" "" "" "" "" "SCAR7" "epilepsy" "" "0000354615" "00198" "00469462" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" ## Screenings ## Do not remove or alter this header ## ## Count = 464 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000080918" "00080806" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000103201" "00102749" "0" "00006" "00006" "2013-01-29 13:14:48" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000103202" "00102750" "0" "00006" "00006" "2013-01-29 13:14:48" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000103203" "00102751" "0" "00006" "00006" "2013-01-29 13:14:48" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000103204" "00102752" "0" "00006" "00006" "2013-01-29 13:14:48" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000103205" "00102753" "0" "00006" "00006" "2013-01-29 13:14:48" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000103206" "00102754" "0" "00006" "00006" "2013-01-29 13:14:48" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000103207" "00102755" "0" "00006" "00006" "2013-01-29 13:14:48" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000103208" "00102756" "0" "00006" "00006" "2013-01-29 13:14:48" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000103209" "00102757" "0" "00006" "00006" "2013-01-29 13:14:48" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000103210" "00102758" "0" "00006" "00006" "2013-01-29 13:14:48" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000103211" "00102759" "0" "00006" "00006" "2013-01-29 13:14:48" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000103212" "00102760" "0" "00006" "00006" "2013-01-29 13:14:48" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000103213" "00102761" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103214" "00102762" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103215" "00102763" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103216" "00102764" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103217" "00102765" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103218" "00102766" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103219" "00102767" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103220" "00102768" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103221" "00102769" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103222" "00102770" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103223" "00102771" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103224" "00102772" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103225" "00102773" "0" "00011" "00006" "2013-01-29 13:14:48" "" "" "SEQ" "DNA" "" "" "0000103226" "00102774" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103227" "00102775" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103228" "00102776" "0" "00011" "00006" "2013-01-29 13:14:48" "" "" "SEQ" "DNA" "" "" "0000103229" "00102777" "0" "00011" "00006" "2013-01-29 13:14:48" "" "" "SEQ" "DNA" "" "" "0000103230" "00102778" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103231" "00102779" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103232" "00102780" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103233" "00102781" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103234" "00102782" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103235" "00102783" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103236" "00102784" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103237" "00102785" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103238" "00102786" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103239" "00102787" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103240" "00102788" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103241" "00102789" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103242" "00102790" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103243" "00102791" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103244" "00102792" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103245" "00102793" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103246" "00102794" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103247" "00102795" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103248" "00102796" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103249" "00102797" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103250" "00102798" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103251" "00102799" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103252" "00102800" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103253" "00102801" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103254" "00102802" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103255" "00102803" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103256" "00102804" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103257" "00102805" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103258" "00102806" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103259" "00102807" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103260" "00102808" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103261" "00102809" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103262" "00102810" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103263" "00102811" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103264" "00102812" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103265" "00102813" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103266" "00102814" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103267" "00102815" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103268" "00102816" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103269" "00102817" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103270" "00102818" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103271" "00102819" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103272" "00102820" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103273" "00102821" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103274" "00102822" "0" "00011" "00006" "2013-01-29 13:14:48" "" "" "SEQ" "DNA" "" "" "0000103275" "00102823" "0" "00011" "00006" "2013-01-29 13:14:48" "" "" "SEQ" "DNA" "" "" "0000103276" "00102824" "0" "00011" "00006" "2013-01-29 13:14:48" "" "" "SEQ" "DNA" "" "" "0000103277" "00102825" "0" "00011" "00006" "2013-01-29 13:14:48" "" "" "SEQ" "DNA" "" "" "0000103278" "00102826" "0" "00011" "00006" "2013-01-29 13:14:48" "" "" "SEQ" "DNA" "" "" "0000103279" "00102827" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103280" "00102828" "0" "00011" "00006" "2013-01-29 13:14:48" "" "" "SEQ" "DNA" "" "" "0000103281" "00102829" "0" "00011" "00006" "2013-01-29 13:14:48" "" "" "SEQ" "DNA" "" "" "0000103282" "00102830" "1" "00011" "00006" "2013-01-29 13:14:47" "00006" "2017-04-04 09:54:50" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000103283" "00102831" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103284" "00102832" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103285" "00102833" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103286" "00102834" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103287" "00102835" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103288" "00102836" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103289" "00102837" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103290" "00102838" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103291" "00102839" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103292" "00102840" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103293" "00102841" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103294" "00102842" "0" "00011" "00006" "2013-01-29 13:14:48" "" "" "SEQ" "DNA" "" "" "0000103295" "00102843" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103296" "00102844" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103297" "00102845" "0" "00011" "00006" "2013-01-29 13:14:48" "" "" "SEQ" "DNA" "" "" "0000103298" "00102846" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103299" "00102847" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103300" "00102848" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103301" "00102849" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103302" "00102850" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103303" "00102851" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103304" "00102852" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103305" "00102853" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103306" "00102854" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103307" "00102855" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103308" "00102856" "0" "00011" "00006" "2013-01-29 13:14:47" "" "" "SEQ" "DNA" "" "" "0000103309" "00102857" "0" 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"2017-04-04 15:46:30" "" "" "SEQ" "DNA" "" "" "0000103535" "00103082" "1" "00006" "00006" "2017-04-04 16:00:40" "" "" "SEQ" "DNA" "" "" "0000103536" "00103083" "1" "00006" "00006" "2017-04-04 16:12:13" "" "" "SEQ" "DNA" "" "" "0000103538" "00103085" "1" "00006" "00006" "2017-04-04 17:05:35" "" "" "SEQ" "DNA" "" "" "0000103539" "00103086" "1" "00006" "00006" "2017-04-04 17:05:35" "" "" "SEQ" "DNA" "" "" "0000103540" "00103087" "1" "00006" "00006" "2017-04-04 17:05:35" "" "" "SEQ" "DNA" "" "" "0000103541" "00103088" "1" "00006" "00006" "2017-04-04 17:05:35" "" "" "SEQ" "DNA" "" "" "0000103542" "00103089" "1" "00006" "00006" "2017-04-04 17:05:35" "" "" "SEQ" "DNA" "" "" "0000103543" "00103090" "1" "00006" "00006" "2017-04-04 17:05:35" "" "" "SEQ" "DNA" "" "" "0000103544" "00103091" "1" "00006" "00006" "2017-04-04 17:05:35" "" "" "SEQ" "DNA" "" "" "0000103545" "00103092" "1" "00006" "00006" "2017-04-04 17:05:35" "" "" "SEQ" "DNA" "" "" "0000103546" "00103093" "1" "00006" "00006" "2017-04-04 17:05:35" "" "" "SEQ" "DNA" "" "" "0000103547" "00103094" "1" "00006" "00006" "2017-04-04 17:05:35" "" "" "SEQ" "DNA" "" "" "0000103548" "00103095" "1" "00006" "00006" "2017-04-04 17:05:35" "" "" "SEQ" "DNA" "" "" "0000103549" "00103096" "1" "00006" "00006" "2017-04-04 17:05:35" "" "" "SEQ" "DNA" "" "" "0000103550" "00103097" "1" "00006" "00006" "2017-04-04 17:05:35" "" "" "SEQ" "DNA" "" "" "0000103551" "00103098" "1" "00006" "00006" "2017-04-04 17:05:35" "" "" "SEQ" "DNA" "" "" "0000103552" "00103099" "1" "00006" "00006" "2017-04-04 17:05:35" "" "" "SEQ" "DNA" "" "" "0000103553" "00103100" "1" "00006" "00006" "2017-04-04 17:05:35" "" "" "SEQ" "DNA" "" "" "0000207971" "00206936" "1" "00006" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000207972" "00206937" "1" "00006" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000207973" "00206938" "1" "00006" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000207974" "00206939" "1" "00006" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000207975" "00206940" "1" "00006" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000207976" "00206941" "1" "00006" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000207977" "00206942" "1" "00006" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000207978" "00206943" "1" "00006" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000207979" "00206944" "1" "00006" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000207980" "00206945" "1" "00006" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000207981" "00206946" "1" "00006" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000207982" "00206947" "1" "00006" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000207983" "00206948" "1" "00006" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000207984" "00206949" "1" "00006" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000207985" "00206950" "1" "00006" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000207986" "00206951" "1" "00006" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000207987" "00206952" "1" "00006" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000207988" "00206953" "1" "00006" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000207989" "00206954" "1" "00006" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000207990" "00206955" "1" "00006" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000207991" "00206956" "1" "00006" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000207992" "00206957" "1" "00006" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000207993" "00206958" "1" "00006" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000207994" "00206959" "1" "00006" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000207995" "00206960" "1" "00006" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000207996" "00206961" "1" "00006" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000207997" "00206962" "1" "00006" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000207998" "00206963" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000207999" "00206964" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000208000" "00206965" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000208001" "00206966" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000208002" "00206967" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000208003" "00206968" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000208004" "00206969" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000208005" "00206970" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000208006" "00206971" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000208007" "00206972" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000208008" "00206973" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000208009" "00206974" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000208010" "00206975" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000208011" "00206976" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000208012" "00206977" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000208013" "00206978" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000208014" "00206979" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000208015" "00206980" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000208016" "00206981" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000208017" "00206982" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000208018" "00206983" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000208019" "00206984" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000208020" "00206985" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000208021" "00206986" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000208022" "00206987" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000208023" "00206988" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000208024" "00206989" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000208025" "00206990" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000208026" "00206991" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000208027" "00206992" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000208028" "00206993" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000208029" "00206994" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000208030" "00206995" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000208031" "00206996" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000208032" "00206997" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000208033" "00206998" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000208034" "00206999" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000208035" "00207000" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000208036" "00207001" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000208037" "00207002" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000208038" "00207003" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000208039" "00207004" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000208040" "00207005" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000208041" "00207006" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000208042" "00207007" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000208043" "00207008" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000208044" "00207009" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000208045" "00207010" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000208046" "00207011" "1" "00011" "00006" "2018-10-31 15:35:34" "" "" "SEQ" "DNA" "" "" "0000291652" "00290484" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291653" "00290485" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291654" "00290486" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291656" "00290488" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291657" "00290489" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291659" "00290491" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291660" "00290492" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000304169" "00303044" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000304171" "00303046" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000309002" "00307860" "1" "03765" "03765" "2020-08-19 23:41:31" "" "" "SEQ-NG" "DNA" "DBS" "" "0000309003" "00307861" "1" "03765" "03765" "2020-08-20 00:02:40" "" "" "SEQ-NG" "DNA" "DBS" "" "0000309004" "00307862" "1" "03765" "03765" "2020-08-20 00:07:22" "" "" "SEQ" "DNA" "DBS" "" "0000309005" "00307863" "1" "03765" "03765" "2020-08-20 00:12:11" "" "" "SEQ" "DNA" "DNA" "" "0000309006" "00307864" "1" "03765" "03765" "2020-08-20 00:17:09" "" "" "SEQ-NG" "DNA" "DBS" "WGS" "0000309007" "00307865" "1" "03765" "03765" "2020-08-20 00:21:44" "" "" "SEQ" "DNA" "DBS" "" "0000309008" "00307866" "1" "03765" "03765" "2020-08-20 00:41:37" "" "" "SEQ-NG" "DNA" "DBS" "" "0000309009" "00307867" "1" "03765" "03765" "2020-08-20 00:46:47" "" "" "SEQ-NG" "DNA" "DBS" "WES" "0000309010" "00307868" "1" "03765" "03765" "2020-08-20 00:54:31" "" "" "SEQ" "DNA" "DBS" "" "0000309011" "00307869" "1" "03765" "03765" "2020-08-20 00:59:10" "" "" "MLPA" "DNA" "EDTA" "" "0000335710" "00334481" "1" "04011" "04011" "2021-03-01 03:42:49" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000362738" "00361510" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "758-gene panel" "0000375720" "00374526" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375721" "00374527" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375722" "00374528" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000376068" "00374874" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000376069" "00374875" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000384695" "00383470" "1" "00000" "03840" "2021-09-29 11:58:04" "" "" "?" "?" "" "" "0000384696" "00383471" "1" "00000" "03840" "2021-09-29 11:58:04" "" "" "?" "?" "" "" "0000384697" "00383472" "1" "00000" "03840" "2021-09-29 11:58:04" "" "" "?" "?" "" "" "0000384698" "00383473" "1" "00000" "03840" "2021-09-29 11:58:04" "" "" "?" "?" "" "" "0000384699" "00383474" "1" "00000" "03840" "2021-09-29 11:58:04" "" "" "?" "?" "" "" "0000384700" "00383475" "1" "00000" "03840" "2021-09-29 11:58:04" "" "" "?" "?" "" "" "0000384701" "00383476" "1" "00000" "03840" "2021-09-29 11:58:04" "" "" "?" "?" "" "" "0000384702" "00383477" "1" "00000" "03840" "2021-09-29 11:58:04" "" "" "?" "?" "" "" "0000384703" "00383478" "1" "00000" "03840" "2021-09-29 11:58:04" "" "" "?" "?" "" "" "0000385735" "00384510" "1" "00000" "03840" "2021-09-29 13:26:10" "" "" "SEQ-NG;SEQ" "DNA" "blood" "WES" "0000385749" "00384524" "1" "00000" "03840" "2021-09-29 17:43:05" "" "" "SEQ" "DNA" "" "" "0000385750" "00384525" "1" "00000" "03840" "2021-09-29 17:43:05" "" "" "SEQ" "DNA" "" "" "0000385751" "00384526" "1" "00000" "03840" "2021-09-29 17:43:05" "" "" "SEQ" "DNA" "" "" "0000385753" "00384528" "1" "00000" "03840" "2021-09-29 17:43:05" "" "" "SEQ" "DNA" "" "" "0000385754" "00384529" "1" "00000" "03840" "2021-09-29 17:43:05" "" "" "SEQ" "DNA" "" "" "0000385755" "00384530" "1" "00000" "03840" "2021-09-29 17:43:05" "" "" "SEQ" "DNA" "" "" "0000385756" "00384531" "1" "00000" "03840" "2021-09-29 17:43:05" "" "" "SEQ" "DNA" "" "" "0000385757" "00384532" "1" "00000" "03840" "2021-09-29 17:43:05" "" "" "SEQ" "DNA" "" "" "0000389527" "00388286" "1" "00000" "03840" "2021-11-03 15:22:26" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000433274" "00431835" "1" "01602" "01602" "2023-02-16 16:25:50" "" "" "SEQ-NG" "DNA" "" "" "0000434462" "00433033" "1" "04178" "04178" "2023-02-28 11:59:37" "" "" "SEQ-NG" "DNA" "Blood" "WES" "0000457411" "00455795" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000457874" "00456257" "1" "00006" "00006" "2024-10-24 08:52:57" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000469700" "00468034" "1" "00006" "00006" "2025-11-07 09:37:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471130" "00469462" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 450 "{{screeningid}}" "{{geneid}}" "0000080918" "TPP1" "0000103201" "TPP1" "0000103202" "TPP1" "0000103203" "TPP1" "0000103204" "TPP1" "0000103205" "TPP1" "0000103206" "TPP1" "0000103207" "TPP1" "0000103208" "TPP1" "0000103209" "TPP1" "0000103210" "TPP1" "0000103211" "TPP1" "0000103212" "TPP1" "0000103213" "TPP1" "0000103214" "TPP1" "0000103215" "TPP1" "0000103216" "TPP1" "0000103217" "TPP1" "0000103218" "TPP1" "0000103219" "TPP1" "0000103220" "TPP1" "0000103221" "TPP1" "0000103222" "TPP1" "0000103223" "TPP1" "0000103224" "TPP1" "0000103225" "TPP1" "0000103226" "TPP1" "0000103227" "TPP1" "0000103228" "TPP1" "0000103229" "TPP1" "0000103230" "TPP1" "0000103231" "TPP1" "0000103232" "TPP1" "0000103233" "TPP1" "0000103234" "TPP1" "0000103235" "TPP1" "0000103236" "TPP1" "0000103237" "TPP1" "0000103238" "TPP1" "0000103239" "TPP1" "0000103240" "TPP1" "0000103241" "TPP1" "0000103242" "TPP1" "0000103243" "TPP1" "0000103244" "TPP1" "0000103245" "TPP1" "0000103246" "TPP1" "0000103247" "TPP1" "0000103248" "TPP1" "0000103249" "TPP1" "0000103250" "TPP1" "0000103251" "TPP1" "0000103252" "TPP1" "0000103253" "TPP1" "0000103254" "TPP1" "0000103255" "TPP1" "0000103256" "TPP1" "0000103257" "TPP1" "0000103258" "TPP1" "0000103259" "TPP1" "0000103260" "TPP1" "0000103261" "TPP1" "0000103262" "TPP1" "0000103263" "TPP1" "0000103264" "TPP1" "0000103265" "TPP1" "0000103266" "TPP1" "0000103267" "TPP1" "0000103268" "TPP1" "0000103269" "TPP1" "0000103270" "TPP1" "0000103271" "TPP1" "0000103272" "TPP1" "0000103273" "TPP1" "0000103274" "TPP1" "0000103275" "TPP1" "0000103276" "TPP1" "0000103277" "TPP1" "0000103278" "TPP1" "0000103279" "TPP1" "0000103280" "TPP1" "0000103281" "TPP1" "0000103282" "TPP1" "0000103283" "TPP1" "0000103284" "TPP1" "0000103285" "TPP1" "0000103286" "TPP1" "0000103287" "TPP1" "0000103288" "TPP1" "0000103289" "TPP1" "0000103290" "TPP1" "0000103291" "TPP1" "0000103292" "TPP1" "0000103293" "TPP1" "0000103294" "TPP1" "0000103295" "TPP1" "0000103296" "TPP1" "0000103297" "TPP1" "0000103298" "TPP1" "0000103299" "TPP1" "0000103300" "TPP1" "0000103301" "TPP1" "0000103302" "TPP1" "0000103303" "TPP1" "0000103304" "TPP1" "0000103305" "TPP1" "0000103306" "TPP1" "0000103307" "TPP1" "0000103308" "TPP1" "0000103309" "TPP1" "0000103310" "TPP1" "0000103311" "TPP1" "0000103312" "TPP1" "0000103313" "TPP1" "0000103314" "TPP1" "0000103315" "TPP1" "0000103316" "TPP1" "0000103317" "TPP1" "0000103318" "TPP1" "0000103319" "TPP1" "0000103320" "TPP1" "0000103321" "TPP1" "0000103322" "TPP1" "0000103323" "TPP1" "0000103324" "TPP1" "0000103325" "TPP1" "0000103326" "TPP1" "0000103327" "TPP1" "0000103328" "TPP1" "0000103329" "TPP1" "0000103330" "TPP1" "0000103331" "TPP1" "0000103332" "TPP1" "0000103333" "TPP1" "0000103334" "TPP1" "0000103335" "TPP1" "0000103336" "TPP1" "0000103337" "TPP1" "0000103338" "TPP1" "0000103339" "TPP1" "0000103340" "TPP1" "0000103341" "TPP1" "0000103342" "TPP1" "0000103343" "TPP1" "0000103344" "TPP1" "0000103345" "TPP1" "0000103346" "TPP1" "0000103347" "TPP1" "0000103348" "TPP1" "0000103349" "TPP1" "0000103350" "TPP1" "0000103351" "TPP1" "0000103352" "TPP1" "0000103353" "TPP1" "0000103354" "TPP1" "0000103355" "TPP1" "0000103356" "TPP1" "0000103357" "TPP1" "0000103358" "TPP1" "0000103359" "TPP1" "0000103360" "TPP1" "0000103361" "TPP1" "0000103362" "TPP1" "0000103363" "TPP1" "0000103364" "TPP1" "0000103365" "TPP1" "0000103366" "TPP1" "0000103367" "TPP1" "0000103368" "TPP1" "0000103369" "TPP1" "0000103370" "TPP1" "0000103371" "TPP1" "0000103372" "TPP1" "0000103373" "TPP1" "0000103374" "TPP1" "0000103375" "TPP1" "0000103376" "TPP1" "0000103384" "TPP1" "0000103385" "TPP1" "0000103386" "TPP1" "0000103387" "TPP1" "0000103388" "TPP1" "0000103389" "TPP1" "0000103390" "TPP1" "0000103391" "TPP1" "0000103392" "TPP1" "0000103393" "TPP1" "0000103394" "TPP1" "0000103395" "TPP1" "0000103396" "TPP1" "0000103397" "TPP1" "0000103398" "TPP1" "0000103399" "TPP1" "0000103400" "TPP1" "0000103401" "TPP1" "0000103402" "TPP1" "0000103403" "TPP1" "0000103404" "TPP1" "0000103405" "TPP1" "0000103406" "TPP1" "0000103407" "TPP1" "0000103408" "TPP1" "0000103409" "TPP1" "0000103410" "TPP1" "0000103411" "TPP1" "0000103412" "TPP1" "0000103413" "TPP1" "0000103414" "TPP1" "0000103415" "TPP1" "0000103416" "TPP1" "0000103417" "TPP1" "0000103418" "TPP1" "0000103419" "TPP1" "0000103420" "TPP1" "0000103421" "TPP1" "0000103422" "TPP1" "0000103423" "TPP1" "0000103424" "TPP1" "0000103425" "TPP1" "0000103426" "TPP1" "0000103427" "TPP1" "0000103428" "TPP1" "0000103429" "TPP1" "0000103430" "TPP1" "0000103431" "TPP1" "0000103432" "TPP1" "0000103433" "TPP1" "0000103434" "TPP1" "0000103435" "TPP1" "0000103436" "TPP1" "0000103437" "TPP1" "0000103438" "TPP1" "0000103439" "TPP1" "0000103440" "TPP1" "0000103441" "TPP1" "0000103442" "TPP1" "0000103443" "TPP1" "0000103444" "TPP1" "0000103445" "TPP1" "0000103446" "TPP1" "0000103447" "TPP1" "0000103448" "TPP1" "0000103449" "TPP1" "0000103450" "TPP1" "0000103451" "TPP1" "0000103452" "TPP1" "0000103453" "TPP1" "0000103454" "TPP1" "0000103455" "TPP1" "0000103456" "TPP1" "0000103457" "TPP1" "0000103458" "TPP1" "0000103459" "TPP1" "0000103460" "TPP1" "0000103461" "TPP1" "0000103462" "TPP1" "0000103463" "TPP1" "0000103464" "TPP1" "0000103465" "TPP1" "0000103466" "TPP1" "0000103467" "TPP1" "0000103468" "TPP1" "0000103469" "TPP1" "0000103470" "TPP1" "0000103471" "TPP1" "0000103472" "TPP1" "0000103473" "TPP1" "0000103474" "TPP1" "0000103475" "TPP1" "0000103476" "TPP1" "0000103477" "TPP1" "0000103478" "TPP1" "0000103479" "TPP1" "0000103480" "TPP1" "0000103481" "TPP1" "0000103482" "TPP1" "0000103483" "TPP1" "0000103484" "TPP1" "0000103485" "TPP1" "0000103486" "TPP1" "0000103487" "TPP1" "0000103488" "TPP1" "0000103489" "TPP1" "0000103490" "TPP1" "0000103491" "TPP1" "0000103492" "TPP1" "0000103493" "TPP1" "0000103494" "TPP1" "0000103495" "TPP1" "0000103496" "TPP1" "0000103497" "TPP1" "0000103498" "TPP1" "0000103499" "TPP1" "0000103500" "TPP1" "0000103501" "TPP1" "0000103502" "TPP1" "0000103503" "TPP1" "0000103504" "TPP1" "0000103505" "TPP1" "0000103506" "TPP1" "0000103507" "TPP1" "0000103508" "TPP1" "0000103509" "TPP1" "0000103510" "TPP1" "0000103511" "TPP1" "0000103512" "TPP1" "0000103513" "TPP1" "0000103514" "TPP1" "0000103515" "TPP1" "0000103516" "TPP1" "0000103517" "TPP1" "0000103518" "TPP1" "0000103519" "TPP1" "0000103520" "TPP1" "0000103521" "TPP1" "0000103522" "TPP1" "0000103523" "TPP1" "0000103524" "TPP1" "0000103534" "TPP1" "0000103535" "TPP1" "0000103536" "TPP1" "0000103538" "TPP1" "0000103539" "TPP1" "0000103540" "TPP1" "0000103541" "TPP1" "0000103542" "TPP1" "0000103543" "TPP1" "0000103544" "TPP1" "0000103545" "TPP1" "0000103546" "TPP1" "0000103547" "TPP1" "0000103548" "TPP1" "0000103549" "TPP1" "0000103550" "TPP1" "0000103551" "TPP1" "0000103552" "TPP1" "0000103553" "TPP1" "0000207971" "TPP1" "0000207972" "TPP1" "0000207973" "TPP1" "0000207974" "TPP1" "0000207975" "TPP1" "0000207976" "TPP1" "0000207977" "TPP1" "0000207978" "TPP1" "0000207979" "TPP1" "0000207980" "TPP1" "0000207981" "TPP1" "0000207982" "TPP1" "0000207983" "TPP1" "0000207984" "TPP1" "0000207985" "TPP1" "0000207986" "TPP1" "0000207987" "TPP1" "0000207988" "TPP1" "0000207989" "TPP1" "0000207990" "TPP1" "0000207991" "TPP1" "0000207992" "TPP1" "0000207993" "TPP1" "0000207994" "TPP1" "0000207995" "TPP1" "0000207996" "TPP1" "0000207997" "TPP1" "0000207998" "TPP1" "0000207999" "TPP1" "0000208000" "TPP1" "0000208001" "TPP1" "0000208002" "TPP1" "0000208003" "TPP1" "0000208004" "TPP1" "0000208005" "TPP1" "0000208006" "TPP1" "0000208007" "TPP1" "0000208008" "TPP1" "0000208009" "TPP1" "0000208010" "TPP1" "0000208011" "TPP1" "0000208012" "TPP1" "0000208013" "TPP1" "0000208014" "TPP1" "0000208015" "TPP1" "0000208016" "TPP1" "0000208017" "TPP1" "0000208018" "TPP1" "0000208019" "TPP1" "0000208020" "TPP1" "0000208021" "TPP1" "0000208022" "TPP1" "0000208023" "TPP1" "0000208024" "TPP1" "0000208025" "TPP1" "0000208026" "TPP1" "0000208027" "TPP1" "0000208028" "TPP1" "0000208029" "TPP1" "0000208030" "TPP1" "0000208031" "TPP1" "0000208032" "TPP1" "0000208033" "TPP1" "0000208034" "TPP1" "0000208035" "TPP1" "0000208036" "TPP1" "0000208037" "TPP1" "0000208038" "TPP1" "0000208039" "TPP1" "0000208040" "TPP1" "0000208041" "TPP1" "0000208042" "TPP1" "0000208043" "TPP1" "0000208044" "TPP1" "0000208045" "TPP1" "0000208046" "TPP1" "0000304169" "TPP1" "0000304171" "TPP1" "0000309002" "TPP1" "0000309003" "TPP1" "0000309004" "TPP1" "0000309005" "TPP1" "0000309006" "TPP1" "0000309007" "TPP1" "0000309008" "TPP1" "0000309009" "TPP1" "0000309010" "TPP1" "0000309011" "TPP1" "0000362738" "TPP1" "0000375720" "TPP1" "0000375721" "TPP1" "0000375722" "TPP1" "0000376068" "TPP1" "0000376069" "TPP1" "0000384695" "TPP1" "0000384696" "TPP1" "0000384697" "TPP1" "0000384698" "TPP1" "0000384699" "TPP1" "0000384700" "TPP1" "0000384701" "TPP1" "0000384702" "TPP1" "0000384703" "TPP1" "0000385735" "TPP1" "0000385749" "PPT1" "0000385750" "PPT1" "0000385751" "PPT1" "0000385753" "PPT1" "0000385754" "PPT1" "0000385755" "PPT1" "0000385756" "TPP1" "0000385757" "TPP1" "0000389527" "TPP1" ## 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 = 1074 "{{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}}" "0000130003" "21" "70" "11" "6637945" "6637945" "subst" "4.06085E-6" "01758" "TPP1_000061" "g.6637945T>G" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.6616714T>G" "" "likely pathogenic" "ACMG" "0000130004" "11" "90" "11" "6638271" "6638271" "subst" "0.000235746" "01758" "TPP1_000043" "g.6638271G>A" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "pathogenic" "ACMG" "0000166309" "1" "90" "11" "6636430" "6636430" "subst" "4.06068E-6" "00006" "TPP1_000113" "g.6636430A>C" "" "{PMID:Sun 2013:23418007}" "" "" "" "Germline" "" "" "0" "" "" "g.6615199A>C" "" "pathogenic" "" "0000166310" "2" "90" "11" "6638385" "6638385" "subst" "0.000410279" "00006" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sun 2013:23418007}" "" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "pathogenic" "" "0000166311" "2" "90" "11" "6638385" "6638385" "subst" "0.000410279" "00006" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sun 2013:23418007}" "" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "pathogenic" "" "0000166312" "1" "90" "11" "6636430" "6636430" "subst" "4.06068E-6" "00006" "TPP1_000113" "g.6636430A>C" "" "{PMID:Sun 2013:23418007}" "" "" "" "Germline" "" "" "0" "" "" "g.6615199A>C" "" "pathogenic" "" "0000166313" "2" "90" "11" "6638385" "6638385" "subst" "0.000410279" "00006" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sun 2013:23418007}" "" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "pathogenic" "" "0000166314" "1" "90" "11" "6636430" "6636430" "subst" "4.06068E-6" "00006" "TPP1_000113" "g.6636430A>C" "" "{PMID:Sun 2013:23418007}" "" "" "" "Germline" "" "" "0" "" "" "g.6615199A>C" "" "pathogenic" "" "0000166315" "2" "90" "11" "6638385" "6638385" "subst" "0.000410279" "00006" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sun 2013:23418007}" "" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "pathogenic" "" "0000166316" "2" "90" "11" "6638385" "6638385" "subst" "0.000410279" "00006" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sun 2013:23418007}" "" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "pathogenic" "" "0000166317" "1" "90" "11" "6636430" "6636430" "subst" "4.06068E-6" "00006" "TPP1_000113" "g.6636430A>C" "" "{PMID:Sun 2013:23418007}" "" "" "" "Germline" "" "" "0" "" "" "g.6615199A>C" "" "pathogenic" "" "0000166318" "1" "90" "11" "6636430" "6636430" "subst" "4.06068E-6" "00006" "TPP1_000113" "g.6636430A>C" "" "{PMID:Sun 2013:23418007}" "" "" "" "Germline" "" "" "0" "" "" "g.6615199A>C" "" "pathogenic" "" "0000166319" "2" "90" "11" "6638385" "6638385" "subst" "0.000410279" "00006" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sun 2013:23418007}" "" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "pathogenic" "" "0000166320" "1" "90" "11" "6636430" "6636430" "subst" "4.06068E-6" "00006" "TPP1_000113" "g.6636430A>C" "" "{PMID:Sun 2013:23418007}" "" "" "" "Germline" "" "" "0" "" "" "g.6615199A>C" "" "pathogenic" "" "0000166321" "2" "90" "11" "6638385" "6638385" "subst" "0.000410279" "00006" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sun 2013:23418007}" "" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "pathogenic" "" "0000166322" "1" "90" "11" "6636430" "6636430" "subst" "4.06068E-6" "00006" "TPP1_000113" "g.6636430A>C" "" "{PMID:Sun 2013:23418007}" "" "" "" "Germline" "" "" "0" "" "" "g.6615199A>C" "" "pathogenic" "" "0000166323" "2" "90" "11" "6638385" "6638385" "subst" "0.000410279" "00006" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sun 2013:23418007}" "" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "pathogenic" "" "0000166324" "0" "90" "11" "6636430" "6636430" "subst" "4.06068E-6" "00006" "TPP1_000113" "g.6636430A>C" "" "{PMID:Sun 2013:23418007}" "" "" "" "Germline" "" "" "0" "" "" "g.6615199A>C" "" "pathogenic" "" "0000166325" "10" "90" "11" "6638385" "6638385" "subst" "0.000410279" "00006" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sun 2013:23418007}" "" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "pathogenic" "" "0000166326" "21" "90" "11" "6636430" "6636430" "subst" "4.06068E-6" "00006" "TPP1_000113" "g.6636430A>C" "" "{PMID:Sun 2013:23418007}" "" "" "" "Germline" "" "" "0" "" "" "g.6615199A>C" "" "pathogenic" "" "0000166327" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Zhong 998a:11339651}, {PMID:Zhong 2000:9788728}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166328" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Zhong 998a:11339651}, {PMID:Zhong 2000:9788728}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166329" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Zhong 998a:11339651}, {PMID:Zhong 2000:9788728}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166330" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Zhong 998a:11339651}, {PMID:Zhong 2000:9788728}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166331" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Zhong 998a:11339651}, {PMID:Zhong 2000:9788728}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166332" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Zhong 998a:11339651}, {PMID:Zhong 2000:9788728}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166333" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Zhong 998a:11339651}, {PMID:Zhong 2000:9788728}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166334" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Zhong 998a:11339651}, {PMID:Zhong 2000:9788728}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166335" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Zhong 998a:11339651}, {PMID:Zhong 2000:9788728}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166336" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Zhong 998a:11339651}, {PMID:Zhong 2000:9788728}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166337" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Zhong 998a:11339651}, {PMID:Zhong 2000:9788728}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166338" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Zhong 998a:11339651}, {PMID:Zhong 2000:9788728}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166339" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Zhong 998a:11339651}, {PMID:Zhong 2000:9788728}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166340" "0" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Zhong 998a:11339651}, {PMID:Zhong 2000:9788728}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166341" "0" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Zhong 998a:11339651}, {PMID:Zhong 2000:9788728}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166342" "0" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Zhong 998a:11339651}, {PMID:Zhong 2000:9788728}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166343" "0" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Zhong 998a:11339651}, {PMID:Zhong 2000:9788728}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166344" "0" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Zhong 998a:11339651}, {PMID:Zhong 2000:9788728}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166345" "1" "50" "11" "6640040" "6640040" "subst" "1.21895E-5" "00011" "TPP1_000065" "g.6640040G>A" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6618809G>A" "" "VUS" "" "0000166346" "2" "50" "11" "6640040" "6640040" "subst" "1.21895E-5" "00011" "TPP1_000065" "g.6640040G>A" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6618809G>A" "" "VUS" "" "0000166347" "1" "50" "11" "6640011" "6640011" "subst" "2.8462E-5" "00011" "TPP1_000002" "g.6640011T>C" "" "{PMID:Sleat 1999:10330339}" "" "p.Gln75Gln / Splice defect" "" "Germline" "" "" "0" "" "" "g.6618780T>C" "" "VUS" "" "0000166348" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}" "BmrI+;BsrI+;SfcI-" "g.3556G>C" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166349" "1" "70" "11" "6640007" "6640007" "subst" "0" "00011" "TPP1_000078" "g.6640007C>T" "" "{PMID:Sleat 1999:10330339}" "BslI-" "" "" "Germline" "" "" "0" "" "" "g.6618776C>T" "" "likely pathogenic" "" "0000166350" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166351" "3" "10" "11" "6638938" "6638938" "subst" "0.00226616" "00011" "TPP1_000058" "g.6638938T>C" "" "{PMID:Sleat 1999:10330339}" "HpyCH4V-" "3004A>G (AF039704)" "" "Germline" "" "" "0" "" "" "g.6617707T>C" "" "benign" "" "0000166352" "3" "70" "11" "6636773" "6636773" "subst" "0" "00011" "TPP1_000072" "g.6636773C>T" "" "{PMID:Sleat 1999:10330339}" "MnlI-" "5171G>A (AF039704)" "" "Germline" "" "" "0" "" "" "g.6615542C>T" "" "likely pathogenic" "" "0000166354" "3" "10" "11" "6638938" "6638938" "subst" "0.00226616" "00011" "TPP1_000058" "g.6638938T>C" "" "{PMID:Sleat 1999:10330339}" "HpyCH4V-" "3004A>G (AF039704)" "" "Germline" "" "" "0" "" "" "g.6617707T>C" "" "benign" "" "0000166356" "3" "70" "11" "6636773" "6636773" "subst" "0" "00011" "TPP1_000072" "g.6636773C>T" "" "{PMID:Sleat 1999:10330339}" "MnlI-" "" "" "Germline" "" "" "0" "" "" "g.6615542C>T" "" "likely pathogenic" "" "0000166357" "1" "50" "11" "6638657" "6638864" "del" "0" "00011" "TPP1_000081" "g.6638657_6638864del" "" "{PMID:Sleat 1999:10330339}" "BtsCI-;FokI-;MmeI-;SfaNI-" "" "" "Germline" "" "" "0" "" "" "g.6617426_6617633del" "" "VUS" "" "0000166358" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}, {PMID:Steinfeld 2002:12376936}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166359" "1" "50" "11" "6638657" "6638864" "del" "0" "00011" "TPP1_000081" "g.6638657_6638864del" "" "{PMID:Sleat 1999:10330339}" "BtsCI-;FokI-;MmeI-;SfaNI-" "" "" "Germline" "" "" "0" "" "" "g.6617426_6617633del" "" "VUS" "" "0000166360" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166361" "1" "50" "11" "6638858" "6638858" "subst" "6.90344E-5" "00011" "TPP1_000038" "g.6638858G>A" "" "{PMID:Sleat 1999:10330339}" "BtsCI-;FokI-;MmeI-" "" "" "Germline" "" "" "0" "" "" "g.6617627G>A" "" "VUS" "" "0000166362" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}, {PMID:Zhong 2000:9788728}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166363" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166364" "2" "50" "11" "6638385" "6638385" "subst" "1.21865E-5" "00011" "TPP1_000023" "g.6638385C>T" "" "{PMID:Sleat 1999:10330339}" "SfcI-;TspRI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>T" "" "VUS" "" "0000166365" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166366" "2" "50" "11" "6638385" "6638385" "subst" "1.21865E-5" "00011" "TPP1_000023" "g.6638385C>T" "" "{PMID:Sleat 1999:10330339}" "SfcI-;TspRI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>T" "" "VUS" "" "0000166367" "1" "50" "11" "6638385" "6638385" "subst" "1.21865E-5" "00011" "TPP1_000023" "g.6638385C>T" "" "{PMID:Sleat 1999:10330339}" "SfcI-;TspRI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>T" "" "VUS" "" "0000166368" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166369" "2" "70" "11" "6636673" "6636673" "subst" "2.03039E-5" "00011" "TPP1_000062" "g.6636673C>G" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6615442C>G" "" "likely pathogenic" "" "0000166370" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166371" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166372" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166373" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166374" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166375" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166376" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}, {PMID:Steinfeld 2002:12376936}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166377" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}, {PMID:Steinfeld 2002:12376936}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166378" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166379" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166380" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166381" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166382" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166383" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166384" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166385" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166386" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}, {PMID:Ju 2002:12414822}, {PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166387" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}, {PMID:Ju 2002:12414822}, {PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166388" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166389" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166390" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166391" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166392" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166393" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166394" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166395" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166396" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166397" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166398" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166399" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166400" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166401" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166402" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166403" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166404" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166405" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166406" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166407" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166408" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166409" "2" "50" "11" "6637752" "6637752" "subst" "0" "00011" "TPP1_000026" "g.6637752T>C" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6616521T>C" "" "VUS" "" "0000166410" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166411" "2" "50" "11" "6637645" "6637652" "del" "0" "00011" "TPP1_000098" "g.6637645_6637652del" "" "{PMID:Sleat 1999:10330339}" "AluI-;CviKI_1-" "" "" "Germline" "" "" "0" "" "" "g.6616414_6616421del" "" "VUS" "" "0000166412" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166413" "2" "70" "11" "6637594" "6637594" "subst" "7.71643E-5" "00011" "TPP1_000068" "g.6637594C>T" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6616363C>T" "" "likely pathogenic" "" "0000166414" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166415" "2" "70" "11" "6637287" "6637287" "subst" "1.62441E-5" "00011" "TPP1_000056" "g.6637287C>T" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6616056C>T" "" "likely pathogenic" "" "0000166416" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166417" "2" "70" "11" "6636673" "6636673" "subst" "2.03039E-5" "00011" "TPP1_000062" "g.6636673C>G" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6615442C>G" "" "likely pathogenic" "" "0000166418" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166419" "2" "70" "11" "6636673" "6636673" "subst" "2.03039E-5" "00011" "TPP1_000062" "g.6636673C>G" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6615442C>G" "" "likely pathogenic" "" "0000166420" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}" "BmrI+;BsrI+;SfcI-" "" "JNCL" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166421" "2" "70" "11" "6636487" "6636487" "subst" "8.12123E-6" "00011" "TPP1_000048" "g.6636487C>T" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6615256C>T" "" "likely pathogenic" "" "0000166422" "0" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166423" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166424" "2" "70" "11" "6636403" "6636403" "subst" "1.6243E-5" "00011" "TPP1_000100" "g.6636403G>A" "" "{PMID:Sleat 1999:10330339}" "NmeAIII-" "" "" "Germline" "" "" "0" "" "" "g.6615172G>A" "" "likely pathogenic" "" "0000166425" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166426" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166427" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166428" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166429" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166430" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166431" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166432" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166433" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166434" "2" "50" "11" "6637544" "6637544" "subst" "0" "00011" "TPP1_000031" "g.6637544A>C" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6616313A>C" "" "VUS" "" "0000166435" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166436" "2" "70" "11" "6636785" "6636785" "subst" "0" "00011" "TPP1_000112" "g.6636785A>T" "" "{PMID:Sleat 1999:10330339}" "HphI-;Tsp45I-" "" "" "Germline" "" "" "0" "" "" "g.6615554A>T" "" "likely pathogenic" "" "0000166437" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166438" "2" "70" "11" "6636673" "6636673" "subst" "2.03039E-5" "00011" "TPP1_000062" "g.6636673C>G" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6615442C>G" "" "likely pathogenic" "" "0000166439" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}, {PMID:Zhong 2000:9788728}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166440" "2" "70" "11" "6636673" "6636673" "subst" "2.03039E-5" "00011" "TPP1_000062" "g.6636673C>G" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6615442C>G" "" "likely pathogenic" "" "0000166441" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166442" "2" "70" "11" "6636673" "6636673" "subst" "2.03039E-5" "00011" "TPP1_000062" "g.6636673C>G" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6615442C>G" "" "likely pathogenic" "" "0000166443" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}" "" "" "JNCL" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166444" "2" "70" "11" "6636487" "6636487" "subst" "8.12123E-6" "00011" "TPP1_000048" "g.6636487C>T" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6615256C>T" "" "likely pathogenic" "" "0000166445" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166446" "2" "50" "11" "6635918" "6635918" "subst" "0" "00011" "TPP1_000008" "g.6635918C>G" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6614687C>G" "" "VUS" "" "0000166447" "0" "70" "11" "6637918" "6637918" "subst" "0" "00011" "TPP1_000082" "g.6637918A>T" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6616687A>T" "" "likely pathogenic" "" "0000166448" "1" "50" "11" "6637645" "6637652" "del" "0" "00011" "TPP1_000098" "g.6637645_6637652del" "" "{PMID:Sleat 1999:10330339}" "AluI-;CviKI_1-" "" "" "Germline" "" "" "0" "" "" "g.6616414_6616421del" "" "VUS" "" "0000166449" "2" "50" "11" "6637645" "6637652" "del" "0" "00011" "TPP1_000098" "g.6637645_6637652del" "" "{PMID:Sleat 1999:10330339}" "AluI-;CviKI_1-" "" "" "Germline" "" "" "0" "" "" "g.6616414_6616421del" "" "VUS" "" "0000166450" "1" "70" "11" "6637594" "6637594" "subst" "7.71643E-5" "00011" "TPP1_000068" "g.6637594C>T" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6616363C>T" "" "likely pathogenic" "" "0000166451" "2" "70" "11" "6637594" "6637594" "subst" "7.71643E-5" "00011" "TPP1_000068" "g.6637594C>T" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6616363C>T" "" "likely pathogenic" "" "0000166452" "1" "70" "11" "6637288" "6637288" "subst" "0" "00011" "TPP1_000055" "g.6637288A>G" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6616057A>G" "" "likely pathogenic" "" "0000166453" "2" "50" "11" "6635874" "6635874" "dup" "0" "00011" "TPP1_000064" "g.6635874dup" "" "{PMID:Sleat 1999:10330339}" "HpyAV+;" "" "" "Germline" "" "" "0" "" "" "g.6614643dup" "" "VUS" "" "0000166454" "1" "70" "11" "6637287" "6637287" "subst" "1.62441E-5" "00011" "TPP1_000056" "g.6637287C>T" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6616056C>T" "" "likely pathogenic" "" "0000166455" "2" "70" "11" "6637287" "6637287" "subst" "1.62441E-5" "00011" "TPP1_000056" "g.6637287C>T" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6616056C>T" "" "likely pathogenic" "" "0000166456" "1" "70" "11" "6637287" "6637287" "subst" "1.62441E-5" "00011" "TPP1_000056" "g.6637287C>T" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6616056C>T" "" "likely pathogenic" "" "0000166457" "2" "70" "11" "6636466" "6636466" "subst" "0" "00011" "TPP1_000037" "g.6636466G>T" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6615235G>T" "" "likely pathogenic" "" "0000166458" "1" "70" "11" "6636673" "6636673" "subst" "2.03039E-5" "00011" "TPP1_000062" "g.6636673C>G" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6615442C>G" "" "likely pathogenic" "" "0000166459" "2" "70" "11" "6636673" "6636673" "subst" "2.03039E-5" "00011" "TPP1_000062" "g.6636673C>G" "" "{PMID:Sleat 1999:10330339}" "" "" "" "Germline" "" "" "0" "" "" "g.6615442C>G" "" "likely pathogenic" "" "0000166460" "1" "50" "11" "6635792" "6635793" "del" "0" "00011" "TPP1_000089" "g.6635792_6635793del" "" "{PMID:Sleat 1999:10330339}" "HinfI-;MlyI-;PleI-" "" "" "Germline" "" "" "0" "" "" "g.6614561_6614562del" "" "VUS" "" "0000166461" "2" "50" "11" "6635792" "6635793" "del" "0" "00011" "TPP1_000089" "g.6635792_6635793del" "" "{PMID:Sleat 1999:10330339}" "HinfI-;MlyI-;PleI-" "" "" "Germline" "" "" "0" "" "" "g.6614561_6614562del" "" "VUS" "" "0000166462" "11" "90" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Hartikainen 1999:10356316}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "pathogenic" "" "0000166463" "21" "90" "11" "6638385" "6638385" "subst" "1.21865E-5" "00011" "TPP1_000023" "g.6638385C>T" "" "{PMID:Hartikainen 1999:10356316}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>T" "" "pathogenic" "" "0000166464" "1" "90" "11" "6638046" "6638959" "" "0" "00011" "TPP1_000000" "g.(6638046_6638959?)" "" "{PMID:Hartikainen 1999:10356316}" "" "" "two intron sequences replaced CLN2 cDNA fragments 278_303 and 709_732, respectively,\r\ngenerating a 1.1 kb instead of a 0.9 kb RT-PCR product" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000166465" "2" "90" "11" "6638385" "6638385" "subst" "1.21865E-5" "00011" "TPP1_000023" "g.6638385C>T" "" "{PMID:Hartikainen 1999:10356316}" "" "" "" "Germline" "" "" "0" "" "" "g.6617154C>T" "" "pathogenic" "" "0000166466" "0" "50" "11" "6638661" "6638661" "subst" "0" "00011" "TPP1_000018" "g.6638661T>C" "" "{PMID:Zhong 2000:11339651}" "" "" "" "Germline" "" "" "0" "" "" "g.6617430T>C" "" "VUS" "" "0000166467" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Zhong 998a:11339651}, {PMID:Zhong 2000:9788728}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166468" "2" "70" "11" "6636410" "6636410" "subst" "4.06085E-6" "00011" "TPP1_000073" "g.6636410C>T" "" "{PMID:Zhong 2000:11339651}" "" "" "" "Germline" "" "" "0" "" "" "g.6615179C>T" "" "likely pathogenic" "" "0000166469" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Zhong 998a:11339651}, {PMID:Zhong 2000:9788728}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166470" "2" "50" "11" "6638661" "6638661" "subst" "0" "00011" "TPP1_000018" "g.6638661T>C" "" "{PMID:Zhong 2000:11339651}" "" "" "Added entry for 2nd allele." "Germline" "" "" "0" "" "" "g.6617430T>C" "" "VUS" "" "0000166471" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Zhong 998a:11339651}, {PMID:Zhong 2000:9788728}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166472" "2" "50" "11" "6636448" "6636448" "subst" "0" "00011" "TPP1_000105" "g.6636448C>T" "" "{PMID:Zhong 2000:11339651}" "BfaI+;BmrI-;BsrI-" "" "" "Germline" "" "" "0" "" "" "g.6615217C>T" "" "VUS" "" "0000166473" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Zhong 998a:11339651}, {PMID:Zhong 2000:9788728}" "BmrI+;BsrI+;SfcI-" "" "not p.Ala555Pro as originally published" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166474" "2" "70" "11" "6635839" "6635839" "subst" "0" "00011" "TPP1_000095" "g.6635839G>A" "" "{PMID:Zhong 2000:11339651}" "" "Ala555Pro" "" "Germline" "" "" "0" "" "" "g.6614608G>A" "" "likely pathogenic" "" "0000166475" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Zhong 998a:11339651}, {PMID:Zhong 2000:9788728}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166476" "2" "70" "11" "6637927" "6637927" "subst" "8.12189E-6" "00011" "TPP1_000071" "g.6637927C>A" "" "{PMID:Zhong 2000:11339651}" "BanI-;NlaIV-" "" "" "Germline" "" "" "0" "" "" "g.6616696C>A" "" "likely pathogenic" "" "0000166477" "1" "50" "11" "6638882" "6638882" "dup" "0" "00011" "TPP1_000084" "g.6638882dup" "" "{PMID:Zhong 2000:11339651}" "" "" "" "Germline" "" "" "0" "" "" "g.6617651dup" "" "VUS" "" "0000166478" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Zhong 998a:11339651}, {PMID:Zhong 2000:9788728}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166479" "1" "10" "11" "6638857" "6638857" "subst" "0" "00011" "TPP1_000039" "g.6638857C>T" "" "{PMID:Zhong 2000:11339651}" "" "" "" "Germline" "" "" "0" "" "" "g.6617626C>T" "" "benign" "" "0000166480" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Zhong 998a:11339651}, {PMID:Zhong 2000:9788728}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166481" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Simonati 2000:11071145}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166482" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Simonati 2000:11071145}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166483" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Berry-Kravis 2000:10665500}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166484" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Berry-Kravis 2000:10665500}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166485" "1" "70" "11" "6638277" "6638277" "subst" "1.21959E-5" "00011" "TPP1_000041" "g.6638277G>A" "" "{PMID:Berry-Kravis 2000:10665500}" "AlwI-" "" "" "Germline" "" "" "0" "" "" "g.6617046G>A" "" "likely pathogenic" "" "0000166486" "2" "70" "11" "6638277" "6638277" "subst" "1.21959E-5" "00011" "TPP1_000041" "g.6638277G>A" "" "{PMID:Berry-Kravis 2000:10665500}" "AlwI-" "" "" "Germline" "" "" "0" "" "" "g.6617046G>A" "" "likely pathogenic" "" "0000166487" "0" "50" "11" "6638938" "6638938" "subst" "0.00226616" "00011" "TPP1_000058" "g.6638938T>C" "" "{PMID:Tessa 2000:10862088}" "HpyCH4V-" "" "" "Germline" "" "" "0" "" "" "g.6617707T>C" "" "VUS" "" "0000166488" "1" "50" "11" "6636123" "6636123" "subst" "1.21835E-5" "00011" "TPP1_000063" "g.6636123G>A" "" "{PMID:Tessa 2000:10862088}" "BfaI+;BstXI-" "" "" "Germline" "" "" "0" "" "" "g.6614892G>A" "" "VUS" "" "0000166489" "2" "50" "11" "6636123" "6636123" "subst" "1.21835E-5" "00011" "TPP1_000063" "g.6636123G>A" "" "{PMID:Tessa 2000:10862088}" "BfaI+;BstXI-" "" "" "Germline" "" "" "0" "" "" "g.6614892G>A" "" "VUS" "" "0000166490" "1" "50" "11" "6640190" "6640190" "subst" "0.000790784" "00011" "TPP1_000013" "g.6640190G>A" "" "{PMID:Tessa et a. 2000:10862088}" "BccI-" "" "" "Germline" "" "" "0" "" "" "g.6618959G>A" "" "VUS" "" "0000166491" "2" "50" "11" "6636123" "6636123" "subst" "1.21835E-5" "00011" "TPP1_000063" "g.6636123G>A" "" "{PMID:Tessa 2000:10862088}" "BfaI+;BstXI-" "" "" "Germline" "" "" "0" "" "" "g.6614892G>A" "" "VUS" "" "0000166492" "1" "50" "11" "6636123" "6636123" "subst" "1.21835E-5" "00011" "TPP1_000063" "g.6636123G>A" "" "{PMID:Tessa 2000:10862088}" "BfaI+;BstXI-" "" "" "Germline" "" "" "0" "" "" "g.6614892G>A" "" "VUS" "" "0000166493" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Moore 2008:18684116}" "BfaI+;BstXI-" "" "Added entry for 2nd allele." "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166494" "1" "50" "11" "6640054" "6640055" "del" "0" "00011" "TPP1_000102" "g.6640054_6640055del" "" "{PMID:Lam 2001:11241479}" "" "" "" "Germline" "" "" "0" "" "" "g.6618823_6618824del" "" "VUS" "" "0000166495" "2" "70" "11" "6636410" "6636410" "subst" "4.06085E-6" "00011" "TPP1_000073" "g.6636410C>T" "" "{PMID:Lam 2001:11241479}" "" "" "" "Germline" "" "" "0" "" "" "g.6615179C>T" "" "likely pathogenic" "" "0000166496" "0" "50" "11" "6638369" "6638369" "subst" "1.62473E-5" "00011" "TPP1_000040" "g.6638369C>T" "" "{PMID:Steinfeld 2002:12376936}" "HpyCH4III-" "" "19/20" "Germline" "" "" "0" "" "" "g.6617138C>T" "" "VUS" "" "0000166497" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}, {PMID:Steinfeld 2002:12376936}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166498" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}, {PMID:Steinfeld 2002:12376936}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166499" "0" "50" "11" "6638369" "6638369" "subst" "1.62473E-5" "00011" "TPP1_000040" "g.6638369C>T" "" "{PMID:Steinfeld 2002:12376936}" "HpyCH4III-" "" "19/20" "Germline" "" "" "0" "" "" "g.6617138C>T" "" "VUS" "" "0000166500" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}, {PMID:Steinfeld 2002:12376936}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166501" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}, {PMID:Steinfeld 2002:12376936}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166502" "0" "50" "11" "6638369" "6638369" "subst" "1.62473E-5" "00011" "TPP1_000040" "g.6638369C>T" "" "{PMID:Steinfeld 2002:12376936}" "HpyCH4III-" "" "19/20" "Germline" "" "" "0" "" "" "g.6617138C>T" "" "VUS" "" "0000166503" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}, {PMID:Steinfeld 2002:12376936}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166504" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}, {PMID:Steinfeld 2002:12376936}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166505" "1" "50" "11" "6638369" "6638369" "subst" "1.62473E-5" "00011" "TPP1_000040" "g.6638369C>T" "" "{PMID:Steinfeld 2002:12376936}" "HpyCH4III-" "" "19/20" "Germline" "" "" "0" "" "" "g.6617138C>T" "" "VUS" "" "0000166506" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}, {PMID:Steinfeld 2002:12376936}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166507" "2" "50" "11" "6638369" "6638369" "subst" "1.62473E-5" "00011" "TPP1_000040" "g.6638369C>T" "" "{PMID:Steinfeld 2002:12376936}" "HpyCH4III-" "" "19/20" "Germline" "" "" "0" "" "" "g.6617138C>T" "" "VUS" "" "0000166508" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}, {PMID:Steinfeld 2002:12376936}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166509" "0" "50" "11" "6638369" "6638369" "subst" "1.62473E-5" "00011" "TPP1_000040" "g.6638369C>T" "" "{PMID:Steinfeld 2002:12376936}" "HpyCH4III-" "" "19/20" "Germline" "" "" "0" "" "" "g.6617138C>T" "" "VUS" "" "0000166510" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}, {PMID:Steinfeld 2002:12376936}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166511" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}, {PMID:Steinfeld 2002:12376936}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166512" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}, {PMID:Steinfeld 2002:12376936}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166513" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}, {PMID:Steinfeld 2002:12376936}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166514" "2" "50" "11" "6638369" "6638369" "subst" "1.62473E-5" "00011" "TPP1_000040" "g.6638369C>T" "" "{PMID:Steinfeld 2002:12376936}" "HpyCH4III-" "" "19/20" "Germline" "" "" "0" "" "" "g.6617138C>T" "" "VUS" "" "0000166515" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}, {PMID:Steinfeld 2002:12376936}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166516" "0" "50" "11" "6638369" "6638369" "subst" "1.62473E-5" "00011" "TPP1_000040" "g.6638369C>T" "" "{PMID:Steinfeld 2002:12376936}" "HpyCH4III-" "" "19/20" "Germline" "" "" "0" "" "" "g.6617138C>T" "" "VUS" "" "0000166517" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}, {PMID:Steinfeld 2002:12376936}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166518" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}, {PMID:Steinfeld 2002:12376936}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166519" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}, {PMID:Steinfeld 2002:12376936}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166520" "0" "50" "11" "6638369" "6638369" "subst" "1.62473E-5" "00011" "TPP1_000040" "g.6638369C>T" "" "{PMID:Steinfeld 2002:12376936}" "HpyCH4III-" "" "19/20" "Germline" "" "" "0" "" "" "g.6617138C>T" "" "VUS" "" "0000166521" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}, {PMID:Steinfeld 2002:12376936}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166522" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}, {PMID:Steinfeld 2002:12376936}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166523" "0" "50" "11" "6638369" "6638369" "subst" "1.62473E-5" "00011" "TPP1_000040" "g.6638369C>T" "" "{PMID:Steinfeld 2002:12376936}" "HpyCH4III-" "" "19/20" "Germline" "" "" "0" "" "" "g.6617138C>T" "" "VUS" "" "0000166524" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}, {PMID:Steinfeld 2002:12376936}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166525" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}, {PMID:Steinfeld 2002:12376936}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166526" "0" "50" "11" "6638369" "6638369" "subst" "1.62473E-5" "00011" "TPP1_000040" "g.6638369C>T" "" "{PMID:Steinfeld 2002:12376936}" "HpyCH4III-" "" "19/20" "Germline" "" "" "0" "" "" "g.6617138C>T" "" "VUS" "" "0000166527" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}, {PMID:Steinfeld 2002:12376936}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166528" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}, {PMID:Steinfeld 2002:12376936}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166529" "0" "50" "11" "6638369" "6638369" "subst" "1.62473E-5" "00011" "TPP1_000040" "g.6638369C>T" "" "{PMID:Steinfeld 2002:12376936}" "HpyCH4III-" "" "19/20" "Germline" "" "" "0" "" "" "g.6617138C>T" "" "VUS" "" "0000166530" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}, {PMID:Steinfeld 2002:12376936}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166531" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}, {PMID:Steinfeld 2002:12376936}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166532" "0" "50" "11" "6638369" "6638369" "subst" "1.62473E-5" "00011" "TPP1_000040" "g.6638369C>T" "" "{PMID:Steinfeld 2002:12376936}" "HpyCH4III-" "" "19/20" "Germline" "" "" "0" "" "" "g.6617138C>T" "" "VUS" "" "0000166533" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}, {PMID:Steinfeld 2002:12376936}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166534" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}, {PMID:Steinfeld 2002:12376936}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166535" "0" "50" "11" "6638369" "6638369" "subst" "1.62473E-5" "00011" "TPP1_000040" "g.6638369C>T" "" "{PMID:Steinfeld 2002:12376936}" "HpyCH4III-" "" "19/20" "Germline" "" "" "0" "" "" "g.6617138C>T" "" "VUS" "" "0000166536" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}, {PMID:Steinfeld 2002:12376936}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166537" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}, {PMID:Steinfeld 2002:12376936}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166538" "0" "50" "11" "6638369" "6638369" "subst" "1.62473E-5" "00011" "TPP1_000040" "g.6638369C>T" "" "{PMID:Steinfeld 2002:12376936}" "HpyCH4III-" "" "19/20" "Germline" "" "" "0" "" "" "g.6617138C>T" "" "VUS" "" "0000166539" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}, {PMID:Steinfeld 2002:12376936}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166540" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}, {PMID:Steinfeld 2002:12376936}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166541" "0" "50" "11" "6638369" "6638369" "subst" "1.62473E-5" "00011" "TPP1_000040" "g.6638369C>T" "" "{PMID:Steinfeld 2002:12376936}" "HpyCH4III-" "" "19/20" "Germline" "" "" "0" "" "" "g.6617138C>T" "" "VUS" "" "0000166542" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}, {PMID:Steinfeld 2002:12376936}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166543" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}, {PMID:Steinfeld 2002:12376936}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166544" "0" "50" "11" "6638369" "6638369" "subst" "1.62473E-5" "00011" "TPP1_000040" "g.6638369C>T" "" "{PMID:Steinfeld 2002:12376936}" "HpyCH4III-" "" "19/20" "Germline" "" "" "0" "" "" "g.6617138C>T" "" "VUS" "" "0000166545" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}, {PMID:Steinfeld 2002:12376936}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166546" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}, {PMID:Steinfeld 2002:12376936}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166547" "0" "50" "11" "6638369" "6638369" "subst" "1.62473E-5" "00011" "TPP1_000040" "g.6638369C>T" "" "{PMID:Steinfeld 2002:12376936}" "HpyCH4III-" "" "19/20" "Germline" "" "" "0" "" "" "g.6617138C>T" "" "VUS" "" "0000166548" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}, {PMID:Steinfeld 2002:12376936}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166549" "2" "70" "11" "6637564" "6637564" "subst" "0" "00011" "TPP1_000104" "g.6637564T>G" "" "{PMID:Steinfeld 2002:12376936}" "HphI-" "" "" "Germline" "" "" "0" "" "" "g.6616333T>G" "" "likely pathogenic" "" "0000166550" "0" "50" "11" "6638369" "6638369" "subst" "1.62473E-5" "00011" "TPP1_000040" "g.6638369C>T" "" "{PMID:Steinfeld 2002:12376936}" "HpyCH4III-" "" "19/20" "Germline" "" "" "0" "" "" "g.6617138C>T" "" "VUS" "" "0000166551" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}, {PMID:Steinfeld 2002:12376936}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166552" "2" "70" "11" "6637564" "6637564" "subst" "0" "00011" "TPP1_000104" "g.6637564T>G" "" "{PMID:Steinfeld 2002:12376936}" "HphI-" "" "" "Germline" "" "" "0" "" "" "g.6616333T>G" "" "likely pathogenic" "" "0000166553" "0" "50" "11" "6638369" "6638369" "subst" "1.62473E-5" "00011" "TPP1_000040" "g.6638369C>T" "" "{PMID:Steinfeld 2002:12376936}" "HpyCH4III-" "" "19/20" "Germline" "" "" "0" "" "" "g.6617138C>T" "" "VUS" "" "0000166554" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}, {PMID:Steinfeld 2002:12376936}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166555" "2" "70" "11" "6636673" "6636673" "subst" "2.03039E-5" "00011" "TPP1_000062" "g.6636673C>G" "" "{PMID:Steinfeld 2002:12376936}" "" "" "" "Germline" "" "" "0" "" "" "g.6615442C>G" "" "likely pathogenic" "" "0000166556" "1" "90" "11" "6637921" "6637921" "subst" "4.06098E-6" "00011" "TPP1_000049" "g.6637921T>C" "" "{PMID:Steinfeld 2002:12376936}" "Cac8I+;SfaNI+;" "" "" "Germline" "" "" "0" "" "" "g.6616690T>C" "" "pathogenic" "" "0000166557" "2" "90" "11" "6637921" "6637921" "subst" "4.06098E-6" "00011" "TPP1_000049" "g.6637921T>C" "" "{PMID:Steinfeld 2002:12376936}" "Cac8I+;SfaNI+;" "" "" "Germline" "" "" "0" "" "" "g.6616690T>C" "" "pathogenic" "" "0000166558" "0" "50" "11" "6638369" "6638369" "subst" "1.62473E-5" "00011" "TPP1_000040" "g.6638369C>T" "" "{PMID:Steinfeld 2002:12376936}" "HpyCH4III-" "" "19/20" "Germline" "" "" "0" "" "" "g.6617138C>T" "" "VUS" "" "0000166559" "1" "90" "11" "6637921" "6637921" "subst" "4.06098E-6" "00011" "TPP1_000049" "g.6637921T>C" "" "{PMID:Steinfeld 2002:12376936}" "Cac8I+;SfaNI+;" "" "" "Germline" "" "" "0" "" "" "g.6616690T>C" "" "pathogenic" "" "0000166560" "2" "90" "11" "6637921" "6637921" "subst" "4.06098E-6" "00011" "TPP1_000049" "g.6637921T>C" "" "{PMID:Steinfeld 2002:12376936}" "Cac8I+;SfaNI+;" "" "" "Germline" "" "" "0" "" "" "g.6616690T>C" "" "pathogenic" "" "0000166561" "0" "50" "11" "6638369" "6638369" "subst" "1.62473E-5" "00011" "TPP1_000040" "g.6638369C>T" "" "{PMID:Steinfeld 2002:12376936}" "HpyCH4III-" "" "19/20" "Germline" "" "" "0" "" "" "g.6617138C>T" "" "VUS" "" "0000166562" "1" "10" "11" "6638857" "6638857" "subst" "0" "00011" "TPP1_000039" "g.6638857C>T" "" "{PMID:Steinfeld 2002:12376936}" "" "" "" "Germline" "" "" "0" "" "" "g.6617626C>T" "" "benign" "" "0000166563" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}, {PMID:Steinfeld 2002:12376936}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166564" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}, {PMID:Ju 2002:12414822}, {PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166565" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}, {PMID:Ju 2002:12414822}, {PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166566" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}, {PMID:Ju 2002:12414822}, {PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166567" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}, {PMID:Ju 2002:12414822}, {PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166568" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}, {PMID:Ju 2002:12414822}, {PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166569" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}, {PMID:Ju 2002:12414822}, {PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166570" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}, {PMID:Ju 2002:12414822}, {PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166571" "2" "70" "11" "6637927" "6637927" "subst" "8.12189E-6" "00011" "TPP1_000071" "g.6637927C>A" "" "{PMID:Kousi 2012:12414822}, {PMID:Ju 2002:21990111}" "BanI-;NlaIV-" "" "" "Germline" "" "" "0" "" "" "g.6616696C>A" "" "likely pathogenic" "" "0000166572" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}, {PMID:Ju 2002:12414822}, {PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166573" "2" "10" "11" "6636543" "6636543" "subst" "0" "00011" "TPP1_000090" "g.6636543C>A" "" "{PMID:Ju 2002:12414822}" "ApoI+;Tsp509I+;" "" "" "Germline" "" "" "0" "" "" "g.6615312C>A" "" "benign" "" "0000166574" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}, {PMID:Ju 2002:12414822}, {PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166575" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}, {PMID:Ju 2002:12414822}, {PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166576" "0" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}, {PMID:Ju 2002:12414822}, {PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166577" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}, {PMID:Ju 2002:12414822}, {PMID:Kousi 2012:21990111}" "" "" "Founder effect" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166578" "2" "70" "11" "6637927" "6637927" "subst" "8.12189E-6" "00011" "TPP1_000071" "g.6637927C>A" "" "{PMID:Kousi 2012:12414822}, {PMID:Ju 2002:21990111}" "BanI-;NlaIV-" "" "Founder effect" "Germline" "" "" "0" "" "" "g.6616696C>A" "" "likely pathogenic" "" "0000166579" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sleat 1999:10330339}, {PMID:Ju 2002:12414822}, {PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166580" "2" "70" "11" "6637927" "6637927" "subst" "8.12189E-6" "00011" "TPP1_000071" "g.6637927C>A" "" "{PMID:Kousi 2012:12414822}, {PMID:Ju 2002:21990111}" "BanI-;NlaIV-" "" "" "Germline" "" "" "0" "" "" "g.6616696C>A" "" "likely pathogenic" "" "0000166581" "1" "70" "11" "6637927" "6637927" "subst" "8.12189E-6" "00011" "TPP1_000071" "g.6637927C>A" "" "{PMID:Kousi 2012:12414822}, {PMID:Ju 2002:21990111}" "BanI-;NlaIV-" "" "" "Germline" "" "" "0" "" "" "g.6616696C>A" "" "likely pathogenic" "" "0000166582" "2" "70" "11" "6637927" "6637927" "subst" "8.12189E-6" "00011" "TPP1_000071" "g.6637927C>A" "" "{PMID:Kousi 2012:12414822}, {PMID:Ju 2002:21990111}" "BanI-;NlaIV-" "" "" "Germline" "" "" "0" "" "" "g.6616696C>A" "" "likely pathogenic" "" "0000166583" "1" "70" "11" "6637927" "6637927" "subst" "8.12189E-6" "00011" "TPP1_000071" "g.6637927C>A" "" "{PMID:Kousi 2012:12414822}, {PMID:Ju 2002:21990111}" "BanI-;NlaIV-" "" "" "Germline" "" "" "0" "" "" "g.6616696C>A" "" "likely pathogenic" "" "0000166584" "2" "70" "11" "6637927" "6637927" "subst" "8.12189E-6" "00011" "TPP1_000071" "g.6637927C>A" "" "{PMID:Kousi 2012:12414822}, {PMID:Ju 2002:21990111}" "BanI-;NlaIV-" "" "" "Germline" "" "" "0" "" "" "g.6616696C>A" "" "likely pathogenic" "" "0000166585" "0" "70" "11" "6637927" "6637927" "subst" "8.12189E-6" "00011" "TPP1_000071" "g.6637927C>A" "" "{PMID:Kousi 2012:12414822}, {PMID:Ju 2002:21990111}" "BanI-;NlaIV-" "" "" "Germline" "" "" "0" "" "" "g.6616696C>A" "" "likely pathogenic" "" "0000166586" "1" "70" "11" "6637927" "6637927" "subst" "8.12189E-6" "00011" "TPP1_000071" "g.6637927C>A" "" "{PMID:Kousi 2012:12414822}, {PMID:Ju 2002:21990111}" "BanI-;NlaIV-" "" "" "Germline" "" "" "0" "" "" "g.6616696C>A" "" "likely pathogenic" "" "0000166587" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Hartikainen 1999:10356316}" "BanI-;NlaIV-" "" "Added entry for 2nd allele." "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166588" "1" "70" "11" "6637927" "6637927" "subst" "8.12189E-6" "00011" "TPP1_000071" "g.6637927C>A" "" "{PMID:Kousi 2012:12414822}, {PMID:Ju 2002:21990111}" "BanI-;NlaIV-" "" "" "Germline" "" "" "0" "" "" "g.6616696C>A" "" "likely pathogenic" "" "0000166589" "2" "70" "11" "6636206" "6636206" "subst" "0" "00011" "TPP1_000092" "g.6636206A>C" "" "{PMID:Ju 2002:12414822}" "" "" "" "Germline" "" "" "0" "" "" "g.6614975A>C" "" "likely pathogenic" "" "0000166590" "1" "70" "11" "6637927" "6637927" "subst" "8.12189E-6" "00011" "TPP1_000071" "g.6637927C>A" "" "{PMID:Kousi 2012:12414822}, {PMID:Ju 2002:21990111}" "BanI-;NlaIV-" "" "" "Germline" "" "" "0" "" "" "g.6616696C>A" "" "likely pathogenic" "" "0000166591" "2" "90" "11" "6637892" "6638090" "del" "0" "00011" "TPP1_000000" "g.(6637892_6638090del1)" "" "{PMID:Ju 2002:12414822}" "" "1 bp del exon 7" "Variant Error [ESYNTAX]: This genomic variant has an error (char 30: expected one of \')\', or a digit). Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.6616661_6616859del1" "" "pathogenic" "" "0000166592" "0" "70" "11" "6637927" "6637927" "subst" "8.12189E-6" "00011" "TPP1_000071" "g.6637927C>A" "" "{PMID:Kousi 2012:12414822}, {PMID:Ju 2002:21990111}" "BanI-;NlaIV-" "" "" "Germline" "" "" "0" "" "" "g.6616696C>A" "" "likely pathogenic" "" "0000166593" "0" "70" "11" "6637927" "6637927" "subst" "8.12189E-6" "00011" "TPP1_000071" "g.6637927C>A" "" "{PMID:Kousi 2012:12414822}, {PMID:Ju 2002:21990111}" "BanI-;NlaIV-" "" "" "Germline" "" "" "0" "" "" "g.6616696C>A" "" "likely pathogenic" "" "0000166594" "0" "70" "11" "6637949" "6637949" "subst" "4.06078E-6" "00011" "TPP1_000111" "g.6637949C>T" "" "{PMID:Ju 2002:12414822}" "BsgI-" "" "" "Germline" "" "" "0" "" "" "g.6616718C>T" "" "likely pathogenic" "" "0000166595" "0" "70" "11" "6637945" "6637945" "subst" "4.06085E-6" "00011" "TPP1_000061" "g.6637945T>G" "" "{PMID:Ju 2002:12414822}" "" "" "" "Germline" "" "" "0" "" "" "g.6616714T>G" "" "likely pathogenic" "" "0000166596" "0" "50" "11" "6635918" "6635918" "subst" "0" "00011" "TPP1_000008" "g.6635918C>G" "" "{PMID:Ju 2002:12414822}" "" "" "" "Germline" "" "" "0" "" "" "g.6614687C>G" "" "VUS" "" "0000166597" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Lavrov 2002:12363103}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166598" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Lavrov 2002:12363103}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166599" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Lavrov 2002:12363103}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166600" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Lavrov 2002:12363103}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166601" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Lavrov 2002:12363103}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166602" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Lavrov 2002:12363103}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166603" "0" "50" "11" "6638926" "6638926" "subst" "4.06088E-6" "00011" "TPP1_000083" "g.6638926A>T" "" "{PMID:Kohan 2008:20960655}, {PMID:Kohan 2009:19793312}" "BfaI+;" "" "" "Germline" "" "" "0" "" "" "g.6617695A>T" "" "VUS" "" "0000166604" "0" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Teixeira 2003:12796825}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166605" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Teixeira 2003:12796825}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166606" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Teixeira 2003:12796825}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166607" "1" "50" "11" "6636123" "6636123" "subst" "1.21835E-5" "00011" "TPP1_000063" "g.6636123G>A" "" "{PMID:Koul 2007:17690061}" "BfaI+;BstXI-" "" "" "Germline" "" "" "0" "" "" "g.6614892G>A" "" "VUS" "" "0000166608" "2" "50" "11" "6636123" "6636123" "subst" "1.21835E-5" "00011" "TPP1_000063" "g.6636123G>A" "" "{PMID:Koul 2007:17690061}" "BfaI+;BstXI-" "" "" "Germline" "" "" "0" "" "" "g.6614892G>A" "" "VUS" "" "0000166609" "1" "50" "11" "6636123" "6636123" "subst" "1.21835E-5" "00011" "TPP1_000063" "g.6636123G>A" "" "{PMID:Koul 2007:17690061}" "BfaI+;BstXI-" "" "" "Germline" "" "" "0" "" "" "g.6614892G>A" "" "VUS" "" "0000166610" "2" "50" "11" "6636123" "6636123" "subst" "1.21835E-5" "00011" "TPP1_000063" "g.6636123G>A" "" "{PMID:Koul 2007:17690061}" "BfaI+;BstXI-" "" "" "Germline" "" "" "0" "" "" "g.6614892G>A" "" "VUS" "" "0000166611" "1" "50" "11" "6636123" "6636123" "subst" "1.21835E-5" "00011" "TPP1_000063" "g.6636123G>A" "" "{PMID:Koul 2007:17690061}" "BfaI+;BstXI-" "" "" "Germline" "" "" "0" "" "" "g.6614892G>A" "" "VUS" "" "0000166612" "2" "50" "11" "6636123" "6636123" "subst" "1.21835E-5" "00011" "TPP1_000063" "g.6636123G>A" "" "{PMID:Koul 2007:17690061}" "BfaI+;BstXI-" "" "" "Germline" "" "" "0" "" "" "g.6614892G>A" "" "VUS" "" "0000166613" "1" "50" "11" "6636123" "6636123" "subst" "1.21835E-5" "00011" "TPP1_000063" "g.6636123G>A" "" "{PMID:Koul 2007:17690061}" "BfaI+;BstXI-" "" "" "Germline" "" "" "0" "" "" "g.6614892G>A" "" "VUS" "" "0000166614" "2" "50" "11" "6636123" "6636123" "subst" "1.21835E-5" "00011" "TPP1_000063" "g.6636123G>A" "" "{PMID:Koul 2007:17690061}" "BfaI+;BstXI-" "" "" "Germline" "" "" "0" "" "" "g.6614892G>A" "" "VUS" "" "0000166615" "1" "50" "11" "6636123" "6636123" "subst" "1.21835E-5" "00011" "TPP1_000063" "g.6636123G>A" "" "{PMID:Koul 2007:17690061}" "BfaI+;BstXI-" "" "" "Germline" "" "" "0" "" "" "g.6614892G>A" "" "VUS" "" "0000166616" "2" "50" "11" "6636123" "6636123" "subst" "1.21835E-5" "00011" "TPP1_000063" "g.6636123G>A" "" "{PMID:Koul 2007:17690061}" "BfaI+;BstXI-" "" "" "Germline" "" "" "0" "" "" "g.6614892G>A" "" "VUS" "" "0000166617" "1" "50" "11" "6636403" "6636403" "del" "0" "00011" "TPP1_000101" "g.6636403del" "" "{PMID:Moore 2008:18684116}" "" "" "" "Germline" "" "" "0" "" "" "g.6615172del" "" "VUS" "" "0000166618" "2" "50" "11" "6636403" "6636403" "del" "0" "00011" "TPP1_000101" "g.6636403del" "" "{PMID:Moore 2008:18684116}" "" "" "" "Germline" "" "" "0" "" "" "g.6615172del" "" "VUS" "" "0000166619" "1" "50" "11" "6636403" "6636403" "del" "0" "00011" "TPP1_000101" "g.6636403del" "" "{PMID:Moore 2008:18684116}" "" "" "" "Germline" "" "" "0" "" "" "g.6615172del" "" "VUS" "" "0000166620" "2" "50" "11" "6636403" "6636403" "del" "0" "00011" "TPP1_000101" "g.6636403del" "" "{PMID:Moore 2008:18684116}" "" "" "" "Germline" "" "" "0" "" "" "g.6615172del" "" "VUS" "" "0000166621" "1" "50" "11" "6636403" "6636403" "del" "0" "00011" "TPP1_000101" "g.6636403del" "" "{PMID:Moore 2008:18684116}" "" "" "" "Germline" "" "" "0" "" "" "g.6615172del" "" "VUS" "" "0000166622" "2" "50" "11" "6636403" "6636403" "del" "0" "00011" "TPP1_000101" "g.6636403del" "" "{PMID:Moore 2008:18684116}" "" "" "" "Germline" "" "" "0" "" "" "g.6615172del" "" "VUS" "" "0000166623" "1" "70" "11" "6637927" "6637927" "subst" "8.12189E-6" "00011" "TPP1_000071" "g.6637927C>A" "" "{PMID:Moore 2008:18684116}" "BanI-;NlaIV-" "" "" "Germline" "" "" "0" "" "" "g.6616696C>A" "" "likely pathogenic" "" "0000166624" "2" "70" "11" "6637927" "6637927" "subst" "8.12189E-6" "00011" "TPP1_000071" "g.6637927C>A" "" "{PMID:Moore 2008:18684116}" "BanI-;NlaIV-" "" "" "Germline" "" "" "0" "" "" "g.6616696C>A" "" "likely pathogenic" "" "0000166625" "1" "70" "11" "6637927" "6637927" "subst" "8.12189E-6" "00011" "TPP1_000071" "g.6637927C>A" "" "{PMID:Moore 2008:18684116}" "BanI-;NlaIV-" "" "" "Germline" "" "" "0" "" "" "g.6616696C>A" "" "likely pathogenic" "" "0000166626" "2" "70" "11" "6637927" "6637927" "subst" "8.12189E-6" "00011" "TPP1_000071" "g.6637927C>A" "" "{PMID:Moore 2008:18684116}" "BanI-;NlaIV-" "" "" "Germline" "" "" "0" "" "" "g.6616696C>A" "" "likely pathogenic" "" "0000166627" "1" "70" "11" "6637927" "6637927" "subst" "8.12189E-6" "00011" "TPP1_000071" "g.6637927C>A" "" "{PMID:Moore 2008:18684116}" "BanI-;NlaIV-" "" "" "Germline" "" "" "0" "" "" "g.6616696C>A" "" "likely pathogenic" "" "0000166628" "2" "70" "11" "6637927" "6637927" "subst" "8.12189E-6" "00011" "TPP1_000071" "g.6637927C>A" "" "{PMID:Moore 2008:18684116}" "BanI-;NlaIV-" "" "" "Germline" "" "" "0" "" "" "g.6616696C>A" "" "likely pathogenic" "" "0000166629" "1" "70" "11" "6637927" "6637927" "subst" "8.12189E-6" "00011" "TPP1_000071" "g.6637927C>A" "" "{PMID:Moore 2008:18684116}" "BanI-;NlaIV-" "" "" "Germline" "" "" "0" "" "" "g.6616696C>A" "" "likely pathogenic" "" "0000166630" "2" "70" "11" "6637927" "6637927" "subst" "8.12189E-6" "00011" "TPP1_000071" "g.6637927C>A" "" "{PMID:Moore 2008:18684116}" "BanI-;NlaIV-" "" "" "Germline" "" "" "0" "" "" "g.6616696C>A" "" "likely pathogenic" "" "0000166631" "1" "70" "11" "6637927" "6637927" "subst" "8.12189E-6" "00011" "TPP1_000071" "g.6637927C>A" "" "{PMID:Moore 2008:18684116}" "BanI-;NlaIV-" "" "" "Germline" "" "" "0" "" "" "g.6616696C>A" "" "likely pathogenic" "" "0000166632" "2" "70" "11" "6637927" "6637927" "subst" "8.12189E-6" "00011" "TPP1_000071" "g.6637927C>A" "" "{PMID:Moore 2008:18684116}" "BanI-;NlaIV-" "" "" "Germline" "" "" "0" "" "" "g.6616696C>A" "" "likely pathogenic" "" "0000166633" "1" "70" "11" "6637927" "6637927" "subst" "8.12189E-6" "00011" "TPP1_000071" "g.6637927C>A" "" "{PMID:Moore 2008:18684116}" "BanI-;NlaIV-" "" "" "Germline" "" "" "0" "" "" "g.6616696C>A" "" "likely pathogenic" "" "0000166634" "2" "70" "11" "6637927" "6637927" "subst" "8.12189E-6" "00011" "TPP1_000071" "g.6637927C>A" "" "{PMID:Moore 2008:18684116}" "BanI-;NlaIV-" "" "" "Germline" "" "" "0" "" "" "g.6616696C>A" "" "likely pathogenic" "" "0000166635" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Moore 2008:18684116}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166636" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Moore 2008:18684116}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166637" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Moore 2008:18684116}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166638" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Moore 2008:18684116}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166639" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Moore 2008:18684116}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166640" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Moore 2008:18684116}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166641" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Moore 2008:18684116}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166642" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Moore 2008:18684116}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166643" "1" "50" "11" "6638926" "6638926" "subst" "4.06088E-6" "00011" "TPP1_000083" "g.6638926A>T" "" "{PMID:Moore 2008:18684116}" "BfaI+;" "" "" "Germline" "" "" "0" "" "" "g.6617695A>T" "" "VUS" "" "0000166644" "2" "70" "11" "6637927" "6637927" "subst" "8.12189E-6" "00011" "TPP1_000071" "g.6637927C>A" "" "{PMID:Moore 2008:18684116}" "BfaI+;" "" "Added entry for 2nd allele." "Germline" "" "" "0" "" "" "g.6616696C>A" "" "likely pathogenic" "" "0000166645" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Moore 2008:18684116}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166646" "2" "70" "11" "6637927" "6637927" "subst" "8.12189E-6" "00011" "TPP1_000071" "g.6637927C>A" "" "{PMID:Moore 2008:18684116}" "BanI-;NlaIV-" "" "" "Germline" "" "" "0" "" "" "g.6616696C>A" "" "likely pathogenic" "" "0000166647" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Moore 2008:18684116}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166648" "2" "70" "11" "6637927" "6637927" "subst" "8.12189E-6" "00011" "TPP1_000071" "g.6637927C>A" "" "{PMID:Moore 2008:18684116}" "BanI-;NlaIV-" "" "" "Germline" "" "" "0" "" "" "g.6616696C>A" "" "likely pathogenic" "" "0000166649" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Moore 2008:18684116}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166650" "2" "70" "11" "6637927" "6637927" "subst" "8.12189E-6" "00011" "TPP1_000071" "g.6637927C>A" "" "{PMID:Moore 2008:18684116}" "BanI-;NlaIV-" "" "" "Germline" "" "" "0" "" "" "g.6616696C>A" "" "likely pathogenic" "" "0000166651" "1" "70" "11" "6637927" "6637927" "subst" "8.12189E-6" "00011" "TPP1_000071" "g.6637927C>A" "" "{PMID:Moore 2008:18684116}" "BanI-;NlaIV-" "" "" "Germline" "" "" "0" "" "" "g.6616696C>A" "" "likely pathogenic" "" "0000166652" "2" "70" "11" "6637927" "6637927" "subst" "8.12189E-6" "00011" "TPP1_000071" "g.6637927C>A" "" "{PMID:Moore 2008:18684116}" "BanI-;NlaIV-" "" "Added entry for 2nd allele." "Germline" "" "" "0" "" "" "g.6616696C>A" "" "likely pathogenic" "" "0000166653" "1" "70" "11" "6637927" "6637927" "subst" "8.12189E-6" "00011" "TPP1_000071" "g.6637927C>A" "" "{PMID:Moore 2008:18684116}" "BanI-;NlaIV-" "" "" "Germline" "" "" "0" "" "" "g.6616696C>A" "" "likely pathogenic" "" "0000166654" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Hartikainen 1999:10356316}" "BanI-;NlaIV-" "" "Added entry for 2nd allele." "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166655" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Moore 2008:18684116}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166656" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Hartikainen 1999:10356316}" "" "" "Added entry for 2nd allele." "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166657" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Moore 2008:18684116}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166658" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Hartikainen 1999:10356316}" "" "" "Added entry for 2nd allele." "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166659" "0" "70" "11" "6637927" "6637927" "subst" "8.12189E-6" "00011" "TPP1_000071" "g.6637927C>A" "" "{PMID:Moore 2008:18684116}" "BanI-;NlaIV-" "" "" "Germline" "" "" "0" "" "" "g.6616696C>A" "" "likely pathogenic" "" "0000166660" "0" "70" "11" "6637927" "6637927" "subst" "8.12189E-6" "00011" "TPP1_000071" "g.6637927C>A" "" "{PMID:Moore 2008:18684116}" "BanI-;NlaIV-" "" "" "Germline" "" "" "0" "" "" "g.6616696C>A" "" "likely pathogenic" "" "0000166661" "1" "50" "11" "6637744" "6637744" "subst" "0" "00011" "TPP1_000029" "g.6637744T>C" "" "{PMID:Bessa 2008:17959406}" "" "" "" "Germline" "" "" "0" "" "" "g.6616513T>C" "" "VUS" "" "0000166662" "2" "50" "11" "6637744" "6637744" "subst" "0" "00011" "TPP1_000029" "g.6637744T>C" "" "{PMID:Bessa 2008:17959406}" "" "" "" "Germline" "" "" "0" "" "" "g.6616513T>C" "" "VUS" "" "0000166663" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Elleder 2008:18283468}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166664" "2" "70" "11" "6636209" "6636209" "subst" "4.06068E-6" "00011" "TPP1_000114" "g.6636209A>C" "" "{PMID:Elleder 2008:18283468} " "" "" "" "Germline" "" "" "0" "" "" "g.6614978A>C" "" "likely pathogenic" "" "0000166665" "1" "50" "11" "6640614" "6640614" "subst" "0" "00011" "TPP1_000011" "g.6640614C>G" "" "{PMID:Kousi 2009:19201763}" "" "" "" "Germline" "" "" "0" "" "" "g.6619383C>G" "" "VUS" "" "0000166666" "2" "50" "11" "6640614" "6640614" "subst" "0" "00011" "TPP1_000011" "g.6640614C>G" "" "{PMID:Kousi 2009:19201763}" "" "" "" "Germline" "" "" "0" "" "" "g.6619383C>G" "" "VUS" "" "0000166667" "1" "50" "11" "6636735" "6636735" "subst" "0" "00011" "TPP1_000069" "g.6636735C>A" "" "{PMID:Kousi 2009:19201763}" "MseI+;" "" "" "Germline" "" "" "0" "" "" "g.6615504C>A" "" "VUS" "" "0000166668" "2" "50" "11" "6636735" "6636735" "subst" "0" "00011" "TPP1_000069" "g.6636735C>A" "" "{PMID:Kousi 2009:19201763}" "MseI+;" "" "" "Germline" "" "" "0" "" "" "g.6615504C>A" "" "VUS" "" "0000166687" "1" "50" "11" "6638005" "6638005" "del" "0" "00011" "TPP1_000044" "g.6638005del" "" "{PMID:Goldberg-Stern 2009:19748052}" "BceAI+;" "" "" "Germline" "" "" "0" "" "" "g.6616774del" "" "VUS" "" "0000166688" "2" "50" "11" "6638005" "6638005" "del" "0" "00011" "TPP1_000044" "g.6638005del" "" "{PMID:Goldberg-Stern 2009:19748052}" "BceAI+;" "" "" "Germline" "" "" "0" "" "" "g.6616774del" "" "VUS" "" "0000166689" "1" "50" "11" "6638005" "6638005" "del" "0" "00011" "TPP1_000044" "g.6638005del" "" "{PMID:Goldberg-Stern 2009:19748052}" "BceAI+;" "" "" "Germline" "" "" "0" "" "" "g.6616774del" "" "VUS" "" "0000166690" "2" "50" "11" "6638005" "6638005" "del" "0" "00011" "TPP1_000044" "g.6638005del" "" "{PMID:Goldberg-Stern 2009:19748052}" "BceAI+;" "" "" "Germline" "" "" "0" "" "" "g.6616774del" "" "VUS" "" "0000166691" "1" "70" "11" "6638247" "6638247" "subst" "0" "00011" "TPP1_000110" "g.6638247C>T" "" "{PMID:Wang 2011:20820830}" "" "" "" "Germline" "" "" "0" "" "" "g.6617016C>T" "" "likely pathogenic" "" "0000166692" "2" "50" "11" "6636096" "6636096" "subst" "4.06144E-6" "00011" "TPP1_000009" "g.6636096C>T" "" "{PMID:Wang 2011:20820830}" "" "" "" "Germline" "" "" "0" "" "" "g.6614865C>T" "" "VUS" "" "0000166693" "1" "50" "11" "6640614" "6640614" "subst" "0" "00011" "TPP1_000011" "g.6640614C>G" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6619383C>G" "" "VUS" "" "0000166694" "2" "50" "11" "6640614" "6640614" "subst" "0" "00011" "TPP1_000011" "g.6640614C>G" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6619383C>G" "" "VUS" "" "0000166695" "1" "10" "11" "6637981" "6637981" "subst" "1.21862E-5" "00011" "TPP1_000045" "g.6637981C>T" "" "{PMID:Kousi 2012:21990111}" "BstNI+;PspGI+;NlaIV-" "" "" "Germline" "" "" "0" "" "" "g.6616750C>T" "" "benign" "" "0000166696" "2" "70" "11" "6637605" "6637605" "subst" "4.06118E-6" "00011" "TPP1_000046" "g.6637605C>T" "" "{PMID:Kousi 2012:21990111}" "" "" "formerly named cln2.74 snce on same allele" "Germline" "" "" "0" "" "" "g.6616374C>T" "" "likely pathogenic" "" "0000166697" "1" "50" "11" "6637744" "6637744" "subst" "0" "00011" "TPP1_000029" "g.6637744T>C" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6616513T>C" "" "VUS" "" "0000166698" "2" "70" "11" "6636793" "6636793" "subst" "0" "00011" "TPP1_000099" "g.6636793G>C" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6615562G>C" "" "likely pathogenic" "" "0000166699" "1" "50" "11" "6636091" "6636092" "delins" "0" "00011" "TPP1_000010" "g.6636091_6636092delinsTA" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6614860_6614861delinsTA" "" "VUS" "" "0000166700" "2" "50" "11" "6636091" "6636092" "delins" "0" "00011" "TPP1_000010" "g.6636091_6636092delinsTA" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6614860_6614861delinsTA" "" "VUS" "" "0000166701" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166702" "2" "50" "11" "6636091" "6636092" "delins" "0" "00011" "TPP1_000010" "g.6636091_6636092delinsTA" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6614860_6614861delinsTA" "" "VUS" "" "0000166703" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166704" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166705" "1" "50" "11" "6639000" "6639000" "subst" "0" "00011" "TPP1_000109" "g.6639000G>C" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617769G>C" "" "VUS" "" "0000166706" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166707" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166708" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166709" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166710" "2" "70" "11" "6636403" "6636403" "subst" "1.6243E-5" "00011" "TPP1_000100" "g.6636403G>A" "" "{PMID:Kousi 2012:21990111}" "NmeAIII-" "" "" "Germline" "" "" "0" "" "" "g.6615172G>A" "" "likely pathogenic" "" "0000166711" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166712" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166713" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166714" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166715" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166716" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166717" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166718" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166719" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166720" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166721" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166722" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166723" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166724" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166725" "1" "70" "11" "6635827" "6635827" "subst" "0" "00011" "TPP1_000107" "g.6635827A>G" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6614596A>G" "" "likely pathogenic" "" "0000166726" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Moore 2008:18684116}" "" "" "Added entry for 2nd allele." "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166727" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166728" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166729" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166730" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166731" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166732" "2" "70" "11" "6636403" "6636403" "subst" "1.6243E-5" "00011" "TPP1_000100" "g.6636403G>A" "" "{PMID:Kousi 2012:21990111}" "NmeAIII-" "" "" "Germline" "" "" "0" "" "" "g.6615172G>A" "" "likely pathogenic" "" "0000166733" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166734" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166735" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166736" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166737" "1" "70" "11" "6640007" "6640007" "subst" "0" "00011" "TPP1_000078" "g.6640007C>T" "" "{PMID:Kousi 2012:21990111}" "BslI-" "" "" "Germline" "" "" "0" "" "" "g.6618776C>T" "" "likely pathogenic" "" "0000166738" "2" "50" "11" "6638253" "6638253" "subst" "4.06445E-6" "00011" "TPP1_000059" "g.6638253G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617022G>A" "" "VUS" "" "0000166739" "2" "50" "11" "6637988" "6637988" "subst" "0" "00011" "TPP1_000060" "g.6637988G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6616757G>A" "" "VUS" "" "0000166740" "1" "70" "11" "6640007" "6640007" "subst" "0" "00011" "TPP1_000078" "g.6640007C>T" "" "{PMID:Kousi 2012:21990111}" "BslI-" "" "" "Germline" "" "" "0" "" "" "g.6618776C>T" "" "likely pathogenic" "" "0000166741" "1" "70" "11" "6640007" "6640007" "subst" "0" "00011" "TPP1_000078" "g.6640007C>T" "" "{PMID:Kousi 2012:21990111}" "BslI-" "" "" "Germline" "" "" "0" "" "" "g.6618776C>T" "" "likely pathogenic" "" "0000166742" "2" "50" "11" "6637559" "6637559" "del" "0" "00011" "TPP1_000088" "g.6637559del" "" "{PMID:Kousi 2012:21990111}" "BspQI-;SapI-" "" "" "Germline" "" "" "0" "" "" "g.6616328del" "" "VUS" "" "0000166743" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166744" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166745" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166746" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166747" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166748" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166749" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166750" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166751" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166752" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166753" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166754" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166755" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166756" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166757" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166758" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166759" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166760" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166761" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166762" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166763" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166764" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166765" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166766" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166767" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166768" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166769" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166770" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166771" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166772" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166773" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166774" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166775" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166776" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Hartikainen 1999:10356316}" "" "" "Added entry for 2nd allele." "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166777" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166778" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166779" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166780" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166781" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166782" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166783" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166784" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166785" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166786" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166787" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166788" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166789" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166790" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166791" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166792" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166793" "1" "70" "11" "6638268" "6638268" "subst" "4.06398E-6" "00011" "TPP1_000108" "g.6638268A>G" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617037A>G" "" "likely pathogenic" "" "0000166794" "2" "70" "11" "6638268" "6638268" "subst" "4.06398E-6" "00011" "TPP1_000108" "g.6638268A>G" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617037A>G" "" "likely pathogenic" "" "0000166795" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166796" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166797" "1" "70" "11" "6637287" "6637287" "subst" "1.62441E-5" "00011" "TPP1_000056" "g.6637287C>T" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6616056C>T" "" "likely pathogenic" "" "0000166798" "2" "50" "11" "6636123" "6636123" "subst" "1.21835E-5" "00011" "TPP1_000063" "g.6636123G>A" "" "{PMID:Kousi 2012:21990111}" "BfaI+;BstXI-" "" "" "Germline" "" "" "0" "" "" "g.6614892G>A" "" "VUS" "" "0000166799" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166800" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166801" "1" "50" "11" "6640481" "6640481" "dup" "0" "00011" "TPP1_000085" "g.6640481dup" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6619250dup" "" "VUS" "" "0000166802" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166803" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166804" "2" "70" "11" "6636138" "6636138" "subst" "0" "00011" "TPP1_000050" "g.6636138T>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6614907T>A" "" "likely pathogenic" "" "0000166805" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166806" "2" "50" "11" "6636123" "6636123" "subst" "1.21835E-5" "00011" "TPP1_000063" "g.6636123G>A" "" "{PMID:Kousi 2012:21990111}" "BfaI+;BstXI-" "" "" "Germline" "" "" "0" "" "" "g.6614892G>A" "" "VUS" "" "0000166807" "1" "50" "11" "6640422" "6640422" "subst" "4.06339E-6" "00011" "TPP1_000014" "g.6640422C>G" "" "{PMID:Kousi 2012:21990111}" "Tsp45I+;HincII-;Hpy166II-" "" "" "Germline" "" "" "0" "" "" "g.6619191C>G" "" "VUS" "" "0000166808" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166809" "1" "50" "11" "6640422" "6640422" "subst" "4.06339E-6" "00011" "TPP1_000014" "g.6640422C>G" "" "{PMID:Kousi 2012:21990111}" "Tsp45I+;HincII-;Hpy166II-" "" "" "Germline" "" "" "0" "" "" "g.6619191C>G" "" "VUS" "" "0000166810" "2" "50" "11" "6636123" "6636123" "subst" "1.21835E-5" "00011" "TPP1_000063" "g.6636123G>A" "" "{PMID:Kousi 2012:21990111}" "BfaI+;BstXI-" "" "" "Germline" "" "" "0" "" "" "g.6614892G>A" "" "VUS" "" "0000166811" "0" "10" "11" "6640052" "6640052" "subst" "0" "00011" "TPP1_000103" "g.6640052A>T" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6618821A>T" "" "benign" "" "0000166812" "1" "10" "11" "6638857" "6638857" "subst" "0" "00011" "TPP1_000039" "g.6638857C>T" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617626C>T" "" "benign" "" "0000166813" "2" "10" "11" "6638857" "6638857" "subst" "0" "00011" "TPP1_000039" "g.6638857C>T" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617626C>T" "" "benign" "" "0000166814" "1" "10" "11" "6638857" "6638857" "subst" "0" "00011" "TPP1_000039" "g.6638857C>T" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617626C>T" "" "benign" "" "0000166815" "2" "10" "11" "6638857" "6638857" "subst" "0" "00011" "TPP1_000039" "g.6638857C>T" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617626C>T" "" "benign" "" "0000166816" "1" "10" "11" "6638857" "6638857" "subst" "0" "00011" "TPP1_000039" "g.6638857C>T" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617626C>T" "" "benign" "" "0000166817" "2" "10" "11" "6638857" "6638857" "subst" "0" "00011" "TPP1_000039" "g.6638857C>T" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617626C>T" "" "benign" "" "0000166818" "1" "50" "11" "6638543" "6638543" "dup" "0" "00011" "TPP1_000079" "g.6638543dup" "" "{PMID:Kousi 2012:21990111}" "CviAII-;FatI-;NlaIII-" "" "" "Germline" "" "" "0" "" "" "g.6617312dup" "" "VUS" "" "0000166819" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166820" "0" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166821" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166822" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166823" "1" "70" "11" "6636403" "6636403" "subst" "1.6243E-5" "00011" "TPP1_000100" "g.6636403G>A" "" "{PMID:Kousi 2012:21990111}" "NmeAIII-" "" "" "Germline" "" "" "0" "" "" "g.6615172G>A" "" "likely pathogenic" "" "0000166824" "2" "70" "11" "6636403" "6636403" "subst" "1.6243E-5" "00011" "TPP1_000100" "g.6636403G>A" "" "{PMID:Kousi 2012:21990111}" "NmeAIII-" "" "" "Germline" "" "" "0" "" "" "g.6615172G>A" "" "likely pathogenic" "" "0000166825" "0" "50" "11" "6636151" "6636151" "del" "0" "00011" "TPP1_000075" "g.6636151del" "" "{PMID:Kousi 2012:21990111}" "MnlI-" "" "" "Germline" "" "" "0" "" "" "g.6614920del" "" "VUS" "" "0000166826" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "Homozygous for p.Ile17Ser in CLN8" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166827" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "Homozygous for p.Ile17Ser in CLN8" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166828" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166829" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166830" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166831" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166832" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166833" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166834" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166835" "2" "50" "11" "6636401" "6636401" "subst" "0" "00011" "TPP1_000006" "g.6636401C>G" "" "{PMID:Kousi 2012:21990111}" "BspCNI+;DdeI+;HphI-" "" "" "Germline" "" "" "0" "" "" "g.6615170C>G" "" "VUS" "" "0000166836" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166837" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166838" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166839" "2" "70" "11" "6636403" "6636403" "subst" "1.6243E-5" "00011" "TPP1_000100" "g.6636403G>A" "" "{PMID:Kousi 2012:21990111}" "NmeAIII-" "" "" "Germline" "" "" "0" "" "" "g.6615172G>A" "" "likely pathogenic" "" "0000166840" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166841" "2" "70" "11" "6636673" "6636673" "subst" "2.03039E-5" "00011" "TPP1_000062" "g.6636673C>G" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6615442C>G" "" "likely pathogenic" "" "0000166842" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166843" "2" "50" "11" "6636101" "6636102" "del" "0" "00011" "TPP1_000093" "g.6636101_6636102del" "" "{PMID:Kousi 2012:21990111}" "Hpy188I+;" "" "" "Germline" "" "" "0" "" "" "g.6614870_6614871del" "" "VUS" "" "0000166844" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166845" "2" "50" "11" "6637544" "6637544" "subst" "0" "00011" "TPP1_000033" "g.6637544A>G" "" "{PMID:Kousi 2012:21990111}" "BstEII-;HphI-;Tsp45I-" "" "" "Germline" "" "" "0" "" "" "g.6616313A>G" "" "VUS" "" "0000166846" "1" "50" "11" "6640422" "6640422" "subst" "4.06339E-6" "00011" "TPP1_000014" "g.6640422C>G" "" "{PMID:Kousi 2012:21990111}" "Tsp45I+;HincII-;Hpy166II-" "" "" "Germline" "" "" "0" "" "" "g.6619191C>G" "" "VUS" "" "0000166847" "2" "50" "11" "6638858" "6638858" "subst" "6.90344E-5" "00011" "TPP1_000038" "g.6638858G>A" "" "{PMID:Kousi 2012:21990111}" "BtsCI-;FokI-;MmeI-" "" "" "Germline" "" "" "0" "" "" "g.6617627G>A" "" "VUS" "" "0000166848" "1" "50" "11" "6640501" "6640501" "subst" "0" "00011" "TPP1_000012" "g.6640501G>C" "" "{PMID:Kousi 2012:21990111}" "SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6619270G>C" "" "VUS" "" "0000166849" "2" "50" "11" "6637941" "6637956" "del" "0" "00011" "TPP1_000086" "g.6637941_6637956del" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6616710_6616725del" "" "VUS" "" "0000166850" "0" "50" "11" "6640011" "6640011" "subst" "2.8462E-5" "00011" "TPP1_000002" "g.6640011T>C" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6618780T>C" "" "VUS" "" "0000166851" "0" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166852" "1" "50" "11" "6635792" "6635793" "del" "0" "00011" "TPP1_000089" "g.6635792_6635793del" "" "{PMID:Kousi 2012:21990111}" "HinfI-;MlyI-;PleI-" "" "" "Germline" "" "" "0" "" "" "g.6614561_6614562del" "" "VUS" "" "0000166853" "0" "70" "11" "6636147" "6636147" "subst" "0" "00011" "TPP1_000076" "g.6636147C>A" "" "{PMID:Kousi 2012:21990111}" "BslI-" "" "" "Germline" "" "" "0" "" "" "g.6614916C>A" "" "likely pathogenic" "" "0000166854" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166855" "2" "70" "11" "6636484" "6636484" "subst" "0" "00011" "TPP1_000035" "g.6636484G>A" "" "{PMID:Kousi 2012:21990111}" "AccI+;Hpy166II+;" "" "" "Germline" "" "" "0" "" "" "g.6615253G>A" "" "likely pathogenic" "" "0000166856" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166857" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166858" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166859" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166860" "0" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166861" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166862" "2" "50" "11" "6638660" "6638660" "subst" "0" "00011" "TPP1_000019" "g.6638660C>G" "" "{PMID:Kousi 2012:21990111}" "" "" "Added entry for 2nd allele." "Germline" "" "" "0" "" "" "g.6617429C>G" "" "VUS" "" "0000166863" "1" "50" "11" "6636403" "6636403" "del" "0" "00011" "TPP1_000101" "g.6636403del" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6615172del" "" "VUS" "" "0000166864" "2" "50" "11" "6636403" "6636403" "del" "0" "00011" "TPP1_000101" "g.6636403del" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6615172del" "" "VUS" "" "0000166865" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}, {PMID:Ju 2002:12414822}, {PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166866" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166867" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sleat 1999:10330339}, {PMID:Ju 2002:12414822}, {PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166868" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166869" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166870" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166871" "1" "50" "11" "6638660" "6638660" "subst" "0" "00011" "TPP1_000019" "g.6638660C>G" "" "{PMID:Kousi 2012:21990111}" "BpmI-;Hpy188III-" "" "" "Germline" "" "" "0" "" "" "g.6617429C>G" "" "VUS" "" "0000166872" "2" "70" "11" "6637927" "6637927" "subst" "8.12189E-6" "00011" "TPP1_000071" "g.6637927C>A" "" "{PMID:Kousi 2012:12414822}, {PMID:Ju 2002:21990111}" "BanI-;NlaIV-" "" "" "Germline" "" "" "0" "" "" "g.6616696C>A" "" "likely pathogenic" "" "0000166873" "1" "50" "11" "6638938" "6638938" "subst" "0.00226616" "00011" "TPP1_000058" "g.6638938T>C" "" "{PMID:Kousi 2012:21990111}" "HpyCH4V-" "" "" "Germline" "" "" "0" "" "" "g.6617707T>C" "" "VUS" "" "0000166874" "2" "50" "11" "6636668" "6636668" "subst" "0.00474315" "00011" "TPP1_000005" "g.6636668C>T" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6615437C>T" "" "VUS" "" "0000166875" "0" "50" "11" "6640422" "6640422" "subst" "4.06339E-6" "00011" "TPP1_000014" "g.6640422C>G" "" "{PMID:Kousi 2012:21990111}" "Tsp45I+;HincII-;Hpy166II-" "" "" "Germline" "" "" "0" "" "" "g.6619191C>G" "" "VUS" "" "0000166876" "0" "50" "11" "6640422" "6640422" "subst" "4.06339E-6" "00011" "TPP1_000014" "g.6640422C>G" "" "{PMID:Kousi 2012:21990111}" "Tsp45I+;HincII-;Hpy166II-" "" "" "Germline" "" "" "0" "" "" "g.6619191C>G" "" "VUS" "" "0000166877" "0" "50" "11" "6640040" "6640040" "subst" "1.21895E-5" "00011" "TPP1_000065" "g.6640040G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6618809G>A" "" "VUS" "" "0000166878" "0" "50" "11" "6640011" "6640011" "subst" "2.8462E-5" "00011" "TPP1_000002" "g.6640011T>C" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6618780T>C" "" "VUS" "" "0000166879" "0" "10" "11" "6638857" "6638857" "subst" "0" "00011" "TPP1_000039" "g.6638857C>T" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617626C>T" "" "benign" "" "0000166880" "0" "50" "11" "6635825" "6635825" "subst" "4.06075E-6" "00011" "TPP1_000106" "g.6635825C>T" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6614594C>T" "" "VUS" "" "0000166881" "0" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kousi 2012:21990111}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166882" "0" "70" "11" "6638276" "6638276" "subst" "4.06514E-6" "00011" "TPP1_000042" "g.6638276C>T" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617045C>T" "" "likely pathogenic" "" "0000166883" "0" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166884" "0" "70" "11" "6638247" "6638247" "subst" "0" "00011" "TPP1_000110" "g.6638247C>T" "" "{PMID:Kousi 2012:21990111}" "" "g.3694G>A" "" "Germline" "" "" "0" "" "" "g.6617016C>T" "" "likely pathogenic" "" "0000166885" "0" "50" "11" "6638065" "6638065" "subst" "0" "00011" "TPP1_000097" "g.6638065G>C" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6616834G>C" "" "VUS" "" "0000166886" "0" "50" "11" "6637632" "6637634" "delins" "0" "00011" "TPP1_000067" "g.6637632_6637634delinsGAG" "" "{PMID:Kousi 2012:21990111}" "BseRI+;" "" "" "Germline" "" "" "0" "" "" "g.6616401_6616403delinsGAG" "" "VUS" "" "0000166887" "0" "50" "11" "6637555" "6637733" "del" "0" "00011" "TPP1_000080" "g.6637555_6637733del" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6616324_6616502del" "" "VUS" "" "0000166888" "0" "50" "11" "6637640" "6637642" "del" "0" "00011" "TPP1_000052" "g.6637640_6637642del" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6616409_6616411del" "" "VUS" "" "0000166889" "0" "70" "11" "6637606" "6637606" "subst" "4.06154E-6" "00011" "TPP1_000047" "g.6637606G>A" "" "{PMID:Kousi 2012:21990111}" "BsrI+;AciI-;FauI-;MspA1I-" "" "" "Germline" "" "" "0" "" "" "g.6616375G>A" "" "likely pathogenic" "" "0000166890" "0" "70" "11" "6637557" "6637557" "subst" "0" "00011" "TPP1_000087" "g.6637557A>G" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6616326A>G" "" "likely pathogenic" "" "0000166891" "0" "70" "11" "6637287" "6637287" "subst" "1.62441E-5" "00011" "TPP1_000056" "g.6637287C>T" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6616056C>T" "" "likely pathogenic" "" "0000166892" "0" "70" "11" "6636403" "6636403" "subst" "1.6243E-5" "00011" "TPP1_000100" "g.6636403G>A" "" "{PMID:Kousi 2012:21990111}" "NmeAIII-" "" "" "Germline" "" "" "0" "" "" "g.6615172G>A" "" "likely pathogenic" "" "0000166893" "0" "70" "11" "6636209" "6636209" "subst" "4.06068E-6" "00011" "TPP1_000114" "g.6636209A>C" "" "{PMID:Elleder 2008:18283468} " "" "" "" "Germline" "" "" "0" "" "" "g.6614978A>C" "" "likely pathogenic" "" "0000166894" "0" "50" "11" "6636123" "6636123" "subst" "1.21835E-5" "00011" "TPP1_000063" "g.6636123G>A" "" "{PMID:Kousi 2012:21990111}" "BfaI+;BstXI-" "" "" "Germline" "" "" "0" "" "" "g.6614892G>A" "" "VUS" "" "0000166895" "0" "70" "11" "6637606" "6637606" "subst" "4.06154E-6" "00011" "TPP1_000047" "g.6637606G>A" "" "{PMID:Kousi 2012:21990111}" "BsrI+;AciI-;FauI-;MspA1I-" "" "" "Germline" "" "" "0" "" "" "g.6616375G>A" "" "likely pathogenic" "" "0000166896" "0" "50" "11" "6635792" "6635793" "del" "0" "00011" "TPP1_000089" "g.6635792_6635793del" "" "{PMID:Kousi 2012:21990111}" "HinfI-;MlyI-;PleI-" "" "" "Germline" "" "" "0" "" "" "g.6614561_6614562del" "" "VUS" "" "0000166897" "0" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "Caillaud, ASHG 1999, ABS 1287" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166898" "0" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "Caillaud, ASHG 1999, ABS 1287" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166899" "0" "50" "11" "6636123" "6636123" "subst" "1.21835E-5" "00011" "TPP1_000063" "g.6636123G>A" "" "Caillaud, ASHG 1999, ABS 1287" "BfaI+;BstXI-" "" "" "Germline" "" "" "0" "" "" "g.6614892G>A" "" "VUS" "" "0000166900" "0" "70" "11" "6638583" "6638583" "subst" "0" "00011" "TPP1_000096" "g.6638583A>G" "" "Caillaud, ASHG 1999, ABS 1287" "" "" "" "Germline" "" "" "0" "" "" "g.6617352A>G" "" "likely pathogenic" "" "0000166901" "0" "50" "11" "6637307" "6637307" "subst" "0" "00011" "TPP1_000032" "g.6637307T>C" "" "Caillaud, ASHG 1999, ABS 1287" "" "" "" "Germline" "" "" "0" "" "" "g.6616076T>C" "" "VUS" "" "0000166902" "0" "50" "11" "6635851" "6635861" "del" "0" "00011" "TPP1_000057" "g.6635851_6635861del" "" "Caillaud, ASHG 1999, ABS 1287" "AvaII-" "" "" "Germline" "" "" "0" "" "" "g.6614620_6614630del" "" "VUS" "" "0000166903" "0" "70" "11" "6638288" "6638288" "subst" "0" "00011" "TPP1_000094" "g.6638288G>A" "" "{PMID:Mole 2001:11589012}" "" "" "" "Germline" "" "" "0" "" "" "g.6617057G>A" "" "likely pathogenic" "" "0000166904" "1" "50" "11" "6638802" "6638802" "subst" "0" "00011" "TPP1_000016" "g.6638802C>T" "" "{PMID:Mole 2001:11589012}" "FokI-;XcmI-" "" "" "Germline" "" "" "0" "" "" "g.6617571C>T" "" "VUS" "" "0000166905" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "Franken, ASHG 1999, ABS 1307" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166906" "2" "50" "11" "6638802" "6638802" "subst" "0" "00011" "TPP1_000016" "g.6638802C>T" "" "{PMID:Mole 2001:11589012}" "FokI-;XcmI-" "" "" "Germline" "" "" "0" "" "" "g.6617571C>T" "" "VUS" "" "0000166907" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "Franken, ASHG 1999, ABS 1307" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166908" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "Franken, ASHG 1999, ABS 1307" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166909" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "Franken, ASHG 1999, ABS 1307" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166910" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "Franken, ASHG 1999, ABS 1307" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166911" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "Franken, ASHG 1999, ABS 1307" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166912" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "Franken, ASHG 1999, ABS 1307" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166913" "2" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "Franken, ASHG 1999, ABS 1307" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166914" "0" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "Franken, ASHG 1999, ABS 1307" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166915" "0" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "Franken, ASHG 1999, ABS 1307" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166916" "0" "50" "11" "6638369" "6638369" "subst" "1.62473E-5" "00011" "TPP1_000040" "g.6638369C>T" "" "{PMID:Kousi 2012:21990111}" "HpyCH4III-" "" "" "Germline" "" "" "0" "" "" "g.6617138C>T" "" "VUS" "" "0000166917" "0" "50" "11" "6638369" "6638369" "subst" "1.62473E-5" "00011" "TPP1_000040" "g.6638369C>T" "" "{PMID:Kousi 2012:21990111}" "HpyCH4III-" "" "" "Germline" "" "" "0" "" "" "g.6617138C>T" "" "VUS" "" "0000166918" "0" "50" "11" "0" "0" "" "0" "00011" "TPP1_000003" "g.?" "" "{PMID:Noher de Halac 2005}" "" "Polymorphism" "transiently cln2.076" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000166919" "1" "50" "11" "6640423" "6640423" "subst" "0" "00011" "TPP1_000015" "g.6640423T>C" "" "{PMID:Kohan 2005:19793312}" "" "IVS2+4A>G" "" "Germline" "" "" "0" "" "" "g.6619192T>C" "" "VUS" "" "0000166920" "2" "50" "11" "6640040" "6640040" "subst" "1.21895E-5" "00011" "TPP1_000065" "g.6640040G>A" "" "{PMID:Kohan 2009:19793312}" "" "" "Also Noher de Halac,2005" "Germline" "" "" "0" "" "" "g.6618809G>A" "" "VUS" "" "0000166921" "0" "90" "11" "6637935" "6637935" "subst" "0" "00011" "TPP1_000091" "g.6637935C>A" "" "{PMID:Kousi 2012:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.6616704C>A" "" "pathogenic" "" "0000166922" "1" "50" "11" "6638632" "6638635" "dup" "0" "00011" "TPP1_000066" "g.6638632_6638635dup" "" "{PMID:Chang 2012:22245569}" "BslI+;Cac8I+;" "c.409-410insGCTG" "" "Germline" "" "" "0" "" "" "g.6617401_6617404dup" "" "VUS" "" "0000166923" "2" "50" "11" "6636101" "6636102" "ins" "0" "00011" "TPP1_000054" "g.6636101_6636102insTGAA" "" "{PMID:Chang 2012:22245569}" "" "c.1546-1547insTTCA" "" "Germline" "" "" "0" "" "" "g.6614870_6614871insTGAA" "" "VUS" "" "0000166924" "1" "50" "11" "6640007" "6640007" "subst" "0" "00011" "TPP1_000077" "g.6640007C>A" "" "{PMID:Chang 2012:22245569}" "BslI-" "" "" "Germline" "" "" "0" "" "" "g.6618776C>A" "" "VUS" "" "0000166925" "2" "50" "11" "6638672" "6638685" "del" "0" "00011" "TPP1_000020" "g.6638672_6638685del" "" "{PMID:Chang 2012:22245569}" "" "IVS4-17~-4delTGTTCTCTGACCTC" "" "Germline" "" "" "0" "" "" "g.6617441_6617454del" "" "VUS" "" "0000166926" "1" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Chang 2012:22245569}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166927" "2" "50" "11" "6638253" "6638253" "subst" "4.06445E-6" "00011" "TPP1_000059" "g.6638253G>A" "" "{PMID:Chang 2012:22245569}" "" "" "" "Germline" "" "" "0" "" "" "g.6617022G>A" "" "VUS" "" "0000166928" "1" "50" "11" "6638253" "6638253" "subst" "4.06445E-6" "00011" "TPP1_000059" "g.6638253G>A" "" "{PMID:Chang 2012:22245569}" "" "" "" "Germline" "" "" "0" "" "" "g.6617022G>A" "" "VUS" "" "0000166929" "2" "70" "11" "6638243" "6638243" "subst" "4.06385E-6" "00011" "TPP1_000070" "g.6638243C>A" "" "{PMID:Chang 2012:22245569}" "" "" "" "Germline" "" "" "0" "" "" "g.6617012C>A" "" "likely pathogenic" "" "0000166930" "0" "50" "11" "6640058" "6640061" "del" "0" "00011" "TPP1_000122" "g.6640058_6640061del" "" "{PMID:Chang 2012:22245569}" "" "177-180delAAGA" "" "Germline" "" "" "0" "" "" "g.6618827_6618830del" "" "VUS" "" "0000166931" "1" "50" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Minh 2012:21940688}" "BmrI+;BsrI+;SfcI-" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "VUS" "" "0000166932" "2" "50" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Minh 2012:21940688}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "VUS" "" "0000166950" "0" "70" "11" "6636097" "6636097" "subst" "0" "00011" "TPP1_000053" "g.6636097A>T" "" "" "" "" "from NCL database, not in papers indicated" "Germline" "" "" "0" "" "" "g.6614866A>T" "" "likely pathogenic" "" "0000166961" "3" "10" "11" "6636668" "6636668" "subst" "0.00474315" "00006" "TPP1_000005" "g.6636668C>T" "1/82 individuals" "{PMID:Sleat 1999:10330339}" "" "5276G>A (AF039704)" "" "Germline" "" "" "0" "" "" "g.6615437C>T" "" "benign" "" "0000166962" "0" "10" "11" "6638174" "6638174" "subst" "0.107489" "00006" "TPP1_000123" "g.6638174A>G" "0.30 (het), 0.07 (hom)" "{PMID:Sleat 1999:10330339}" "" "3767T>C (AF039704)" "" "Germline" "" "" "0" "" "" "g.6616943A>G" "" "benign" "" "0000166963" "0" "10" "11" "6638938" "6638938" "subst" "0.00226616" "00006" "TPP1_000058" "g.6638938T>C" "0.05 (het), 0.05 (hom)" "{PMID:Sleat 1999:10330339}" "" "3004A>G (AF039704)" "" "Germline" "" "" "0" "" "" "g.6617707T>C" "" "benign" "" "0000166967" "1" "10" "11" "6640734" "6640734" "subst" "0" "00011" "TPP1_000120" "g.6640734C>T" "2/90 chromosomes" "{PMID:Sleat 1999:10330339}" "" "1224G>A (AF039704)" "" "Germline" "" "" "0" "" "" "g.6619503C>T" "" "benign" "" "0000166968" "0" "10" "11" "6640753" "6640753" "subst" "0" "00011" "TPP1_000119" "g.6640753A>G" "0.04 (het), 0.06 (hom)" "{PMID:Sleat 1999:10330339}" "" "1205T>C (AF039704)" "" "Germline" "" "" "0" "" "" "g.6619522A>G" "" "benign" "" "0000166969" "0" "10" "11" "6640781" "6640781" "subst" "0" "00011" "TPP1_000121" "g.6640781C>T" "0.02 (het), 0.06 (hom)" "{PMID:Sleat 1999:10330339}" "" "1177G>A (AF039704)" "" "Germline" "" "" "0" "" "" "g.6619550C>T" "" "benign" "" "0000166970" "0" "10" "11" "6640869" "6640869" "subst" "0" "00011" "TPP1_000118" "g.6640869A>G" "0.30 (het), 0.15 (hom)" "{PMID:Sleat 1999:10330339}" "" "1089T>C (AF039704)" "" "Germline" "" "" "0" "" "" "g.6619638A>G" "" "benign" "" "0000166971" "0" "10" "11" "6636300" "6636300" "subst" "0" "00011" "TPP1_000116" "g.6636300A>G" "0.23 (het), 0.05 (hom)" "{PMID:Sleat 1999:10330339}" "" "5644T>C (AF039704)" "" "Germline" "" "" "0" "" "" "g.6615069A>G" "" "benign" "" "0000166972" "1" "50" "11" "6636286" "6636286" "subst" "0" "00011" "TPP1_000117" "g.6636286T>C" "4/84 chromosomes" "{PMID:Sleat 1999:10330339}" "" "5658A>G (AF039704)" "" "Germline" "" "" "0" "" "" "g.6615055T>C" "" "VUS" "" "0000166973" "0" "10" "11" "6634659" "6634659" "subst" "0" "00011" "TPP1_000115" "g.6634659C>G" "" "{PMID:Liu 1998:9653647}" "" "2843S (AF039704)" "" "Germline" "" "" "0" "" "" "g.6613428C>G" "" "benign" "" "0000166974" "0" "50" "11" "6637323" "6637323" "subst" "0.00786036" "00011" "TPP1_000030" "g.6637323T>C" "" "{PMID:Kousi:21990111}, Rothberg pers.comm. to NCL database" "" "" "" "Germline" "" "" "0" "" "" "g.6616092T>C" "" "VUS" "" "0000166975" "1" "10" "11" "6636920" "6636920" "subst" "0" "00011" "TPP1_000034" "g.6636920G>C" "18/128 chromosomes" "{PMID:Sleat 1999:10330339}" "" "5044C>G (AF039704)" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000166976" "0" "10" "11" "6636106" "6636106" "subst" "0.19033" "00011" "TPP1_000004" "g.6636106T>A" "0.14 (het), 0.02 (hom)" "{PMID:Sleat 1999:10330339}" "" "5837A>T (AF039704)" "" "Germline" "" "" "0" "" "" "g.6614875T>A" "" "benign" "" "0000166977" "0" "50" "11" "6638665" "6638665" "subst" "0" "00011" "TPP1_000017" "g.6638665G>A" "" "{PMID:Kousi 2012:21990111}" "BpmI-" "" "variant not listed in paper" "Germline" "" "" "0" "" "" "g.6617434G>A" "" "VUS" "" "0000166978" "0" "10" "11" "6638506" "6638506" "subst" "0.560529" "00011" "TPP1_000021" "g.6638506A>T" "0.40 (het), 0.46 (hom)" "{PMID:Sleat 1999:10330339}" "BccI+;BtsCI+;FokI+;" "3436A>T (AF039704)" "" "Germline" "" "" "0" "" "" "g.6617275A>T" "" "benign" "" "0000166979" "0" "10" "11" "6638100" "6638100" "subst" "8.12618E-6" "00011" "TPP1_000025" "g.6638100G>A" "" "{PMID:Ju 2002:12414822}" "HinfI-;MlyI-;PleI-" "IVS6-10C>T, 3841C>T (AF039704)" "" "Germline" "" "" "0" "" "" "g.6616869G>A" "" "benign" "" "0000166980" "0" "10" "11" "6637875" "6637875" "subst" "0" "00011" "TPP1_000027" "g.6637875A>G" "" "{PMID:Ju 2002:12414822}" "" "IVS7+17T>C, 4066T>C (AF039704)" "" "Germline" "" "" "0" "" "" "g.6616644A>G" "" "benign" "" "0000166981" "0" "10" "11" "6637851" "6637851" "subst" "0" "00011" "TPP1_000028" "g.6637851C>G" "" "{PMID:Ju 2002:12414822}" "" "IVS7+41G>C, 4090G>C (AF039704)" "" "Germline" "" "" "0" "" "" "g.6616620C>G" "" "benign" "" "0000166982" "1" "10" "11" "6640190" "6640190" "subst" "0.000790784" "00011" "TPP1_000013" "g.6640190G>A" "1/58 chromosomes" "{PMID:Sleat 1999:10330339}" "BccI-" "1767C>T (AF039704)" "" "Germline" "" "" "0" "" "" "g.6618959G>A" "" "benign" "" "0000247007" "0" "10" "11" "6645293" "6645293" "subst" "0.00831451" "02330" "DCHS1_000075" "g.6645293A>C" "" "" "" "DCHS1(NM_003737.4):c.7614T>G (p.A2538=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6624062A>C" "" "benign" "" "0000249756" "0" "50" "11" "6630320" "6630320" "subst" "2.84245E-5" "02325" "ILK_000007" "g.6630320A>C" "" "" "" "ILK(NM_001014795.3):c.551A>C (p.K184T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6609089A>C" "" "VUS" "" "0000249845" "0" "50" "11" "6631691" "6631691" "subst" "2.43685E-5" "02325" "ILK_000020" "g.6631691A>G" "" "" "" "ILK(NM_001014795.3):c.1210-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6610460A>G" "" "VUS" "" "0000251494" "0" "10" "11" "6637499" "6637499" "subst" "3.27523E-5" "02326" "TPP1_000129" "g.6637499A>T" "" "" "" "TPP1(NM_000391.4):c.1075+47T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6616268A>T" "" "benign" "" "0000251938" "0" "30" "11" "6630618" "6630618" "subst" "0.00030874" "02326" "ILK_000011" "g.6630618A>G" "" "" "" "ILK(NM_001014795.3):c.707A>G (p.N236S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6609387A>G" "" "likely benign" "" "0000251969" "0" "30" "11" "6630007" "6630007" "subst" "0.000698574" "02326" "ILK_000005" "g.6630007A>C" "" "" "" "ILK(NM_001014795.3):c.435A>C (p.R145S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000252748" "0" "50" "11" "6630349" "6630349" "subst" "2.03037E-5" "02326" "ILK_000008" "g.6630349A>G" "" "" "" "ILK(NM_001014795.3):c.580A>G (p.N194D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6609118A>G" "" "VUS" "" "0000253848" "0" "10" "11" "6631369" "6631369" "subst" "4.87322E-5" "01943" "ILK_000019" "g.6631369A>C" "" "" "" "ILK(NM_001014795.3):c.1079-10A>C, ILK(NM_004517.2):c.1079-10A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6610138A>C" "" "benign" "" "0000255637" "0" "90" "11" "6636430" "6636430" "subst" "4.06068E-6" "01943" "TPP1_000113" "g.6636430A>C" "" "" "" "TPP1(NM_000391.3):c.1397T>G (p.V466G), TPP1(NM_000391.4):c.1397T>G (p.V466G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6615199A>C" "" "pathogenic" "" "0000265238" "0" "10" "11" "6645209" "6645209" "subst" "0" "02330" "DCHS1_000034" "g.6645209T>C" "" "" "" "DCHS1(NM_003737.4):c.7698A>G (p.T2566=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6623978T>C" "" "benign" "" "0000265239" "0" "10" "11" "6645068" "6645068" "subst" "0.00378156" "02330" "DCHS1_000033" "g.6645068C>T" "" "" "" "DCHS1(NM_003737.4):c.7839G>A (p.E2613=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6623837C>T" "" "benign" "" "0000265240" "0" "10" "11" "6644600" "6644600" "subst" "0.176717" "02330" "DCHS1_000026" "g.6644600C>T" "" "" "" "DCHS1(NM_003737.4):c.8307G>A (p.A2769=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6623369C>T" "" "benign" "" "0000265241" "0" "10" "11" "6644427" "6644427" "subst" "0.0517571" "02330" "DCHS1_000022" "g.6644427C>G" "" "" "" "DCHS1(NM_003737.4):c.8480G>C (p.R2827P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6623196C>G" "" "benign" "" "0000265242" "0" "10" "11" "6644308" "6644308" "subst" "0.00547244" "02330" "DCHS1_000020" "g.6644308C>T" "" "" "" "DCHS1(NM_003737.2):c.8599G>A (p.(Ala2867Thr)), DCHS1(NM_003737.4):c.8599G>A (p.A2867T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6623077C>T" "" "benign" "" "0000265243" "0" "10" "11" "6644270" "6644270" "subst" "0" "02330" "DCHS1_000019" "g.6644270G>A" "" "" "" "DCHS1(NM_003737.2):c.8640C>T (p.G2880=), DCHS1(NM_003737.4):c.8637C>T (p.S2879=, p.(Ser2879=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6623039G>A" "" "benign" "" "0000265244" "0" "10" "11" "6643976" "6643976" "subst" "0.192222" "02330" "DCHS1_000011" "g.6643976C>T" "" "" "" "DCHS1(NM_003737.4):c.8931G>A (p.Q2977=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6622745C>T" "" "benign" "" "0000265245" "0" "10" "11" "6643664" "6643664" "subst" "0.000273887" "02330" "DCHS1_000007" "g.6643664G>A" "" "" "" "DCHS1(NM_003737.2):c.9246C>T (p.D3082=), DCHS1(NM_003737.4):c.9243C>T (p.C3081=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6622433G>A" "" "benign" "" "0000267285" "0" "30" "11" "6644149" "6644149" "subst" "0.000853521" "02325" "DCHS1_000017" "g.6644149C>T" "" "" "" "DCHS1(NM_003737.2):c.8761G>A (p.D2921N), DCHS1(NM_003737.4):c.8758G>A (p.V2920M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6622918C>T" "" "likely benign" "" "0000268654" "0" "50" "11" "6644464" "6644464" "subst" "9.47724E-5" "02329" "DCHS1_000024" "g.6644464C>T" "" "" "" "DCHS1(NM_003737.2):c.8446G>A (p.A2816T), DCHS1(NM_003737.4):c.8443G>A (p.A2815T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6623233C>T" "" "VUS" "" "0000274828" "0" "50" "11" "6645525" "6645525" "subst" "0" "01943" "DCHS1_000077" "g.6645525C>T" "" "" "" "DCHS1(NM_003737.2):c.7385G>A (p.R2462Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6624294C>T" "" "VUS" "" "0000274829" "0" "30" "11" "6645369" "6645369" "subst" "0.000420847" "01943" "DCHS1_000076" "g.6645369C>T" "" "" "" "DCHS1(NM_003737.2):c.7541G>A (p.S2514N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6624138C>T" "" "likely benign" "" "0000274830" "0" "50" "11" "6644721" "6644721" "subst" "0.000123025" "01943" "DCHS1_000032" "g.6644721T>A" "" "" "" "DCHS1(NM_003737.2):c.8189A>T (p.E2730V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6623490T>A" "" "VUS" "" "0000274831" "0" "30" "11" "6644714" "6644714" "subst" "1.4641E-5" "01943" "DCHS1_000031" "g.6644714G>A" "" "" "" "DCHS1(NM_003737.2):c.8196C>T (p.D2732=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6623483G>A" "" "likely benign" "" "0000274832" "0" "30" "11" "6644686" "6644686" "subst" "0" "01943" "DCHS1_000030" "g.6644686G>C" "" "" "" "DCHS1(NM_003737.2):c.8224C>G (p.R2742G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6623455G>C" "" "likely benign" "" "0000274834" "0" "50" "11" "6644641" "6644641" "subst" "0" "01943" "DCHS1_000029" "g.6644641C>T" "" "" "" "DCHS1(NM_003737.2):c.8269G>A (p.A2757T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6623410C>T" "" "VUS" "" "0000274838" "0" "30" "11" "6644311" "6644311" "subst" "0" "01943" "DCHS1_000021" "g.6644311C>T" "" "" "" "DCHS1(NM_003737.2):c.8599G>A (p.A2867T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6623080C>T" "" "likely benign" "" "0000274841" "0" "30" "11" "6643935" "6643935" "subst" "7.76044E-5" "01943" "DCHS1_000010" "g.6643935C>T" "" "" "" "DCHS1(NM_003737.2):c.8975G>A (p.G2992E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6622704C>T" "" "likely benign" "" "0000274845" "0" "50" "11" "6643502" "6643502" "subst" "5.63439E-5" "01943" "DCHS1_000005" "g.6643502G>A" "" "" "" "DCHS1(NM_003737.2):c.9408C>T (p.P3136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6622271G>A" "" "VUS" "" "0000281532" "0" "30" "11" "6630542" "6630542" "subst" "0.000930214" "02325" "ILK_000001" "g.6630542C>T" "" "" "" "ILK(NM_001014795.3):c.631C>T (p.R211C), ILK(NM_004517.2):c.631C>T (p.R211C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6609311C>T" "" "likely benign" "" "0000281533" "0" "50" "11" "6630566" "6630566" "subst" "3.25E-5" "02325" "ILK_000010" "g.6630566G>A" "" "" "" "ILK(NM_001014795.3):c.655G>A (p.V219M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6609335G>A" "" "VUS" "" "0000281534" "0" "30" "11" "6630652" "6630652" "subst" "2.84437E-5" "02325" "ILK_000012" "g.6630652G>A" "" "" "" "ILK(NM_001014795.3):c.728+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6609421G>A" "" "likely benign" "" "0000281535" "0" "30" "11" "6630962" "6630962" "subst" "0.000186785" "02325" "ILK_000015" "g.6630962C>T" "" "" "" "ILK(NM_001014795.3):c.864C>T (p.V288=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6609731C>T" "" "likely benign" "" "0000281536" "0" "30" "11" "6631025" "6631025" "subst" "0" "02325" "ILK_000017" "g.6631025C>T" "" "" "" "ILK(NM_001014795.3):c.927C>T (p.H309=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6609794C>T" "" "likely benign" "" "0000285284" "0" "10" "11" "6631361" "6631361" "subst" "0.015123" "02326" "ILK_000018" "g.6631361C>T" "" "" "" "ILK(NM_004517.2):c.1079-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6610130C>T" "" "benign" "" "0000285285" "0" "30" "11" "6630524" "6630524" "subst" "0.000865171" "02326" "ILK_000009" "g.6630524C>T" "" "" "" "ILK(NM_001014795.3):c.619-6C>T, ILK(NM_004517.2):c.619-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6609293C>T" "" "likely benign" "" "0000285286" "0" "30" "11" "6630542" "6630542" "subst" "0.000930214" "02326" "ILK_000001" "g.6630542C>T" "" "" "" "ILK(NM_001014795.3):c.631C>T (p.R211C), ILK(NM_004517.2):c.631C>T (p.R211C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6609311C>T" "" "likely benign" "" "0000289606" "0" "10" "11" "6631361" "6631361" "subst" "0.015123" "01943" "ILK_000018" "g.6631361C>T" "" "" "" "ILK(NM_004517.2):c.1079-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6610130C>T" "" "benign" "" "0000289607" "0" "10" "11" "6629665" "6629665" "subst" "0.261344" "01943" "ILK_000004" "g.6629665C>T" "" "" "" "ILK(NM_004517.2):c.297C>T (p.H99=), ILK(NM_004517.4):c.297C>T (p.H99=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6608435C>T" "" "benign" "" "0000289608" "0" "10" "11" "6630109" "6630109" "subst" "0" "01943" "ILK_000006" "g.6630109C>T" "" "" "" "ILK(NM_004517.2):c.449-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6608878C>T" "" "benign" "" "0000289609" "0" "10" "11" "6630666" "6630666" "subst" "0.000593207" "01943" "ILK_000013" "g.6630666G>C" "" "" "" "ILK(NM_004517.2):c.728+27G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6609435G>C" "" "benign" "" "0000289610" "0" "10" "11" "6630833" "6630833" "subst" "0.269612" "01943" "ILK_000014" "g.6630833G>A" "" "" "" "ILK(NM_004517.2):c.819G>A (p.P273=), ILK(NM_004517.4):c.819G>A (p.P273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6609602G>A" "" "benign" "" "0000289611" "0" "10" "11" "6631016" "6631016" "subst" "0.229201" "01943" "ILK_000016" "g.6631016C>T" "" "" "" "ILK(NM_004517.2):c.918C>T (p.A306=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6609785C>T" "" "benign" "" "0000312015" "0" "30" "11" "6636444" "6636444" "subst" "4.46679E-5" "02325" "TPP1_000126" "g.6636444C>T" "" "" "" "TPP1(NM_000391.4):c.1383G>A (p.V461=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6615213C>T" "" "likely benign" "" "0000312016" "0" "10" "11" "6636106" "6636106" "subst" "0.19033" "02325" "TPP1_000004" "g.6636106T>A" "" "" "" "TPP1(NM_000391.3):c.1542A>T (p.G514=), TPP1(NM_000391.4):c.1542A>T (p.G514=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6614875T>A" "" "benign" "" "0000312017" "0" "50" "11" "6635871" "6635871" "subst" "4.06068E-6" "02325" "TPP1_000125" "g.6635871C>T" "" "" "" "TPP1(NM_000391.4):c.1598G>A (p.G533D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6614640C>T" "" "VUS" "" "0000312018" "0" "90" "11" "6638385" "6638385" "subst" "0.000410279" "02325" "TPP1_000022" "g.6638385C>G" "" "" "" "TPP1(NM_000391.3):c.509-1G>C (p.?), TPP1(NM_000391.4):c.509-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6617154C>G" "" "pathogenic" "" "0000312019" "0" "90" "11" "6638271" "6638271" "subst" "0.000235746" "02325" "TPP1_000043" "g.6638271G>A" "" "" "" "TPP1(NM_000391.3):c.622C>T (p.R208*, p.(Arg208Ter)), TPP1(NM_000391.4):c.622C>T (p.R208*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6617040G>A" "" "pathogenic" "" "0000312020" "0" "30" "11" "6637938" "6637938" "subst" "0.00255032" "02325" "TPP1_000139" "g.6637938C>G" "" "" "" "TPP1(NM_000391.4):c.840G>C (p.L280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6616707C>G" "" "likely benign" "" "0000312021" "0" "90" "11" "6637927" "6637927" "subst" "8.12189E-6" "02325" "TPP1_000071" "g.6637927C>A" "" "" "" "TPP1(NM_000391.4):c.851G>T (p.G284V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6616696C>A" "" "pathogenic" "" "0000312022" "0" "10" "11" "6637758" "6637759" "del" "0" "02325" "TPP1_000133" "g.6637758_6637759del" "" "" "" "TPP1(NM_000391.3):c.887-7_887-6del (p.(=)), TPP1(NM_000391.3):c.887-7_887-6delAA, TPP1(NM_000391.4):c.887-7_887-6delAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6616527_6616528del" "" "benign" "" "0000314803" "0" "70" "11" "6637605" "6637605" "subst" "4.06118E-6" "02326" "TPP1_000046" "g.6637605C>T" "" "" "" "TPP1(NM_000391.3):c.1016G>A (p.R339Q, p.(Arg339Gln)), TPP1(NM_000391.4):c.1016G>A (p.R339Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6616374C>T" "" "likely pathogenic" "" "0000314804" "0" "90" "11" "6637573" "6637573" "subst" "0" "02326" "TPP1_000130" "g.6637573G>A" "" "" "" "TPP1(NM_000391.4):c.1048C>T (p.R350W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6616342G>A" "" "pathogenic" "" "0000314805" "0" "10" "11" "6637264" "6637264" "subst" "0.00200206" "02326" "TPP1_000128" "g.6637264G>C" "" "" "" "TPP1(NM_000391.3):c.1117C>G (p.Q373E), TPP1(NM_000391.4):c.1117C>G (p.Q373E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6616033G>C" "" "benign" "" "0000314806" "0" "50" "11" "6637239" "6637239" "subst" "4.06095E-6" "02326" "TPP1_000127" "g.6637239G>C" "" "" "" "TPP1(NM_000391.4):c.1142C>G (p.S381C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6616008G>C" "" "VUS" "" "0000314807" "0" "30" "11" "6636668" "6636668" "subst" "0.00474315" "02326" "TPP1_000005" "g.6636668C>T" "" "" "" "TPP1(NM_000391.3):c.1266+5G>A (p.?), TPP1(NM_000391.4):c.1266+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6615437C>T" "" "likely benign" "" "0000314809" "0" "10" "11" "6637757" "6637759" "del" "0" "02326" "TPP1_000134" "g.6637757_6637759del" "" "" "" "TPP1(NM_000391.3):c.887-8_887-6del (p.(=)), TPP1(NM_000391.4):c.887-8_887-6delAAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6616526_6616528del" "" "benign" "" "0000314810" "0" "10" "11" "6637758" "6637759" "del" "0" "02326" "TPP1_000135" "g.6637758_6637759del" "" "" "" "TPP1(NM_000391.3):c.887-7_887-6del (p.(=)), TPP1(NM_000391.3):c.887-7_887-6delAA, TPP1(NM_000391.4):c.887-7_887-6delAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6616527_6616528del" "" "benign" "" "0000314811" "0" "10" "11" "6637759" "6637759" "del" "0" "02326" "TPP1_000136" "g.6637759del" "" "" "" "TPP1(NM_000391.3):c.887-6delA, TPP1(NM_000391.3):c.887-6delA (p.(=)), TPP1(NM_000391.4):c.887-6delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6616528del" "" "benign" "" "0000316971" "0" "70" "11" "6637605" "6637605" "subst" "4.06118E-6" "01943" "TPP1_000046" "g.6637605C>T" "" "" "" "TPP1(NM_000391.3):c.1016G>A (p.R339Q, p.(Arg339Gln)), TPP1(NM_000391.4):c.1016G>A (p.R339Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6616374C>T" "" "likely pathogenic" "" "0000316972" "0" "10" "11" "6637264" "6637264" "subst" "0.00200206" "01943" "TPP1_000128" "g.6637264G>C" "" "" "" "TPP1(NM_000391.3):c.1117C>G (p.Q373E), TPP1(NM_000391.4):c.1117C>G (p.Q373E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6616033G>C" "" "benign" "" "0000316973" "0" "30" "11" "6640114" "6640114" "subst" "1.62752E-5" "01943" "TPP1_000145" "g.6640114G>A" "" "" "" "TPP1(NM_000391.3):c.122C>T (p.A41V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6618883G>A" "" "likely benign" "" "0000316974" "0" "10" "11" "6636106" "6636106" "subst" "0.19033" "01943" "TPP1_000004" "g.6636106T>A" "" "" "" "TPP1(NM_000391.3):c.1542A>T (p.G514=), TPP1(NM_000391.4):c.1542A>T (p.G514=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6614875T>A" "" "benign" "" "0000316975" "0" "30" "11" "6635816" "6635816" "subst" "0.000134009" "01943" "TPP1_000124" "g.6635816G>C" "" "" "" "TPP1(NM_000391.3):c.1653C>G (p.P551=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6614585G>C" "" "likely benign" "" "0000316976" "0" "50" "11" "6640045" "6640059" "del" "0" "01943" "TPP1_000144" "g.6640045_6640059del" "" "" "" "TPP1(NM_000391.3):c.177_191delAAGACTCTCGGAGCT (p.R60_L64del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6618814_6618828del" "" "VUS" "" "0000316977" "0" "50" "11" "6640040" "6640042" "del" "0" "01943" "TPP1_000143" "g.6640040_6640042del" "" "" "" "TPP1(NM_000391.3):c.194_196delTGC (p.V65_Q66delinsE)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6618809_6618811del" "" "VUS" "" "0000316978" "0" "30" "11" "6638938" "6638938" "subst" "0.00226616" "01943" "TPP1_000058" "g.6638938T>C" "" "" "" "TPP1(NM_000391.3):c.299A>G (p.Q100R, p.(Gln100Arg)), TPP1(NM_000391.4):c.299A>G (p.Q100R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6617707T>C" "" "likely benign" "" "0000316979" "0" "90" "11" "6638385" "6638385" "subst" "0.000410279" "01943" "TPP1_000022" "g.6638385C>G" "" "" "" "TPP1(NM_000391.3):c.509-1G>C (p.?), TPP1(NM_000391.4):c.509-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6617154C>G" "" "pathogenic" "" "0000316980" "0" "10" "11" "6638340" "6638340" "subst" "0.000840916" "01943" "TPP1_000140" "g.6638340G>A" "" "" "" "TPP1(NM_000391.3):c.553C>T (p.R185C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6617109G>A" "" "benign" "" "0000316981" "0" "90" "11" "6638271" "6638271" "subst" "0.000235746" "01943" "TPP1_000043" "g.6638271G>A" "" "" "" "TPP1(NM_000391.3):c.622C>T (p.R208*, p.(Arg208Ter)), TPP1(NM_000391.4):c.622C>T (p.R208*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6617040G>A" "" "pathogenic" "" "0000316982" "0" "30" "11" "6637919" "6637919" "subst" "2.84259E-5" "01943" "TPP1_000138" "g.6637919T>C" "" "" "" "TPP1(NM_000391.3):c.859A>G (p.I287V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6616688T>C" "" "likely benign" "" "0000316983" "0" "10" "11" "6637759" "6637759" "del" "0" "01943" "TPP1_000136" "g.6637759del" "" "" "" "TPP1(NM_000391.3):c.887-6delA, TPP1(NM_000391.3):c.887-6delA (p.(=)), TPP1(NM_000391.4):c.887-6delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6616528del" "" "benign" "" "0000316984" "0" "10" "11" "6637758" "6637759" "del" "0" "01943" "TPP1_000135" "g.6637758_6637759del" "" "" "" "TPP1(NM_000391.3):c.887-7_887-6del (p.(=)), TPP1(NM_000391.3):c.887-7_887-6delAA, TPP1(NM_000391.4):c.887-7_887-6delAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6616527_6616528del" "" "benign" "" "0000322003" "0" "50" "11" "6637576" "6637576" "subst" "8.12532E-6" "01804" "TPP1_000131" "g.6637576C>T" "" "" "" "TPP1(NM_000391.3):c.1045G>A (p.(Ala349Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6616345C>T" "" "VUS" "" "0000322004" "0" "50" "11" "6637588" "6637588" "subst" "0.00166108" "01804" "TPP1_000132" "g.6637588T>G" "" "" "" "TPP1(NM_000391.3):c.1033A>C (p.M345L, p.(Met345Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6616357T>G" "" "VUS" "" "0000322005" "0" "90" "11" "6637605" "6637605" "subst" "4.06118E-6" "01804" "TPP1_000046" "g.6637605C>T" "" "" "" "TPP1(NM_000391.3):c.1016G>A (p.R339Q, p.(Arg339Gln)), TPP1(NM_000391.4):c.1016G>A (p.R339Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6616374C>T" "" "pathogenic" "" "0000322006" "0" "30" "11" "6637757" "6637759" "del" "0" "01804" "TPP1_000134" "g.6637757_6637759del" "" "" "" "TPP1(NM_000391.3):c.887-8_887-6del (p.(=)), TPP1(NM_000391.4):c.887-8_887-6delAAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6616526_6616528del" "" "likely benign" "" "0000322007" "0" "50" "11" "6637758" "6637759" "del" "0" "01804" "TPP1_000135" "g.6637758_6637759del" "" "" "" "TPP1(NM_000391.3):c.887-7_887-6del (p.(=)), TPP1(NM_000391.3):c.887-7_887-6delAA, TPP1(NM_000391.4):c.887-7_887-6delAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6616527_6616528del" "" "VUS" "" "0000322009" "0" "50" "11" "6638948" "6638948" "subst" "0" "01804" "TPP1_000142" "g.6638948G>T" "" "" "" "TPP1(NM_000391.3):c.289C>A (p.(His97Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6617717G>T" "" "VUS" "" "0000322013" "0" "50" "11" "6644023" "6644023" "subst" "0" "01804" "DCHS1_000014" "g.6644023G>A" "" "" "" "DCHS1(NM_003737.2):c.8884C>T (p.(Arg2962Trp)), DCHS1(NM_003737.4):c.8884C>T (p.R2962W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6622792G>A" "" "VUS" "" "0000322015" "0" "50" "11" "6644131" "6644131" "subst" "0" "01804" "DCHS1_000016" "g.6644131C>T" "" "" "" "DCHS1(NM_003737.2):c.8776G>A (p.(Ala2926Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6622900C>T" "" "VUS" "" "0000322016" "0" "50" "11" "6644172" "6644172" "subst" "0" "01804" "DCHS1_000018" "g.6644172C>T" "" "" "" "DCHS1(NM_003737.2):c.8735G>A (p.(Arg2912Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6622941C>T" "" "VUS" "" "0000322017" "0" "30" "11" "6644638" "6644638" "subst" "0.00121202" "01804" "DCHS1_000028" "g.6644638C>T" "" "" "" "DCHS1(NM_003737.2):c.8269G>A (p.(Ala2757Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6623407C>T" "" "likely benign" "" "0000322019" "0" "30" "11" "6645522" "6645522" "subst" "0.0132526" "01804" "DCHS1_000137" "g.6645522C>T" "" "" "" "DCHS1(NM_003737.2):c.7385G>A (p.(Arg2462Gln)), DCHS1(NM_003737.2):c.7388G>A (p.G2463E), DCHS1(NM_003737.4):c.7385G>A (p.R2462Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6624291C>T" "" "likely benign" "" "0000344590" "0" "90" "11" "6638559" "6638559" "subst" "1.2183E-5" "02327" "TPP1_000149" "g.6638559G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6617328G>A" "" "pathogenic" "" "0000345160" "0" "50" "11" "6630124" "6630124" "subst" "4.06062E-6" "02327" "ILK_000021" "g.6630124A>G" "" "" "" "ILK(NM_001014794.2):c.458A>G (p.(Glu153Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6608893A>G" "" "VUS" "" "0000347205" "0" "50" "11" "6636105" "6636105" "subst" "0.00012184" "02327" "TPP1_000148" "g.6636105G>A" "" "" "" "TPP1(NM_000391.3):c.1543C>T (p.(Leu515Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6614874G>A" "" "VUS" "" "0000348217" "0" "50" "11" "6638574" "6638574" "subst" "0" "02327" "TPP1_000150" "g.6638574G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6617343G>T" "" "VUS" "" "0000349419" "0" "50" "11" "6644134" "6644134" "subst" "0" "02327" "DCHS1_000072" "g.6644134T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6622903T>G" "" "VUS" "" "0000350459" "0" "50" "11" "6644059" "6644059" "subst" "0" "02327" "DCHS1_000071" "g.6644059C>G" "" "" "" "DCHS1(NM_003737.4):c.8848G>C (p.V2950L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6622828C>G" "" "VUS" "" "0000350715" "0" "50" "11" "6640011" "6640011" "subst" "2.8462E-5" "02327" "TPP1_000002" "g.6640011T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6618780T>C" "" "VUS" "" "0000350764" "0" "90" "11" "6638385" "6638385" "subst" "0.000410279" "02327" "TPP1_000022" "g.6638385C>G" "" "" "" "TPP1(NM_000391.3):c.509-1G>C (p.?), TPP1(NM_000391.4):c.509-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6617154C>G" "" "pathogenic" "" "0000437698" "3" "90" "11" "6638385" "6638385" "subst" "0.000410279" "00006" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sun 2013:23418007}" "" "" "" "Germline" "" "rs56144125" "0" "" "" "g.6617154C>G" "" "pathogenic (recessive)" "" "0000437699" "3" "50" "11" "0" "0" "" "0" "00006" "DRD4_000002" "g.?" "" "{PMID:Sun 2013:23418007}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000437700" "3" "90" "11" "6638385" "6638385" "subst" "0.000410279" "00006" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sun 2013:23418007}" "" "" "" "Germline" "" "rs56144125" "0" "" "" "g.6617154C>G" "" "pathogenic (recessive)" "" "0000437701" "3" "90" "11" "6638385" "6638385" "subst" "0.000410279" "00006" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sun 2013:23418007}" "" "" "" "Germline" "" "rs56144125" "0" "" "" "g.6617154C>G" "" "pathogenic (recessive)" "" "0000437702" "3" "50" "11" "0" "0" "" "0" "00006" "DRD4_000002" "g.?" "" "{PMID:Sun 2013:23418007}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000437703" "1" "90" "11" "6638385" "6638385" "subst" "0.000410279" "00006" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sun 2013:23418007}" "" "" "" "Germline" "" "rs56144125" "0" "" "" "g.6617154C>G" "" "pathogenic (recessive)" "" "0000437704" "2" "90" "11" "6638271" "6638271" "subst" "0.000235746" "00006" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sun 2013:23418007}" "" "" "" "Germline" "" "rs119455955" "0" "" "" "g.6617040G>A" "" "pathogenic (recessive)" "" "0000437705" "3" "50" "11" "0" "0" "" "0" "00006" "DRD4_000002" "g.?" "" "{PMID:Sun 2013:23418007}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000437706" "1" "90" "11" "6638271" "6638271" "subst" "0.000235746" "00006" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sun 2013:23418007}" "" "" "" "Germline" "" "rs119455955" "0" "" "" "g.6617040G>A" "" "pathogenic (recessive)" "" "0000437707" "2" "90" "11" "6636673" "6636673" "subst" "2.03039E-5" "00006" "TPP1_000062" "g.6636673C>G" "" "{PMID:Sun 2013:23418007}" "" "" "" "Germline" "" "rs121908200" "0" "" "" "g.6615442C>G" "" "pathogenic (recessive)" "" "0000437708" "3" "50" "11" "0" "0" "" "0" "00006" "DRD4_000002" "g.?" "" "{PMID:Sun 2013:23418007}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000437709" "1" "90" "11" "6638385" "6638385" "subst" "0.000410279" "00006" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sun 2013:23418007}" "" "" "" "Germline" "" "rs56144125" "0" "" "" "g.6617154C>G" "" "pathogenic (recessive)" "" "0000437710" "2" "90" "11" "6638271" "6638271" "subst" "0.000235746" "00006" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sun 2013:23418007}" "" "" "" "Germline" "" "rs119455955" "0" "" "" "g.6617040G>A" "" "pathogenic (recessive)" "" "0000437711" "1" "90" "11" "6638385" "6638385" "subst" "0.000410279" "00006" "TPP1_000022" "g.6638385C>G" "" "{PMID:Sun 2013:23418007}" "" "" "" "Germline" "" "rs56144125" "0" "" "" "g.6617154C>G" "" "pathogenic (recessive)" "" "0000437712" "2" "90" "11" "6638271" "6638271" "subst" "0.000235746" "00006" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sun 2013:23418007}" "" "" "" "Germline" "" "rs119455955" "0" "" "" "g.6617040G>A" "" "pathogenic (recessive)" "" "0000437713" "1" "70" "11" "6640011" "6640011" "subst" "2.8462E-5" "00006" "TPP1_000002" "g.6640011T>C" "" "{PMID:Sun 2013:23418007}" "" "" "" "Germline" "" "" "0" "" "" "g.6618780T>C" "" "likely pathogenic (recessive)" "" "0000437714" "2" "90" "11" "6638271" "6638271" "subst" "0.000235746" "00006" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sun 2013:23418007}" "" "" "" "Germline" "" "rs119455955" "0" "" "" "g.6617040G>A" "" "pathogenic (recessive)" "" "0000437715" "1" "70" "11" "6640011" "6640011" "subst" "2.8462E-5" "00006" "TPP1_000002" "g.6640011T>C" "" "{PMID:Sun 2013:23418007}" "" "" "" "Germline" "" "" "0" "" "" "g.6618780T>C" "" "likely pathogenic (recessive)" "" "0000437716" "2" "90" "11" "6638271" "6638271" "subst" "0.000235746" "00006" "TPP1_000043" "g.6638271G>A" "" "{PMID:Sun 2013:23418007}" "" "" "" "Germline" "" "rs119455955" "0" "" "" "g.6617040G>A" "" "pathogenic (recessive)" "" "0000437717" "1" "90" "11" "6638271" "6638271" "subst" "0.000235746" "00006" "TPP1_000043" 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"g.6615238G>A" "" "likely pathogenic (recessive)" "" "0000437722" "2" "90" "11" "6638926" "6638926" "subst" "4.06088E-6" "00006" "TPP1_000083" "g.6638926A>T" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "" "0" "" "" "g.6617695A>T" "" "pathogenic (recessive)" "" "0000437724" "0" "10" "11" "6638174" "6638174" "subst" "0.107489" "00006" "TPP1_000123" "g.6638174A>G" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "rs1800710" "0" "" "" "g.6616943A>G" "" "benign" "" "0000437725" "1" "70" "11" "6636469" "6636469" "subst" "0" "00006" "TPP1_000036" "g.6636469G>A" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "" "0" "" "" "g.6615238G>A" "" "likely pathogenic (recessive)" "" "0000437726" "2" "90" "11" "6637951" "6637951" "subst" "1.62441E-5" "00006" "TPP1_000051" "g.6637951T>A" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "rs763162812" "0" "" "" "g.6616720T>A" "" "pathogenic (recessive)" "" "0000437727" "3" "90" "11" "6638926" "6638926" "subst" "4.06088E-6" "00006" "TPP1_000083" "g.6638926A>T" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "" "0" "" "" "g.6617695A>T" "" "pathogenic (recessive)" "" "0000437728" "3" "10" "11" "6638174" "6638174" "subst" "0.107489" "00006" "TPP1_000123" "g.6638174A>G" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "rs1800710" "0" "" "" "g.6616943A>G" "" "benign" "" "0000437729" "3" "90" "11" "6637951" "6637951" "subst" "1.62441E-5" "00006" "TPP1_000051" "g.6637951T>A" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "rs763162812" "0" "" "" "g.6616720T>A" "" "pathogenic (recessive)" "" "0000437730" "1" "90" "11" "6638271" "6638271" "subst" "0.000235746" "00006" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "rs119455955" "0" "" "" "g.6617040G>A" "" "pathogenic (recessive)" "" "0000437731" "2" "90" "11" "6637951" "6637951" "subst" "1.62441E-5" "00006" "TPP1_000051" "g.6637951T>A" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "rs763162812" "0" "" "" "g.6616720T>A" "" "pathogenic (recessive)" "" "0000437732" "3" "90" "11" "6637951" "6637951" "subst" "1.62441E-5" "00006" "TPP1_000051" "g.6637951T>A" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "rs763162812" "0" "" "" "g.6616720T>A" "" "pathogenic (recessive)" "" "0000437733" "3" "90" "11" "6638271" "6638271" "subst" "0.000235746" "00006" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "rs119455955" "0" "" "" "g.6617040G>A" "" "pathogenic (recessive)" "" "0000437734" "1" "90" "11" "6638385" "6638385" "subst" "0.000410279" "00006" "TPP1_000022" "g.6638385C>G" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "rs56144125" "0" "" "" "g.6617154C>G" "" "pathogenic (recessive)" "" "0000437735" "2" "90" "11" "6637951" "6637951" "subst" "1.62441E-5" "00006" "TPP1_000051" "g.6637951T>A" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "rs763162812" "0" "" "" "g.6616720T>A" "" "pathogenic (recessive)" "" "0000437736" "1" "10" "11" 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"rs755445790" "0" "" "" "g.6616513T>C" "" "VUS" "" "0000437741" "2" "90" "11" "6640040" "6640040" "subst" "1.21895E-5" "00006" "TPP1_000065" "g.6640040G>A" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "rs759080581" "0" "" "" "g.6618809G>A" "" "pathogenic (recessive)" "" "0000437742" "1" "50" "11" "6637744" "6637744" "subst" "0" "00006" "TPP1_000029" "g.6637744T>C" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "rs755445790" "0" "" "" "g.6616513T>C" "" "VUS" "" "0000437743" "2" "90" "11" "6640040" "6640040" "subst" "1.21895E-5" "00006" "TPP1_000065" "g.6640040G>A" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "rs759080581" "0" "" "" "g.6618809G>A" "" "pathogenic (recessive)" "" "0000437744" "1" "50" "11" "6637744" "6637744" "subst" "0" "00011" "TPP1_000029" "g.6637744T>C" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "rs755445790" "0" "" "" "g.6616513T>C" "" "VUS" "" "0000437745" "2" "90" "11" "6640040" "6640040" "subst" "1.21895E-5" "00011" "TPP1_000065" "g.6640040G>A" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "rs759080581" "0" "" "" "g.6618809G>A" "" "pathogenic (recessive)" "" "0000437746" "0" "10" "11" "6636549" "6636549" "subst" "0" "00011" "TPP1_000161" "g.6636549T>V" "" "{PMID:Kohan 2013:23266810}" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000437747" "0" "30" "11" "6640423" "6640423" "subst" "0" "00011" "TPP1_000015" "g.6640423T>C" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "" "0" "" "" "g.6619192T>C" "" "likely benign" "" "0000437748" "1" "90" "11" "6637273" "6637274" "del" "0" "00011" "TPP1_000164" "g.6637273_6637274del" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "" "0" "" "" "g.6616042_6616043del" "" "pathogenic (recessive)" "" "0000437749" "2" "90" "11" "6637951" "6637951" "subst" "1.62441E-5" "00011" "TPP1_000051" "g.6637951T>A" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "rs763162812" "0" "" "" "g.6616720T>A" "" "pathogenic (recessive)" "" "0000437750" "0" "10" "11" "6638506" "6638506" "subst" "0.560529" "00011" "TPP1_000021" "g.6638506A>T" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "rs1800738" "0" "" "" "g.6617275A>T" "" "benign" "" "0000437751" "0" "10" "11" "6638506" "6638506" "subst" "0.560529" "00011" "TPP1_000021" "g.6638506A>T" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "rs1800738" "0" "" "" "g.6617275A>T" "" "benign" "" "0000437752" "0" "10" "11" "6637518" "6637518" "subst" "0.997486" "00011" "TPP1_000167" "g.6637518A>G" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "rs7943955" "0" "" "" "g.6616287A>G" "" "benign" "" "0000437753" "1" "50" "11" "6637744" "6637744" "subst" "0" "00011" "TPP1_000029" "g.6637744T>C" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "rs755445790" "0" "" "" "g.6616513T>C" "" "VUS" "" "0000437754" "2" "70" "11" "6636403" "6636403" "subst" "1.6243E-5" "00011" "TPP1_000100" "g.6636403G>A" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "rs121908202" "0" "" "" "g.6615172G>A" "" "likely pathogenic (recessive)" "" "0000437755" "1" "50" "11" "6637744" "6637744" "subst" "0" "00011" "TPP1_000029" "g.6637744T>C" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "rs755445790" "0" "" "" "g.6616513T>C" "" "VUS" "" "0000437756" "2" "90" "11" "6637951" "6637951" "subst" "1.62441E-5" "00011" "TPP1_000051" "g.6637951T>A" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "rs763162812" "0" "" "" "g.6616720T>A" "" "pathogenic (recessive)" "" "0000437757" "1" "70" "11" "6637573" "6637573" "subst" "0" "00011" "TPP1_000130" "g.6637573G>A" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "" "0" "" "" "g.6616342G>A" "" "likely pathogenic (recessive)" "" "0000437758" "2" "70" "11" "6635866" "6635866" "subst" "0" "00011" "TPP1_000154" "g.6635866C>G" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "" "0" "" "" "g.6614635C>G" "" "likely pathogenic (recessive)" "" "0000437759" "0" "10" "11" "6638506" "6638506" "subst" "0.560529" "00011" "TPP1_000021" "g.6638506A>T" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "rs1800738" "0" "" "" "g.6617275A>T" "" "benign" "" "0000437760" "0" "10" "11" "6637504" "6637504" "subst" "0.187409" "00011" "TPP1_000166" "g.6637504G>A" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "rs2072651" "0" "" "" "g.6616273G>A" "" "benign" "" "0000437761" "0" "10" "11" "6638174" "6638174" "subst" "0.107489" "00011" "TPP1_000123" "g.6638174A>G" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "rs1800710" "0" "" "" "g.6616943A>G" "" "benign" "" "0000437762" "0" "10" "11" "6636106" "6636106" "subst" "0.19033" "00011" "TPP1_000004" "g.6636106T>A" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "rs1128396" "0" "" "" "g.6614875T>A" "" "benign" "" "0000437763" "1" "70" "11" "6637573" "6637573" "subst" "0" "00011" "TPP1_000130" "g.6637573G>A" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "" "0" "" "" "g.6616342G>A" "" "likely pathogenic (recessive)" "" "0000437764" "2" "70" "11" "6635866" "6635866" "subst" "0" "00011" "TPP1_000154" "g.6635866C>G" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "" "0" "" "" "g.6614635C>G" "" "likely pathogenic (recessive)" "" "0000437765" "1" "90" "11" "6640422" "6640422" "subst" "4.06339E-6" "00011" "TPP1_000014" "g.6640422C>G" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "rs746085696" "0" "" "" "g.6619191C>G" "" "pathogenic (recessive)" "" "0000437766" "2" "70" "11" "6636469" "6636469" "subst" "0" "00011" "TPP1_000159" "g.6636469G>T" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "" "0" "" "" "g.6615238G>T" "" "likely pathogenic (recessive)" "" "0000437767" "0" "10" "11" "6636411" "6636411" "subst" "4.87306E-5" "00011" "TPP1_000157" "g.6636411G>A" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "rs773086052" "0" "" "" "g.6615180G>A" "" "benign" "" "0000437768" "0" "10" "11" "6638506" "6638506" "subst" "0.560529" "00011" "TPP1_000021" "g.6638506A>T" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "rs1800738" "0" "" "" "g.6617275A>T" "" "benign" "" "0000437769" "1" "90" "11" "6640422" "6640422" "subst" "4.06339E-6" "00011" "TPP1_000014" "g.6640422C>G" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "rs746085696" "0" "" "" "g.6619191C>G" "" "pathogenic (recessive)" "" "0000437770" "2" "70" "11" "6636469" "6636469" "subst" "0" "00011" "TPP1_000159" "g.6636469G>T" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "" "0" "" "" "g.6615238G>T" "" "likely pathogenic (recessive)" "" "0000437771" "1" "10" "11" "6636411" "6636411" "subst" "4.87306E-5" "00011" "TPP1_000157" "g.6636411G>A" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "rs773086052" "0" "" "" "g.6615180G>A" "" "benign" "" "0000437772" "1" "10" "11" "6636411" "6636411" "subst" "4.87306E-5" "00011" "TPP1_000157" "g.6636411G>A" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "rs773086052" "0" "" "" "g.6615180G>A" "" "benign" "" "0000437773" "1" "50" "11" "6637744" "6637744" "subst" "0" "00011" "TPP1_000029" "g.6637744T>C" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "rs755445790" "0" "" "" "g.6616513T>C" "" "VUS" "" "0000437774" "2" "90" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "rs119455955" "0" "" "" "g.6617040G>A" "" "pathogenic (recessive)" "" "0000437775" "1" "50" "11" "6637744" "6637744" "subst" "0" "00011" "TPP1_000029" "g.6637744T>C" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "rs755445790" "0" "" "" "g.6616513T>C" "" "VUS" "" "0000437776" "2" "90" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "rs119455955" "0" "" "" "g.6617040G>A" "" "pathogenic (recessive)" "" "0000437777" "1" "90" "11" "6636487" "6636487" "subst" "8.12123E-6" "00011" "TPP1_000048" "g.6636487C>T" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "rs119455956" "0" "" "" "g.6615256C>T" "" "pathogenic (recessive)" "" "0000437778" "2" "70" "11" "6636403" "6636403" "subst" "1.6243E-5" "00011" "TPP1_000100" "g.6636403G>A" "" "{PMID:Kohan 2013:23266810}" "" "" "" "Germline" "" "rs121908202" "0" "" "" "g.6615172G>A" "" "likely pathogenic (recessive)" "" "0000437779" "3" "90" "11" "6637307" "6637307" "subst" "0" "00011" "TPP1_000165" "g.6637307T>A" "" "A. Simonati pers comm" "" "" "" "Germline" "" "" "0" "" "" "g.6616076T>A" "" "pathogenic (recessive)" "" "0000437780" "1" "50" "11" "0" "0" "" "0" "00011" "DRD4_000002" "g.?" "" "{PMID:Shen 2013:23768618}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000437781" "2" "70" "11" "6637954" "6637954" "subst" "0" "00011" "TPP1_000174" "g.6637954A>G" "" "{PMID:Shen 2013:23768618}" "" "" "" "Germline" "" "" "0" "" "" "g.6616723A>G" "" "likely pathogenic (recessive)" "" "0000437782" "1" "90" "11" "6638901" "6638901" "dup" "0" "00011" "TPP1_000176" "g.6638901dup" "" "R. Williams pers comm" "" "" "" "Germline" "" "" "0" "" "" "g.6617670dup" "" "pathogenic (recessive)" "" "0000437783" "2" "90" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "R. Williams pers comm" "" "" "" "Germline" "" "rs119455955" "0" "" "" "g.6617040G>A" "" "pathogenic (recessive)" "" "0000437784" "1" "50" "11" "6636699" "6636700" "ins" "0" "00011" "TPP1_000151" "g.6636699_6636700insN[6]" "" "R. Williams pers comm" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000437785" "2" "90" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "R. Williams pers comm" "" "" "" "Germline" "" "rs56144125" "0" "" "" "g.6617154C>G" "" "pathogenic (recessive)" "" "0000437786" "3" "70" "11" "6640004" "6640004" "subst" "0" "00011" "TPP1_000177" "g.6640004C>G" "" "R. Williams pers comm" "" "" "" "Germline" "" "" "0" "" "" "g.6618773C>G" "" "likely pathogenic (recessive)" "" "0000437787" "1" "90" "11" "6636181" "6636181" "del" "0" "00011" "TPP1_000156" "g.6636181del" "" "R. Williams pers comm" "" "" "" "Germline" "" "" "0" "" "" "g.6614950del" "" "pathogenic (recessive)" "" "0000437788" "2" "90" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "R. Williams pers comm" "" "" "" "Germline" "" "rs56144125" "0" "" "" "g.6617154C>G" "" "pathogenic (recessive)" "" "0000437789" "1" "70" "11" "6637573" "6637573" "subst" "0" "00011" "TPP1_000130" "g.6637573G>A" "" "R. Williams pers comm" "" "" "" "Germline" "" "" "0" "" "" "g.6616342G>A" "" "likely pathogenic (recessive)" "" "0000437790" "2" "90" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "R. Williams pers comm" "" "" "" "Germline" "" "rs56144125" "0" "" "" "g.6617154C>G" "" "pathogenic (recessive)" "" "0000437791" "1" "90" "11" "6636487" "6636487" "subst" "8.12123E-6" "00011" "TPP1_000048" "g.6636487C>T" "" "{PMID:di Giacopo 2015:26143525}" "" "" "" "Germline" "" "rs119455956" "0" "" "" "g.6615256C>T" "" "pathogenic (recessive)" "" "0000437792" "2" "90" "11" "6637988" "6637988" "subst" "0" "00011" "TPP1_000060" "g.6637988G>A" "" "{PMID:di Giacopo 2015:26143525}" "" "" "" "Germline" "" "" "0" "" "" "g.6616757G>A" "" "pathogenic (recessive)" "" "0000437793" "1" "90" "11" "6636487" "6636487" "subst" "8.12123E-6" "00011" "TPP1_000048" "g.6636487C>T" "" "{PMID:di Giacopo 2015:26143525}" "" "" "" "Germline" "" "rs119455956" "0" "" "" "g.6615256C>T" "" "pathogenic (recessive)" "" "0000437794" "2" "90" "11" "6637988" "6637988" "subst" "0" "00011" "TPP1_000060" "g.6637988G>A" "" "{PMID:di Giacopo 2015:26143525}" "" "" "" "Germline" "" "" "0" "" "" "g.6616757G>A" "" "pathogenic (recessive)" "" "0000437795" "1" "90" "11" "6636487" "6636487" "subst" "8.12123E-6" "00011" "TPP1_000048" "g.6636487C>T" "" "{PMID:di Giacopo 2015:26143525}" "" "" "" "Germline" "" "rs119455956" "0" "" "" "g.6615256C>T" "" "pathogenic (recessive)" "" "0000437796" "2" "90" "11" "6637988" "6637988" "subst" "0" "00011" "TPP1_000060" "g.6637988G>A" "" "{PMID:di Giacopo 2015:26143525}" "" "" "" "Germline" "" "" "0" "" "" "g.6616757G>A" "" "pathogenic (recessive)" "" "0000437797" "3" "90" "11" "6640426" "6640426" "subst" "0" "00011" "TPP1_000179" "g.6640426C>T" "" "{PMID:Saini 2016:27343025}" "" "" "" "Germline" "" "" "0" "" "" "g.6619195C>T" "" "pathogenic (recessive)" "" "0000437798" "1" "90" "11" "6636096" "6636096" "subst" "0" "00011" "TPP1_000155" "g.6636096C>A" "" "{PMID:Yu 2015:26032578}" "" "" "" "Germline" "" "" "0" "" "" "g.6614865C>A" "" "pathogenic (recessive)" "" "0000437799" "2" "70" "11" "6635856" "6635856" "subst" "0" "00011" "TPP1_000153" "g.6635856G>T" "" "{PMID:Yu 2015:26032578}" "" "" "" "Germline" "" "" "0" "" "" "g.6614625G>T" "" "likely pathogenic (recessive)" "" "0000437800" "1" "70" "11" "6636713" "6636713" "subst" "0" "00011" "TPP1_000163" "g.6636713C>A" "" "Carrie Fagerstrom, pers communication 2015" "" "" "" "Germline" "" "" "0" "" "" "g.6615482C>A" "" "likely pathogenic (recessive)" "" "0000437801" "2" "90" "11" "6635843" "6635843" "subst" "0" "00011" "TPP1_000152" "g.6635843C>T" "" "Carrie Fagerstrom, pers communication 2015" "" "" "" "Germline" "" "" "0" "" "" "g.6614612C>T" "" "pathogenic (recessive)" "" "0000437802" "1" "90" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "{PMID:Dy 2015:26224725}" "" "" "" "Germline" "" "rs56144125" "0" "" "" "g.6617154C>G" "" "pathogenic (recessive)" "" "0000437803" "2" "90" "11" "6637592" "6637592" "subst" "0" "00011" "TPP1_000171" "g.6637592C>G" "" "{PMID:Dy 2015:26224725}" "" "" "" "Germline" "" "rs886037833" "0" "" "" "g.6616361C>G" "" "pathogenic (recessive)" "" "0000437804" "1" "90" "11" "6636487" "6636487" "subst" "8.12123E-6" "00011" "TPP1_000048" "g.6636487C>T" "" "{PMID:Kara 2016:27217339}" "" "" "" "Germline" "" "rs119455956" "0" "" "" "g.6615256C>T" "" "pathogenic (recessive)" "" "0000437805" "2" "90" "11" "6636123" "6636123" "subst" "1.21835E-5" "00011" "TPP1_000063" "g.6636123G>A" "" "{PMID:Kara 2016:27217339}" "" "" "" "Germline" "" "" "0" "" "" "g.6614892G>A" "" "pathogenic (recessive)" "" "0000437806" "3" "70" "11" "6637734" "6637734" "subst" "0" "00011" "TPP1_000173" "g.6637734C>T" "" "{PMID:Reid 2016:27604308}" "" "" "ALDOB homozygous for p.(Arg60*)" "Germline" "" "" "0" "" "" "g.6616503C>T" "" "likely pathogenic (recessive)" "" "0000437807" "3" "70" "11" "6637569" "6637569" "subst" "0" "00011" "TPP1_000169" "g.6637569C>A" "" "pers comm from relative" "" "" "" "Germline" "" "" "0" "" "" "g.6616338C>A" "" "likely pathogenic (recessive)" "" "0000437808" "3" "70" "11" "6636204" "6636204" "subst" "0" "00011" "TPP1_000074" "g.6636204C>G" "" "{PMID:Kousi 2009:19201763}" "" "" "" "Germline" "" "rs121908208" "0" "" "" "g.6614973C>G" "" "likely pathogenic (recessive)" "" "0000437809" "3" "90" "11" "6638277" "6638277" "subst" "1.21959E-5" "00011" "TPP1_000041" "g.6638277G>A" "" "{PMID:Bhavsar 2016:27518768}" "" "" "" "Germline" "" "rs28940573" "0" "" "" "g.6617046G>A" "" "pathogenic (recessive)" "" "0000437810" "3" "90" "11" "6638277" "6638277" "subst" "1.21959E-5" "00011" "TPP1_000041" "g.6638277G>A" "" "{PMID:Bhavsar 2016:27518768}" "" "" "" "Germline" "" "rs28940573" "0" "" "" "g.6617046G>A" "" "pathogenic (recessive)" "" "0000437811" "3" "70" "11" "6636451" "6636451" "subst" "0" "00011" "TPP1_000158" "g.6636451T>G" "" "{PMID:Bhavsar 2016:27518768}" "" "" "" "Germline" "" "rs864309505" "0" "" "" "g.6615220T>G" "" "likely pathogenic (recessive)" "" "0000437812" "3" "70" "11" "6636451" "6636451" "subst" "0" "00011" "TPP1_000158" "g.6636451T>G" "" "{PMID:Bhavsar 2016:27518768}" "" "" "" "Germline" "" "rs864309505" "0" "" "" "g.6615220T>G" "" "likely pathogenic (recessive)" "" "0000437813" "3" "90" "11" "6636101" "6636102" "del" "0" "00011" "TPP1_000093" "g.6636101_6636102del" "" "{PMID:Bhavsar 2016:27518768}" "" "" "" "Germline" "" "" "0" "" "" "g.6614870_6614871del" "" "pathogenic (recessive)" "" "0000437814" "3" "90" "11" "6638277" "6638277" "subst" "1.21959E-5" "00011" "TPP1_000041" "g.6638277G>A" "" "{PMID:Bhavsar 2016:27518768}" "" "" "" "Germline" "" "rs28940573" "0" "" "" "g.6617046G>A" "" "pathogenic (recessive)" "" "0000437815" "1" "90" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "Miriam Nickel, Hamburg" "" "" "" "Germline" "" "rs119455955" "0" "" "" "g.6617040G>A" "" "pathogenic (recessive)" "" "0000437816" "2" "90" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "Miriam Nickel, Hamburg" "" "" "" "Germline" "" "rs56144125" "0" "" "" "g.6617154C>G" "" "pathogenic (recessive)" "" "0000437817" "1" "90" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "" "" "" "" "Germline" "" "rs119455955" "0" "" "" "g.6617040G>A" "" "pathogenic (recessive)" "" "0000437818" "2" "70" "11" "6640478" "6640478" "subst" "0" "00011" "TPP1_000180" "g.6640478A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6619247A>G" "" "likely pathogenic (recessive)" "" "0000437819" "1" "90" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "" "" "" "" "Germline" "" "rs119455955" "0" "" "" "g.6617040G>A" "" "pathogenic (recessive)" "" "0000437820" "2" "50" "11" "6637744" "6637744" "subst" "0" "00011" "TPP1_000029" "g.6637744T>C" "" "" "" "" "" "Germline" "" "rs755445790" "0" "" "" "g.6616513T>C" "" "VUS" "" "0000437821" "1" "50" "11" "6637572" "6637572" "subst" "2.84405E-5" "00011" "TPP1_000170" "g.6637572C>T" "" "" "" "" "" "Germline" "" "rs199866669" "0" "" "" "g.6616341C>T" "" "VUS" "" "0000437822" "2" "90" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "" "" "" "" "Germline" "" "rs56144125" "0" "" "" "g.6617154C>G" "" "pathogenic (recessive)" "" "0000437823" "1" "90" "11" "6638857" "6638857" "subst" "0" "00011" "TPP1_000039" "g.6638857C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6617626C>T" "" "pathogenic (recessive)" "" "0000437824" "2" "90" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "" "" "" "" "Germline" "" "rs56144125" "0" "" "" "g.6617154C>G" "" "pathogenic (recessive)" "" "0000437825" "1" "70" "11" "6637606" "6637606" "subst" "4.06154E-6" "00011" "TPP1_000047" "g.6637606G>A" "" "" "" "" "" "Germline" "" "rs750428882" "0" "" "" "g.6616375G>A" "" "likely pathogenic (recessive)" "" "0000437826" "2" "70" "11" "6638047" "6638047" "subst" "0" "00011" "TPP1_000175" "g.6638047A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6616816A>G" "" "likely pathogenic (recessive)" "" "0000437827" "1" "90" "11" "6638271" "6638271" "subst" "0.000235746" "00011" "TPP1_000043" "g.6638271G>A" "" "" "" "" "" "Germline" "" "rs119455955" "0" "" "" "g.6617040G>A" "" "pathogenic (recessive)" "" "0000437828" "2" "70" "11" "6636678" "6636678" "subst" "0" "00011" "TPP1_000162" "g.6636678A>T" "" "" "" "" "" "Germline" "" "rs1054736404" "0" "" "" "g.6615447A>T" "" "likely pathogenic (recessive)" "" "0000437829" "1" "90" "11" "6637307" "6637307" "subst" "0" "00011" "TPP1_000165" "g.6637307T>A" "" "Lina Tavera, Columbia" "" "" "" "Germline" "" "" "0" "" "" "g.6616076T>A" "" "pathogenic (recessive)" "" "0000437830" "2" "50" "11" "6637744" "6637744" "subst" "0" "00011" "TPP1_000029" "g.6637744T>C" "" "Lina Tavera, Columbia" "" "" "" "Germline" "" "rs755445790" "0" "" "" "g.6616513T>C" "" "VUS" "" "0000437831" "1" "70" "11" "6637606" "6637606" "subst" "4.06154E-6" "00011" "TPP1_000047" "g.6637606G>A" "" "Emily de los Reyes, USA" "" "" "" "Germline" "" "rs750428882" "0" "" "" "g.6616375G>A" "" "likely pathogenic (recessive)" "" "0000437832" "2" "50" "11" "6637662" "6637662" "subst" "8.12896E-6" "00011" "TPP1_000172" "g.6637662A>C" "" "Emily de los Reyes, USA" "" "" "" "Germline" "" "" "0" "" "" "g.6616431A>C" "" "VUS" "" "0000437833" "1" "90" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "" "" "" "" "Germline" "" "rs56144125" "0" "" "" "g.6617154C>G" "" "pathogenic (recessive)" "" "0000437834" "2" "50" "11" "6640097" "6640097" "subst" "0" "00011" "TPP1_000178" "g.6640097G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6618866G>C" "" "VUS" "" "0000437835" "1" "50" "11" "0" "0" "" "0" "00011" "DRD4_000002" "g.?" "" "Raymond Wang, USA" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000437836" "2" "90" "11" "6638559" "6638559" "subst" "1.2183E-5" "00011" "TPP1_000149" "g.6638559G>A" "" "Raymond Wang, USA" "" "" "" "Germline" "" "" "0" "" "" "g.6617328G>A" "" "pathogenic (recessive)" "" "0000437837" "1" "70" "11" "6636476" "6636476" "subst" "0" "00011" "TPP1_000160" "g.6636476C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6615245C>A" "" "likely pathogenic (recessive)" "" "0000437838" "2" "70" "11" "6636476" "6636476" "subst" "0" "00011" "TPP1_000160" "g.6636476C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6615245C>A" "" "likely pathogenic (recessive)" "" "0000437839" "1" "90" "11" "6638385" "6638385" "subst" "0.000410279" "00011" "TPP1_000022" "g.6638385C>G" "" "" "" "" "" "Germline" "" "rs56144125" "0" "" "" "g.6617154C>G" "" "pathogenic (recessive)" "" "0000437840" "2" "70" "11" "6637563" "6637563" "subst" "1.62566E-5" "00011" "TPP1_000168" "g.6637563G>T" "" "" "" "" "" "Germline" "" "rs145966505" "0" "" "" "g.6616332G>T" "" "likely pathogenic (recessive)" "" "0000437841" "1" "90" "11" "6640422" "6640422" "subst" "4.06339E-6" "00011" "TPP1_000014" "g.6640422C>G" "" "Paul Gissen, UK" "" "" "" "Germline" "" "rs746085696" "0" "" "" "g.6619191C>G" "" "pathogenic (recessive)" "" "0000437842" "2" "90" "11" "6636487" "6636487" "subst" "8.12123E-6" "00011" "TPP1_000048" "g.6636487C>T" "" "Paul Gissen, UK" "" "" "" "Germline" "" "rs119455956" "0" "" "" "g.6615256C>T" "" "pathogenic (recessive)" "" "0000545106" "0" "50" "11" "6629280" "6629280" "subst" "8.12308E-6" "01943" "RRP8_000001" "g.6629280G>A" "" "" "" "ILK(NM_001014795.2):c.94G>A (p.D32N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6608050G>A" "" "VUS" "" "0000545120" "0" "10" "11" "6630033" "6630033" "del" "0" "01943" "TAF10_000001" "g.6630033del" "" "" "" "ILK(NM_001014795.3):c.448+13delC, ILK(NM_004517.2):c.448+13delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000545121" "0" "30" "11" "6630033" "6630033" "del" "0" "02325" "TAF10_000001" "g.6630033del" "" "" "" "ILK(NM_001014795.3):c.448+13delC, ILK(NM_004517.2):c.448+13delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000545122" "0" "50" "11" "6630124" "6630124" "subst" "4.06062E-6" "01804" "ILK_000021" "g.6630124A>G" "" "" "" "ILK(NM_001014794.2):c.458A>G (p.(Glu153Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6608893A>G" "" "VUS" "" "0000545123" "0" "30" "11" "6630184" "6630184" "subst" "2.8425E-5" "01804" "TAF10_000002" "g.6630184C>T" "" "" "" "ILK(NM_001014794.2):c.518C>T (p.(Thr173Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6608953C>T" "" "likely benign" "" "0000545124" "0" "50" "11" "6630187" "6630187" "subst" "2.8425E-5" "02325" "TAF10_000003" "g.6630187G>A" "" "" "" "ILK(NM_001014795.3):c.521G>A (p.R174H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6608956G>A" "" "VUS" "" "0000545125" "0" "50" "11" "6630320" "6630320" "subst" "2.84245E-5" "02326" "ILK_000007" "g.6630320A>C" "" "" "" "ILK(NM_001014795.3):c.551A>C (p.K184T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6609089A>C" "" "VUS" "" "0000545126" "0" "50" "11" "6630364" "6630364" "subst" "0" "02326" "TAF10_000004" "g.6630364C>T" "" "" "" "ILK(NM_001014795.3):c.595C>T (p.L199F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6609133C>T" "" "VUS" "" "0000545127" "0" "10" "11" "6630410" "6630410" "subst" "0.211286" "01943" "TAF10_000005" "g.6630410T>C" "" "" "" "ILK(NM_004517.2):c.618+23T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6609179T>C" "" "benign" "" "0000545128" "0" "30" "11" "6630542" "6630542" "subst" "0.000930214" "01943" "ILK_000001" "g.6630542C>T" "" "" "" "ILK(NM_001014795.3):c.631C>T (p.R211C), ILK(NM_004517.2):c.631C>T (p.R211C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6609311C>T" "" "likely benign" "" "0000545129" "0" "50" "11" "6630632" "6630632" "subst" "2.03156E-5" "02325" "TAF10_000006" "g.6630632C>T" "" "" "" "ILK(NM_001014795.3):c.721C>T (p.R241W), ILK(NM_004517.2):c.721C>T (p.R241W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6609401C>T" "" "VUS" "" "0000545130" "0" "50" "11" "6630632" "6630632" "subst" "2.03156E-5" "02326" "TAF10_000006" "g.6630632C>T" "" "" "" "ILK(NM_001014795.3):c.721C>T (p.R241W), ILK(NM_004517.2):c.721C>T (p.R241W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6609401C>T" "" "VUS" "" "0000545131" "0" "50" "11" "6630832" "6630832" "subst" "4.06085E-6" "02326" "TAF10_000007" "g.6630832C>T" "" "" "" "ILK(NM_001014795.3):c.818C>T (p.P273L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6609601C>T" "" "VUS" "" "0000545132" "0" "10" "11" "6630943" "6630943" "subst" "0.000422304" "02326" "TAF10_000008" "g.6630943G>A" "" "" "" "ILK(NM_001014795.3):c.857-12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6609712G>A" "" "benign" "" "0000545133" "0" "30" "11" "6631060" "6631060" "subst" "8.93372E-5" "01943" "TAF10_000009" "g.6631060A>G" "" "" "" "ILK(NM_001014795.2):c.962A>G (p.N321S), ILK(NM_001014795.3):c.962A>G (p.N321S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6609829A>G" "" "likely benign" "" "0000545134" "0" "50" "11" "6631060" "6631060" "subst" "8.93372E-5" "02326" "TAF10_000009" "g.6631060A>G" "" "" "" "ILK(NM_001014795.2):c.962A>G (p.N321S), ILK(NM_001014795.3):c.962A>G (p.N321S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6609829A>G" "" "VUS" "" "0000545135" "0" "30" "11" "6631234" "6631234" "subst" "0.000105623" "01943" "TAF10_000010" "g.6631234G>A" "" "" "" "ILK(NM_001014795.3):c.1046G>A (p.R349H), ILK(NM_004517.2):c.1046G>A (p.R349H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6610003G>A" "" "likely benign" "" "0000545136" "0" "50" "11" "6631234" "6631234" "subst" "0.000105623" "02325" "TAF10_000010" "g.6631234G>A" "" "" "" "ILK(NM_001014795.3):c.1046G>A (p.R349H), ILK(NM_004517.2):c.1046G>A (p.R349H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6610003G>A" "" "VUS" "" "0000545137" "0" "30" "11" "6631369" "6631369" "subst" "4.87322E-5" "02326" "ILK_000019" "g.6631369A>C" "" "" "" "ILK(NM_001014795.3):c.1079-10A>C, ILK(NM_004517.2):c.1079-10A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6610138A>C" "" "likely benign" "" "0000545141" "0" "30" "11" "6633350" "6633350" "subst" "0" "01804" "TAF10_000011" "g.6633350G>A" "" "" "" "TAF10(NM_006284.3):c.71C>T (p.(Ala24Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6612119G>A" "" "likely benign" "" "0000545148" "0" "30" "11" "6635926" "6635926" "subst" "0.000113705" "01943" "TAF10_000012" "g.6635926G>A" "" "" "" "TPP1(NM_000391.3):c.1552-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6614695G>A" "" "likely benign" "" "0000545149" "0" "30" "11" "6636105" "6636105" "subst" "0.00012184" "01804" "TPP1_000148" "g.6636105G>A" "" "" "" "TPP1(NM_000391.3):c.1543C>T (p.(Leu515Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6614874G>A" "" "likely benign" "" "0000545151" "0" "50" "11" "6636168" "6636168" "subst" "0" "02325" "TAF10_000014" "g.6636168G>A" "" "" "" "TPP1(NM_000391.4):c.1480C>T (p.L494F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6614937G>A" "" "VUS" "" "0000545152" "0" "30" "11" "6636228" "6636228" "subst" "8.12183E-6" "01943" "TAF10_000015" "g.6636228A>G" "" "" "" "TPP1(NM_000391.3):c.1426-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6614997A>G" "" "likely benign" "" "0000545153" "0" "10" "11" "6636286" "6636286" "subst" "0" "02326" "TPP1_000117" "g.6636286T>C" "" "" "" "TPP1(NM_000391.4):c.1426-64A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6615055T>C" "" "benign" "" "0000545154" "0" "70" "11" "6636430" "6636430" "subst" "4.06068E-6" "02327" "TPP1_000113" "g.6636430A>C" "" "" "" "TPP1(NM_000391.3):c.1397T>G (p.V466G), TPP1(NM_000391.4):c.1397T>G (p.V466G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6615199A>C" "" "likely pathogenic" "" "0000545156" "0" "50" "11" "6636499" "6636499" "subst" "5.27872E-5" "02325" "TAF10_000017" "g.6636499T>C" "" "" "" "TPP1(NM_000391.4):c.1328A>G (p.N443S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6615268T>C" "" "VUS" "" "0000545157" "0" "30" "11" "6636668" "6636668" "subst" "0.00474315" "01804" "TPP1_000005" "g.6636668C>T" "" "" "" "TPP1(NM_000391.3):c.1266+5G>A (p.?), TPP1(NM_000391.4):c.1266+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6615437C>T" "" "likely benign" "" "0000545158" "0" "10" "11" "6636686" "6636686" "subst" "0.00116951" "01943" "TAF10_000018" "g.6636686C>T" "" "" "" "TPP1(NM_000391.3):c.1253G>A (p.R418Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6615455C>T" "" "benign" "" "0000545159" "0" "50" "11" "6636687" "6636687" "subst" "6.49741E-5" "01943" "TAF10_000019" "g.6636687G>A" "" "" "" "TPP1(NM_000391.3):c.1252C>T (p.R418W), TPP1(NM_000391.4):c.1252C>T (p.(Arg418Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6615456G>A" "" "VUS" "" "0000545160" "0" "50" "11" "6637239" "6637239" "subst" "4.06095E-6" "02325" "TPP1_000127" "g.6637239G>C" "" "" "" "TPP1(NM_000391.4):c.1142C>G (p.S381C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6616008G>C" "" "VUS" "" "0000545161" "0" "50" "11" "6637552" "6637552" "subst" "0" "02325" "TAF10_000020" "g.6637552C>T" "" "" "" "TPP1(NM_000391.4):c.1069G>A (p.A357T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6616321C>T" "" "VUS" "" "0000545162" "0" "10" "11" "6637588" "6637588" "subst" "0.00166108" "01943" "TPP1_000132" "g.6637588T>G" "" "" "" "TPP1(NM_000391.3):c.1033A>C (p.M345L, p.(Met345Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6616357T>G" "" "benign" "" "0000545163" "0" "50" "11" "6637756" "6637759" "del" "0" "01804" "DCHS1_000118" "g.6637756_6637759del" "" "" "" "TPP1(NM_000391.3):c.887-9_887-6del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6616525_6616528del" "" "VUS" "" "0000545164" "0" "30" "11" "6637759" "6637759" "del" "0" "01804" "TPP1_000136" "g.6637759del" "" "" "" "TPP1(NM_000391.3):c.887-6delA, TPP1(NM_000391.3):c.887-6delA (p.(=)), TPP1(NM_000391.4):c.887-6delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6616528del" "" "likely benign" "" "0000545165" "0" "30" "11" "6638097" "6638097" "subst" "0.00040222" "01943" "DCHS1_000119" "g.6638097A>T" "" "" "" "TPP1(NM_000391.3):c.688-7T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6616866A>T" "" "likely benign" "" "0000545167" "0" "90" "11" "6638271" "6638271" "subst" "0.000235746" "01804" "TPP1_000043" "g.6638271G>A" "" "" "" "TPP1(NM_000391.3):c.622C>T (p.R208*, p.(Arg208Ter)), TPP1(NM_000391.4):c.622C>T (p.R208*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6617040G>A" "" "pathogenic" "" "0000545168" "0" "90" "11" "6638385" "6638385" "subst" "0.000410279" "01804" "TPP1_000022" "g.6638385C>G" "" "" "" "TPP1(NM_000391.3):c.509-1G>C (p.?), TPP1(NM_000391.4):c.509-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6617154C>G" "" "pathogenic" "" "0000545169" "0" "90" "11" "6638385" "6638385" "subst" "1.21865E-5" "02325" "TPP1_000023" "g.6638385C>T" "" "" "" "TPP1(NM_000391.4):c.509-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6617154C>T" "" "pathogenic" "" "0000545170" "0" "10" "11" "6638669" "6638669" "dup" "0" "02326" "DCHS1_000120" "g.6638669dup" "" "" "" "TPP1(NM_000391.4):c.381-10dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6617438dup" "" "benign" "" "0000545171" "0" "90" "11" "6638858" "6638858" "subst" "6.90344E-5" "01943" "TPP1_000038" "g.6638858G>A" "" "" "" "TPP1(NM_000391.3):c.379C>T (p.R127*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6617627G>A" "" "pathogenic" "" "0000545172" "0" "30" "11" "6638938" "6638938" "subst" "0.00226616" "02326" "TPP1_000058" "g.6638938T>C" "" "" "" "TPP1(NM_000391.3):c.299A>G (p.Q100R, p.(Gln100Arg)), TPP1(NM_000391.4):c.299A>G (p.Q100R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6617707T>C" "" "likely benign" "" "0000545173" "0" "30" "11" "6638944" "6638944" "subst" "0.00136463" "01943" "DCHS1_000121" "g.6638944G>A" "" "" "" "TPP1(NM_000391.3):c.293C>T (p.T98M), TPP1(NM_000391.4):c.293C>T (p.T98M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6617713G>A" "" "likely benign" "" "0000545174" "0" "30" "11" "6638944" "6638944" "subst" "0.00136463" "02326" "DCHS1_000121" "g.6638944G>A" "" "" "" "TPP1(NM_000391.3):c.293C>T (p.T98M), TPP1(NM_000391.4):c.293C>T (p.T98M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6617713G>A" "" "likely benign" "" "0000545176" "0" "30" "11" "6640618" "6640618" "subst" "0.00114509" "01943" "TPP1_000147" "g.6640618G>T" "" "" "" "TPP1(NM_000391.3):c.14C>A (p.A5D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6619387G>T" "" "likely benign" "" "0000545177" "0" "30" "11" "6643057" "6643057" "subst" "0.000189515" "01943" "DCHS1_000123" "g.6643057C>T" "" "" "" "DCHS1(NM_003737.2):c.9853G>A (p.E3285K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6621826C>T" "" "likely benign" "" "0000545178" "0" "30" "11" "6643298" "6643298" "subst" "0.000890116" "01943" "DCHS1_000124" "g.6643298G>C" "" "" "" "DCHS1(NM_003737.2):c.9612C>G (p.L3204=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6622067G>C" "" "likely benign" "" "0000545180" "0" "50" "11" "6643576" "6643576" "subst" "0" "01804" "DCHS1_000126" "g.6643576C>T" "" "" "" "DCHS1(NM_003737.2):c.9331G>A (p.(Gly3111Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6622345C>T" "" "VUS" "" "0000545181" "0" "50" "11" "6643612" "6643612" "subst" "0.000200633" "01943" "DCHS1_000127" "g.6643612G>A" "" "" "" "DCHS1(NM_003737.2):c.9298C>T (p.P3100S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6622381G>A" "" "VUS" "" "0000545182" "0" "50" "11" "6643753" "6643753" "subst" "0" "01943" "DCHS1_000128" "g.6643753G>A" "" "" "" "DCHS1(NM_003737.2):c.9157C>T (p.L3053=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6622522G>A" "" "VUS" "" "0000545183" "0" "50" "11" "6644023" "6644023" "subst" "0" "02325" "DCHS1_000014" "g.6644023G>A" "" "" "" "DCHS1(NM_003737.2):c.8884C>T (p.(Arg2962Trp)), DCHS1(NM_003737.4):c.8884C>T (p.R2962W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6622792G>A" "" "VUS" "" "0000545184" "0" "50" "11" "6644149" "6644149" "subst" "0.000853521" "01943" "DCHS1_000017" "g.6644149C>T" "" "" "" "DCHS1(NM_003737.2):c.8761G>A (p.D2921N), DCHS1(NM_003737.4):c.8758G>A (p.V2920M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6622918C>T" "" "VUS" "" "0000545186" "0" "30" "11" "6644270" "6644270" "subst" "0" "01943" "DCHS1_000019" "g.6644270G>A" "" "" "" "DCHS1(NM_003737.2):c.8640C>T (p.G2880=), DCHS1(NM_003737.4):c.8637C>T (p.S2879=, p.(Ser2879=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6623039G>A" "" "likely benign" "" "0000545187" "0" "30" "11" "6644308" "6644308" "subst" "0.00547244" "01804" "DCHS1_000020" "g.6644308C>T" "" "" "" "DCHS1(NM_003737.2):c.8599G>A (p.(Ala2867Thr)), DCHS1(NM_003737.4):c.8599G>A (p.A2867T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6623077C>T" "" "likely benign" "" "0000545190" "0" "30" "11" "6644464" "6644464" "subst" "9.47724E-5" "01943" "DCHS1_000024" "g.6644464C>T" "" "" "" "DCHS1(NM_003737.2):c.8446G>A (p.A2816T), DCHS1(NM_003737.4):c.8443G>A (p.A2815T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6623233C>T" "" "likely benign" "" "0000545191" "0" "30" "11" "6644643" "6644643" "subst" "0.000183879" "01943" "DCHS1_000131" "g.6644643C>T" "" "" "" "DCHS1(NM_003737.2):c.8267G>A (p.G2756E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6623412C>T" "" "likely benign" "" "0000545192" "0" "30" "11" "6644711" "6644711" "subst" "0.00199388" "01943" "DCHS1_000132" "g.6644711G>A" "" "" "" "DCHS1(NM_003737.2):c.8199C>T (p.G2733=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6623480G>A" "" "likely benign" "" "0000545197" "0" "30" "11" "6645459" "6645459" "subst" "0.000886568" "01943" "DCHS1_000135" "g.6645459G>A" "" "" "" "DCHS1(NM_003737.2):c.7448C>T (p.(Thr2483Ile)), DCHS1(NM_003737.2):c.7451C>T (p.S2484L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6624228G>A" "" "likely benign" "" "0000545198" "0" "30" "11" "6645459" "6645459" "subst" "0.000886568" "01804" "DCHS1_000135" "g.6645459G>A" "" "" "" "DCHS1(NM_003737.2):c.7448C>T (p.(Thr2483Ile)), DCHS1(NM_003737.2):c.7451C>T (p.S2484L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6624228G>A" "" "likely benign" "" "0000545200" "0" "50" "11" "6645468" "6645468" "subst" "4.09591E-6" "01943" "DCHS1_000136" "g.6645468G>A" "" "" "" "DCHS1(NM_003737.2):c.7442C>T (p.T2481I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6624237G>A" "" "VUS" "" "0000545202" "0" "10" "11" "6645522" "6645522" "subst" "0.0132526" "02330" "DCHS1_000137" "g.6645522C>T" "" "" "" "DCHS1(NM_003737.2):c.7385G>A (p.(Arg2462Gln)), DCHS1(NM_003737.2):c.7388G>A (p.G2463E), DCHS1(NM_003737.4):c.7385G>A (p.R2462Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6624291C>T" "" "benign" "" "0000545203" "0" "50" "11" "6645522" "6645522" "subst" "0.0132526" "01943" "DCHS1_000137" "g.6645522C>T" "" "" "" "DCHS1(NM_003737.2):c.7385G>A (p.(Arg2462Gln)), DCHS1(NM_003737.2):c.7388G>A (p.G2463E), DCHS1(NM_003737.4):c.7385G>A (p.R2462Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6624291C>T" "" "VUS" "" "0000613587" "0" "50" "11" "6630114" "6630114" "subst" "0" "01943" "TAF10_000021" "g.6630114G>C" "" "" "" "ILK(NM_004517.2):c.449-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6608883G>C" "" "VUS" "" "0000613588" "0" "50" "11" "6630132" "6630132" "subst" "6.90316E-5" "02327" "ILK_000002" "g.6630132G>A" "" "" "" "ILK(NM_004517.4):c.466G>A (p.G156S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6608901G>A" "" "VUS" "" "0000613589" "0" "30" "11" "6631689" "6631689" "subst" "0.000300561" "02327" "TAF10_000022" "g.6631689G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6610458G>A" "" "likely benign" "" "0000613592" "0" "30" "11" "6636721" "6636721" "subst" "4.06105E-5" "01943" "TAF10_000023" "g.6636721A>G" "" "" "" "TPP1(NM_000391.3):c.1218T>C (p.Y406=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6615490A>G" "" "likely benign" "" "0000613593" "0" "10" "11" "6637518" "6637518" "subst" "0.997486" "01943" "TPP1_000167" "g.6637518A>G" "" "" "" "TPP1(NM_000391.3):c.1075+28T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6616287A>G" "" "benign" "" "0000613595" "0" "30" "11" "6640051" "6640051" "subst" "0.00138132" "01804" "DCHS1_000226" "g.6640051G>A" "" "" "" "TPP1(NM_000391.3):c.185C>T (p.(Ser62Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6618820G>A" "" "likely benign" "" "0000613596" "0" "50" "11" "6640117" "6640117" "subst" "2.03414E-5" "01943" "DCHS1_000227" "g.6640117C>T" "" "" "" "TPP1(NM_000391.3):c.119G>A (p.R40H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6618886C>T" "" "VUS" "" "0000613597" "0" "50" "11" "6643110" "6643110" "subst" "0.000355519" "01943" "DCHS1_000228" "g.6643110G>A" "" "" "" "DCHS1(NM_003737.2):c.9800C>T (p.A3267V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6621879G>A" "" "VUS" "" "0000613598" "0" "50" "11" "6643542" "6643542" "subst" "0" "02325" "DCHS1_000229" "g.6643542C>T" "" "" "" "DCHS1(NM_003737.4):c.9365G>A (p.G3122D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6622311C>T" "" "VUS" "" "0000613599" "0" "50" "11" "6643810" "6643810" "subst" "0" "02325" "DCHS1_000230" "g.6643810G>A" "" "" "" "DCHS1(NM_003737.4):c.9097C>T (p.R3033*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6622579G>A" "" "VUS" "" "0000622684" "0" "50" "11" "6630632" "6630632" "subst" "2.03156E-5" "01943" "TAF10_000006" "g.6630632C>T" "" "" "" "ILK(NM_001014795.3):c.721C>T (p.R241W), ILK(NM_004517.2):c.721C>T (p.R241W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6609401C>T" "" "VUS" "" "0000622686" "0" "50" "11" "6638351" "6638351" "subst" "0.000280246" "01943" "DCHS1_000225" "g.6638351G>A" "" "" "" "TPP1(NM_000391.3):c.542C>T (p.S181F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6617120G>A" "" "VUS" "" "0000622688" "0" "70" "11" "6640422" "6640422" "subst" "4.06339E-6" "02325" "TPP1_000014" "g.6640422C>G" "" "" "" "TPP1(NM_000391.4):c.89+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6619191C>G" "" "likely pathogenic" "" "0000622689" "0" "50" "11" "6645108" "6645108" "subst" "4.07827E-6" "01943" "DCHS1_000231" "g.6645108G>A" "" "" "" "DCHS1(NM_003737.2):c.7802C>T (p.A2601V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6623877G>A" "" "VUS" "" "0000648341" "1" "70" "11" "6636403" "6636403" "subst" "1.6243E-5" "03575" "TPP1_000100" "g.6636403G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs121908202}" "Germline" "" "rs121908202" "0" "" "" "g.6615172G>A" "" "likely pathogenic" "" "0000648342" "1" "70" "11" "6636448" "6636448" "subst" "0" "03575" "TPP1_000105" "g.6636448C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs786204753}" "Germline" "" "rs786204753" "0" "" "" "g.6615217C>T" "" "likely pathogenic" "" "0000648343" "1" "90" "11" "6636487" "6636487" "subst" "8.12123E-6" "03575" "TPP1_000048" "g.6636487C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs119455956}" "Germline" "" "rs119455956" "0" "" "" "g.6615256C>T" "" "pathogenic" "" "0000648345" "1" "90" "11" "6637288" "6637288" "subst" "0" "03575" "TPP1_000055" "g.6637288A>G" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs119455953}" "Germline" "" "rs119455953" "0" "" "" "g.6616057A>G" "" "pathogenic" "" "0000648346" "1" "70" "11" "6637933" "6637933" "subst" "0" "03575" "TPP1_000181" "g.6637933C>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs796053440}" "Germline" "" "rs796053440" "0" "" "" "g.6616702C>T" "" "likely pathogenic" "" "0000648348" "1" "90" "11" "6638271" "6638271" "subst" "0.000235746" "03575" "TPP1_000043" "g.6638271G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs119455955}" "Germline" "" "rs119455955" "0" "" "" "g.6617040G>A" "" "pathogenic" "" "0000648349" "1" "90" "11" "6638858" "6638858" "subst" "6.90344E-5" "03575" "TPP1_000038" "g.6638858G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs756564767}" "Germline" "" "rs756564767" "0" "" "" "g.6617627G>A" "" "pathogenic" "" "0000656864" "0" "50" "11" "6629353" "6629353" "subst" "0" "02326" "RRP8_000004" "g.6629353G>T" "" "" "" "ILK(NM_001014795.3):c.167G>T (p.R56L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6608123G>T" "" "VUS" "" "0000656869" "0" "30" "11" "6644864" "6644864" "subst" "0.000247897" "01943" "DCHS1_000250" "g.6644864G>A" "" "" "" "DCHS1(NM_003737.2):c.8046C>T (p.P2682=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6623633G>A" "" "likely benign" "" "0000667567" "1" "90" "11" "6638926" "6638926" "subst" "4.06088E-6" "00006" "TPP1_000083" "g.6638926A>T" "" "{PMID:Helbig 2016:26795593}" "" "" "" "Germline" "" "" "0" "" "" "g.6617695A>T" "" "pathogenic (recessive)" "ACMG" "0000667569" "1" "90" "11" "6636673" "6636673" "subst" "2.03039E-5" "00006" "TPP1_000062" "g.6636673C>G" "" "{PMID:Helbig 2016:26795593}" "" "" "" "Germline" "" "" "0" "" "" "g.6615442C>G" "" "pathogenic (recessive)" "ACMG" "0000667596" "2" "90" "11" "6638385" "6638385" "subst" "0.000410279" "00006" "TPP1_000022" "g.6638385C>G" "" "{PMID:Helbig 2016:26795593}" "" "" "" "Germline" "" "" "0" "" "" "g.6617154C>G" "" "pathogenic (recessive)" "ACMG" "0000667597" "2" "90" "11" "6638271" "6638271" "subst" "0.000235746" "00006" "TPP1_000043" "g.6638271G>A" "" "{PMID:Helbig 2016:26795593}" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "pathogenic (recessive)" "ACMG" "0000679277" "0" "50" "11" "6629343" "6629343" "subst" "0.000393886" "01943" "ILK_000004" "g.6629343T>A" "" "" "" "ILK(NM_004517.2):c.157T>A (p.L53M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679278" "0" "50" "11" "6629376" "6629376" "subst" "0" "02326" "ILK_000022" "g.6629376A>C" "" "" "" "ILK(NM_001014795.3):c.190A>C (p.N64H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679279" "0" "30" "11" "6629920" "6629920" "subst" "0" "01943" "ILK_000023" "g.6629920C>G" "" "" "" "ILK(NM_004517.2):c.352-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679280" "0" "50" "11" "6630132" "6630132" "subst" "6.90316E-5" "02325" "ILK_000002" "g.6630132G>A" "" "" "" "ILK(NM_004517.4):c.466G>A (p.G156S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679281" "0" "50" "11" "6631234" "6631234" "subst" "0.000105623" "02326" "TAF10_000010" "g.6631234G>A" "" "" "" "ILK(NM_001014795.3):c.1046G>A (p.R349H), ILK(NM_004517.2):c.1046G>A (p.R349H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679282" "0" "50" "11" "6631386" "6631386" "subst" "1.62433E-5" "01943" "ILK_000024" "g.6631386G>C" "" "" "" "ILK(NM_004517.2):c.1086G>C (p.Q362H), ILK(NM_004517.4):c.1086G>C (p.(Gln362His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679283" "0" "50" "11" "6631436" "6631436" "subst" "4.06068E-6" "01943" "ILK_000025" "g.6631436C>T" "" "" "" "ILK(NM_004517.2):c.1136C>T (p.A379V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679284" "0" "30" "11" "6636154" "6636154" "subst" "0.00867005" "01943" "TAF10_000024" "g.6636154G>A" "" "" "" "TPP1(NM_000391.3):c.1494C>T (p.P498=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679285" "0" "90" "11" "6636430" "6636430" "subst" "4.06068E-6" "02325" "TPP1_000113" "g.6636430A>C" "" "" "" "TPP1(NM_000391.3):c.1397T>G (p.V466G), TPP1(NM_000391.4):c.1397T>G (p.V466G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000679286" "0" "30" "11" "6640474" "6640474" "subst" "0.000954291" "02326" "DCHS1_000257" "g.6640474G>T" "" "" "" "TPP1(NM_000391.4):c.42C>A (p.I14=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679287" "0" "30" "11" "6643073" "6643073" "subst" "0.000320667" "01943" "DCHS1_000258" "g.6643073T>C" "" "" "" "DCHS1(NM_003737.2):c.9837A>G (p.A3279=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679288" "0" "30" "11" "6643109" "6643109" "subst" "4.1375E-6" "01943" "DCHS1_000259" "g.6643109G>A" "" "" "" "DCHS1(NM_003737.2):c.9801C>T (p.V3267=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679289" "0" "50" "11" "6643638" "6643638" "subst" "0.000517655" "01943" "DCHS1_000260" "g.6643638T>A" "" "" "" "DCHS1(NM_003737.2):c.9272A>T (p.K3091M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000683445" "3" "90" "11" "6637234" "6637234" "subst" "0" "03765" "TPP1_000188" "g.6637234A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000683446" "3" "90" "11" "6636672" "6636672" "subst" "0" "03765" "TPP1_000189" "g.6636672C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000683447" "3" "90" "11" "6636204" "6636204" "subst" "0" "03765" "TPP1_000190" "g.6636204C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000683448" "3" "70" "11" "6640073" "6640073" "subst" "0" "03765" "TPP1_000182" "g.6640073G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000683449" "3" "90" "11" "6635806" "6635806" "del" "0" "03765" "TPP1_000191" "g.6635806del" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000683453" "3" "70" "11" "6638365" "6638365" "del" "0" "03765" "TPP1_000183" "g.6638365del" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000683454" "3" "90" "11" "6638276" "6638276" "subst" "4.06514E-6" "03765" "TPP1_000184" "g.6638276C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000683455" "3" "90" "11" "6638049" "6638049" "subst" "0" "03765" "TPP1_000185" "g.6638049G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000683456" "3" "70" "11" "6637976" "6637976" "del" "0" "03765" "TPP1_000186" "g.6637976del" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000683457" "3" "70" "11" "6637891" "6640145" "del" "0" "03765" "TPP1_000187" "g.(6637735_6637891)_(6640145_6640428)del" "" "" "" "6637892_6640146del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000691133" "0" "50" "11" "6630601" "6630604" "del" "0" "01943" "ILK_000026" "g.6630601_6630604del" "" "" "" "ILK(NM_004517.2):c.690_693delGAAG (p.K231Afs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691136" "0" "90" "11" "6639000" "6639000" "subst" "0" "01943" "DCHS1_000266" "g.6639000G>T" "" "" "" "TPP1(NM_000391.3):c.237C>A (p.Y79*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000691138" "0" "30" "11" "6644149" "6644149" "subst" "0.000853521" "02326" "DCHS1_000017" "g.6644149C>T" "" "" "" "DCHS1(NM_003737.2):c.8761G>A (p.D2921N), DCHS1(NM_003737.4):c.8758G>A (p.V2920M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691139" "0" "50" "11" "6645298" "6645298" "subst" "1.22979E-5" "02326" "DCHS1_000267" "g.6645298G>A" "" "" "" "DCHS1(NM_003737.4):c.7609C>T (p.L2537=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691140" "0" "30" "11" "6645635" "6645635" "subst" "0" "02326" "DCHS1_000268" "g.6645635G>A" "" "" "" "DCHS1(NM_003737.4):c.7286-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723607" "0" "30" "11" "6629650" "6629650" "subst" "0.00017055" "02326" "ILK_000027" "g.6629650T>C" "" "" "" "ILK(NM_004517.2):c.282T>C (p.N94=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723611" "0" "30" "11" "6636431" "6636431" "subst" "0.000739032" "02326" "TAF10_000016" "g.6636431C>T" "" "" "" "TPP1(NM_000391.4):c.1396G>A (p.V466M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723612" "0" "70" "11" "6637606" "6637606" "subst" "4.06154E-6" "01943" "TPP1_000047" "g.6637606G>A" "" "" "" "TPP1(NM_000391.3):c.1015C>T (p.R339W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000723613" "0" "50" "11" "6638382" "6638382" "subst" "0" "01943" "DCHS1_000273" "g.6638382C>T" "" "" "" "TPP1(NM_000391.3):c.511G>A (p.G171R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723614" "0" "90" "11" "6638385" "6638385" "subst" "0.000410279" "02329" "TPP1_000022" "g.6638385C>G" "" "" "" "TPP1(NM_000391.3):c.509-1G>C (p.?), TPP1(NM_000391.4):c.509-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000723615" "0" "50" "11" "6644517" "6644517" "subst" "0" "02325" "DCHS1_000274" "g.6644517A>G" "" "" "" "DCHS1(NM_003737.4):c.8390T>C (p.V2797A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000734446" "0" "70" "11" "6637290" "6637290" "subst" "0" "04011" "TPP1_000192" "g.6637290C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000763112" "3" "90" "11" "6636096" "6636096" "subst" "4.06144E-6" "00006" "TPP1_000009" "g.6636096C>T" "" "{PMID:Anazi 2017:27431290}" "" "" "ACMG PVS1, PM2, PP1" "Germline" "" "" "0" "" "" "g.6614865C>T" "" "pathogenic" "ACMG" "0000787071" "0" "90" "11" "6638549" "6638549" "dup" "0" "00006" "TPP1_000196" "g.6638549dup" "" "{PMID:Ganapathy 2019:31069529}" "" "c.496dupC" "" "Germline" "" "" "0" "" "" "g.6617318dup" "" "pathogenic" "" "0000787072" "3" "90" "11" "6636794" "6636794" "subst" "0" "00006" "TPP1_000195" "g.6636794C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.6615563C>T" "{CV-RCV:000494500}" "pathogenic" "" "0000787073" "3" "70" "11" "6636675" "6636675" "subst" "0" "00006" "TPP1_000193" "g.6636675G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.6615444G>A" "" "likely pathogenic" "" "0000787419" "3" "50" "11" "6640154" "6640154" "subst" "0" "00006" "TPP1_000197" "g.6640154G>C" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.6618923G>C" "" "VUS" "" "0000787420" "3" "50" "11" "6636715" "6636717" "del" "4.06091E-6" "00006" "TPP1_000194" "g.6636715_6636717del" "" "{PMID:Ganapathy 2019:31069529}" "" "c.1222_1224delAGT" "" "Germline" "" "rs1474804613" "0" "" "" "g.6615484_6615486del" "" "VUS" "" "0000787532" "0" "90" "11" "6638271" "6638271" "subst" "0.000235746" "00000" "TPP1_000043" "g.6638271G>A" "" "0" "" "" "" "Germline" "" "" "0" "" "" "g.6617040G>A" "" "pathogenic" "" "0000805290" "0" "50" "11" "6630558" "6630558" "subst" "2.03092E-5" "02325" "ILK_000028" "g.6630558A>G" "" "" "" "ILK(NM_004517.2):c.647A>G (p.D216G), ILK(NM_004517.4):c.647A>G (p.D216G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805291" "0" "50" "11" "6631831" "6631831" "subst" "0" "01943" "ILK_000029" "g.6631831C>A" "" "" "" "ILK(NM_004517.2):c.1348C>A (p.Q450K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805294" "0" "30" "11" "6636232" "6636232" "subst" "0.000113707" "01943" "ILK_000030" "g.6636232T>C" "" "" "" "TPP1(NM_000391.3):c.1426-10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805295" "0" "70" "11" "6637605" "6637605" "subst" "4.06118E-6" "02329" "TPP1_000046" "g.6637605C>T" "" "" "" "TPP1(NM_000391.3):c.1016G>A (p.R339Q, p.(Arg339Gln)), TPP1(NM_000391.4):c.1016G>A (p.R339Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000805296" "0" "50" "11" "6637982" "6637982" "subst" "0.000231544" "01943" "DCHS1_000289" "g.6637982G>A" "" "" "" "TPP1(NM_000391.3):c.796C>T (p.R266W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805297" "0" "90" "11" "6638385" "6638385" "subst" "0.000410279" "02326" "TPP1_000022" "g.6638385C>G" "" "" "" "TPP1(NM_000391.3):c.509-1G>C (p.?), TPP1(NM_000391.4):c.509-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000805298" "0" "30" "11" "6640135" "6640135" "subst" "0.000370962" "01943" "DCHS1_000290" "g.6640135C>T" "" "" "" "TPP1(NM_000391.3):c.101G>A (p.G34D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805299" "0" "30" "11" "6643664" "6643664" "subst" "0.000273887" "01943" "DCHS1_000007" "g.6643664G>A" "" "" "" "DCHS1(NM_003737.2):c.9246C>T (p.D3082=), DCHS1(NM_003737.4):c.9243C>T (p.C3081=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805300" "0" "50" "11" "6644464" "6644464" "subst" "9.47724E-5" "02325" "DCHS1_000024" "g.6644464C>T" "" "" "" "DCHS1(NM_003737.2):c.8446G>A (p.A2816T), DCHS1(NM_003737.4):c.8443G>A (p.A2815T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805301" "0" "30" "11" "6644585" "6644585" "subst" "0" "01943" "DCHS1_000291" "g.6644585G>A" "" "" "" "DCHS1(NM_003737.2):c.8325C>T (p.Y2775=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000811460" "3" "70" "11" "6636403" "6636403" "subst" "1.6243E-5" "00000" "TPP1_000100" "g.6636403G>A" "" "{PMID:Dozieres-Puyravel 2020:31489614}" "" "c.1424C>T, p.Ser475Leu" "Homozygous" "Germline" "?" "" "0" "" "" "g.6615172G>A" "" "likely pathogenic" "ACMG" "0000811461" "3" "70" "11" "6640007" "6640007" "subst" "8.1369E-6" "00000" "TPP1_000201" "g.6640007C>G" "" "{PMID:Dozieres-Puyravel 2020:31489614}" "" "c.229G>C, p.Gly77Arg" "Homozygous" "Germline" "?" "" "0" "" "" "g.6618776C>G" "" "likely pathogenic" "ACMG" "0000811462" "3" "70" "11" "6638271" "6638271" "subst" "0.000235746" "00000" "TPP1_000043" "g.6638271G>A" "" "{PMID:Dozieres-Puyravel 2020:31489614}" "" "c.622C>T, p.Arg208*" "Homozygous" "Germline" "?" "" "0" "" "" "g.6617040G>A" "" "likely pathogenic" "ACMG" "0000811463" "0" "70" "11" "6640040" "6640040" "subst" "1.21895E-5" "00000" "TPP1_000065" "g.6640040G>A" "" "{PMID:Dozieres-Puyravel 2020:31489614}" "" "c.196C>T, p.Gln66*" "heterozygous" "Germline" "?" "" "0" "" "" "g.6618809G>A" "" "likely pathogenic" "ACMG" "0000811464" "0" "70" "11" "6638385" "6638385" "subst" "0.000410279" "00000" "TPP1_000022" "g.6638385C>G" "" "{PMID:Dozieres-Puyravel 2020:31489614}" "" "c.509-1G>C, p.Phe169* / Val170Glyfs*29" "heterozygous" "Germline" "?" "" "0" "" "" "g.6617154C>G" "" "likely pathogenic" "ACMG" "0000811465" "0" "70" "11" "6636177" "6636177" "del" "0" "00000" "TPP1_000200" "g.6636177del" "" "{PMID:Dozieres-Puyravel 2020:31489614}" "" "c.1471del, p.His491Thrfs*28" "heterozygous" "Germline" "?" "" "0" "" "" "g.6614946del" "" "likely pathogenic" "ACMG" "0000811466" "3" "70" "11" "6637606" "6637606" "subst" "4.06154E-6" "00000" "TPP1_000047" "g.6637606G>A" "" "{PMID:Dozieres-Puyravel 2020:31489614}" "" "c.1015C>T, p.Arg339Trp" "Homozygous" "Germline" "?" "" "0" "" "" "g.6616375G>A" "" "likely pathogenic" "ACMG" "0000811467" "3" "70" "11" "6640011" "6640011" "subst" "2.8462E-5" "00000" "TPP1_000002" "g.6640011T>C" "" "{PMID:Dozieres-Puyravel 2020:31489614}" "" "c.225A>G, p.(=)" "Homozygous" "Germline" "?" "" "0" "" "" "g.6618780T>C" "" "likely pathogenic" "ACMG" "0000811468" "3" "70" "11" "6640011" "6640011" "subst" "2.8462E-5" "00000" "TPP1_000002" "g.6640011T>C" "" "{PMID:Dozieres-Puyravel 2020:31489614}" "" "c.225A>G, p.(=)" "Homozygous" "Germline" "?" "" "0" "" "" "g.6618780T>C" "" "likely pathogenic" "ACMG" "0000811476" "0" "70" "11" "6638271" "6638271" "subst" "0.000235746" "00000" "TPP1_000043" "g.6638271G>A" "" "{PMID:Dozieres-Puyravel 2020:31489614}" "" "c.622C>T, p.Arg208*" "heterozygous" "Germline" "?" "" "0" "" "" "g.6617040G>A" "" "likely pathogenic" "ACMG" "0000811477" "0" "70" "11" "6638385" "6638385" "subst" "1.21865E-5" "00000" "TPP1_000023" "g.6638385C>T" "" "{PMID:Dozieres-Puyravel 2020:31489614}" "" "c.509-1G>A, p.(Gly171Thrfs*5)" "heterozygous" "Germline" "?" "" "0" "" "" "g.6617154C>T" "" "likely pathogenic" "ACMG" "0000811478" "0" "70" "11" "6635876" "6635876" "dup" "0" "00000" "TPP1_000198" "g.6635876dup" "" "{PMID:Dozieres-Puyravel 2020:31489614}" "" "c.1593dup, p.Glu532Argfs*?" "heterozygous" "Germline" "?" "" "0" "" "" "g.6614645dup" "" "likely pathogenic" "ACMG" "0000812850" "3" "90" "11" "6636095" "6636096" "ins" "0" "00000" "TPP1_000199" "g.6636095_6636096insATCA" "" "{PMID:Surl 2020:32165824}" "" "1 homozygous AR TPP1 c.1551+1insTGAT aberrant splicing of Exon 12" "homozygous" "Germline" "yes" "" "0" "" "" "g.6614864_6614865insATCA" "" "pathogenic" "" "0000812874" "0" "70" "11" "6638385" "6638385" "subst" "0.000410279" "00000" "TPP1_000022" "g.6638385C>G" "" "{PMID:Jilani 2019:31741823}" "" "c.509-1G>C" "Compound heterozygous" "Germline" "yes" "" "0" "" "" "g.6617154C>G" "" "likely pathogenic" "" "0000812875" "0" "70" "11" "6638385" "6638385" "subst" "0.000410279" "00000" "TPP1_000022" "g.6638385C>G" "" "{PMID:Jilani 2019:31741823}" "" "c.509-1G>C" "Compound heterozygous" "Germline" "yes" "" "0" "" "" "g.6617154C>G" "" "likely pathogenic" "" "0000812898" "0" "70" "11" "6638385" "6638385" "subst" "0.000410279" "00000" "TPP1_000022" "g.6638385C>G" "" "{PMID:Jilani 2019:31741823}" "" "c.509-1G>C12," "Compound heterozygous" "Germline" "?" "" "0" "" "" "g.6617154C>G" "" "likely pathogenic" "" "0000812899" "0" "70" "11" "6638271" "6638271" "subst" "0.000235746" "00000" "TPP1_000043" "g.6638271G>A" "" "{PMID:Jilani 2019:31741823}" "" "c.622C>T, p.(Arg208*)" "Compound heterozygous" "Germline" "?" "" "0" "" "" "g.6617040G>A" "" "likely pathogenic" "" "0000812900" "0" "70" "11" "6638385" "6638385" "subst" "0.000410279" "00000" "TPP1_000022" "g.6638385C>G" "" "{PMID:Jilani 2019:31741823}" "" "c.509-1G>C13," "Compound heterozygous" "Germline" "?" "" "0" "" "" "g.6617154C>G" "" "likely pathogenic" "" "0000812901" "0" "70" "11" "6637557" "6637557" "subst" "0" "00000" "TPP1_000087" "g.6637557A>G" "" "{PMID:Jilani 2019:31741823}" "" "c.1064T>C, p.(Leu355Pro)" "Compound heterozygous" "Germline" "?" "" "0" "" "" "g.6616326A>G" "" "likely pathogenic" "" "0000812902" "0" "70" "11" "6638385" "6638385" "subst" "0.000410279" "00000" "TPP1_000022" "g.6638385C>G" "" "{PMID:Jilani 2019:31741823}" "" "c.509-1G>C," "Compound heterozygous" "Germline" "?" "" "0" "" "" "g.6617154C>G" "" "likely pathogenic" "" "0000812903" "0" "70" "11" "6638271" "6638271" "subst" "0.000235746" "00000" "TPP1_000043" "g.6638271G>A" "" "{PMID:Jilani 2019:31741823}" "" "c.622C>T, p.(Arg208*)" "Compound heterozygous" "Germline" "?" "" "0" "" "" "g.6617040G>A" "" "likely pathogenic" "" "0000812904" "0" "70" "11" "6640007" "6640007" "subst" "8.1369E-6" "00000" "TPP1_000201" "g.6640007C>G" "" "{PMID:Jilani 2019:31741823}" "" "c.229G>C, p.(Gly77Arg)" "Compound heterozygous" "Germline" "yes" "" "0" "" "" "g.6618776C>G" "" "likely pathogenic" "" "0000812905" "0" "70" "11" "6640007" "6640007" "subst" "8.1369E-6" "00000" "TPP1_000201" "g.6640007C>G" "" "{PMID:Jilani 2019:31741823}" "" "c.229G>C, p.(Gly77Arg)" "Compound heterozygous" "Germline" "yes" "" "0" "" "" "g.6618776C>G" "" "likely pathogenic" "" "0000818613" "3" "70" "11" "6638271" "6638271" "subst" "0.000235746" "00000" "TPP1_000043" "g.6638271G>A" "" "{PMID:Kozina 2020:32412666}" "" "c.622C>T, (p.Arg208*)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.6617040G>A" "" "likely pathogenic" "" "0000853097" "0" "30" "11" "6630524" "6630524" "subst" "0.000865171" "01943" "ILK_000009" "g.6630524C>T" "" "" "" "ILK(NM_001014795.3):c.619-6C>T, ILK(NM_004517.2):c.619-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853098" "0" "50" "11" "6630558" "6630558" "subst" "2.03092E-5" "01943" "ILK_000028" "g.6630558A>G" "" "" "" "ILK(NM_004517.2):c.647A>G (p.D216G), ILK(NM_004517.4):c.647A>G (p.D216G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853099" "0" "50" "11" "6631066" "6631066" "subst" "1.21828E-5" "02325" "ILK_000031" "g.6631066G>A" "" "" "" "ILK(NM_004517.4):c.968G>A (p.R323H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853100" "0" "50" "11" "6637630" "6637630" "subst" "0" "01943" "DCHS1_000305" "g.6637630A>G" "" "" "" "TPP1(NM_000391.3):c.991T>C (p.S331P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853101" "0" "30" "11" "6637682" "6637682" "subst" "0" "01943" "DCHS1_000306" "g.6637682A>G" "" "" "" "TPP1(NM_000391.3):c.939T>C (p.N313=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853102" "0" "10" "11" "6637757" "6637759" "del" "0" "02325" "TPP1_000134" "g.6637757_6637759del" "" "" "" "TPP1(NM_000391.3):c.887-8_887-6del (p.(=)), TPP1(NM_000391.4):c.887-8_887-6delAAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000853103" "0" "10" "11" "6637759" "6637759" "del" "0" "02325" "TPP1_000136" "g.6637759del" "" "" "" "TPP1(NM_000391.3):c.887-6delA, TPP1(NM_000391.3):c.887-6delA (p.(=)), TPP1(NM_000391.4):c.887-6delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000853104" "0" "30" "11" "6643349" "6643349" "subst" "2.04003E-5" "01943" "DCHS1_000308" "g.6643349G>C" "" "" "" "DCHS1(NM_003737.2):c.9561C>G (p.N3187K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862644" "0" "30" "11" "6636747" "6636747" "subst" "3.65767E-5" "01943" "TAF10_000025" "g.6636747G>A" "" "" "" "TPP1(NM_000391.3):c.1192C>T (p.L398F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862645" "0" "50" "11" "6643083" "6643083" "subst" "4.61313E-5" "02325" "DCHS1_000307" "g.6643083T>C" "" "" "" "DCHS1(NM_003737.4):c.9824A>G (p.Q3275R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862646" "0" "30" "11" "6645634" "6645634" "subst" "2.8171E-5" "01943" "DCHS1_000309" "g.6645634C>T" "" "" "" "DCHS1(NM_003737.2):c.7286-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890094" "0" "90" "11" "6636430" "6636430" "subst" "4.06068E-6" "02326" "TPP1_000113" "g.6636430A>C" "" "" "" "TPP1(NM_000391.3):c.1397T>G (p.V466G), TPP1(NM_000391.4):c.1397T>G (p.V466G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000890095" "0" "90" "11" "6638271" "6638271" "subst" "0.000235746" "02329" "TPP1_000043" "g.6638271G>A" "" "" "" "TPP1(NM_000391.3):c.622C>T (p.R208*, p.(Arg208Ter)), TPP1(NM_000391.4):c.622C>T (p.R208*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000890096" "0" "50" "11" "6645264" "6645264" "subst" "0" "02325" "DCHS1_000321" "g.6645264G>A" "" "" "" "DCHS1(NM_003737.4):c.7643C>T (p.P2548L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913665" "0" "10" "11" "6629665" "6629665" "subst" "0.261344" "02325" "ILK_000004" "g.6629665C>T" "" "" "" "ILK(NM_004517.2):c.297C>T (p.H99=), ILK(NM_004517.4):c.297C>T (p.H99=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913666" "0" "10" "11" "6630833" "6630833" "subst" "0.269612" "02325" "ILK_000014" "g.6630833G>A" "" "" "" "ILK(NM_004517.2):c.819G>A (p.P273=), ILK(NM_004517.4):c.819G>A (p.P273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913667" "0" "50" "11" "6644425" "6644425" "subst" "0" "02325" "DCHS1_000130" "g.6644425G>A" "" "" "" "DCHS1(NM_003737.4):c.8482C>T (p.R2828C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000918918" "0" "70" "11" "6638264" "6638264" "subst" "0" "01602" "TPP1_000202" "g.6638264T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "" "" "likely pathogenic" "ACMG" "0000920223" "3" "90" "11" "6637234" "6637234" "subst" "0" "04178" "TPP1_000188" "g.6637234A>C" "" "COSV100196937" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "other" "0000929953" "0" "30" "11" "6644503" "6644503" "subst" "0.00073083" "02329" "DCHS1_000331" "g.6644503G>A" "" "" "" "DCHS1(NM_003737.4):c.8404C>T (p.L2802=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979766" "0" "50" "11" "6629361" "6629361" "subst" "8.12137E-6" "02327" "RRP8_000005" "g.6629361C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979770" "0" "50" "11" "6644086" "6644086" "subst" "0" "01804" "DCHS1_000336" "g.6644086C>T" "" "" "" "DCHS1(NM_003737.4):c.8821G>A (p.(Val2941Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979771" "0" "30" "11" "6644270" "6644270" "subst" "0" "01804" "DCHS1_000019" "g.6644270G>A" "" "" "" "DCHS1(NM_003737.2):c.8640C>T (p.G2880=), DCHS1(NM_003737.4):c.8637C>T (p.S2879=, p.(Ser2879=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999333" "0" "30" "11" "6638938" "6638938" "subst" "0.00226616" "01804" "TPP1_000058" "g.6638938T>C" "" "" "" "TPP1(NM_000391.3):c.299A>G (p.Q100R, p.(Gln100Arg)), TPP1(NM_000391.4):c.299A>G (p.Q100R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999334" "0" "50" "11" "6643539" "6643539" "subst" "0" "01804" "DCHS1_000340" "g.6643539C>T" "" "" "" "DCHS1(NM_003737.2):c.9365G>A (p.(Gly3122Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999335" "0" "50" "11" "6643573" "6643573" "subst" "0" "01804" "DCHS1_000341" "g.6643573G>T" "" "" "" "DCHS1(NM_003737.2):c.9331G>A (p.(Gly3111Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999336" "0" "30" "11" "6643749" "6643749" "subst" "0" "01804" "DCHS1_000342" "g.6643749A>T" "" "" "" "DCHS1(NM_003737.2):c.9155G>A (p.(Arg3052His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999337" "0" "30" "11" "6644280" "6644280" "subst" "0" "01804" "DCHS1_000343" "g.6644280G>T" "" "" "" "DCHS1(NM_003737.2):c.8624G>A (p.(Arg2875Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999338" "0" "30" "11" "6644305" "6644305" "subst" "0" "01804" "DCHS1_000344" "g.6644305G>T" "" "" "" "DCHS1(NM_003737.2):c.8599G>A (p.(Ala2867Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999339" "0" "30" "11" "6644461" "6644461" "subst" "0" "01804" "DCHS1_000345" "g.6644461G>T" "" "" "" "DCHS1(NM_003737.2):c.8443G>A (p.(Ala2815Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999343" "0" "30" "11" "6645516" "6645516" "subst" "0" "01804" "DCHS1_000346" "g.6645516G>A" "" "" "" "DCHS1(NM_003737.2):c.7388C>T (p.(Ala2463Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001011914" "1" "90" "11" "6637951" "6637951" "subst" "1.62441E-5" "00006" "TPP1_000051" "g.6637951T>A" "" "{PMID:Salinas 2020:33084218}" "" "" "" "Germline" "" "" "0" "" "" "g.6616720T>A" "VCV000207581.5" "pathogenic (recessive)" "" "0001011998" "2" "90" "11" "6637744" "6637744" "subst" "0" "00006" "TPP1_000029" "g.6637744T>C" "" "{PMID:Salinas 2020:33084218}" "" "" "" "Germline" "" "" "0" "" "" "g.6616513T>C" "RCV000002768.3" "pathogenic (recessive)" "" "0001012421" "1" "50" "11" "6637264" "6637264" "subst" "0.00200206" "00006" "TPP1_000128" "g.6637264G>C" "" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "" "" "Germline" "" "" "0" "" "" "g.6616033G>C" "" "VUS" "" "0001014862" "0" "50" "11" "6640098" "6640098" "subst" "1.62563E-5" "01804" "DCHS1_000374" "g.6640098C>A" "" "" "" "TPP1(NM_000391.3):c.138G>T (p.(Glu46Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014863" "0" "50" "11" "6644059" "6644059" "subst" "0" "02325" "DCHS1_000071" "g.6644059C>G" "" "" "" "DCHS1(NM_003737.4):c.8848G>C (p.V2950L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026052" "0" "50" "11" "6629353" "6629353" "subst" "0" "02327" "RRP8_000004" "g.6629353G>T" "" "" "" "ILK(NM_001014795.3):c.167G>T (p.R56L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038626" "0" "50" "11" "6636687" "6636687" "subst" "6.49741E-5" "01804" "TAF10_000019" "g.6636687G>A" "" "" "" "TPP1(NM_000391.3):c.1252C>T (p.R418W), TPP1(NM_000391.4):c.1252C>T (p.(Arg418Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038627" "0" "50" "11" "6644605" "6644605" "subst" "0.000223198" "01804" "DCHS1_000383" "g.6644605G>A" "" "" "" "DCHS1(NM_003737.4):c.8302C>T (p.(Arg2768Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053796" "0" "50" "11" "6631386" "6631386" "subst" "1.62433E-5" "01804" "ILK_000024" "g.6631386G>C" "" "" "" "ILK(NM_004517.2):c.1086G>C (p.Q362H), ILK(NM_004517.4):c.1086G>C (p.(Gln362His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053797" "0" "50" "11" "6638619" "6638619" "subst" "0" "01804" "DCHS1_000388" "g.6638619A>G" "" "" "" "TPP1(NM_000391.4):c.421T>C (p.(Tyr141His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053798" "0" "30" "11" "6640029" "6640029" "subst" "1.62555E-5" "01804" "DCHS1_000389" "g.6640029C>T" "" "" "" "TPP1(NM_000391.4):c.207G>A (p.(Ser69=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053799" "0" "50" "11" "6643330" "6643330" "subst" "4.0782E-6" "01804" "DCHS1_000390" "g.6643330A>G" "" "" "" "DCHS1(NM_003737.4):c.9577T>C (p.(Cys3193Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057733" "11" "90" "11" "6638047" "6638047" "subst" "0" "00006" "TPP1_000175" "g.6638047A>G" "" "{PMID:Ohba 2013:24091540}" "" "" "" "Germline" "" "" "0" "" "" "g.6616816A>G" "" "pathogenic (recessive)" "" "0001057741" "21" "90" "11" "6637606" "6637606" "subst" "4.06154E-6" "00006" "TPP1_000047" "g.6637606G>A" "" "{PMID:Ohba 2013:24091540}" "" "" "" "Germline" "" "" "0" "" "" "g.6616375G>A" "" "pathogenic (recessive)" "" "0001059252" "0" "90" "11" "6640007" "6640007" "subst" "8.1369E-6" "00006" "TPP1_000201" "g.6640007C>G" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.6618776C>G" "" "pathogenic" "" "0001065406" "0" "50" "11" "6643241" "6643242" "del" "0" "01804" "DCHS1_000395" "g.6643241_6643242del" "" "" "" "DCHS1(NM_003737.4):c.9668_9669del (p.(Thr3223Serfs*19))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001065407" "0" "50" "11" "6644598" "6644598" "subst" "0" "02325" "DCHS1_000396" "g.6644598C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes TPP1 ## Count = 1074 "{{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}}" "0000130003" "00021697" "70" "833" "0" "833" "0" "c.833A>C" "r.(?)" "p.(Gln278Pro)" "" "0000130004" "00021697" "90" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208*)" "" "0000166309" "00021697" "90" "1397" "0" "1397" "0" "c.1397T>G" "r.1397u>g" "p.Val466Gly" "11" "0000166310" "00021697" "90" "509" "-1" "509" "-1" "c.509-1G>C" "r.[508_509ins508+1_509-2insC, =]" "p.[Val170Glyfs*29, =]" "5i" "0000166311" "00021697" "90" "509" "-1" "509" "-1" "c.509-1G>C" "r.[508_509ins508+1_509-2insC, =]" "p.[Val170Glyfs*29, =]" "5i" "0000166312" "00021697" "90" "1397" "0" "1397" "0" "c.1397T>G" "r.1397u>g" "p.Val466Gly" "11" "0000166313" "00021697" "90" "509" "-1" "509" "-1" "c.509-1G>C" "r.[508_509ins508+1_509-2insC, =]" "p.[Val170Glyfs*29, =]" "5i" "0000166314" "00021697" "90" "1397" "0" "1397" "0" "c.1397T>G" "r.1397u>g" "p.Val466Gly" "11" "0000166315" "00021697" "90" "509" "-1" "509" "-1" "c.509-1G>C" "r.[508_509ins508+1_509-2insC, =]" "p.[Val170Glyfs*29, =]" "5i" "0000166316" "00021697" "90" "509" "-1" "509" "-1" "c.509-1G>C" "r.[508_509ins508+1_509-2insC, =]" "p.[Val170Glyfs*29, =]" "5i" "0000166317" "00021697" "90" "1397" "0" "1397" "0" "c.1397T>G" "r.1397u>g" "p.Val466Gly" "11" "0000166318" "00021697" "90" "1397" "0" "1397" "0" "c.1397T>G" "r.1397u>g" "p.Val466Gly" "11" "0000166319" "00021697" "90" "509" "-1" "509" "-1" "c.509-1G>C" "r.[508_509ins508+1_509-2insC, =]" "p.[Val170Glyfs*29, =]" "5i" "0000166320" "00021697" "90" "1397" "0" "1397" "0" "c.1397T>G" "r.1397u>g" "p.Val466Gly" "11" "0000166321" "00021697" "90" "509" "-1" "509" "-1" "c.509-1G>C" "r.[508_509ins508+1_509-2insC, =]" "p.[Val170Glyfs*29, =]" "5i" "0000166322" "00021697" "90" "1397" "0" "1397" "0" "c.1397T>G" "r.1397u>g" "p.Val466Gly" "11" "0000166323" "00021697" "90" "509" "-1" "509" "-1" "c.509-1G>C" "r.[508_509ins508+1_509-2insC, =]" "p.[Val170Glyfs*29, =]" "5i" "0000166324" "00021697" "90" "1397" "0" "1397" "0" "c.1397T>G" "r.1397u>g" "p.Val466Gly" "11" "0000166325" "00021697" "90" "509" "-1" "509" "-1" "c.509-1G>C" "r.[508_509ins508+1_509-2insC, =]" "p.[Val170Glyfs*29, =]" "5i" "0000166326" "00021697" "90" "1397" "0" "1397" "0" "c.1397T>G" "r.1397u>g" "p.Val466Gly" "11" "0000166327" "00021697" "50" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.?" "5i" "0000166328" "00021697" "50" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.?" "5i" "0000166329" "00021697" "50" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.?" "5i" "0000166330" "00021697" "50" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.?" "5i" "0000166331" "00021697" "50" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208*)" "6" "0000166332" "00021697" "50" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208*)" "6" "0000166333" "00021697" "50" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.?" "5i" "0000166334" "00021697" "50" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208*)" "6" "0000166335" "00021697" "50" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.?" "5i" "0000166336" "00021697" "50" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.?" "5i" "0000166337" "00021697" "50" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208*)" "6" "0000166338" "00021697" "50" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.?" "5i" "0000166339" "00021697" "50" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208*)" "6" "0000166340" "00021697" "50" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.?" "5i" "0000166341" "00021697" "50" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.?" "5i" "0000166342" "00021697" "50" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.?" "5i" "0000166343" "00021697" "50" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.?" "5i" "0000166344" "00021697" "50" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208*)" "6" "0000166345" "00021697" "50" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Gln66*)" "3" "0000166346" "00021697" "50" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Gln66*)" "3" "0000166347" "00021697" "50" "225" "0" "225" "0" "c.225A>G" "r.spl?" "p.(=)" "3" "0000166348" "00021697" "50" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.?" "5i" "0000166349" "00021697" "70" "229" "0" "229" "0" "c.229G>A" "r.(?)" "p.(Gly77Arg)" "3" "0000166350" "00021697" "50" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.?" "5i" "0000166351" "00021697" "10" "299" "0" "299" "0" "c.299A>G" "r.(?)" "p.(Gln100Arg)" "4" "0000166352" "00021697" "70" "1166" "0" "1166" "0" "c.1166G>A" "r.(?)" "p.(Gly389Glu)" "10" "0000166354" "00021697" "10" "299" "0" "299" "0" "c.299A>G" "r.(?)" "p.(Gln100Arg)" "4" "0000166356" "00021697" "70" "1166" "0" "1166" "0" "c.1166G>A" "r.(?)" "p.(Gly389Glu)" "10" "0000166357" "00021697" "50" "377" "0" "387" "0" "c.377_387del" "r.(?)" "p.(Ile126Argfs*8)" "4" "0000166358" "00021697" "50" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208*)" "6" "0000166359" "00021697" "50" "377" "0" "387" "0" "c.377_387del" "r.(?)" "p.(Ile126Argfs*8)" "4" "0000166360" "00021697" "50" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208*)" "6" "0000166361" "00021697" "50" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Arg127*)" "4" "0000166362" "00021697" "50" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208*)" "6" "0000166363" "00021697" "50" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.?" 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"p.(Asp328del)" "8" "0000166889" "00021697" "70" "1015" "0" "1015" "0" "c.1015C>T" "r.(?)" "p.(Arg339Trp)" "8" "0000166890" "00021697" "70" "1064" "0" "1064" "0" "c.1064T>C" "r.(?)" "p.(Leu355Pro)" "8" "0000166891" "00021697" "70" "1094" "0" "1094" "0" "c.1094G>A" "r.(?)" "p.(Cys365Tyr)" "9" "0000166892" "00021697" "70" "1424" "0" "1424" "0" "c.1424C>T" "r.(?)" "p.(Ser475Leu)" "11" "0000166893" "00021697" "70" "1439" "0" "1439" "0" "c.1439T>G" "r.(?)" "p.(Val480Gly)" "12" "0000166894" "00021697" "50" "1525" "0" "1525" "0" "c.1525C>T" "r.(?)" "p.(Gln509*)" "12" "0000166895" "00021697" "70" "1015" "0" "1015" "0" "c.1015C>T" "r.(?)" "p.(Arg339Trp)" "8" "0000166896" "00021697" "50" "1678" "0" "1679" "0" "c.1678_1679del" "r.(?)" "p.(Leu560Thrfs*47)" "13" "0000166897" "00021697" "50" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.?" "5i" "0000166898" "00021697" "50" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208*)" "6" "0000166899" "00021697" "50" "1525" "0" "1525" "0" "c.1525C>T" "r.(?)" "p.(Gln509*)" "12" "0000166900" "00021697" "70" "457" "0" "457" "0" "c.457T>C" "r.(?)" "p.(Ser153Pro)" "5" "0000166901" "00021697" "50" "1076" "-2" "1076" "-2" "c.1076-2A>G" "r.spl" "p.?" "8i" "0000166902" "00021697" "50" "1611" "0" "1621" "0" "c.1611_1621del" "r.(?)" "p.(Cys537Trpfs*67)" "13" "0000166903" "00021697" "70" "605" "0" "605" "0" "c.605C>T" "r.(?)" "p.(Pro202Leu)" "6" "0000166904" "00021697" "50" "380" "55" "380" "55" "c.380+55G>A" "r.(?)" "p.(=)" "4i" "0000166905" "00021697" "50" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.?" "5i" "0000166906" "00021697" "50" "380" "55" "380" "55" "c.380+55G>A" "r.(?)" "p.(=)" "4i" "0000166907" "00021697" "50" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.?" "5i" "0000166908" "00021697" "50" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.?" "5i" "0000166909" "00021697" "50" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.?" "5i" "0000166910" "00021697" "50" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.?" "5i" "0000166911" "00021697" "50" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.?" "5i" "0000166912" "00021697" "50" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.?" "5i" "0000166913" "00021697" "50" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.?" "5i" "0000166914" "00021697" "50" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.?" "5i" "0000166915" "00021697" "50" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.?" "5i" "0000166916" "00021697" "50" "524" "0" "524" "0" "c.524G>A" "r.(?)" "p.(Arg175His)" "6" "0000166917" "00021697" "50" "524" "0" "524" "0" "c.524G>A" "r.(?)" "p.(Arg175His)" "6" "0000166918" "00021697" "50" "0" "0" "0" "0" "c.1278A>?" "r.(?)" "p.(=)" "11" "0000166919" "00021697" "50" "89" "4" "89" "4" "c.89+4A>G" "r.spl?" "p.(?)" "2i" "0000166920" "00021697" "50" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Gln66*)" "3" "0000166921" "00021697" "90" "843" "0" "843" "0" "c.843G>T" "r.(?)" "p.(Met281Ile)" "7" "0000166922" "00021697" "50" "406" "0" "409" "0" "c.406_409dup" "r.(?)" "p.(Glu137Glyfs*2)" "5" "0000166923" "00021697" "50" "1548" "0" "1549" "0" "c.1548_1549insCATT" "r.(?)" "p.(Asp517Hisfs*2)" "12" "0000166924" "00021697" "50" "229" "0" "229" "0" "c.229G>T" "r.(?)" "p.(Gly77*)" "3" "0000166925" "00021697" "50" "381" "-17" "381" "-4" "c.381-17_381-4del" "r.spl?" "p.(=)" "4i" "0000166926" "00021697" "50" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208*)" "6" "0000166927" "00021697" "50" "640" "0" "640" "0" "c.640C>T" "r.(?)" "p.(Gln214*)" "6" "0000166928" "00021697" "50" "640" "0" "640" "0" "c.640C>T" "r.(?)" "p.(Gln214*)" "6" "0000166929" "00021697" "70" "650" "0" "650" "0" "c.650G>T" "r.(?)" "p.(Gly217Val)" "6" "0000166930" "00021697" "50" "177" "0" "180" "0" "c.177_180del" "r.(?)" "p.fs" "3" "0000166931" "00021697" "50" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.?" "5i" "0000166932" "00021697" "50" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208*)" "6" "0000166950" "00021697" "70" "1551" "0" "1551" "0" "c.1551T>A" "r.(?)" "p.(Asp517Glu)" "12" "0000166961" "00021697" "10" "1266" "5" "1266" "5" "c.1266+5G>A" "r.(?)" "p.(=)" "10i" "0000166962" "00021697" "10" "687" "32" "687" "32" "c.687+32T>C" "r.(?)" "p.(=)" "6i" "0000166963" "00021697" "10" "299" "0" "299" "0" "c.299A>G" "r.(?)" "p.(Gln100Arg)" "4" "0000166967" "00021697" "10" "-103" "0" "-103" "0" "c.-103G>A" "-" "-" "_1" "0000166968" "00021697" "10" "-122" "0" "-122" "0" "c.-122T>C" "-" "-" "_1" "0000166969" "00021697" "10" "-150" "0" "-150" "0" "c.-150G>A" "-" "-" "_1" "0000166970" "00021697" "10" "-238" "0" "-238" "0" "c.-238T>C" "-" "-" "_1" "0000166971" "00021697" "10" "1426" "-78" "1426" "-78" "c.1426-78T>C" "r.(?)" "p.(=)" "11i" "0000166972" "00021697" "10" "1426" "-64" "1426" "-64" "c.1426-64A>G" "r.(?)" "p.(=)" "11i" "0000166973" "00021697" "10" "2810" "0" "2810" "0" "c.*1118G>C" "r.(?)" "p.(=)" "13" "0000166974" "00021697" "50" "1076" "-18" "1076" "-18" "c.1076-18A>G" "r.(?)" "p.(=)" "8i" "0000166975" "00021697" "10" "1146" "-107" "1146" "-107" "c.1146-107C>G" "r.(?)" "p.(=)" "9i" "0000166976" "00021697" "10" "1542" "0" "1542" "0" "c.1542A>T" "r.(?)" "p.(Gly514=)" "12" "0000166977" "00021697" "50" "381" "-6" "381" "-6" "c.381-6C>T" "r.(?)" "p.(=)" "4i" "0000166978" "00021697" "10" "508" "26" "508" "26" "c.508+26T>A" "r.(?)" "p.(=)" "5i" "0000166979" "00021697" "10" "688" "-10" "688" "-10" "c.688-10C>T" "r.(?)" "p.(=)" "6i" "0000166980" "00021697" "10" "886" "17" "886" "17" "c.886+17T>C" "r.(?)" "p.(=)" "7i" "0000166981" "00021697" "10" "886" "41" "886" "41" "c.886+41G>C" "r.(?)" "p.(=)" "7i" "0000166982" "00021697" "10" "90" "-44" "90" "-44" "c.90-44C>T" "r.(?)" "p.(=)" "2i" "0000247007" "00021697" "10" "-4662" "0" "-4662" "0" "c.-4662T>G" "r.(?)" "p.(=)" "" "0000249756" "00021697" "50" "7149" "0" "7149" "0" "c.*5457T>G" "r.(=)" "p.(=)" "" "0000249845" "00021697" "50" "5778" "0" "5778" "0" "c.*4086T>C" "r.(=)" "p.(=)" "" "0000251494" "00021697" "10" "1075" "47" "1075" "47" "c.1075+47T>A" "r.(=)" "p.(=)" "" "0000251938" "00021697" "30" "6851" "0" "6851" "0" "c.*5159T>C" "r.(=)" "p.(=)" "" "0000251969" "00021697" "30" "7462" "0" "7462" "0" "c.*5770T>G" "r.(=)" "p.(=)" "" "0000252748" "00021697" "50" "7120" "0" "7120" "0" "c.*5428T>C" "r.(=)" "p.(=)" "" "0000253848" "00021697" "10" "6100" "0" "6100" "0" "c.*4408T>G" "r.(=)" "p.(=)" "" "0000255637" "00021697" "90" "1397" "0" "1397" "0" "c.1397T>G" "r.(?)" "p.(Val466Gly)" "" "0000265238" "00021697" "10" "-4578" "0" "-4578" "0" "c.-4578A>G" "r.(?)" "p.(=)" "" "0000265239" "00021697" "10" "-4437" "0" "-4437" "0" "c.-4437G>A" "r.(?)" "p.(=)" "" "0000265240" "00021697" "10" "-3969" "0" "-3969" "0" "c.-3969G>A" "r.(?)" "p.(=)" "" "0000265241" "00021697" "10" "-3796" "0" "-3796" "0" "c.-3796G>C" "r.(?)" "p.(=)" "" "0000265242" "00021697" "10" "-3677" "0" "-3677" "0" "c.-3677G>A" "r.(?)" "p.(=)" "" "0000265243" "00021697" "10" "-3639" "0" "-3639" "0" "c.-3639C>T" "r.(?)" "p.(=)" "" "0000265244" "00021697" "10" "-3345" "0" "-3345" "0" "c.-3345G>A" "r.(?)" "p.(=)" "" "0000265245" "00021697" "10" "-3033" "0" "-3033" "0" "c.-3033C>T" "r.(?)" "p.(=)" "" "0000267285" "00021697" "30" "-3518" "0" "-3518" "0" "c.-3518G>A" "r.(?)" "p.(=)" "" "0000268654" "00021697" "50" "-3833" "0" "-3833" "0" "c.-3833G>A" "r.(?)" "p.(=)" "" "0000274828" "00021697" "50" "-4894" "0" "-4894" "0" "c.-4894G>A" "r.(?)" "p.(=)" "" "0000274829" "00021697" "30" "-4738" "0" "-4738" "0" "c.-4738G>A" "r.(?)" "p.(=)" "" "0000274830" "00021697" "50" "-4090" "0" "-4090" "0" "c.-4090A>T" "r.(?)" "p.(=)" "" "0000274831" "00021697" "30" "-4083" "0" "-4083" "0" "c.-4083C>T" "r.(?)" "p.(=)" "" "0000274832" "00021697" "30" "-4055" "0" "-4055" "0" "c.-4055C>G" "r.(?)" "p.(=)" "" "0000274834" "00021697" "50" "-4010" "0" "-4010" "0" "c.-4010G>A" "r.(?)" "p.(=)" "" "0000274838" "00021697" "30" "-3680" "0" "-3680" "0" "c.-3680G>A" "r.(?)" "p.(=)" "" "0000274841" "00021697" "30" "-3304" "0" "-3304" "0" "c.-3304G>A" "r.(?)" "p.(=)" "" "0000274845" "00021697" "50" "-2871" "0" "-2871" "0" "c.-2871C>T" "r.(?)" "p.(=)" "" "0000281532" "00021697" "30" "6927" "0" "6927" "0" "c.*5235G>A" "r.(=)" "p.(=)" "" "0000281533" "00021697" "50" "6903" "0" "6903" "0" "c.*5211C>T" "r.(=)" "p.(=)" "" "0000281534" "00021697" "30" "6817" "0" "6817" "0" "c.*5125C>T" "r.(=)" "p.(=)" "" "0000281535" "00021697" "30" "6507" "0" "6507" "0" "c.*4815G>A" "r.(=)" "p.(=)" "" "0000281536" "00021697" "30" "6444" "0" "6444" "0" "c.*4752G>A" "r.(=)" "p.(=)" "" "0000285284" "00021697" "10" "6108" "0" "6108" "0" "c.*4416G>A" "r.(=)" "p.(=)" "" "0000285285" "00021697" "30" "6945" "0" "6945" "0" "c.*5253G>A" "r.(=)" "p.(=)" "" "0000285286" "00021697" "30" "6927" "0" "6927" "0" "c.*5235G>A" "r.(=)" "p.(=)" "" "0000289606" "00021697" "10" "6108" "0" "6108" "0" "c.*4416G>A" "r.(=)" "p.(=)" "" "0000289607" "00021697" "10" "7804" "0" "7804" "0" "c.*6112G>A" "r.(=)" "p.(=)" "" "0000289608" "00021697" "10" "7360" "0" "7360" "0" "c.*5668G>A" "r.(=)" "p.(=)" "" "0000289609" "00021697" "10" "6803" "0" "6803" "0" "c.*5111C>G" "r.(=)" "p.(=)" "" "0000289610" "00021697" "10" "6636" "0" "6636" "0" "c.*4944C>T" "r.(=)" "p.(=)" "" "0000289611" "00021697" "10" "6453" "0" "6453" "0" "c.*4761G>A" "r.(=)" "p.(=)" "" "0000312015" "00021697" "30" "1383" "0" "1383" "0" "c.1383G>A" "r.(?)" "p.(Val461=)" "" "0000312016" "00021697" "10" "1542" "0" "1542" "0" "c.1542A>T" "r.(?)" "p.(Gly514=)" "" "0000312017" "00021697" "50" "1598" "0" "1598" "0" "c.1598G>A" "r.(?)" "p.(Gly533Asp)" "" "0000312018" "00021697" "90" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl?" "p.?" "" "0000312019" "00021697" "90" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208Ter)" "" "0000312020" "00021697" "30" "840" "0" "840" "0" "c.840G>C" "r.(?)" "p.(Leu280=)" "" "0000312021" "00021697" "90" "851" "0" "851" "0" "c.851G>T" "r.(?)" "p.(Gly284Val)" "" "0000312022" "00021697" "10" "887" "-7" "887" "-6" "c.887-7_887-6del" "r.(=)" "p.(=)" "" "0000314803" "00021697" "70" "1016" "0" "1016" "0" "c.1016G>A" "r.(?)" "p.(Arg339Gln)" "" "0000314804" "00021697" "90" "1048" "0" "1048" "0" "c.1048C>T" "r.(?)" "p.(Arg350Trp)" "" "0000314805" "00021697" "10" "1117" "0" "1117" "0" "c.1117C>G" "r.(?)" "p.(Gln373Glu)" "" "0000314806" "00021697" "50" "1142" "0" "1142" "0" "c.1142C>G" "r.(?)" "p.(Ser381Cys)" "" "0000314807" "00021697" "30" "1266" "5" "1266" "5" "c.1266+5G>A" "r.spl?" "p.?" "" "0000314809" "00021697" "10" "887" "-8" "887" "-6" "c.887-8_887-6del" "r.(=)" "p.(=)" "" "0000314810" "00021697" "10" "887" "-7" "887" "-6" "c.887-7_887-6del" "r.(=)" "p.(=)" "" "0000314811" "00021697" "10" "887" "-6" "887" "-6" "c.887-6del" "r.(=)" "p.(=)" "" "0000316971" "00021697" "70" "1016" "0" "1016" "0" "c.1016G>A" "r.(?)" "p.(Arg339Gln)" "" "0000316972" "00021697" "10" "1117" "0" "1117" "0" "c.1117C>G" "r.(?)" "p.(Gln373Glu)" "" "0000316973" "00021697" "30" "122" "0" "122" "0" "c.122C>T" "r.(?)" "p.(Ala41Val)" "" "0000316974" "00021697" "10" "1542" "0" "1542" "0" "c.1542A>T" "r.(?)" "p.(Gly514=)" "" "0000316975" "00021697" "30" "1653" "0" "1653" "0" "c.1653C>G" "r.(?)" "p.(Pro551=)" "" "0000316976" "00021697" "50" "177" "0" "191" "0" "c.177_191del" "r.(?)" "p.(Arg60_Leu64del)" "" "0000316977" "00021697" "50" "194" "0" "196" "0" "c.194_196del" "r.(?)" "p.(Val65_Gln66delinsGlu)" "" "0000316978" "00021697" "30" "299" "0" "299" "0" "c.299A>G" "r.(?)" "p.(Gln100Arg)" "" "0000316979" "00021697" "90" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl?" "p.?" "" "0000316980" "00021697" "10" "553" "0" "553" "0" "c.553C>T" "r.(?)" "p.(Arg185Cys)" "" "0000316981" "00021697" "90" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208Ter)" "" "0000316982" "00021697" "30" "859" "0" "859" "0" "c.859A>G" "r.(?)" "p.(Ile287Val)" "" "0000316983" "00021697" "10" "887" "-6" "887" "-6" "c.887-6del" "r.(=)" "p.(=)" "" "0000316984" "00021697" "10" "887" "-7" "887" "-6" "c.887-7_887-6del" "r.(=)" "p.(=)" "" "0000322003" "00021697" "50" "1045" "0" "1045" "0" "c.1045G>A" "r.(?)" "p.(Ala349Thr)" "" "0000322004" "00021697" "50" "1033" "0" "1033" "0" "c.1033A>C" "r.(?)" "p.(Met345Leu)" "" "0000322005" "00021697" "90" "1016" "0" "1016" "0" "c.1016G>A" "r.(?)" "p.(Arg339Gln)" "" "0000322006" "00021697" "30" "887" "-8" "887" "-6" "c.887-8_887-6del" "r.(=)" "p.(=)" "" "0000322007" "00021697" "50" "887" "-7" "887" "-6" "c.887-7_887-6del" "r.(=)" "p.(=)" "" "0000322009" "00021697" "50" "289" "0" "289" "0" "c.289C>A" "r.(?)" "p.(His97Asn)" "" "0000322013" "00021697" "50" "-3392" "0" "-3392" "0" "c.-3392C>T" "r.(?)" "p.(=)" "" "0000322015" "00021697" "50" "-3500" "0" "-3500" "0" "c.-3500G>A" "r.(?)" "p.(=)" "" "0000322016" "00021697" "50" "-3541" "0" "-3541" "0" "c.-3541G>A" "r.(?)" "p.(=)" "" "0000322017" "00021697" "30" "-4007" "0" "-4007" "0" "c.-4007G>A" "r.(?)" "p.(=)" "" "0000322019" "00021697" "30" "-4891" "0" "-4891" "0" "c.-4891G>A" "r.(?)" "p.(=)" "" "0000344590" "00021697" "90" "481" "0" "481" "0" "c.481C>T" "r.(?)" "p.(Gln161Ter)" "" "0000345160" "00021697" "50" "7345" "0" "7345" "0" "c.*5653T>C" "r.(=)" "p.(=)" "" "0000347205" "00021697" "50" "1543" "0" "1543" "0" "c.1543C>T" "r.(?)" "p.(Leu515Phe)" "" "0000348217" "00021697" "50" "466" "0" "466" "0" "c.466C>A" "r.(?)" "p.(Pro156Thr)" "" "0000349419" "00021697" "50" "-3503" "0" "-3503" "0" "c.-3503A>C" "r.(?)" "p.(=)" "" "0000350459" "00021697" "50" "-3428" "0" "-3428" "0" "c.-3428G>C" "r.(?)" "p.(=)" "" "0000350715" "00021697" "50" "225" "0" "225" "0" "c.225A>G" "r.(?)" "p.(Gln75=)" "" "0000350764" "00021697" "90" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl?" "p.?" "" "0000437698" "00021697" "90" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.?" "5i" "0000437699" "00021697" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000437700" "00021697" "90" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.?" "5i" "0000437701" "00021697" "90" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.?" "5i" "0000437702" "00021697" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000437703" "00021697" "90" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.?" "5i" "0000437704" "00021697" "90" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208*)" "6" "0000437705" "00021697" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000437706" "00021697" "90" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208*)" "6" "0000437707" "00021697" "90" "1266" "0" "1266" "0" "c.1266G>C" "r.spl?" "p.(Gln422His)" "10" "0000437708" "00021697" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000437709" "00021697" "90" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.?" "5i" "0000437710" "00021697" "90" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208*)" "6" "0000437711" "00021697" "90" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.?" "5i" "0000437712" "00021697" "90" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208*)" "6" "0000437713" "00021697" "70" "225" "0" "225" "0" "c.225A>G" "r.spl?" "p.(=)" "3" "0000437714" "00021697" "90" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208*)" "6" "0000437715" "00021697" "70" "225" "0" "225" "0" "c.225A>G" "r.spl?" "p.(=)" "3" "0000437716" "00021697" "90" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208*)" "6" "0000437717" "00021697" "90" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208*)" "6" "0000437718" "00021697" "90" "827" "0" "827" "0" "c.827A>T" "r.(?)" "p.(Asp276Val)" "7" "0000437719" "00021697" "90" "827" "0" "827" "0" "c.827A>T" "r.(?)" "p.(Asp276Val)" "7" "0000437720" "00021697" "90" "827" "0" "827" "0" "c.827A>T" "r.(?)" "p.(Asp276Val)" "7" "0000437721" "00021697" "70" "1358" "0" "1358" "0" "c.1358C>T" "r.(?)" "p.(Ala453Val)" "11" "0000437722" "00021697" "90" "311" "0" "311" "0" "c.311T>A" "r.(?)" "p.(Leu104*)" "4" "0000437724" "00021697" "10" "687" "32" "687" "32" "c.687+32T>C" "r.(?)" "p.(=)" "6i" "0000437725" "00021697" "70" "1358" "0" "1358" "0" "c.1358C>T" "r.(?)" "p.(Ala453Val)" "11" "0000437726" "00021697" "90" "827" "0" "827" "0" "c.827A>T" "r.(?)" "p.(Asp276Val)" "7" "0000437727" "00021697" "90" "311" "0" "311" "0" "c.311T>A" "r.(?)" "p.(Leu104*)" "4" "0000437728" "00021697" "10" "687" "32" "687" "32" "c.687+32T>C" "r.(?)" "p.(=)" "6i" "0000437729" "00021697" "90" "827" "0" "827" "0" "c.827A>T" "r.(?)" "p.(Asp276Val)" "7" "0000437730" "00021697" "90" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208*)" "6" "0000437731" "00021697" "90" "827" "0" "827" "0" "c.827A>T" "r.(?)" "p.(Asp276Val)" "7" "0000437732" "00021697" "90" "827" "0" "827" "0" "c.827A>T" "r.(?)" "p.(Asp276Val)" "7" "0000437733" "00021697" "90" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208*)" "6" "0000437734" "00021697" "90" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.?" "5i" "0000437735" "00021697" "90" "827" "0" "827" "0" "c.827A>T" "r.(?)" "p.(Asp276Val)" "7" "0000437736" "00021697" "10" "687" "32" "687" "32" "c.687+32T>C" "r.(?)" "p.(=)" "6i" "0000437737" "00021697" "10" "687" "32" "687" "32" "c.687+32T>C" "r.(?)" "p.(=)" "6i" "0000437738" "00021697" "70" "1016" "0" "1016" "0" "c.1016G>A" "r.(?)" "p.(Arg339Gln)" "8" "0000437739" "00021697" "10" "508" "26" "508" "26" "c.508+26T>A" "r.(?)" "p.(=)" "5i" "0000437740" "00021697" "50" "887" "-10" "887" "-10" "c.887-10A>G" "r.spl" "p.(Gly296delinsGluAsnProGly)" "7i" "0000437741" "00021697" "90" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Gln66*)" "3" "0000437742" "00021697" "50" "887" "-10" "887" "-10" "c.887-10A>G" "r.spl" "p.(Gly296delinsGluAsnProGly)" "7i" "0000437743" "00021697" "90" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Gln66*)" "3" "0000437744" "00021697" "50" "887" "-10" "887" "-10" "c.887-10A>G" "r.spl" "p.(Gly296delinsGluAsnProGly)" "7i" "0000437745" "00021697" "90" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Gln66*)" "3" "0000437746" "00021697" "10" "1278" "0" "1278" "0" "c.1278A>B" "r.(?)" "p.(Val426=)" "11" "0000437747" "00021697" "30" "89" "4" "89" "4" "c.89+4A>G" "r.spl?" "p.(?)" "2i" "0000437748" "00021697" "90" "1107" "0" "1108" "0" "c.1107_1108del" "r.(?)" "p.(Gly370LysfsTer32)" "8i" "0000437749" "00021697" "90" "827" "0" "827" "0" "c.827A>T" "r.(?)" "p.(Asp276Val)" "7" "0000437750" "00021697" "10" "508" "26" "508" "26" "c.508+26T>A" "r.(?)" "p.(=)" "5i" "0000437751" "00021697" "10" "508" "26" "508" "26" "c.508+26T>A" "r.(?)" "p.(=)" "5i" "0000437752" "00021697" "10" "1075" "28" "1075" "28" "c.1075+28T>C" "r.(?)" "p.(=)" "8i" "0000437753" "00021697" "50" "887" "-10" "887" "-10" "c.887-10A>G" "r.spl" "p.(Gly296delinsGluAsnProGly)" "7i" "0000437754" "00021697" "70" "1424" "0" "1424" "0" "c.1424C>T" "r.(?)" "p.(Ser475Leu)" "11" "0000437755" "00021697" "50" "887" "-10" "887" "-10" "c.887-10A>G" "r.spl" "p.(Gly296delinsGluAsnProGly)" "7i" "0000437756" "00021697" "90" "827" "0" "827" "0" "c.827A>T" "r.(?)" "p.(Asp276Val)" "7" "0000437757" "00021697" "70" "1048" "0" "1048" "0" "c.1048C>T" "r.(?)" "p.(Arg350Trp)" "8" "0000437758" "00021697" "70" "1603" "0" "1603" "0" "c.1603G>C" "r.(?)" "p.(Gly535Arg)" "13" "0000437759" "00021697" "10" "508" "26" "508" "26" "c.508+26T>A" "r.(?)" "p.(=)" "5i" "0000437760" "00021697" "10" "1075" "42" "1075" "42" "c.1075+42C>T" "r.(?)" "p.(=)" "8i" "0000437761" "00021697" "10" "687" "32" "687" "32" "c.687+32T>C" "r.(?)" "p.(=)" "6i" "0000437762" "00021697" "10" "1542" "0" "1542" "0" "c.1542A>T" "r.(?)" "p.(=)" "12i" "0000437763" "00021697" "70" "1048" "0" "1048" "0" "c.1048C>T" "r.(?)" "p.(Arg350Trp)" "8" "0000437764" "00021697" "70" "1603" "0" "1603" "0" "c.1603G>C" "r.(?)" "p.(Gly535Arg)" "13" "0000437765" "00021697" "90" "89" "5" "89" "5" "c.89+5G>C" "r.spl" "p.?" "2i" "0000437766" "00021697" "70" "1358" "0" "1358" "0" "c.1358C>A" "r.(?)" "p.(Ala453Asp)" "11" "0000437767" "00021697" "10" "1416" "0" "1416" "0" "c.1416C>T" "r.(?)" "p.(Ser472=)" "11" "0000437768" "00021697" "10" "508" "26" "508" "26" "c.508+26T>A" "r.(?)" "p.(=)" "5i" "0000437769" "00021697" "90" "89" "5" "89" "5" "c.89+5G>C" "r.spl" "p.?" "2i" "0000437770" "00021697" "70" "1358" "0" "1358" "0" "c.1358C>A" "r.(?)" "p.(Ala453Asp)" "11" "0000437771" "00021697" "10" "1416" "0" "1416" "0" "c.1416C>T" "r.(?)" "p.(Ser472=)" "11" "0000437772" "00021697" "10" "1416" "0" "1416" "0" "c.1416C>T" "r.(?)" "p.(Ser472=)" "11" "0000437773" "00021697" "50" "887" "-10" "887" "-10" "c.887-10A>G" "r.spl" "p.(Gly296delinsGluAsnProGly)" "7i" "0000437774" "00021697" "90" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208*)" "6" "0000437775" "00021697" "50" "887" "-10" "887" "-10" "c.887-10A>G" "r.spl" "p.(Gly296delinsGluAsnProGly)" "7i" "0000437776" "00021697" "90" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208*)" "6" "0000437777" "00021697" "90" "1340" "0" "1340" "0" "c.1340G>A" "r.(?)" "p.(Arg447His)" "11" "0000437778" "00021697" "70" "1424" "0" "1424" "0" "c.1424C>T" "r.(?)" "p.(Ser475Leu)" "11" "0000437779" "00021697" "90" "1076" "-2" "1076" "-2" "c.1076-2A>T" "r.spl" "p.?" "8i" "0000437780" "00021697" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000437781" "00021697" "70" "824" "0" "824" "0" "c.824T>C" "r.(?)" "p.(Leu275Pro)" "7" "0000437782" "00021697" "90" "337" "0" "337" "0" "c.337dup" "r.(?)" "p.(Ser113Phefs*55)" "4" "0000437783" "00021697" "90" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208*)" "6" "0000437784" "00021697" "50" "1239" "0" "1240" "0" "c.1239_1240ins(6)" "r.(?)" "p.?" "10" "0000437785" "00021697" "90" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.?" "5i" "0000437786" "00021697" "70" "229" "3" "229" "3" "c.229+3G>C" "r.spl" "p.?" "3i" "0000437787" "00021697" "90" "1467" "0" "1467" "0" "c.1467del" "r.(?)" "p.(Asn489Lysfs*29)" "12" "0000437788" "00021697" "90" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.?" "5i" "0000437789" "00021697" "70" "1048" "0" "1048" "0" "c.1048C>T" "r.(?)" "p.(Arg350Trp)" "8" "0000437790" "00021697" "90" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.?" "5i" "0000437791" "00021697" "90" "1340" "0" "1340" "0" "c.1340G>A" "r.(?)" "p.(Arg447His)" "11" "0000437792" "00021697" "90" "790" "0" "790" "0" "c.790C>T" "r.(?)" "p.(Gln264*)" "7" "0000437793" "00021697" "90" "1340" "0" "1340" "0" "c.1340G>A" "r.(?)" "p.(Arg447His)" "11" "0000437794" "00021697" "90" "790" "0" "790" "0" "c.790C>T" "r.(?)" "p.(Gln264*)" "7" "0000437795" "00021697" "90" "1340" "0" "1340" "0" "c.1340G>A" "r.(?)" "p.(Arg447His)" "11" "0000437796" "00021697" "90" "790" "0" "790" "0" "c.790C>T" "r.(?)" "p.(Gln264*)" "7" "0000437797" "00021697" "90" "89" "1" "89" "1" "c.89+1G>A" "r.spl" "p.?" "2i" "0000437798" "00021697" "90" "1551" "1" "1551" "1" "c.1551+1G>T" "r.spl" "p.?" "12i" "0000437799" "00021697" "70" "1613" "0" "1613" "0" "c.1613C>A" "r.(?)" "p.(Ser538Tyr)" "13" "0000437800" "00021697" "70" "1226" "0" "1226" "0" "c.1226G>T" "r.(?)" "p.(Gly409Val)" "10" "0000437801" "00021697" "90" "1626" "0" "1626" "0" "c.1626G>A" "r.(?)" "p.(Trp542*)" "13" "0000437802" "00021697" "90" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.?" "5i" "0000437803" "00021697" "90" "1029" "0" "1029" "0" "c.1029G>C" "r.(?)" "p.(Glu343Asp)" "8" "0000437804" "00021697" "90" "1340" "0" "1340" "0" "c.1340G>A" "r.(?)" "p.(Arg447His)" "11" "0000437805" "00021697" "90" "1525" "0" "1525" "0" "c.1525C>T" "r.(?)" "p.(Gln509*)" "12" "0000437806" "00021697" "70" "887" "0" "887" "0" "c.887G>A" "r.(?)" "p.(Gly296Asp)" "8" "0000437807" "00021697" "70" "1052" "0" "1052" "0" "c.1052G>T" "r.(?)" "p.(Gly351Val)" "8" "0000437808" "00021697" "70" "1444" "0" "1444" "0" "c.1444G>C" "r.(?)" "p.(Gly482Arg)" "12" "0000437809" "00021697" "90" "616" "0" "616" "0" "c.616C>T" "r.(?)" "p.(Arg206Cys)" "6" "0000437810" "00021697" "90" "616" "0" "616" "0" "c.616C>T" "r.(?)" "p.(Arg206Cys)" "6" "0000437811" "00021697" "70" "1376" "0" "1376" "0" "c.1376A>C" "r.(?)" "p.(Tyr459Ser)" "11" "0000437812" "00021697" "70" "1376" "0" "1376" "0" "c.1376A>C" "r.(?)" "p.(Tyr459Ser)" "11" "0000437813" "00021697" "90" "1547" "0" "1548" "0" "c.1547_1548del" "r.(?)" "p.(Phe516*)" "12" "0000437814" "00021697" "90" "616" "0" "616" "0" "c.616C>T" "r.(?)" "p.(Arg206Cys)" "6" "0000437815" "00021697" "90" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208*)" "6" "0000437816" "00021697" "90" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.?" "5i" "0000437817" "00021697" "90" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208*)" "6" "0000437818" "00021697" "70" "38" "0" "38" "0" "c.38T>C" "r.(?)" "p.(Leu13Pro)" "2" "0000437819" "00021697" "90" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208*)" "6" "0000437820" "00021697" "50" "887" "-10" "887" "-10" "c.887-10A>G" "r.spl" "p.(Gly296delinsGluAsnProGly)" "7i" "0000437821" "00021697" "50" "1049" "0" "1049" "0" "c.1049G>A" "r.(?)" "p.(Arg350Gln)" "8" "0000437822" "00021697" "90" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.?" "5i" "0000437823" "00021697" "90" "380" "0" "380" "0" "c.380G>A" "r.(?)" "p.(Arg127Gln)" "4" "0000437824" "00021697" "90" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.?" "5i" "0000437825" "00021697" "70" "1015" "0" "1015" "0" "c.1015C>T" "r.(?)" "p.(Arg339Trp)" "8" "0000437826" "00021697" "70" "731" "0" "731" "0" "c.731T>C" "r.(?)" "p.(Met244Thr)" "7" "0000437827" "00021697" "90" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208*)" "6" "0000437828" "00021697" "70" "1261" "0" "1261" "0" "c.1261T>A" "r.(?)" "p.(Tyr421Asn)" "10" "0000437829" "00021697" "90" "1076" "-2" "1076" "-2" "c.1076-2A>T" "r.spl" "p.?" "8i" "0000437830" "00021697" "50" "887" "-10" "887" "-10" "c.887-10A>G" "r.spl" "p.(Gly296delinsGluAsnProGly)" "7i" "0000437831" "00021697" "70" "1015" "0" "1015" "0" "c.1015C>T" "r.(?)" "p.(Arg339Trp)" "8" "0000437832" "00021697" "50" "959" "0" "959" "0" "c.959T>G" "r.(?)" "p.(Val320Gly)" "8" "0000437833" "00021697" "90" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.?" "5i" "0000437834" "00021697" "50" "139" "0" "139" "0" "c.139C>G" "r.(?)" "p.(Leu47Val)" "3" "0000437835" "00021697" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000437836" "00021697" "90" "481" "0" "481" "0" "c.481C>T" "r.(?)" "p.(Gln161*)" "5" "0000437837" "00021697" "70" "1351" "0" "1351" "0" "c.1351G>T" "r.(?)" "p.(Asp451Tyr)" "11" "0000437838" "00021697" "70" "1351" "0" "1351" "0" "c.1351G>T" "r.(?)" "p.(Asp451Tyr)" "11" "0000437839" "00021697" "90" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.?" "5i" "0000437840" "00021697" "70" "1058" "0" "1058" "0" "c.1058C>A" "r.(?)" "p.(Thr353Asn)" "8" "0000437841" "00021697" "90" "89" "5" "89" "5" "c.89+5G>C" "r.spl" "p.?" "2i" "0000437842" "00021697" "90" "1340" "0" "1340" "0" "c.1340G>A" "r.(?)" "p.(Arg447His)" "11" "0000545106" "00021697" "50" "8189" "0" "8189" "0" "c.*6497C>T" "r.(=)" "p.(=)" "" "0000545120" "00021697" "10" "7440" "0" "7440" "0" "c.*5748del" "r.(?)" "p.(=)" "" "0000545121" "00021697" "30" "7440" "0" "7440" "0" "c.*5748del" "r.(?)" "p.(=)" "" "0000545122" "00021697" "50" "7345" "0" "7345" "0" "c.*5653T>C" "r.(=)" "p.(=)" "" "0000545123" "00021697" "30" "7285" "0" "7285" "0" "c.*5593G>A" "r.(=)" "p.(=)" "" "0000545124" "00021697" "50" "7282" "0" "7282" "0" "c.*5590C>T" "r.(=)" "p.(=)" "" "0000545125" "00021697" "50" "7149" "0" "7149" "0" "c.*5457T>G" "r.(=)" "p.(=)" "" "0000545126" "00021697" "50" "7105" "0" "7105" "0" "c.*5413G>A" "r.(=)" "p.(=)" "" "0000545127" "00021697" "10" "7059" "0" "7059" "0" "c.*5367A>G" "r.(=)" "p.(=)" "" "0000545128" "00021697" "30" "6927" "0" "6927" "0" "c.*5235G>A" "r.(=)" "p.(=)" "" "0000545129" "00021697" "50" "6837" "0" "6837" "0" "c.*5145G>A" "r.(=)" "p.(=)" "" "0000545130" "00021697" "50" "6837" "0" "6837" "0" "c.*5145G>A" "r.(=)" "p.(=)" "" "0000545131" "00021697" "50" "6637" "0" "6637" "0" "c.*4945G>A" "r.(=)" "p.(=)" "" "0000545132" "00021697" "10" "6526" "0" "6526" "0" "c.*4834C>T" "r.(=)" "p.(=)" "" "0000545133" "00021697" "30" "6409" "0" "6409" "0" "c.*4717T>C" "r.(=)" "p.(=)" "" "0000545134" "00021697" "50" "6409" "0" "6409" "0" "c.*4717T>C" "r.(=)" "p.(=)" "" "0000545135" "00021697" "30" "6235" "0" "6235" "0" "c.*4543C>T" "r.(=)" "p.(=)" "" "0000545136" "00021697" "50" "6235" "0" "6235" "0" "c.*4543C>T" "r.(=)" "p.(=)" "" "0000545137" "00021697" "30" "6100" "0" "6100" "0" "c.*4408T>G" "r.(=)" "p.(=)" "" "0000545141" "00021697" "30" "4119" "0" "4119" "0" "c.*2427C>T" "r.(=)" "p.(=)" "" "0000545148" "00021697" "30" "1552" "-9" "1552" "-9" "c.1552-9C>T" "r.(=)" "p.(=)" "" "0000545149" "00021697" "30" "1543" "0" "1543" "0" "c.1543C>T" "r.(?)" "p.(Leu515Phe)" "" "0000545151" "00021697" "50" "1480" "0" "1480" "0" "c.1480C>T" "r.(?)" "p.(Leu494Phe)" "" "0000545152" "00021697" "30" "1426" "-6" "1426" "-6" "c.1426-6T>C" "r.(=)" "p.(=)" "" "0000545153" "00021697" "10" "1426" "-64" "1426" "-64" "c.1426-64A>G" "r.(=)" "p.(=)" "" "0000545154" "00021697" "70" "1397" "0" "1397" "0" "c.1397T>G" "r.(?)" "p.(Val466Gly)" "" "0000545156" "00021697" "50" "1328" "0" "1328" "0" "c.1328A>G" "r.(?)" "p.(Asn443Ser)" "" "0000545157" "00021697" "30" "1266" "5" "1266" "5" "c.1266+5G>A" "r.spl?" "p.?" "" "0000545158" "00021697" "10" "1253" "0" "1253" "0" "c.1253G>A" "r.(?)" "p.(Arg418Gln)" "" "0000545159" "00021697" "50" "1252" "0" "1252" "0" "c.1252C>T" "r.(?)" "p.(Arg418Trp)" "" "0000545160" "00021697" "50" "1142" "0" "1142" "0" "c.1142C>G" "r.(?)" "p.(Ser381Cys)" "" "0000545161" "00021697" "50" "1069" "0" "1069" "0" "c.1069G>A" "r.(?)" "p.(Ala357Thr)" "" "0000545162" "00021697" "10" "1033" "0" "1033" "0" "c.1033A>C" "r.(?)" "p.(Met345Leu)" "" "0000545163" "00021697" "50" "887" "-9" "887" "-6" "c.887-9_887-6del" "r.(=)" "p.(=)" "" "0000545164" "00021697" "30" "887" "-6" "887" "-6" "c.887-6del" "r.(=)" "p.(=)" "" "0000545165" "00021697" "30" "688" "-7" "688" "-7" "c.688-7T>A" "r.(=)" "p.(=)" "" "0000545167" "00021697" "90" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208Ter)" "" "0000545168" "00021697" "90" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl?" "p.?" "" "0000545169" "00021697" "90" "509" "-1" "509" "-1" "c.509-1G>A" "r.spl?" "p.?" "" "0000545170" "00021697" "10" "381" "-10" "381" "-10" "c.381-10dup" "r.(=)" "p.(=)" "" "0000545171" "00021697" "90" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Arg127Ter)" "" "0000545172" "00021697" "30" "299" "0" "299" "0" "c.299A>G" "r.(?)" "p.(Gln100Arg)" "" "0000545173" "00021697" "30" "293" "0" "293" "0" "c.293C>T" "r.(?)" "p.(Thr98Met)" "" "0000545174" "00021697" "30" "293" "0" "293" "0" "c.293C>T" "r.(?)" "p.(Thr98Met)" "" "0000545176" "00021697" "30" "14" "0" "14" "0" "c.14C>A" "r.(?)" "p.(Ala5Asp)" "" "0000545177" "00021697" "30" "-2426" "0" "-2426" "0" "c.-2426G>A" "r.(?)" "p.(=)" "" "0000545178" "00021697" "30" "-2667" "0" "-2667" "0" "c.-2667C>G" "r.(?)" "p.(=)" "" "0000545180" "00021697" "50" "-2945" "0" "-2945" "0" "c.-2945G>A" "r.(?)" "p.(=)" "" "0000545181" "00021697" "50" "-2981" "0" "-2981" "0" "c.-2981C>T" "r.(?)" "p.(=)" "" "0000545182" "00021697" "50" "-3122" "0" "-3122" "0" "c.-3122C>T" "r.(?)" "p.(=)" "" "0000545183" "00021697" "50" "-3392" "0" "-3392" "0" "c.-3392C>T" "r.(?)" "p.(=)" "" "0000545184" "00021697" "50" "-3518" "0" "-3518" "0" "c.-3518G>A" "r.(?)" "p.(=)" "" "0000545186" "00021697" "30" "-3639" "0" "-3639" "0" "c.-3639C>T" "r.(?)" "p.(=)" "" "0000545187" "00021697" "30" "-3677" "0" "-3677" "0" "c.-3677G>A" "r.(?)" "p.(=)" "" "0000545190" "00021697" "30" "-3833" "0" "-3833" "0" "c.-3833G>A" "r.(?)" "p.(=)" "" "0000545191" "00021697" "30" "-4012" "0" "-4012" "0" "c.-4012G>A" "r.(?)" "p.(=)" "" "0000545192" "00021697" "30" "-4080" "0" "-4080" "0" "c.-4080C>T" "r.(?)" "p.(=)" "" "0000545197" "00021697" "30" "-4828" "0" "-4828" "0" "c.-4828C>T" "r.(?)" "p.(=)" "" "0000545198" "00021697" "30" "-4828" "0" "-4828" "0" "c.-4828C>T" "r.(?)" "p.(=)" "" "0000545200" "00021697" "50" "-4837" "0" "-4837" "0" "c.-4837C>T" "r.(?)" "p.(=)" "" "0000545202" "00021697" "10" "-4891" "0" "-4891" "0" "c.-4891G>A" "r.(?)" "p.(=)" "" "0000545203" "00021697" "50" "-4891" "0" "-4891" "0" "c.-4891G>A" "r.(?)" "p.(=)" "" "0000613587" "00021697" "50" "7355" "0" "7355" "0" "c.*5663C>G" "r.(=)" "p.(=)" "" "0000613588" "00021697" "50" "7337" "0" "7337" "0" "c.*5645C>T" "r.(=)" "p.(=)" "" "0000613589" "00021697" "30" "5780" "0" "5780" "0" "c.*4088C>T" "r.(=)" "p.(=)" "" "0000613592" "00021697" "30" "1218" "0" "1218" "0" "c.1218T>C" "r.(?)" "p.(Tyr406=)" "" "0000613593" "00021697" "10" "1075" "28" "1075" "28" "c.1075+28T>C" "r.(=)" "p.(=)" "" "0000613595" "00021697" "30" "185" "0" "185" "0" "c.185C>T" "r.(?)" "p.(Ser62Leu)" "" "0000613596" "00021697" "50" "119" "0" "119" "0" "c.119G>A" "r.(?)" "p.(Arg40His)" "" "0000613597" "00021697" "50" "-2479" "0" "-2479" "0" "c.-2479C>T" "r.(?)" "p.(=)" "" "0000613598" "00021697" "50" "-2911" "0" "-2911" "0" "c.-2911G>A" "r.(?)" "p.(=)" "" "0000613599" "00021697" "50" "-3179" "0" "-3179" "0" "c.-3179C>T" "r.(?)" "p.(=)" "" "0000622684" "00021697" "50" "6837" "0" "6837" "0" "c.*5145G>A" "r.(=)" "p.(=)" "" "0000622686" "00021697" "50" "542" "0" "542" "0" "c.542C>T" "r.(?)" "p.(Ser181Phe)" "" "0000622688" "00021697" "70" "89" "5" "89" "5" "c.89+5G>C" "r.spl?" "p.?" "" "0000622689" "00021697" "50" "-4477" "0" "-4477" "0" "c.-4477C>T" "r.(?)" "p.(=)" "" "0000648341" "00021697" "70" "1424" "0" "1424" "0" "c.1424C>T" "r.(?)" "p.(Ser475Leu)" "" "0000648342" "00021697" "70" "1379" "0" "1379" "0" "c.1379G>A" "r.(?)" "p.(Trp460*)" "" "0000648343" "00021697" "90" "1340" "0" "1340" "0" "c.1340G>A" "r.(?)" "p.(Arg447His)" "" "0000648345" "00021697" "90" "1093" "0" "1093" "0" "c.1093T>C" "r.(?)" "p.(Cys365Arg)" "" "0000648346" "00021697" "70" "845" "0" "845" "0" "c.845G>A" "r.(?)" "p.(Ser282Asn)" "" "0000648348" "00021697" "90" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208*)" "" "0000648349" "00021697" "90" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Arg127*)" "" "0000656864" "00021697" "50" "8116" "0" "8116" "0" "c.*6424C>A" "r.(=)" "p.(=)" "" "0000656869" "00021697" "30" "-4233" "0" "-4233" "0" "c.-4233C>T" "r.(?)" "p.(=)" "" "0000667567" "00021697" "90" "311" "0" "311" "0" "c.311T>A" "r.(?)" "p.(Leu104*)" "" "0000667569" "00021697" "90" "1266" "0" "1266" "0" "c.1266G>C" "r.(?)" "p.(Gln422His)" "" "0000667596" "00021697" "90" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.?" "" "0000667597" "00021697" "90" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208*)" "" "0000679277" "00021697" "50" "8126" "0" "8126" "0" "c.*6434A>T" "r.(=)" "p.(=)" "" "0000679278" "00021697" "50" "8093" "0" "8093" "0" "c.*6401T>G" "r.(=)" "p.(=)" "" "0000679279" "00021697" "30" "7549" "0" "7549" "0" "c.*5857G>C" "r.(=)" "p.(=)" "" "0000679280" "00021697" "50" "7337" "0" "7337" "0" "c.*5645C>T" "r.(=)" "p.(=)" "" "0000679281" "00021697" "50" "6235" "0" "6235" "0" "c.*4543C>T" "r.(=)" "p.(=)" "" "0000679282" "00021697" "50" "6083" "0" "6083" "0" "c.*4391C>G" "r.(=)" "p.(=)" "" "0000679283" "00021697" "50" "6033" "0" "6033" "0" "c.*4341G>A" "r.(=)" "p.(=)" "" "0000679284" "00021697" "30" "1494" "0" "1494" "0" "c.1494C>T" "r.(?)" "p.(Pro498=)" "" "0000679285" "00021697" "90" "1397" "0" "1397" "0" "c.1397T>G" "r.(?)" "p.(Val466Gly)" "" "0000679286" "00021697" "30" "42" "0" "42" "0" "c.42C>A" "r.(?)" "p.(Ile14=)" "" "0000679287" "00021697" "30" "-2442" "0" "-2442" "0" "c.-2442A>G" "r.(?)" "p.(=)" "" "0000679288" "00021697" "30" "-2478" "0" "-2478" "0" "c.-2478C>T" "r.(?)" "p.(=)" "" "0000679289" "00021697" "50" "-3007" "0" "-3007" "0" "c.-3007A>T" "r.(?)" "p.(=)" "" "0000683445" "00021697" "90" "1145" "2" "1145" "2" "c.1145+2T>G" "r.spl?" "p.?" "9" "0000683446" "00021697" "90" "1266" "1" "1266" "1" "c.1266+1G>C" "r.spl?" "p.?" "10i" "0000683447" "00021697" "90" "1444" "0" "1444" "0" "c.1444G>A" "r.(?)" "p.(Gly482Arg)" "12" "0000683448" "00021697" "70" "163" "0" "163" "0" "c.163C>T" "r.(?)" "p.(Gln55*)" "3" "0000683449" "00021697" "90" "1663" "0" "1663" "0" "c.1663del" "r.(?)" "p.(Ala555Leufs*3)" "13" "0000683453" "00021697" "70" "528" "0" "528" "0" "c.528del" "r.(?)" "p.(Pro178Glnfs*5)" "6" "0000683454" "00021697" "90" "617" "0" "617" "0" "c.617G>C" "r.(?)" "p.(Arg206Pro)" "6" "0000683455" "00021697" "90" "729" "0" "729" "0" "c.729C>G" "r.(?)" "p.(Phe243Leu)" "7" "0000683456" "00021697" "70" "802" "0" "802" "0" "c.802del" "r.(?)" "p.(Arg268Glyfs*8)" "7" "0000683457" "00021697" "70" "90" "1" "886" "1" "c.(89-1_90+1)_(886+1_887-1)del" "r.?" "p.?" "2i_7i" "0000691133" "00021697" "50" "6868" "0" "6871" "0" "c.*5176_*5179del" "r.(=)" "p.(=)" "" "0000691136" "00021697" "90" "237" "0" "237" "0" "c.237C>A" "r.(?)" "p.(Tyr79Ter)" "" "0000691138" "00021697" "30" "-3518" "0" "-3518" "0" "c.-3518G>A" "r.(?)" "p.(=)" "" "0000691139" "00021697" "50" "-4667" "0" "-4667" "0" "c.-4667C>T" "r.(?)" "p.(=)" "" "0000691140" "00021697" "30" "-5004" "0" "-5004" "0" "c.-5004C>T" "r.(?)" "p.(=)" "" "0000723607" "00021697" "30" "7819" "0" "7819" "0" "c.*6127A>G" "r.(=)" "p.(=)" "" "0000723611" "00021697" "30" "1396" "0" "1396" "0" "c.1396G>A" "r.(?)" "p.(Val466Met)" "" "0000723612" "00021697" "70" "1015" "0" "1015" "0" "c.1015C>T" "r.(?)" "p.(Arg339Trp)" "" "0000723613" "00021697" "50" "511" "0" "511" "0" "c.511G>A" "r.(?)" "p.(Gly171Arg)" "" "0000723614" "00021697" "90" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl?" "p.?" "" "0000723615" "00021697" "50" "-3886" "0" "-3886" "0" "c.-3886T>C" "r.(?)" "p.(=)" "" "0000734446" "00021697" "50" "1091" "0" "1091" "0" "c.1091G>A" "r.(?)" "p.(Gly364Glu)" "" "0000763112" "00021697" "90" "1551" "1" "1551" "1" "c.1551+1G>A" "r.spl" "p.?" "" "0000787071" "00021697" "90" "496" "0" "496" "0" "c.496dup" "r.(?)" "p.(His166ProfsTer22)" "5" "0000787072" "00021697" "90" "1146" "-1" "1146" "-1" "c.1146-1G>A" "r.spl" "p.?" "9i" "0000787073" "00021697" "70" "1264" "0" "1264" "0" "c.1264C>T" "r.(?)" "p.(Gln422Ter)" "10" "0000787419" "00021697" "50" "90" "-8" "90" "-8" "c.90-8C>G" "r.spl" "p.?" "2i" "0000787420" "00021697" "50" "1222" "0" "1224" "0" "c.1222_1224del" "r.(?)" "p.(Ser408del)" "10" "0000787532" "00021697" "90" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208Ter)" "6" "0000805290" "00021697" "50" "6911" "0" "6911" "0" "c.*5219T>C" "r.(=)" "p.(=)" "" "0000805291" "00021697" "50" "5638" "0" "5638" "0" "c.*3946G>T" "r.(=)" "p.(=)" "" "0000805294" "00021697" "30" "1426" "-10" "1426" "-10" "c.1426-10A>G" "r.(=)" "p.(=)" "" "0000805295" "00021697" "70" "1016" "0" "1016" "0" "c.1016G>A" "r.(?)" "p.(Arg339Gln)" "" "0000805296" "00021697" "50" "796" "0" "796" "0" "c.796C>T" "r.(?)" "p.(Arg266Trp)" "" "0000805297" "00021697" "90" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl?" "p.?" "" "0000805298" "00021697" "30" "101" "0" "101" "0" "c.101G>A" "r.(?)" "p.(Gly34Asp)" "" "0000805299" "00021697" "30" "-3033" "0" "-3033" "0" "c.-3033C>T" "r.(?)" "p.(=)" "" "0000805300" "00021697" "50" "-3833" "0" "-3833" "0" "c.-3833G>A" "r.(?)" "p.(=)" "" "0000805301" "00021697" "30" "-3954" "0" "-3954" "0" "c.-3954C>T" "r.(?)" "p.(=)" "" "0000811460" "00021697" "70" "1424" "0" "1424" "0" "c.1424C>T" "r.(?)" "p.(Ser475Leu)" "" "0000811461" "00021697" "70" "229" "0" "229" "0" "c.229G>C" "r.(?)" "p.(Gly77Arg)" "" "0000811462" "00021697" "70" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208*)" "" "0000811463" "00021697" "70" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Gln66*)" "" "0000811464" "00021697" "70" "509" "-1" "509" "-1" "c.509-1G>C" "r.(?)" "p.[Phe169*,Val170Glyfs*29,Gly171Thrfs*5]" "" "0000811465" "00021697" "70" "1471" "0" "1471" "0" "c.1471del" "r.(?)" "p.(His491Thrfs*28)" "" "0000811466" "00021697" "70" "1015" "0" "1015" "0" "c.1015C>T" "r.(?)" "p.(Arg339Trp)" "" "0000811467" "00021697" "70" "225" "0" "225" "0" "c.225A>G" "r.(?)" "p.(Gln75=)" "" "0000811468" "00021697" "70" "225" "0" "225" "0" "c.225A>G" "r.(?)" "p.(Gln75=)" "" "0000811476" "00021697" "70" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208*)" "" "0000811477" "00021697" "70" "509" "-1" "509" "-1" "c.509-1G>A" "r.(?)" "p.[Phe169*,Val170Glyfs*29,Gly171Thrfs*5]" "" "0000811478" "00021697" "70" "1593" "0" "1593" "0" "c.1593dup" "r.(?)" "p.(Glu532Argfs*76)" "" "0000812850" "00021697" "90" "1551" "1" "1551" "2" "c.1551+1_1551+2insTGAT" "r.spl" "p.(?)" "" "0000812874" "00021697" "70" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.(?)" "" "0000812875" "00021697" "70" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.(?)" "" "0000812898" "00021697" "70" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.(?)" "" "0000812899" "00021697" "70" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208*)" "" "0000812900" "00021697" "70" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.(?)" "" "0000812901" "00021697" "70" "1064" "0" "1064" "0" "c.1064T>C" "r.(?)" "p.(Leu355Pro)" "" "0000812902" "00021697" "70" "509" "-1" "509" "-1" "c.509-1G>C" "r.spl" "p.(?)" "" "0000812903" "00021697" "70" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208*)" "" "0000812904" "00021697" "70" "229" "0" "229" "0" "c.229G>C" "r.(?)" "p.(Gly77Arg)" "" "0000812905" "00021697" "70" "229" "0" "229" "0" "c.229G>C" "r.(?)" "p.(Gly77Arg)" "" "0000818613" "00021697" "70" "622" "0" "622" "0" "c.622C>T" "r.(?)" "(p.Arg208*)" "" "0000853097" "00021697" "30" "6945" "0" "6945" "0" "c.*5253G>A" "r.(=)" "p.(=)" "" "0000853098" "00021697" "50" "6911" "0" "6911" "0" "c.*5219T>C" "r.(=)" "p.(=)" "" "0000853099" "00021697" "50" "6403" "0" "6403" "0" "c.*4711C>T" "r.(=)" "p.(=)" "" "0000853100" "00021697" "50" "991" "0" "991" "0" "c.991T>C" "r.(?)" "p.(Ser331Pro)" "" "0000853101" "00021697" "30" "939" "0" "939" "0" "c.939T>C" "r.(?)" "p.(Asn313=)" "" "0000853102" "00021697" "10" "887" "-8" "887" "-6" "c.887-8_887-6del" "r.(=)" "p.(=)" "" "0000853103" "00021697" "10" "887" "-6" "887" "-6" "c.887-6del" "r.(=)" "p.(=)" "" "0000853104" "00021697" "30" "-2718" "0" "-2718" "0" "c.-2718C>G" "r.(?)" "p.(=)" "" "0000862644" "00021697" "30" "1192" "0" "1192" "0" "c.1192C>T" "r.(?)" "p.(Leu398Phe)" "" "0000862645" "00021697" "50" "-2452" "0" "-2452" "0" "c.-2452A>G" "r.(?)" "p.(=)" "" "0000862646" "00021697" "30" "-5003" "0" "-5003" "0" "c.-5003G>A" "r.(?)" "p.(=)" "" "0000890094" "00021697" "90" "1397" "0" "1397" "0" "c.1397T>G" "r.(?)" "p.(Val466Gly)" "" "0000890095" "00021697" "90" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208Ter)" "" "0000890096" "00021697" "50" "-4633" "0" "-4633" "0" "c.-4633C>T" "r.(?)" "p.(=)" "" "0000913665" "00021697" "10" "7804" "0" "7804" "0" "c.*6112G>A" "r.(=)" "p.(=)" "" "0000913666" "00021697" "10" "6636" "0" "6636" "0" "c.*4944C>T" "r.(=)" "p.(=)" "" "0000913667" "00021697" "50" "-3794" "0" "-3794" "0" "c.-3794C>T" "r.(?)" "p.(=)" "" "0000918918" "00021697" "70" "629" "0" "629" "0" "c.629A>G" "r.(?)" "p.(Asn210Ser)" "" "0000920223" "00021697" "90" "1145" "2" "1145" "2" "c.1145+2T>G" "r.spl" "p.?" "" "0000929953" "00021697" "30" "-3872" "0" "-3872" "0" "c.-3872C>T" "r.(?)" "p.(=)" "" "0000979766" "00021697" "50" "8108" "0" "8108" "0" "c.*6416G>A" "r.(=)" "p.(=)" "" "0000979770" "00021697" "50" "-3455" "0" "-3455" "0" "c.-3455G>A" "r.(?)" "p.(=)" "" "0000979771" "00021697" "30" "-3639" "0" "-3639" "0" "c.-3639C>T" "r.(?)" "p.(=)" "" "0000999333" "00021697" "30" "299" "0" "299" "0" "c.299A>G" "r.(?)" "p.(Gln100Arg)" "" "0000999334" "00021697" "50" "-2908" "0" "-2908" "0" "c.-2908G>A" "r.(?)" "p.(=)" "" "0000999335" "00021697" "50" "-2942" "0" "-2942" "0" "c.-2942C>A" "r.(?)" "p.(=)" "" "0000999336" "00021697" "30" "-3118" "0" "-3118" "0" "c.-3118T>A" "r.(?)" "p.(=)" "" "0000999337" "00021697" "30" "-3649" "0" "-3649" "0" "c.-3649C>A" "r.(?)" "p.(=)" "" "0000999338" "00021697" "30" "-3674" "0" "-3674" "0" "c.-3674C>A" "r.(?)" "p.(=)" "" "0000999339" "00021697" "30" "-3830" "0" "-3830" "0" "c.-3830C>A" "r.(?)" "p.(=)" "" "0000999343" "00021697" "30" "-4885" "0" "-4885" "0" "c.-4885C>T" "r.(?)" "p.(=)" "" "0001011914" "00021697" "90" "827" "0" "827" "0" "c.827A>T" "r.(?)" "p.(Asp276Val)" "" "0001011998" "00021697" "90" "887" "-10" "887" "-10" "c.887-10A>G" "r.spl" "p.?" "" "0001012421" "00021697" "50" "1117" "0" "1117" "0" "c.1117C>G" "r.(?)" "p.(Gln373Glu)" "" "0001014862" "00021697" "50" "138" "0" "138" "0" "c.138G>T" "r.(?)" "p.(Glu46Asp)" "" "0001014863" "00021697" "50" "-3428" "0" "-3428" "0" "c.-3428G>C" "r.(?)" "p.(=)" "" "0001026052" "00021697" "50" "8116" "0" "8116" "0" "c.*6424C>A" "r.(=)" "p.(=)" "" "0001038626" "00021697" "50" "1252" "0" "1252" "0" "c.1252C>T" "r.(?)" "p.(Arg418Trp)" "" "0001038627" "00021697" "50" "-3974" "0" "-3974" "0" "c.-3974C>T" "r.(?)" "p.(=)" "" "0001053796" "00021697" "50" "6083" "0" "6083" "0" "c.*4391C>G" "r.(=)" "p.(=)" "" "0001053797" "00021697" "50" "421" "0" "421" "0" "c.421T>C" "r.(?)" "p.(Tyr141His)" "" "0001053798" "00021697" "30" "207" "0" "207" "0" "c.207G>A" "r.(?)" "p.(=)" "" "0001053799" "00021697" "50" "-2699" "0" "-2699" "0" "c.-2699T>C" "r.(?)" "p.(=)" "" "0001057733" "00021697" "90" "731" "0" "731" "0" "c.731T>C" "r.(?)" "p.(Met244Thr)" "" "0001057741" "00021697" "90" "1015" "0" "1015" "0" "c.1015C>T" "r.(?)" "p.(Arg339Trp)" "" "0001059252" "00021697" "90" "229" "0" "229" "0" "c.229G>C" "r.(?)" "p.(Gly77Arg)" "" "0001065406" "00021697" "50" "-2608" "0" "-2607" "0" "c.-2608_-2607del" "r.(?)" "p.(=)" "" "0001065407" "00021697" "50" "-3967" "0" "-3967" "0" "c.-3967G>A" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 831 "{{screeningid}}" "{{variantid}}" "0000080918" "0000130003" "0000080918" "0000130004" "0000103201" "0000166309" "0000103201" "0000166310" "0000103202" "0000166311" "0000103203" "0000166312" "0000103203" "0000166313" "0000103204" "0000166314" "0000103204" "0000166315" "0000103205" "0000166316" "0000103206" "0000166317" "0000103207" "0000166318" "0000103207" "0000166319" "0000103208" "0000166320" "0000103209" "0000166321" "0000103210" "0000166322" "0000103210" "0000166323" "0000103211" "0000166324" "0000103212" "0000166325" "0000103212" "0000166326" "0000103213" "0000166327" "0000103213" "0000166328" "0000103214" "0000166329" "0000103214" "0000166330" "0000103215" "0000166331" "0000103215" "0000166332" "0000103216" "0000166333" "0000103217" "0000166334" "0000103218" "0000166335" "0000103218" "0000166336" "0000103218" "0000166337" "0000103219" "0000166338" "0000103219" "0000166339" "0000103220" "0000166340" "0000103221" "0000166341" "0000103222" "0000166342" "0000103223" "0000166343" "0000103224" "0000166344" "0000103225" "0000166345" "0000103225" "0000166346" "0000103226" "0000166347" "0000103226" "0000166348" "0000103227" "0000166349" "0000103227" "0000166350" "0000103228" "0000166351" "0000103228" "0000166352" "0000103229" "0000166354" "0000103229" "0000166356" "0000103230" "0000166357" "0000103230" "0000166358" "0000103231" "0000166359" "0000103231" "0000166360" "0000103232" "0000166361" "0000103232" "0000166362" "0000103233" "0000166363" "0000103233" "0000166364" "0000103234" "0000166365" "0000103234" "0000166366" "0000103235" "0000166367" "0000103235" "0000166368" "0000103235" "0000166369" "0000103236" "0000166370" "0000103236" "0000166371" "0000103237" "0000166372" "0000103237" "0000166373" "0000103238" "0000166374" "0000103238" "0000166375" "0000103239" "0000166376" "0000103239" "0000166377" "0000103240" "0000166378" "0000103240" "0000166379" "0000103241" "0000166380" "0000103241" "0000166381" "0000103242" "0000166382" "0000103242" "0000166383" "0000103243" "0000166384" "0000103243" "0000166385" "0000103244" "0000166386" "0000103244" "0000166387" "0000103245" "0000166388" "0000103245" "0000166389" "0000103246" "0000166390" "0000103246" "0000166391" "0000103247" "0000166392" "0000103247" "0000166393" "0000103248" "0000166394" "0000103248" "0000166395" "0000103249" "0000166396" "0000103249" "0000166397" "0000103250" "0000166398" "0000103250" "0000166399" "0000103251" "0000166400" "0000103251" "0000166401" "0000103252" "0000166402" "0000103252" "0000166403" "0000103253" "0000166404" "0000103253" "0000166405" "0000103254" "0000166406" "0000103254" "0000166407" "0000103255" "0000166408" "0000103255" "0000166409" "0000103256" "0000166410" "0000103256" "0000166411" "0000103257" "0000166412" "0000103257" "0000166413" "0000103258" "0000166414" "0000103258" "0000166415" "0000103259" "0000166416" "0000103259" "0000166417" "0000103260" "0000166418" "0000103260" "0000166419" "0000103261" "0000166420" "0000103261" "0000166421" "0000103262" "0000166422" "0000103262" "0000166423" "0000103262" "0000166424" "0000103263" "0000166425" "0000103263" "0000166426" "0000103264" "0000166427" "0000103264" "0000166428" "0000103265" "0000166429" "0000103265" "0000166430" "0000103266" "0000166431" "0000103266" "0000166432" "0000103267" "0000166433" "0000103267" "0000166434" "0000103268" "0000166435" "0000103268" "0000166436" "0000103269" "0000166437" "0000103269" "0000166438" "0000103270" "0000166439" "0000103270" "0000166440" "0000103271" "0000166441" "0000103271" "0000166442" "0000103272" "0000166443" "0000103272" "0000166444" "0000103273" "0000166445" "0000103273" "0000166446" "0000103274" "0000166447" "0000103275" "0000166448" "0000103275" "0000166449" "0000103276" "0000166450" "0000103276" "0000166451" "0000103277" "0000166452" "0000103277" "0000166453" "0000103278" "0000166454" "0000103278" "0000166455" "0000103279" "0000166456" "0000103279" "0000166457" "0000103280" "0000166458" "0000103280" "0000166459" "0000103281" "0000166460" "0000103281" "0000166461" "0000103282" "0000166462" "0000103282" "0000166463" "0000103283" "0000166464" "0000103283" "0000166465" "0000103284" "0000166466" "0000103284" "0000166467" "0000103284" "0000166468" "0000103285" "0000166469" "0000103285" "0000166470" "0000103286" "0000166471" "0000103286" "0000166472" "0000103287" "0000166473" "0000103287" "0000166474" "0000103288" "0000166475" "0000103288" "0000166476" "0000103289" "0000166477" "0000103289" "0000166478" "0000103290" "0000166479" "0000103290" "0000166480" "0000103291" "0000166481" "0000103291" "0000166482" "0000103292" "0000166483" "0000103292" "0000166484" "0000103293" "0000166485" "0000103293" "0000166486" "0000103294" "0000166487" "0000103294" "0000166488" "0000103294" "0000166489" "0000103295" "0000166490" "0000103295" "0000166491" "0000103296" "0000166492" "0000103296" "0000166493" "0000103297" "0000166494" "0000103297" "0000166495" "0000103298" 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