### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FERMT1) # 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}}" "FERMT1" "fermitin family member 1" "20" "p12.3" "unknown" "NG_016213.1" "UD_132084390799" "" "https://www.LOVD.nl/FERMT1" "" "1" "15889" "55612" "607900" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/FERMT1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-08-03 13:58:31" "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}}" "00007883" "FERMT1" "fermitin family member 1" "001" "NM_017671.4" "" "NP_060141.3" "" "" "" "-789" "4362" "2034" "6104191" "6055492" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01510" "KNDLRS" "Kindler\'s syndrome (KNDLRS)" "AR" "173650" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04187" "POF" "ovarian failure, premature (POF)" "" "" "" "" "" "00006" "2015-02-14 15:50:12" "00006" "2015-12-08 23:53:05" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "FERMT1" "01510" ## Individuals ## Do not remove or alter this header ## ## Count = 226 "{{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}}" "00247519" "" "" "" "1" "" "00000" "{PMID:Has 2015:25156791}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Italy" "" "0" "" "" "" "Pat3" "00247520" "" "" "" "1" "" "03031" "{PMID:de Almeida 2013:24346923}" "" "F" "no" "Brazil" "" "0" "" "" "mulato" "patient" "00247521" "" "" "" "1" "" "00000" "{PMID:Has 2006:16675959}" "" "F" "" "Italy" "" "0" "" "" "Calabria" "Pat4" "00247522" "" "" "" "4" "" "00000" "{PMID:Fuchs-Telem 2014:24635080}" "4-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Israel" "" "0" "" "" "Druze" "Fam2" "00247523" "" "" "" "1" "" "00000" "{PMID:Has 2015:25156791}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Italy" "" "0" "" "" "" "Pat2" "00247524" "" "" "" "1" "" "00000" "{PMID: Zhuo 2009:19292718}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "China" "" "0" "" "" "" "patient" "00247525" "" "" "" "1" "" "00000" "{PMID:Has 2006:16675959}" "" "F" "" "Italy" "" "0" "" "" "Calabria" "Pat3" "00247526" "" "" "" "1" "" "00000" "{PMID:Has 2006:16675959}" "" "F" "" "Italy" "" "0" "" "" "Calabria" "Pat1" "00247527" "" "" "" "1" "" "00000" "{PMID:Has 2006:16675959}" "" "F" "" "Italy" "" "0" "" "" "Calabria" "Pat2" "00247528" "" "" "" "1" "" "00000" "" "" "M" "" "Italy" "" "0" "" "" "" "" "00247529" "" "" "" "1" "" "00000" "{PMID:Has 2011:21936020}" "" "M" "" "Turkey" "" "0" "" "" "" "Pat3" "00247530" "" "" "" "1" "" "00000" "{PMID:Has 2011:21936020}" "" "M" "" "Turkey" "" "0" "" "" "" "Pat7" "00247531" "" "" "" "1" "" "00000" "{PMID:Has 2008:18835760}" "" "F" "" "Bulgaria" "" "0" "" "" "" "Pat2" "00247532" "" "" "" "1" "" "00000" "{PMID:Has 2008:18835760}" "" "M" "" "Bulgaria" "" "0" "" "" "" "Pat1" "00247533" "" "" "" "1" "" "00000" "{PMID:Has 2008:18835760}" "" "F" "" "Bulgaria" "58y" "0" "" "" "" "Pat3" "00247534" "" "" "" "2" "" "00000" "{PMID:Has 2015:25156791}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "India" "" "0" "" "" "" "Pat1" "00247535" "" "" "" "1" "" "00000" "{PMID:Sadler 2006:17178989}" "" "F" "" "Turkey" "" "0" "" "" "" "" "00247536" "" "" "" "1" "" "00000" "{PMID:Techanukul 2011:21336475}" "" "M" "" "India" "" "0" "" "" "" "" "00247537" "" "" "" "1" "" "00000" "{PMID:Has 2006:16675959}" "" "F" "" "Italy" "" "0" "" "" "Sardinia" "Pat6" "00247538" "" "" "" "6" "" "00000" "{PMID:Fuchs-Telem 2014:24635080}" "4-generation family, 6 affected (F, 5M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Israel" "" "0" "" "" "Arab Moslem" "Fam1" "00247539" "" "" "" "1" "" "00000" "{PMID:Techanukul 2011:21336475}" "" "F" "" "Australia" "" "0" "" "" "" "" "00247540" "" "" "" "1" "" "00000" "" "" "F" "" "Italy" "" "0" "" "" "" "" "00247541" "" "" "" "1" "" "00000" "{PMID:Mansur 2007:17989907}" "" "M" "" "Turkey" "" "0" "" "" "" "" "00247542" "" "" "" "1" "" "00000" "" "" "M" "?" "Turkey" "" "0" "" "" "" "" "00247543" "" "" "" "1" "" "00000" "{PMID:Siegel 2003:12789646}" "" "" "" "Jordan" "" "0" "" "" "" "" "00247544" "" "" "" "1" "" "00000" "{PMID:Siegel 2003:12789646}" "" "" "" "Jordan" "" "0" "" "" "" "" "00247545" "" "" "" "1" "" "00000" "{PMID:Has 2011:21936020}" "" "M" "" "France" "" "0" "" "" "" "Pat51" "00247546" "" "" "" "1" "" "00000" "{PMID:Has 2009:19762715}" "" "M" "" "Switzerland" "" "0" "" "" "" "" "00247547" "" "" "" "1" "" "00000" "{PMID:Has 2009:19762715}" "" "M" "" "" "" "0" "" "" "" "" "00247548" "" "" "" "1" "" "00000" "Has ., Dermatology, 2010" "" "F" "" "Switzerland" "" "0" "" "" "" "" "00247549" "" "" "" "1" "" "00000" "{PMID:Lai-Cheong 2009:19120339} {PMID: Emanuel 2006:17086002}" "" "M" "" "United States" "" "0" "" "" "Hispanic" "" "00247550" "" "" "" "3" "" "03030" "{DOI:Youssefian 2015:10.1038/jid.2015.9}, {PMID:Youssefian 2015:25599393}" "4-generation family, 3 affected (3M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Iran" "" "0" "" "" "" "Fam7" "00247551" "" "" "" "1" "" "00000" "{PMID:Almeida 2013:24346923}" "" "F" "" "Brazil" "" "0" "" "" "" "" "00247552" "" "" "" "1" "" "00000" "" "" "F" "" "Belgium" "" "0" "" "" "" "" "00247553" "" "" "" "1" "" "00000" "{PMID: Lai-Cheong 2007:17460733}" "" "F" "" "India" "" "0" "" "" "" "" "00247554" "" "" "" "1" "" "00000" "{PMID:Has 2006:16675959}" "" "M" "" "Italy" "" "0" "" "" "" "Pat9" "00247555" "" "" "" "1" "" "00000" "{PMID:Siegel 2003:12789646}" "" "" "" "Italy" "" "0" "" "" "" "" "00247556" "" "" "" "1" "" "00000" "{PMID:Techanukul 2011:21336475}" "" "F" "" "India" "" "0" "" "" "" "" "00247557" "" "" "" "1" "" "00000" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00247558" "" "" "" "3" "" "00000" "{PMID:Jobard 2003:12668616}" "2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents" "F" "" "Algeria" "" "0" "" "" "" "FamAPat9" "00247559" "" "" "00247558" "1" "" "00000" "{PMID:Jobard 2003:12668616}" "older brother" "M" "" "Algeria" "" "0" "" "" "" "FamAPat5" "00247560" "" "" "00247558" "1" "" "00000" "{PMID:Jobard 2003:12668616}" "older sister" "F" "" "Algeria" "" "0" "" "" "" "FamAPat4" "00247561" "" "" "" "1" "" "00000" "{PMID:Has 2009:19762715}" "" "M" "yes" "Germany" "" "0" "" "" "" "" "00247562" "" "" "" "2" "" "00000" "{PMID:Jobard 2003:12668616}" "2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents" "F" "" "Algeria" "" "0" "" "" "" "FamEPat3" "00247563" "" "" "00247562" "1" "" "00000" "{PMID:Jobard 2003:12668616}" "older brother" "M" "" "Algeria" "" "0" "" "" "" "FamEPat2" "00247564" "" "" "" "1" "" "00000" "{PMID: Lai-Cheong 2007:17460733}" "" "M" "" "India" "" "0" "" "" "" "" "00247565" "" "" "" "1" "" "00000" "{PMID: Lai-Cheong 2007:17460733}" "" "F" "" "India" "" "0" "" "" "" "" "00247566" "" "" "" "9" "" "03030" "{DOI:Youssefian 2015:10.1038/jid.2015.9}, {PMID:Youssefian 2015:25599393}" "6-generation family, 9 affected (3F, 6M), unaffected heterozygous carrier parents/relatives" "F" "yes" "Iran" "" "0" "" "" "" "Fam1" "00247567" "" "" "" "1" "" "00000" "{PMID:Siegel 2003:12789646}" "" "" "" "Pakistan" "" "0" "" "" "" "" "00247568" "" "" "" "3" "" "03030" "{DOI:Youssefian 2015:10.1038/jid.2015.9}, {PMID:Youssefian 2015:25599393}" "4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives" "F" "yes" "Iran" "" "0" "" "" "" "Fam4" "00247569" "" "" "" "1" "" "00000" "" "" "F" "" "Turkey" "" "0" "" "" "" "" "00247570" "" "" "" "1" "" "00000" "" "" "F" "" "Albania" "" "0" "" "" "" "" "00247571" "" "" "" "1" "" "00000" "{PMID:Kern 2007:17955455}" "" "F" "" "Albania" "" "0" "" "" "" "" "00247572" "" "" "" "1" "" "00000" "{PMID:Mansur 2007:17989907}" "" "F" "" "Albania" "24y" "0" "" "" "" "" "00247573" "" "" "" "1" "" "00000" "{PMID:Techanukul 2011:21336475}" "" "M" "" "India" "" "0" "" "" "" "" "00247574" "" "" "" "1" "" "00000" "{PMID:Techanukul 2011:21336475}" "" "M" "" "Yugoslavia" "" "0" "" "" "Serbian" "" "00247575" "" "" "" "1" "" "00000" "{PMID:Techanukul 2011:21336475}" "" "M" "" "Yugoslavia" "" "0" "" "" "Serbian" "" "00247576" "" "" "" "1" "" "00000" "{PMID:Martignago 2007:17916195}" "" "M" "" "Brazil" "?" "0" "" "" "Italian" "" "00247577" "" "" "" "1" "" "00000" "{PMID:Martignago 2007:17916195}" "" "F" "" "Brazil" "" "0" "" "" "Italian" "" "00247578" "" "" "" "1" "" "00000" "{PMID:Martignago 2007:17916195}" "" "F" "" "Brazil" "" "0" "" "" "Italian" "" "00247579" "" "" "" "1" "" "00000" "{PMID:Martignago 2007:17916195}" "" "M" "" "Brazil" "" "0" "" "" "Italian" "" "00247580" "" "" "" "1" "" "00000" "{PMID:Martignago 2007:17916195}" "" "M" "" "Brazil" "" "0" "" "" "Italian" "" "00247581" "" "" "" "1" "" "00000" "{PMID:Martignago 2007:17916195}" "" "M" "" "Brazil" "" "0" "" "" "Italian" "" "00247582" "" "" "" "1" "" "00000" "{PMID:Martignago 2007:17916195}" "" "F" "" "Brazil" "?" "0" "" "" "Italian" "" "00247583" "" "" "" "1" "" "00000" "{PMID:Martignago 2007:17916195}" "" "F" "" "Brazil" "" "0" "" "" "Italian" "" "00247584" "" "" "" "1" "" "00000" "" "" "M" "" "" "" "0" "" "" "" "" "00247585" "" "" "" "1" "" "00000" "" "" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00247586" "" "" "" "1" "" "00000" "" "" "F" "" "Pakistan" "" "0" "" "" "" "" "00247587" "" "" "" "1" "" "00000" "" "" "M" "" "Pakistan" "" "0" "" "" "" "" "00247588" "" "" "" "1" "" "00000" "" "" "F" "" "Pakistan" "" "0" "" "" "" "" "00247589" "" "" "" "1" "" "00000" "" "" "M" "" "Pakistan" "" "0" "" "" "" "" "00247590" "" "" "" "1" "" "00000" "" "" "F" "yes" "Pakistan" "" "0" "" "" "" "" "00247591" "" "" "" "1" "" "00000" "" "" "F" "yes" "Pakistan" "" "0" "" "" "" "" "00247592" "" "" "" "1" "" "00000" "" "" "M" "yes" "Pakistan" "" "0" "" "" "" "" "00247593" "" "" "" "1" "" "00000" "" "" "F" "?" "Romania" "" "0" "" "" "" "" "00247594" "" "" "" "1" "" "03030" "{DOI:Youssefian 2015:10.1038/jid.2015.9}, {PMID:Youssefian 2015:25599393}" "4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "no" "Iran" "" "0" "" "" "" "Fam11" "00247595" "" "" "" "3" "" "00000" "{PMID:Techanukul 2011:21336475}" "" "F" "" "Israel" "42y" "0" "" "" "Jewish;Kurdistan" "" "00247596" "" "" "00247598" "1" "" "00000" "{PMID:Jobard 2003:12668616}" "sister" "F" "" "Senegal" "" "0" "" "" "" "FamCPat4" "00247597" "" "" "00247598" "1" "" "00000" "{PMID:Jobard 2003:12668616}" "brother" "M" "" "Senegal" "" "0" "" "" "" "FamCPat3" "00247598" "" "" "" "3" "" "00000" "{PMID:Jobard 2003:12668616}" "2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents" "F" "" "Senegal" "" "0" "" "" "" "FamCPat5" "00247599" "" "" "" "1" "" "00000" "" "" "F" "" "Canada" "" "0" "" "" "" "" "00247600" "" "" "" "1" "" "00000" "Siegel , 2003; Penagos , 2004" "" "F" "" "Panama" "" "0" "" "" "" "" "00247601" "" "" "" "1" "" "00000" "Siegel , 2003; Penagos , 2004" "" "F" "" "Panama" "" "0" "" "" "" "" "00247602" "" "" "" "1" "" "00000" "Siegel , 2003; Penagos , 2004" "" "F" "" "Panama" "" "0" "" "" "" "" "00247603" "" "" "" "1" "" "00000" "Siegel , 2003; Penagos , 2004" "" "M" "" "Panama" "" "0" "" "" "" "" "00247604" "" "" "" "1" "" "00000" "Siegel , 2003; Penagos , 2004" "" "F" "" "Panama" "" "0" "" "" "" "" "00247605" "" "" "" "1" "" "00000" "Siegel , 2003; Penagos , 2004" "" "M" "" "Panama" "" "0" "" "" "" "" "00247606" "" "" "" "1" "" "00000" "Siegel , 2003; Penagos , 2004" "" "M" "" "Panama" "" "0" "" "" "" "" "00247607" "" "" "" "1" "" "00000" "Siegel , 2003; Penagos , 2004" "" "M" "" "Panama" "" "0" "" "" "" "" "00247608" "" "" "" "1" "" "00000" "Siegel , 2003; Penagos , 2004" "" "F" "" "Panama" "" "0" "" "" "" "" "00247609" "" "" "" "1" "" "00000" "Siegel , 2003; Penagos , 2004" "" "M" "" "Panama" "" "0" "" "" "" "" "00247610" "" "" "" "1" "" "00000" "Siegel , 2003; Penagos , 2004" "" "F" "" "Panama" "" "0" "" "" "" "" "00247611" "" "" "" "1" "" "00000" "Siegel , 2003; Penagos , 2004" "" "F" "" "Panama" "" "0" "" "" "" "" "00247612" "" "" "" "1" "" "00000" "Siegel , 2003; Penagos , 2004" "" "M" "" "Panama" "" "0" "" "" "" "" "00247613" "" "" "" "1" "" "00000" "Siegel , 2003; Penagos , 2004" "" "M" "" "Panama" "" "0" "" "" "" "" "00247614" "" "" "" "1" "" "00000" "Siegel , 2003; Penagos , 2004" "" "M" "" "Panama" "" "0" "" "" "" "" "00247615" "" "" "" "1" "" "00000" "Siegel , 2003; Penagos , 2004" "" "F" "" "Panama" "" "0" "" "" "" "" "00247616" "" "" "" "1" "" "00000" "Siegel , 2003; Penagos , 2004" "" "F" "" "Panama" "" "0" "" "" "" "" "00247617" "" "" "" "1" "" "00000" "{PMID:Burch 2006:16702500}" "" "M" "" "United States" "" "0" "" "" "" "" "00247618" "" "" "" "1" "" "00000" "{PMID:Siegel 2003:12789646}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00247619" "" "" "" "1" "" "00000" "{PMID:Siegel 2003:12789646}" "" "" "" "Turkey" "" "0" "" "" "" "" "00247620" "" "" "" "1" "" "00000" "{PMID: Krishna 2014:24635075}" "" "F" "yes" "India" "" "0" "" "" "" "" "00247621" "" "" "" "11" "" "03030" "{DOI:Youssefian 2015:10.1038/jid.2015.9}, {PMID:Youssefian 2015:25599393}" "4-generation family, 11 affected (4F, 7M), unaffected heterozygous carrier parents/relatives" "F" "yes" "Iran" "" "0" "" "" "" "Fam2" "00247622" "" "" "" "1" "" "00000" "{PMID:Ashton 2004:14962093}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00247623" "" "" "" "1" "" "00000" "Has , J Invest Dermatol, 2004" "" "M" "" "Switzerland" "" "0" "" "" "" "" "00247624" "" "" "" "1" "" "00000" "{PMID:Kern 2007:17955455}" "" "M" "" "Australia" "" "0" "" "" "" "" "00247625" "" "" "" "1" "" "00000" "{PMID:Ashton 2004:14962093}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00247626" "" "" "" "1" "" "00000" "{PMID:Ashton 2004:14962093}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00247627" "" "" "" "1" "" "00000" "{PMID: Lanschuetzer 2003:14507403}" "" "M" "" "Austria" "" "0" "" "" "" "" "00247628" "" "" "" "2" "" "03030" "{DOI:Youssefian 2015:10.1038/jid.2015.9}, {PMID:Youssefian 2015:25599393}" "2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Iran" "" "0" "" "" "" "Fam6" "00247629" "" "" "" "2" "" "03030" "{DOI:Youssefian 2015:10.1038/jid.2015.9}, {PMID:Youssefian 2015:25599393}" "4-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Iran" "" "0" "" "" "" "Fam3" "00247630" "" "" "" "1" "" "00000" "" "" "M" "" "Italy" "" "0" "" "" "" "" "00247631" "" "" "" "1" "" "00000" "{PMID:Ashton 2004:14962093}" "" "M" "" "Italy" "" "0" "" "" "" "" "00247632" "" "" "" "1" "" "00000" "{PMID:Ashton 2004:14962093}" "" "M" "" "Italy" "" "0" "" "" "" "" "00247633" "" "" "" "1" "" "00000" "{PMID:Ashton 2004:14962093}" "" "M" "" "Italy" "" "0" "" "" "" "" "00247634" "" "" "" "1" "" "03030" "{DOI:Youssefian 2015:10.1038/jid.2015.9}, {PMID:Youssefian 2015:25599393}" "3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "Iran" "" "0" "" "" "" "Fam8" "00247635" "" "" "" "1" "" "03034" "{PMID:Oh 2016:27489438}" "" "M" "" "China" "" "0" "" "" "Chinese" "patient" "00247636" "" "" "" "1" "" "00000" "{PMID:Has 2011:21936020}" "" "M" "" "Italy" "" "0" "" "" "" "Pat14" "00247637" "" "" "" "1" "" "00000" "{PMID:Siegel 2003:12789646}" "" "" "" "Japan" "" "0" "" "" "" "" "00247638" "" "" "" "1" "" "00000" "{PMID:Siegel 2003:12789646}" "" "" "" "Japan" "" "0" "" "" "" "" "00247639" "" "" "" "1" "" "00000" "{PMID:Natsuga 2011:21146372}" "" "M" "" "Japan" "" "0" "" "" "" "" "00247640" "" "" "" "1" "" "00000" "{PMID:Arita 2007:17854379}" "" "M" "" "India" "16y" "0" "" "" "" "" "00247641" "" "" "" "1" "" "00000" "{PMID:Has 2006:16675959}" "" "M" "" "Italy" "" "0" "" "" "" "Pat7" "00247642" "" "" "" "1" "" "00000" "{PMID:Has 2006:16675959}" "" "M" "" "Italy" "" "0" "" "" "" "Pat8" "00247643" "" "" "" "1" "" "00000" "" "" "M" "" "Italy" "" "0" "" "" "" "" "00247644" "" "" "" "1" "" "03030" "{DOI:Youssefian 2015:10.1038/jid.2015.9}, {PMID:Youssefian 2015:25599393}" "4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Iran" "" "0" "" "" "" "Fam5" "00247645" "" "" "" "1" "" "00000" "Lai-Cheong , G Ital Dermatol Venereol, 2005" "" "" "" "" "" "0" "" "" "" "" "00247646" "" "" "" "1" "" "00000" "{PMID:Has 2011:21936020}" "" "F" "" "Spain" "" "0" "" "" "" "Pat53" "00247647" "" "" "" "1" "" "00000" "{PMID:Has 2009:19762715}" "" "F" "" "Turkey" "" "0" "" "" "" "" "00247648" "" "" "" "1" "" "00000" "" "" "M" "" "Romania" "" "0" "" "" "" "" "00247649" "" "" "" "1" "" "00000" "{PMID:Techanukul 2011:21336475}" "" "M" "" "" "" "0" "" "" "Arabic" "" "00247650" "" "" "" "1" "" "00000" "{PMID:Has 2009:19762715}" "" "F" "" "" "" "0" "" "" "" "" "00247651" "" "" "" "1" "" "00000" "{PMID:Lai-Cheong 2009:19120339}" "" "M" "" "Canada" "" "0" "" "" "Morrocan" "" "00247652" "" "" "" "1" "" "00000" "{PMID:Lai-Cheong 2009:19120339}" "" "M" "" "Canada" "" "0" "" "" "Morrocan" "" "00247653" "" "" "" "1" "" "00000" "{PMID:Has 2011:21936020}" "" "F" "" "Spain" "" "0" "" "" "" "Pat18" "00247654" "" "" "" "1" "" "00000" "{PMID:Has 2011:21936020}" "" "F" "" "Spain" "" "0" "" "" "" "Pat36" "00247655" "" "" "" "1" "" "00000" "{PMID:Has 2011:21936020}" "" "F" "" "Spain" "" "0" "" "" "" "Pat40" "00247656" "" "" "" "1" "" "00000" "{PMID:Has 2009:19762715}" "" "M" "" "Spain" "" "0" "" "" "" "" "00247657" "" "" "" "1" "" "00000" "{PMID:Has 2011:21936020}" "" "F" "" "Spain" "" "0" "" "" "" "Pat4" "00247658" "" "" "" "1" "" "00000" "{PMID:Has 2011:21936020}" "" "F" "" "Argentina" "" "0" "" "" "" "Pat33" "00247659" "" "" "" "3" "" "03030" "{DOI:Youssefian 2015:10.1038/jid.2015.9}, {PMID:Youssefian 2015:25599393}" "2-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives" "M" "no" "Iran" "" "0" "" "" "" "Fam9" "00247660" "" "" "" "1" "" "00000" "{PMID:Sethuraman 2005:15807691}" "" "M" "" "India" "" "0" "" "" "" "" "00247661" "" "" "" "1" "" "00000" "{PMID: Lai-Cheong 2007:17460733}" "" "F" "" "India" "" "0" "" "" "" "" "00247662" "" "" "" "1" "" "00000" "{PMID:Has 2011:21936020}" "" "M" "" "" "" "0" "" "" "" "Pat60" "00247663" "" "" "" "2" "" "00000" "{PMID:Jobard 2003:12668616}" "2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents" "F" "" "Tunisia" "" "0" "" "" "" "FamDPat3" "00247664" "" "" "00247663" "1" "" "00000" "{PMID:Jobard 2003:12668616}" "brother" "M" "" "Tunisia" "" "0" "" "" "" "FamDPat6" "00247665" "" "" "" "1" "" "00000" "{PMID:Has 2006:16675959}" "" "M" "" "(Italy)" "" "0" "" "" "" "Pat14" "00247666" "" "" "" "1" "" "00000" "{PMID:Has 2008:18652585}" "" "M" "" "Somalia" "" "0" "" "" "" "" "00247667" "" "" "" "1" "" "00000" "{PMID: Lai-Cheong 2007:17460733}" "" "M" "" "India" "" "0" "" "" "" "" "00247668" "" "" "" "1" "" "00000" "{PMID:Ow 2006:17156004}" "" "M" "" "Singapore" "" "0" "" "" "" "" "00247669" "" "" "" "1" "" "00000" "{PMID:Fassihi 2005:16051467}" "" "M" "" "Pakistan" "" "0" "" "" "" "" "00247670" "" "" "" "2" "" "03030" "{DOI:Youssefian 2015:10.1038/jid.2015.9}, {PMID:Youssefian 2015:25599393}" "4-generation family, 2 affected (2M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Iran" "" "0" "" "" "" "Fam10" "00247671" "" "" "" "1" "" "00000" "{PMID:Diociauti 2015:25556422}" "" "M" "yes" "Pakistan" "00y03m" "0" "" "" "" "" "00247672" "" "" "" "1" "" "00000" "{PMID:Has 2006:16675959}" "" "F" "" "Italy" "" "0" "" "" "" "" "00247673" "" "" "" "1" "" "00000" "{PMID:Jobard 2003:12668616}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Algeria" "" "0" "" "" "" "FamBPat4" "00247674" "" "" "" "1" "" "00000" "{PMID:Has 2011:21936020}" "" "M" "" "Syria" "" "0" "" "" "" "Pat30" "00247677" "" "" "" "1" "" "00000" "{PMID:Ashton 2004:14962093}" "" "F" "" "Oman" "" "0" "" "" "" "" "00247678" "" "" "" "1" "" "00000" "{PMID:Kacar 2008:18410424}" "" "F" "" "Turkey" "" "0" "" "" "" "" "00247679" "" "" "" "1" "" "00000" "{PMID:Kacar 2008:18410424}" "" "F" "" "Turkey" "" "0" "" "" "" "" "00247680" "" "" "" "1" "" "00000" "{PMID:Lai-Cheong 2009:19120339}" "" "M" "" "Turkey" "" "0" "" "" "" "" "00247681" "" "" "" "1" "" "00000" "{PMID:Lai-Cheong 2009:19120339}" "" "M" "" "Turkey" "" "0" "" "" "" "" "00247682" "" "" "" "1" "" "00000" "{PMID:Lai-Cheong 2009:19120339}" "" "M" "" "Turkey" "" "0" "" "" "" "" "00247683" "" "" "" "1" "" "00000" "{PMID:Lai-Cheong 2009:19120339}" "" "M" "" "Turkey" "" "0" "" "" "" "" "00247684" "" "" "" "1" "" "00000" "{PMID:Lai-Cheong 2009:19120339}" "" "F" "" "Turkey" "" "0" "" "" "" "" "00247685" "" "" "" "1" "" "00000" "{PMID: Lai-Cheong 2007:17460733}" "" "M" "" "Somalia" "" "0" "" "" "" "" "00307133" "" "" "" "1" "" "00006" "{PMID:Chmel 2015:26083552}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Germany" "" "0" "" "" "Slavic" "Pat1" "00307134" "" "" "" "1" "" "00006" "{PMID:Chmel 2015:26083552}" "" "M" "no" "Romania" "" "0" "" "" "Slavic" "Pat2" "00307135" "" "" "" "1" "" "00006" "{PMID:Chmel 2015:26083552}" "2-generation family, 2 affected siblings, unaffected heterozygous carrier parents" "F" "" "Afghanistan" "" "0" "" "" "" "Pat3" "00307136" "" "" "" "1" "" "00006" "{PMID:Chmel 2015:26083552}" "" "M" "" "Romania" "" "0" "" "" "" "Pat4" "00326146" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat1" "00326147" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat2" "00326148" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat5" "00326149" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat6" "00326150" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat8" "00326151" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat9" "00326152" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat10" "00326153" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat11" "00326154" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat12" "00326155" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat13" "00326156" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat15" "00326157" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat16" "00326158" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat17" "00326159" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat19" "00326160" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat20" "00326161" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat21" "00326162" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat22" "00326163" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat23" "00326164" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat24" "00326165" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat25" "00326166" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat26" "00326167" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat27" "00326168" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat28" "00326169" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat29" "00326170" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat31" "00326171" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat32" "00326172" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat34" "00326173" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat35" "00326174" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat37" "00326175" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat38" "00326176" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat39" "00326177" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat41" "00326178" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat42" "00326179" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat43" "00326180" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat44" "00326181" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat45" "00326182" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat46" "00326183" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat47" "00326184" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat48" "00326185" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat49" "00326186" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat50" "00326187" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat52" "00326188" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat54" "00326189" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat55" "00326190" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat56" "00326191" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat57" "00326192" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat58" "00326193" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat59" "00326194" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat61" "00326195" "" "" "" "1" "" "00006" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "" "" "0" "" "" "" "Pat62" "00326196" "" "" "" "2" "" "00006" "{PMID:Has 2008:18835760}" "family, 2 affected sibs" "M" "no" "Bulgaria" "" "0" "" "" "" "Pat1" "00326197" "" "" "00326196" "1" "" "00006" "{PMID:Has 2008:18835760}" "sib" "F" "no" "Bulgaria" "" "0" "" "" "" "Pat2" "00326198" "" "" "" "1" "" "00006" "{PMID:Has 2008:18835760}" "" "F" "no" "Bulgaria" "" "0" "" "" "" "Pat3" "00403114" "" "" "" "3" "" "00006" "{PMID:AlAsiri 2015:25437880}" "4-generation family, 3 affected sisters, unaffected heterozygous carrier parents/relatives" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "family" "00419556" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "8045" "00419557" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "9073" "00419930" "" "" "" "1" "" "04013" "" "" "F" "no" "Russian Federation" ">48y" "" "" "" "Russian" "d13" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 226 "{{individualid}}" "{{diseaseid}}" "00247519" "01510" "00247520" "01510" "00247521" "01510" "00247522" "01510" "00247523" "01510" "00247524" "01510" "00247525" "01510" "00247526" "01510" "00247527" "01510" "00247528" "01510" "00247529" "01510" "00247530" "01510" "00247531" "01510" "00247532" "01510" "00247533" "01510" "00247534" "01510" "00247535" "01510" "00247536" "01510" "00247537" "01510" "00247538" "01510" "00247539" "01510" "00247540" "01510" "00247541" "01510" "00247542" "01510" "00247543" "01510" "00247544" "01510" "00247545" "01510" "00247546" "01510" "00247547" "01510" "00247548" "01510" "00247549" "01510" "00247550" "01510" "00247551" "01510" "00247552" "01510" "00247553" "01510" "00247554" "01510" "00247555" "01510" "00247556" "01510" "00247557" "01510" "00247558" "01510" "00247559" "01510" "00247560" "01510" "00247561" "01510" "00247562" "01510" "00247563" "01510" "00247564" "01510" "00247565" "01510" "00247566" "01510" "00247567" "01510" "00247568" "01510" "00247569" "01510" "00247570" "01510" "00247571" "01510" "00247572" "01510" "00247573" "01510" "00247574" "01510" "00247575" "01510" "00247576" "01510" "00247577" "01510" "00247578" "01510" "00247579" "01510" "00247580" "01510" "00247581" "01510" "00247582" "01510" "00247583" "01510" "00247584" "01510" "00247585" "01510" "00247586" "01510" "00247587" "01510" "00247588" "01510" "00247589" "01510" "00247590" "01510" "00247591" "01510" "00247592" "01510" "00247593" "01510" "00247594" "01510" "00247595" "01510" "00247596" "01510" "00247597" "01510" "00247598" "01510" "00247599" "01510" "00247600" "01510" "00247601" "01510" "00247602" "01510" "00247603" "01510" "00247604" "01510" "00247605" "01510" "00247606" "01510" "00247607" "01510" "00247608" "01510" "00247609" "01510" "00247610" "01510" "00247611" "01510" "00247612" "01510" "00247613" "01510" "00247614" "01510" "00247615" "01510" "00247616" "01510" "00247617" "01510" "00247618" "01510" "00247619" "01510" "00247620" "01510" "00247621" "01510" "00247622" "01510" "00247623" "01510" "00247624" "01510" "00247625" "01510" "00247626" "01510" "00247627" "01510" "00247628" "01510" "00247629" "01510" "00247630" "01510" "00247631" "01510" "00247632" "01510" "00247633" "01510" "00247634" "01510" "00247635" "01510" "00247636" "01510" "00247637" "01510" "00247638" "01510" "00247639" "01510" "00247640" "01510" "00247641" "01510" "00247642" "01510" "00247643" "01510" "00247644" "01510" "00247645" "01510" "00247646" "01510" "00247647" "01510" "00247648" "01510" "00247649" "01510" "00247650" "01510" "00247651" "01510" "00247652" "01510" "00247653" "01510" "00247654" "01510" "00247655" "01510" "00247656" "01510" "00247657" "01510" "00247658" "01510" "00247659" "01510" "00247660" "01510" "00247661" "01510" "00247662" "01510" "00247663" "01510" "00247664" "01510" "00247665" "01510" "00247666" "01510" "00247667" "01510" "00247668" "01510" "00247669" "01510" "00247670" "01510" "00247671" "01510" "00247672" "01510" "00247673" "01510" "00247674" "01510" "00247677" "01510" "00247678" "01510" "00247679" "01510" "00247680" "01510" "00247681" "01510" "00247682" "01510" "00247683" "01510" "00247684" "01510" "00247685" "01510" "00307133" "01510" "00307134" "01510" "00307135" "01510" "00307136" "01510" "00326146" "01510" "00326147" "01510" "00326148" "01510" "00326149" "01510" "00326150" "01510" "00326151" "01510" "00326152" "01510" "00326153" "01510" "00326154" "01510" "00326155" "01510" "00326156" "01510" "00326157" "01510" "00326158" "01510" "00326159" "01510" "00326160" "01510" "00326161" "01510" "00326162" "01510" "00326163" "01510" "00326164" "01510" "00326165" "01510" "00326166" "01510" "00326167" "01510" "00326168" "01510" "00326169" "01510" "00326170" "01510" "00326171" "01510" "00326172" "01510" "00326173" "01510" "00326174" "01510" "00326175" "01510" "00326176" "01510" "00326177" "01510" "00326178" "01510" "00326179" "01510" "00326180" "01510" "00326181" "01510" "00326182" "01510" "00326183" "01510" "00326184" "01510" "00326185" "01510" "00326186" "01510" "00326187" "01510" "00326188" "01510" "00326189" "01510" "00326190" "01510" "00326191" "01510" "00326192" "01510" "00326193" "01510" "00326194" "01510" "00326195" "01510" "00326196" "01510" "00326197" "01510" "00326198" "01510" "00403114" "04187" "00419556" "00198" "00419557" "00198" "00419930" "01510" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01510, 04187 ## Count = 220 "{{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}}" "0000186757" "01510" "00247534" "00000" "Familial, autosomal recessive" "" "" "" "4y" "" "" "" "" "" "" "" "" "" "0000186758" "01510" "00247520" "03031" "Isolated (sporadic)" "" "Skin fragility; blisters; mucosal involvement" "" "5y" "" "" "" "" "" "" "" "" "" "0000186759" "01510" "00247519" "00000" "Familial, autosomal recessive" "" "" "" "15y" "" "" "" "" "" "" "" "" "" "0000186760" "01510" "00247629" "03030" "Familial, autosomal recessive" "" "Trauma induced blisters,; Skin atrophy,; Photosensitivity,; Constipation;" "" "15y" "" "" "" "" "" "" "" "" "" "0000186761" "01510" "00247523" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "22y" "" "" "" "" "" "" "" "" "" "0000186762" "01510" "00247551" "00000" "Familial, autosomal recessive" "" "widespread pigmentary changes in her skin as well as photosensitivity and fragility of the skin and mucous membranes. The mucosal involvement led to an erosive stomatitis as well as esophageal, anal and vaginal stenoses, requiring surgical intervention." "" "28y" "" "" "" "" "" "" "" "" "" "0000186763" "01510" "00247538" "00000" "Familial, autosomal recessive" "" "childhood atrophic and fragile hypo‐ and hyperpigmented skin, brachydactyly, syndactyly, nail dystrophy, dental caries; PatIII4 37y-invasive transitional cell carcinoma bladder" "" "37y" "" "" "" "" "" "" "" "" "" "0000186765" "01510" "00247544" "00000" "-" "" "" "" "?" "" "" "" "" "" "" "" "" "" "0000186766" "01510" "00247555" "00000" "-" "" "" "" "?" "" "" "" "" "" "" "" "" "" "0000186767" "01510" "00247570" "00000" "-" "" "" "" "?" "" "" "" "" "" "" "" "" "" "0000186768" "01510" "00247576" "00000" "-" "" "" "" "?" "" "" "" "" "" "" "" "" "" "0000186769" "01510" "00247577" "00000" "-" "" "" "" "?" "" "" "" "" "" "" "" "" "" "0000186770" "01510" "00247578" "00000" "-" "" "" "" "?" "" "" "" "" "" "" "" "" "" "0000186771" "01510" "00247579" "00000" "-" "" "" "" "?" "" "" "" "" "" "" "" "" "" "0000186772" "01510" "00247580" "00000" "-" "" "" "" "?" "" "" "" "" "" "" "" "" "" "0000186773" "01510" "00247581" "00000" "-" "" "" "" "?" "" "" "" "" "" "" "" "" "" "0000186774" "01510" "00247582" "00000" "-" "" "" "" "?" "" "" "" "" "" "" "" "" "" "0000186775" "01510" "00247583" "00000" "-" "" "" "" "?" "" "" "" "" "" "" "" "" "" "0000186776" "01510" "00247618" "00000" "-" "" "" "" "?" "" "" "" "" "" "" "" "" "" "0000186777" "01510" "00247619" "00000" "-" "" "" "" "?" "" "" "" "" "" "" "" "" "" "0000186778" "01510" "00247637" "00000" "-" "" "" "" "?" "" "" "" "" "" "" "" "" "" "0000186779" "01510" "00247638" "00000" "-" "" "" "" "?" "" "" "" "" "" "" "" "" "" "0000186780" "01510" "00247645" "00000" "-" "" "" "" "?" "" "" "" "" "" "" "" "" "" "0000186781" "01510" "00247650" "00000" "-" "" "" "" "?" "" "" "" "" "" "" "" "" "" "0000186782" "01510" "00247680" "00000" "-" "" "" "" "?" "" "" "" "" "" "" "" "" "" "0000186783" "01510" "00247681" "00000" "-" "" "" "" "?" "" "" "" "" "" "" "" "" "" "0000186784" "01510" "00247682" "00000" "-" "" "" "" "?" "" "" "" "" "" "" "" "" "" "0000186785" "01510" "00247683" "00000" "-" "" "" "" "?" "" "" "" "" "" "" "" "" "" "0000186786" "01510" "00247684" "00000" "-" "" "" "" "?" "" "" "" "" "" "" "" "" "" "0000186787" "01510" "00247536" "00000" "-" "" "" "" "10y" "" "" "" "" "" "" "" "" "" "0000186788" "01510" "00247547" "00000" "-" "" "" "" "10y" "" "" "" "" "" "" "" "" "" "0000186789" "01510" "00247599" "00000" "-" "" "" "" "10y" "" "" "" "" "" "" "" "" "" "0000186790" "01510" "00247605" "00000" "-" "" "" "" "10y" "" "" "" "" "" "" "" "" "" "0000186791" "01510" "00247625" "00000" "-" "" "" "" "10y" "" "" "" "" "" "" "" "" "" "0000186792" "01510" "00247556" "00000" "-" "" "" "" "11y" "" "" "" "" "" "" "" "" "" "0000186793" "01510" "00247612" "00000" "-" "" "" "" "11y" "" "" "" "" "" "" "" "" "" "0000186794" "01510" "00247660" "00000" "-" "" "" "" "11y" "" "" "" "" "" "" "" "" "" "0000186795" "01510" "00247663" "00000" "-" "" "" "" "11y" "" "" "" "" "" "" "" "" "" "0000186796" "01510" "00247550" "03030" "Familial, autosomal recessive" "" "Trauma induced blisters; Poikiloderma; Skin atrophy; Photosensitivity; Esophageal stricture; Constipation; Severe desquamative gingivitis ; Acrokeratosis" "" "12y" "" "" "" "" "" "" "" "" "" "0000186797" "01510" "00247565" "00000" "-" "" "" "" "12y" "" "" "" "" "" "" "" "" "" "0000186798" "01510" "00247563" "00000" "-" "" "" "" "13y" "" "" "" "" "" "" "" "" "" "0000186799" "01510" "00247604" "00000" "-" "" "" "" "13y" "" "" "" "" "" "" "" "" "" "0000186800" "01510" "00247611" "00000" "-" "" "" "" "13y" "" "" "" "" "" "" "" "" "" "0000186801" "01510" "00247641" "00000" "-" "" "" "" "13y" "" "" "" "" "" "" "" "" "" "0000186802" "01510" "00247636" "00000" "Familial, autosomal recessive" "14y" "trauma induced blisters; atrophy on the dorsal aspects of hands and feet, localized poikiloderma; photo sensitivity; mild webbing/sclerodermiform fingers; oral bleeding; dysphagia; no intestine symptoms; anal bleeding, fissures; urogenital stenosis; ectropion, keratitis; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000186803" "01510" "00247553" "00000" "-" "" "" "" "15y" "" "" "" "" "" "" "" "" "" "0000186804" "01510" "00247564" "00000" "-" "" "" "" "15y" "" "" "" "" "" "" "" "" "" "0000186805" "01510" "00247668" "00000" "-" "" "" "" "15y" "" "" "" "" "" "" "" "" "" "0000186806" "01510" "00247527" "00000" "-" "" "" "" "16y" "" "" "" "" "" "" "" "" "" "0000186807" "01510" "00247640" "00000" "-" "" "Well-differentiated squamous cell carcinoma of the right ankle at 16y" "" "16y" "" "" "" "" "" "" "" "" "" "0000186808" "01510" "00247678" "00000" "-" "" "" "" "16y" "" "" "" "" "" "" "" "" "" "0000186809" "01510" "00247569" "00000" "Familial, autosomal recessive" "" "" "" "17y" "" "" "" "" "" "" "" "" "" "0000186810" "01510" "00247596" "00000" "-" "" "" "" "17y" "" "" "" "" "" "" "" "" "" "0000186811" "01510" "00247606" "00000" "-" "" "" "" "17y" "" "" "" "" "" "" "" "" "" "0000186812" "01510" "00247653" "00000" "Familial, autosomal recessive" "17y" "no trauma induced blisters; atrophy on the dorsal aspects of hands and feet, localized poikiloderma; photo sensitivity; no webbing/pseudoainhum hands/feet; oral bleeding; esophageal stenosis, requiring frequent dilatations or surgery; no intestine symptoms; no anal symptoms; no urogenital symptoms; no ocular symptoms; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000186813" "01510" "00247679" "00000" "-" "" "" "" "17y" "" "" "" "" "" "" "" "" "" "0000186814" "01510" "00247559" "00000" "-" "" "" "" "18y" "" "" "" "" "" "" "" "" "" "0000186815" "01510" "00247597" "00000" "-" "" "" "" "18y" "" "" "" "" "" "" "" "" "" "0000186816" "01510" "00247624" "00000" "-" "" "" "" "18y" "" "" "" "" "" "" "" "" "" "0000186817" "01510" "00247672" "00000" "-" "" "" "" "18y" "" "" "" "" "" "" "" "" "" "0000186818" "01510" "00247595" "00000" "-" "" "Squamous cell carcinoma of the hard palate at the age of 34y" "" "19y" "" "" "" "" "" "" "" "" "" "0000186819" "01510" "00247603" "00000" "-" "" "" "" "19y" "" "" "" "" "" "" "" "" "" "0000186820" "01510" "00247634" "03030" "Familial, autosomal recessive" "" "Trauma induced blisters; Poikiloderma; Skin atrophy; Photosensitivity; Esophageal stricture;" "" "19y" "" "" "" "" "" "" "" "" "" "0000186821" "01510" "00247664" "00000" "-" "" "" "" "19y" "" "" "" "" "" "" "" "" "" "0000186822" "01510" "00247677" "00000" "-" "" "" "" "19y" "" "" "" "" "" "" "" "" "" "0000186823" "01510" "00247535" "00000" "-" "" "" "" "1m" "" "" "" "" "" "" "" "" "" "0000186824" "01510" "00247608" "00000" "-" "" "" "" "1y" "" "" "" "" "" "" "" "" "" "0000186825" "01510" "00247616" "00000" "-" "" "" "" "1y" "" "" "" "" "" "" "" "" "" "0000186826" "01510" "00247560" "00000" "-" "" "" "" "20y" "" "" "" "" "" "" "" "" "" "0000186827" "01510" "00247572" "00000" "-" "" "" "" "21y" "" "" "" "" "" "" "" "" "" "0000186828" "01510" "00247643" "00000" "-" "" "" "" "21y" "" "" "" "" "" "" "" "" "" "0000186829" "01510" "00247665" "00000" "-" "" "" "" "21y" "" "" "" "" "" "" "" "" "" "0000186830" "01510" "00247598" "00000" "-" "" "" "" "22y" "" "" "" "" "" "" "" "" "" "0000186831" "01510" "00247674" "00000" "Familial, autosomal recessive" "22y" "trauma induced blisters; atrophy on the dorsal aspects of hands and feet, localized poikiloderma; photo sensitivity; mild webbing/sclerodermiform fingers; oral bleeding; no esophageal symptoms; no intestine symptoms; no anal symptoms; no urogenital symptoms; ectropion; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000186832" "01510" "00247524" "00000" "-" "" "" "" "23y" "" "" "" "" "" "" "" "" "" "0000186833" "01510" "00247622" "00000" "-" "" "" "" "23y" "" "" "" "" "" "" "" "" "" "0000186834" "01510" "00247642" "00000" "-" "" "" "" "23y" "" "" "" "" "" "" "" "" "" "0000186835" "01510" "00247658" "00000" "Familial, autosomal recessive" "23y" "trauma induced blisters; atrophy on the dorsal aspects of hands and feet, disseminated poikiloderma; photo sensitivity; mild webbing/sclerodermiform fingers; oral bleeding; no esophageal symptoms; colitis/diarhoea; anal stenosis; urogenital stenosis; ectropion; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000186836" "01510" "00247670" "03030" "Familial, autosomal recessive" "" "Trauma induced blisters; Poikiloderma; Skin atrophy; Photosensitivity; Esophageal stricture; Severe desquamative gingivitis ; Acrokeratosis;" "" "23y" "" "" "" "" "" "" "" "" "" "0000186837" "01510" "00247628" "03030" "Familial, autosomal recessive" "" "Trauma induced blisters; Poikiloderma; Skin atrophy; Photosensitivity; Esophageal stricture; Constipation; Severe desquamative gingivitis ; Acrokeratosis;" "" "24y" "" "" "" "" "" "" "" "" "" "0000186838" "01510" "00247659" "03030" "Familial, autosomal recessive" "" "Trauma induced blisters; Poikiloderma; Skin atrophy; Photosensitivity; Esophageal stricture; Constipation; Severe desquamative gingivitis ; Acrokeratosis" "" "24y" "" "" "" "" "" "" "" "" "" "0000186839" "01510" "00247525" "00000" "-" "" "" "" "25y" "" "" "" "" "" "" "" "" "" "0000186840" "01510" "00247541" "00000" "-" "" "" "" "25y" "" "" "" "" "" "" "" "" "" "0000186841" "01510" "00247552" "00000" "-" "" "" "" "26y" "" "" "" "" "" "" "" "" "" "0000186842" "01510" "00247561" "00000" "Familial, autosomal recessive" "" "squamous cell carcioma of the lip at the age of 28y; Revertant mosaicism" "" "27y" "" "" "" "" "" "" "" "" "" "0000186843" "01510" "00247600" "00000" "-" "" "" "" "27y" "" "" "" "" "" "" "" "" "" "0000186844" "01510" "00247654" "00000" "Familial, autosomal recessive" "27y" "no trauma induced blisters; atrophy on the dorsal aspects of hands and feet, localized poikiloderma; photo sensitivity; no webbing/pseudoainhum hands/feet; periodontitis/microstoma; dysphagia; no intestine symptoms; no anal symptoms; no urogenital symptoms; ectropion; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000186845" "01510" "00247531" "00000" "-" "" "" "" "28y" "" "" "" "" "" "" "" "" "" "0000186846" "01510" "00247602" "00000" "-" "" "" "" "28y" "" "" "" "" "" "" "" "" "" "0000186847" "01510" "00247630" "00000" "-" "" "" "" "28y" "" "" "" "" "" "" "" "" "" "0000186848" "01510" "00247666" "00000" "-" "" "" "" "28y" "" "" "" "" "" "" "" "" "" "0000186849" "01510" "00247558" "00000" "-" "" "" "" "2y" "" "" "" "" "" "" "" "" "" "0000186850" "01510" "00247615" "00000" "-" "" "" "" "2y" "" "" "" "" "" "" "" "" "" "0000186851" "01510" "00247655" "00000" "Familial, autosomal recessive" "30y" "no trauma induced blisters; atrophy on the dorsal aspects of hands and feet, localized poikiloderma; photo sensitivity; no webbing/pseudoainhum hands/feet; periodontitis/microstoma; dysphagia; no intestine symptoms; no anal symptoms; no urogenital symptoms; ectropion; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000186852" "01510" "00247667" "00000" "-" "" "" "" "30y" "" "" "" "" "" "" "" "" "" "0000186853" "01510" "00247685" "00000" "-" "" "" "" "30y" "" "" "" "" "" "" "" "" "" "0000186854" "01510" "00247532" "00000" "-" "" "" "" "32y" "" "" "" "" "" "" "" "" "" "0000186855" "01510" "00247566" "03030" "Familial, autosomal recessive" "" "Trauma induced blisters; Poikiloderma; Skin atrophy; Photosensitivity; Esophageal stricture;" "" "32y" "" "" "" "" "" "" "" "" "" "0000186856" "01510" "00247621" "03030" "Familial, autosomal recessive" "" "Trauma induced blisters; Poikiloderma; Skin atrophy; Photosensitivity; Esophageal stricture; Severe desquamative gingivitis ;" "" "32y" "" "" "" "" "" "" "" "" "" "0000186857" "01510" "00247644" "03030" "Familial, autosomal recessive" "" "Trauma induced blisters; Poikiloderma; Skin atrophy; Photosensitivity; Esophageal stricture; Constipation; Severe desquamative gingivitis ; Acrokeratosis;" "" "33y" "" "" "" "" "" "" "" "" "" "0000186858" "01510" "00247631" "00000" "-" "" "" "" "34y" "" "" "" "" "" "" "" "" "" "0000186859" "01510" "00247623" "00000" "-" "" "" "" "35y" "" "" "" "" "" "" "" "" "" "0000186860" "01510" "00247594" "03030" "Familial, autosomal recessive" "" "Trauma induced blisters; Poikiloderma; Skin atrophy; Photosensitivity; Esophageal stricture; Severe desquamative gingivitis ; Acrokeratosis;" "" "36y" "" "" "" "" "" "" "" "" "" "0000186861" "01510" "00247632" "00000" "-" "" "" "" "36y" "" "" "" "" "" "" "" "" "" "0000186862" "01510" "00247647" "00000" "-" "" "" "" "36y" "" "" "" "" "" "" "" "" "" "0000186863" "01510" "00247656" "00000" "-" "" "" "" "37y" "" "" "" "" "" "" "" "" "" "0000186864" "01510" "00247529" "00000" "Familial, autosomal recessive" "03y" "trauma induced blisters; atrophy on the dorsal aspects of hands and feet; no photo sensitivity; no webbing/pseudoainhum hands/feet; periodontitis/microstoma; no esophageal symptoms; no intestine symptoms; no anal symptoms; no urogenital symptoms; no ocular symptoms; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000186865" "01510" "00247557" "00000" "-" "" "" "" "3y" "" "" "" "" "" "" "" "" "" "0000186866" "01510" "00247610" "00000" "-" "" "" "" "3y" "" "" "" "" "" "" "" "" "" "0000186867" "01510" "00247661" "00000" "-" "" "" "" "3y" "" "" "" "" "" "" "" "" "" "0000186868" "01510" "00247639" "00000" "-" "" "squamous cell carcinoma of right hand (palm) at the age of 27y, recurred four times" "" "40y" "" "" "" "" "" "" "" "" "" "0000186869" "01510" "00247526" "00000" "-" "" "" "" "41y" "" "" "" "" "" "" "" "" "" "0000186870" "01510" "00247554" "00000" "-" "" "" "" "42y" "" "" "" "" "" "" "" "" "" "0000186871" "01510" "00247626" "00000" "-" "" "" "" "44y" "" "" "" "" "" "" "" "" "" "0000186872" "01510" "00247633" "00000" "-" "" "Two squamous cell carcinomas on the lower lip and dorsum of the hand at 43y" "" "46y" "" "" "" "" "" "" "" "" "" "0000186873" "01510" "00247545" "00000" "Familial, autosomal recessive" "49y" "trauma induced blisters; atrophy on the dorsal aspects of hands and feet; photo sensitivity; mild webbing/sclerodermiform fingers; oral bleeding; dysphagia; no intestine symptoms; no anal symptoms; urogenital bleeding, fissures; no ocular symptoms; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000186874" "01510" "00247627" "00000" "-" "" "Squamous cell carcinomas: on the right shoulder at 42y, on the upper lip at 45y, dorsum of the right hand at 49y" "" "49y" "" "" "" "" "" "" "" "" "" "0000186875" "01510" "00247542" "00000" "Familial, autosomal recessive" "" "" "" "4y" "" "" "" "" "" "" "" "" "" "0000186876" "01510" "00247573" "00000" "-" "" "" "" "4y" "" "" "" "" "" "" "" "" "" "0000186877" "01510" "00247614" "00000" "-" "" "" "" "4y" "" "" "" "" "" "" "" "" "" "0000186878" "01510" "00247657" "00000" "Familial, autosomal recessive" "04y" "trauma induced blisters; atrophy on the dorsal aspects of hands and feet; photo sensitivity; no webbing/pseudoainhum hands/feet; no oral symptoms; no esophageal symptoms; no intestine symptoms; anal bleeding, fissures; no urogenital symptoms; no ocular symptoms; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000186879" "01510" "00247662" "00000" "Familial, autosomal recessive" "04y" "" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000186880" "01510" "00247540" "00000" "-" "" "" "" "50y" "" "" "" "" "" "" "" "" "" "0000186881" "01510" "00247646" "00000" "Familial, autosomal recessive" "51y" "no trauma induced blisters; atrophy on the dorsal aspects of hands and feet, localized poikiloderma; no photo sensitivity; mild webbing/sclerodermiform fingers; oral bleeding; dysphagia; no intestine symptoms; no anal symptoms; no urogenital symptoms; ectropion; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000186882" "01510" "00247537" "00000" "-" "" "Squamous cell carcinoma of the lower lip" "" "52y" "" "" "" "" "" "" "" "" "" "0000186883" "01510" "00247533" "00000" "-" "" "Two squamous cell carcinoma of the hands and squamous cell carcinoma of the lower lip" "" "53y" "" "" "" "" "" "" "" "" "" "0000186884" "01510" "00247549" "00000" "-" "" "Squamous carcinoma of the left hand, recurrence, amputation" "" "57y" "" "" "" "" "" "" "" "" "" "0000186885" "01510" "00247575" "00000" "-" "" "" "" "57y" "" "" "" "" "" "" "" "" "" "0000186886" "01510" "00247528" "00000" "-" "" "" "" "58y" "" "" "" "" "" "" "" "" "" "0000186887" "01510" "00247648" "00000" "-" "" "Squamous cell carcinoma of the hand" "" "58y" "" "" "" "" "" "" "" "" "" "0000186888" "01510" "00247669" "00000" "-" "" "" "" "5d" "" "" "" "" "" "" "" "" "" "0000186889" "01510" "00247607" "00000" "-" "" "" "" "5y" "" "" "" "" "" "" "" "" "" "0000186890" "01510" "00247613" "00000" "-" "" "" "" "5y" "" "" "" "" "" "" "" "" "" "0000186891" "01510" "00247651" "00000" "-" "" "" "" "5y" "" "" "" "" "" "" "" "" "" "0000186892" "01510" "00247574" "00000" "-" "" "Squamous cell carcinoma of the upper lip at 43y and squamous cell carcinoma of the penis at 45y" "" "60y" "" "" "" "" "" "" "" "" "" "0000186893" "01510" "00247546" "00000" "-" "" "Actinic keratoses" "" "62y" "" "" "" "" "" "" "" "" "" "0000186894" "01510" "00247609" "00000" "-" "" "" "" "6m" "" "" "" "" "" "" "" "" "" "0000186895" "01510" "00247521" "00000" "-" "" "" "" "6y" "" "" "" "" "" "" "" "" "" "0000186896" "01510" "00247562" "00000" "-" "" "" "" "6y" "" "" "" "" "" "" "" "" "" "0000186897" "01510" "00247617" "00000" "-" "" "" "" "6y" "" "" "" "" "" "" "" "" "" "0000186898" "01510" "00247548" "00000" "-" "" "Squamous cell carcinoma of the hand" "" "70y" "" "" "" "" "" "" "" "" "" "0000186899" "01510" "00247530" "00000" "Familial, autosomal recessive" "07y" "trauma induced blisters; atrophy on the dorsal aspects of hands and feet; no photo sensitivity; no webbing/pseudoainhum hands/feet; periodontitis/microstoma; no esophageal symptoms; no intestine symptoms; no anal symptoms; no urogenital symptoms; no ocular symptoms; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000186900" "01510" "00247539" "00000" "-" "" "" "" "7y" "" "" "" "" "" "" "" "" "" "0000186901" "01510" "00247571" "00000" "-" "" "" "" "7y" "" "" "" "" "" "" "" "" "" "0000186902" "01510" "00247620" "00000" "Familial, autosomal recessive" "" "" "" "7y" "" "" "" "" "" "" "" "" "" "0000186903" "01510" "00247652" "00000" "-" "" "" "" "7y" "" "" "" "" "" "" "" "" "" "0000186905" "01510" "00247584" "00000" "-" "" "" "" "8y" "" "" "" "" "" "" "" "" "" "0000186906" "01510" "00247585" "00000" "Familial, autosomal recessive" "" "Revertant mosaicism" "" "8y" "" "" "" "" "" "" "" "" "" "0000186907" "01510" "00247568" "03030" "Familial, autosomal recessive" "" "Trauma induced blisters; Poikiloderma; Skin atrophy; Photosensitivity; Esophageal stricture; Constipation; Acrokeratosis;" "" "9y" "" "" "" "" "" "" "" "" "" "0000186908" "01510" "00247601" "00000" "-" "" "" "" "9y" "" "" "" "" "" "" "" "" "" "0000186909" "01510" "00247649" "00000" "-" "" "" "" "9y" "" "" "" "" "" "" "" "" "" "0000186910" "01510" "00247673" "00000" "-" "" "" "" "9y" "" "" "" "" "" "" "" "" "" "0000186911" "01510" "00247522" "00000" "Familial, autosomal recessive" "" "skin fragility and blistering located over areas exposed to pressure; atrophic and hyperpigmented skin areas, mainly involving sun‐exposed sites; severe dental caries;anal stenosis and phimosis (treated with recurrent catheterization)" "" "" "" "" "" "" "" "" "" "" "" "0000186912" "01510" "00247590" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186913" "01510" "00247591" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186914" "01510" "00247592" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186915" "01510" "00247593" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186916" "01510" "00247635" "03034" "Familial, autosomal recessive" "12y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000186917" "01510" "00247671" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000232938" "01510" "00307133" "00006" "Familial, autosomal recessive" "2y" "see paper; ..." "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000232939" "01510" "00307134" "00006" "Familial, autosomal recessive" "4y" "see paper; ..." "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000232940" "01510" "00307135" "00006" "Familial, autosomal recessive" "29y" "see paper; ..." "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000232941" "01510" "00307136" "00006" "Familial, autosomal recessive" "58y" "see paper; ..." "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244614" "01510" "00326146" "00006" "Familial, autosomal recessive" "2y" "trauma induced blisters; atrophy on the dorsal aspects of hands and feet; photo sensitivity; no webbing/pseudoainhum hands/feet; no oral symptoms; no esophageal symptoms; no intestine symptoms; no anal symptoms; no urogenital symptoms; no ocular symptoms; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244615" "01510" "00326147" "00006" "Familial, autosomal recessive" "3y" "trauma induced blisters; atrophy on the dorsal aspects of hands and feet; no photo sensitivity; no webbing/pseudoainhum hands/feet; no oral symptoms; no esophageal symptoms; no intestine symptoms; no anal symptoms; no urogenital symptoms; no ocular symptoms; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244616" "01510" "00326148" "00006" "Familial, autosomal recessive" "6y" "trauma induced blisters; atrophy on the dorsal aspects of hands and feet; photo sensitivity; no webbing/pseudoainhum hands/feet; no oral symptoms; no esophageal symptoms; no intestine symptoms; no anal symptoms; no urogenital symptoms; no ocular symptoms; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244617" "01510" "00326149" "00006" "Familial, autosomal recessive" "6y" "trauma induced blisters; atrophy on the dorsal aspects of hands and feet; photo sensitivity; no webbing/pseudoainhum hands/feet; oral bleeding; no esophageal symptoms; colitis/diarhoea; no anal symptoms; no urogenital symptoms; no ocular symptoms; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244618" "01510" "00326150" "00006" "Familial, autosomal recessive" "10y" "trauma induced blisters; no atrophy/poikiloderma; no photo sensitivity; no webbing/pseudoainhum hands/feet; periodontitis/microstoma; no esophageal symptoms; no intestine symptoms; no anal symptoms; no urogenital symptoms; no ocular symptoms; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244619" "01510" "00326151" "00006" "Familial, autosomal recessive" "10y" "trauma induced blisters; atrophy on the dorsal aspects of hands and feet, localized poikiloderma; no photo sensitivity; no webbing/pseudoainhum hands/feet; no oral symptoms; no esophageal symptoms; no intestine symptoms; no anal symptoms; no urogenital symptoms; no ocular symptoms; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244620" "01510" "00326152" "00006" "Familial, autosomal recessive" "11y" "trauma induced blisters; atrophy on the dorsal aspects of hands and feet; photo sensitivity; no webbing/pseudoainhum hands/feet; oral bleeding; no esophageal symptoms; colitis/diarhoea; no anal symptoms; no urogenital symptoms; no ocular symptoms; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244621" "01510" "00326153" "00006" "Familial, autosomal recessive" "11y" "no trauma induced blisters; atrophy on the dorsal aspects of hands and feet; photo sensitivity; no webbing/pseudoainhum hands/feet; no oral symptoms; dysphagia; no intestine symptoms; anal bleeding, fissures; no urogenital symptoms; no ocular symptoms; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244622" "01510" "00326154" "00006" "Familial, autosomal recessive" "13y" "no trauma induced blisters; atrophy on the dorsal aspects of hands and feet; photo sensitivity; mild webbing/sclerodermiform fingers; oral bleeding; dysphagia; colitis/diarhoea; no anal symptoms; urogenital bleeding, fissures; no ocular symptoms; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244623" "01510" "00326155" "00006" "Familial, autosomal recessive" "13y" "trauma induced blisters; atrophy on the dorsal aspects of hands and feet; photo sensitivity; mild webbing/sclerodermiform fingers; oral bleeding; esophageal stenosis, requiring frequent dilatations or surgery; no intestine symptoms; anal bleeding, fissures; no urogenital symptoms; no ocular symptoms; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244624" "01510" "00326156" "00006" "Familial, autosomal recessive" "15y" "no trauma induced blisters; atrophy on the dorsal aspects of hands and feet; no photo sensitivity; no webbing/pseudoainhum hands/feet; no oral symptoms; no esophageal symptoms; colitis/diarhoea; anal bleeding, fissures; no urogenital symptoms; no ocular symptoms; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244625" "01510" "00326157" "00006" "Familial, autosomal recessive" "16y" "trauma induced blisters; atrophy on the dorsal aspects of hands and feet, localized poikiloderma; photo sensitivity; no webbing/pseudoainhum hands/feet; oral bleeding; no esophageal symptoms; no intestine symptoms; no anal symptoms; no urogenital symptoms; no ocular symptoms; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244626" "01510" "00326158" "00006" "Familial, autosomal recessive" "16y" "trauma induced blisters; atrophy on the dorsal aspects of hands and feet, localized poikiloderma; photo sensitivity; mild webbing/sclerodermiform fingers; periodontitis/microstoma; no esophageal symptoms; no intestine symptoms; no anal symptoms; no urogenital symptoms; no ocular symptoms; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244627" "01510" "00326159" "00006" "Familial, autosomal recessive" "17y" "trauma induced blisters; atrophy on the dorsal aspects of hands and feet, localized poikiloderma; photo sensitivity; mild webbing/sclerodermiform fingers; periodontitis/microstoma; no esophageal symptoms; no intestine symptoms; no anal symptoms; no urogenital symptoms; no ocular symptoms; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244628" "01510" "00326160" "00006" "Familial, autosomal recessive" "17y" "no trauma induced blisters; atrophy on the dorsal aspects of hands and feet; no photo sensitivity; no webbing/pseudoainhum hands/feet; oral bleeding; dysphagia; no intestine symptoms; no anal symptoms; no urogenital symptoms; no ocular symptoms; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244629" "01510" "00326161" "00006" "Familial, autosomal recessive" "18y" "no trauma induced blisters; atrophy on the dorsal aspects of hands and feet; photo sensitivity; mild webbing/sclerodermiform fingers; oral bleeding; no esophageal symptoms; no intestine symptoms; no anal symptoms; no urogenital symptoms; no ocular symptoms; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244630" "01510" "00326162" "00006" "Familial, autosomal recessive" "18y" "no trauma induced blisters; atrophy on the dorsal aspects of hands and feet; no photo sensitivity; mild webbing/sclerodermiform fingers; oral bleeding; dysphagia; no intestine symptoms; anal bleeding, fissures; no urogenital symptoms; no ocular symptoms; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244631" "01510" "00326163" "00006" "Familial, autosomal recessive" "18y" "trauma induced blisters; atrophy on the dorsal aspects of hands and feet; photo sensitivity; no webbing/pseudoainhum hands/feet; oral bleeding; no esophageal symptoms; colitis/diarhoea; no anal symptoms; no urogenital symptoms; no ocular symptoms; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244632" "01510" "00326164" "00006" "Familial, autosomal recessive" "18y" "no trauma induced blisters; atrophy on the dorsal aspects of hands and feet, localized poikiloderma; photo sensitivity; mild webbing/sclerodermiform fingers; no oral symptoms; no esophageal symptoms; no intestine symptoms; no anal symptoms; no urogenital symptoms; no ocular symptoms; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244633" "01510" "00326165" "00006" "Familial, autosomal recessive" "19y" "no trauma induced blisters; atrophy on the dorsal aspects of hands and feet; photo sensitivity; no webbing/pseudoainhum hands/feet; no oral symptoms; dysphagia; no intestine symptoms; no anal symptoms; no urogenital symptoms; no ocular symptoms; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244634" "01510" "00326166" "00006" "Familial, autosomal recessive" "20y" "no trauma induced blisters; atrophy on the dorsal aspects of hands and feet; photo sensitivity; mild webbing/sclerodermiform fingers; oral bleeding; dysphagia; no intestine symptoms; no anal symptoms; no urogenital symptoms; no ocular symptoms; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244635" "01510" "00326167" "00006" "Familial, autosomal recessive" "21y" "no trauma induced blisters; atrophy on the dorsal aspects of hands and feet, disseminated poikiloderma; no photo sensitivity; severe webbing, contractures and/or pseudoainhum; periodontitis/microstoma; esophageal stenosis, requiring frequent dilatations or surgery; no intestine symptoms; no anal symptoms; urogenital stenosis; no ocular symptoms; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244636" "01510" "00326168" "00006" "Familial, autosomal recessive" "21y" "no trauma induced blisters; atrophy on the dorsal aspects of hands and feet, disseminated poikiloderma; photo sensitivity; severe webbing, contractures and/or pseudoainhum; periodontitis/microstoma; esophageal stenosis, requiring frequent dilatations or surgery; colitis/diarhoea; anal stenosis; no urogenital symptoms; ectropion; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244637" "01510" "00326169" "00006" "Familial, autosomal recessive" "21y" "trauma induced blisters; atrophy on the dorsal aspects of hands and feet; photo sensitivity; no webbing/pseudoainhum hands/feet; oral bleeding; dysphagia; no intestine symptoms; anal bleeding, fissures; no urogenital symptoms; ectropion; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244638" "01510" "00326170" "00006" "Familial, autosomal recessive" "22y" "no trauma induced blisters; atrophy on the dorsal aspects of hands and feet; no photo sensitivity; no webbing/pseudoainhum hands/feet; oral bleeding; no esophageal symptoms; colitis/diarhoea; no anal symptoms; no urogenital symptoms; no ocular symptoms; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244639" "01510" "00326171" "00006" "Familial, autosomal recessive" "23y" "no trauma induced blisters; atrophy on the dorsal aspects of hands and feet; photo sensitivity; mild webbing/sclerodermiform fingers; oral bleeding; no esophageal symptoms; no intestine symptoms; no anal symptoms; no urogenital symptoms; ectropion; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244640" "01510" "00326172" "00006" "Familial, autosomal recessive" "25y" "no trauma induced blisters; atrophy on the dorsal aspects of hands and feet, localized poikiloderma; no photo sensitivity; no webbing/pseudoainhum hands/feet; oral bleeding; esophageal stenosis, requiring frequent dilatations or surgery; no intestine symptoms; no anal symptoms; no urogenital symptoms; ectropion; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244641" "01510" "00326173" "00006" "Familial, autosomal recessive" "25y" "trauma induced blisters; atrophy on the dorsal aspects of hands and feet, disseminated poikiloderma; photo sensitivity; mild webbing/sclerodermiform fingers; periodontitis/microstoma; esophageal stenosis, requiring frequent dilatations or surgery; no intestine symptoms; anal bleeding, fissures; urogenital bleeding, fissures; no ocular symptoms; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244642" "01510" "00326174" "00006" "Familial, autosomal recessive" "28y" "no trauma induced blisters; atrophy on the dorsal aspects of hands and feet; photo sensitivity; no webbing/pseudoainhum hands/feet; oral bleeding; no esophageal symptoms; no intestine symptoms; no anal symptoms; no urogenital symptoms; no ocular symptoms; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244643" "01510" "00326175" "00006" "Familial, autosomal recessive" "28y" "no trauma induced blisters; atrophy on the dorsal aspects of hands and feet, disseminated poikiloderma; no photo sensitivity; severe webbing, contractures and/or pseudoainhum; periodontitis/microstoma; dysphagia; no intestine symptoms; anal bleeding, fissures; urogenital stenosis; ectropion; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244644" "01510" "00326176" "00006" "Familial, autosomal recessive" "29y" "no trauma induced blisters; atrophy on the dorsal aspects of hands and feet, disseminated poikiloderma; no photo sensitivity; severe webbing, contractures and/or pseudoainhum; periodontitis/microstoma; esophageal stenosis, requiring frequent dilatations or surgery; colitis/diarhoea, childhood surgery for Hirschsprung disease; anal stenosis; urogenital bleeding, fissures; ectropion; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244645" "01510" "00326177" "00006" "Familial, autosomal recessive" "36y" "trauma induced blisters; atrophy on the dorsal aspects of hands and feet, disseminated poikiloderma; photo sensitivity; mild webbing/sclerodermiform fingers; periodontitis/microstoma; no esophageal symptoms; no intestine symptoms; anal stenosis; urogenital stenosis; no ocular symptoms; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244646" "01510" "00326178" "00006" "Familial, autosomal recessive" "36y" "no trauma induced blisters; atrophy on the dorsal aspects of hands and feet, localized poikiloderma; photo sensitivity; mild webbing/sclerodermiform fingers; oral bleeding; dysphagia; no intestine symptoms; anal bleeding, fissures; no urogenital symptoms; ectropion; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244647" "01510" "00326179" "00006" "Familial, autosomal recessive" "36y" "no trauma induced blisters; atrophy on the dorsal aspects of hands and feet, disseminated poikiloderma; no webbing/pseudoainhum hands/feet; periodontitis/microstoma; ectropion;" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244648" "01510" "00326180" "00006" "Familial, autosomal recessive" "37y" "trauma induced blisters; atrophy on the dorsal aspects of hands and feet; photo sensitivity; mild webbing/sclerodermiform fingers; periodontitis/microstoma; esophageal stenosis, requiring frequent dilatations or surgery; no intestine symptoms; no anal symptoms; urogenital bleeding, fissures; no ocular symptoms; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244649" "01510" "00326181" "00006" "Familial, autosomal recessive" "38y" "no trauma induced blisters; atrophy on the dorsal aspects of hands and feet, localized poikiloderma; photo sensitivity; mild webbing/sclerodermiform fingers; oral bleeding; dysphagia; no intestine symptoms; anal bleeding, fissures; no urogenital symptoms; ectropion; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244650" "01510" "00326182" "00006" "Familial, autosomal recessive" "40y" "trauma induced blisters; atrophy on the dorsal aspects of hands and feet, localized poikiloderma; photo sensitivity; mild webbing/sclerodermiform fingers; periodontitis/microstoma; no esophageal symptoms; no intestine symptoms; anal bleeding, fissures; urogenital bleeding, fissures; ectropion; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244651" "01510" "00326183" "00006" "Familial, autosomal recessive" "40y" "trauma induced blisters; atrophy on the dorsal aspects of hands and feet, localized poikiloderma; photo sensitivity; severe webbing, contractures and/or pseudoainhum; periodontitis/microstoma; no esophageal symptoms; no intestine symptoms; anal bleeding, fissures; urogenital bleeding, fissures; ectropion; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244652" "01510" "00326184" "00006" "Familial, autosomal recessive" "41y" "no trauma induced blisters; atrophy on the dorsal aspects of hands and feet, localized poikiloderma; photo sensitivity; mild webbing/sclerodermiform fingers; periodontitis/microstoma; no esophageal symptoms; no intestine symptoms; no anal symptoms; no urogenital symptoms; ectropion; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244653" "01510" "00326185" "00006" "Familial, autosomal recessive" "42y" "no trauma induced blisters; atrophy on the dorsal aspects of hands and feet, localized poikiloderma; photo sensitivity; mild webbing/sclerodermiform fingers; oral bleeding; dysphagia; no intestine symptoms; no anal symptoms; no urogenital symptoms; no ocular symptoms; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244654" "01510" "00326186" "00006" "Familial, autosomal recessive" "48y" "no trauma induced blisters; atrophy on the dorsal aspects of hands and feet, localized poikiloderma; photo sensitivity; mild webbing/sclerodermiform fingers; oral bleeding; no esophageal symptoms; no intestine symptoms; no anal symptoms; no urogenital symptoms; ectropion, keratitis; epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244655" "01510" "00326187" "00006" "Familial, autosomal recessive" "50y" "no trauma induced blisters; atrophy on the dorsal aspects of hands and feet, disseminated poikiloderma; photo sensitivity; mild webbing/sclerodermiform fingers; oral bleeding; esophageal stenosis, requiring frequent dilatations or surgery; no intestine symptoms; anal bleeding, fissures; urogenital bleeding, fissures; ectropion, keratitis; no epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244656" "01510" "00326188" "00006" "Familial, autosomal recessive" "52y" "no trauma induced blisters; atrophy on the dorsal aspects of hands and feet, localized poikiloderma; photo sensitivity; mild webbing/sclerodermiform fingers; periodontitis/microstoma; dysphagia; no intestine symptoms; no anal symptoms; epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244657" "01510" "00326189" "00006" "Familial, autosomal recessive" "53y" "trauma induced blisters; atrophy on the dorsal aspects of hands and feet, localized poikiloderma; photo sensitivity; mild webbing/sclerodermiform fingers; oral bleeding; dysphagia; no intestine symptoms; anal bleeding, fissures; no urogenital symptoms; ectropion; epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244658" "01510" "00326190" "00006" "Familial, autosomal recessive" "58y" "trauma induced blisters; atrophy on the dorsal aspects of hands and feet, localized poikiloderma; photo sensitivity; severe webbing, contractures and/or pseudoainhum; oral bleeding; dysphagia; no intestine symptoms; no anal symptoms; urogenital stenosis; no ocular symptoms; epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244659" "01510" "00326191" "00006" "Familial, autosomal recessive" "58y" "no trauma induced blisters; atrophy on the dorsal aspects of hands and feet, disseminated poikiloderma; photo sensitivity; severe webbing, contractures and/or pseudoainhum; periodontitis/microstoma; esophageal stenosis, requiring frequent dilatations or surgery; no intestine symptoms; anal bleeding, fissures; urogenital bleeding, fissures; ectropion; epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244660" "01510" "00326192" "00006" "Familial, autosomal recessive" "62y" "no trauma induced blisters; atrophy on the dorsal aspects of hands and feet, localized poikiloderma; photo sensitivity; mild webbing/sclerodermiform fingers; periodontitis/microstoma; dysphagia; no intestine symptoms; anal stenosis; urogenital bleeding, fissures; ectropion, keratitis; epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244661" "01510" "00326193" "00006" "Familial, autosomal recessive" "70y" "no trauma induced blisters; atrophy on the dorsal aspects of hands and feet, localized poikiloderma; photo sensitivity; mild webbing/sclerodermiform fingers; periodontitis/microstoma; esophageal stenosis, requiring frequent dilatations or surgery; colitis/diarhoea; anal bleeding, fissures; no urogenital symptoms; ectropion; epithelial skin cancer" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244662" "01510" "00326194" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244663" "01510" "00326195" "00006" "Familial, autosomal recessive" "26y" "" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244664" "01510" "00326196" "00006" "Familial, autosomal recessive" "32y" "blisters; poikiloderma; photosensitivity; palmoplantar keratoses; nail dystrophy; webbing fingers; contractures fingers; periodontitis, loss of teeth; ectropion; no esophageal stenosis; urethral stenosis, constipation; no squamous cell carcinoma" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244665" "01510" "00326197" "00006" "Familial, autosomal recessive" "28y" "blisters; poikiloderma; photosensitivity; palmoplantar keratoses; nail dystrophy; webbing fingers; contractures fingers; periodontitis, loss of teeth; no ectropion; no esophageal stenosis; 1d-vaginal atresia, anal atresia, amenorrhoea, fused labia majora and minora, vaginal aplasia; atretic ovarial follicles; no squamous cell carcinoma" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000244666" "01510" "00326198" "00006" "Familial, autosomal recessive" "56y" "blisters; poikiloderma; photosensitivity; no palmoplantar keratoses; nail dystrophy; webbing fingers; contractures fingers; periodontitis, loss of teeth; ectropion; esophageal stenosis; constipation; squamous cell carcinoma left hand" "" "" "" "" "" "" "" "" "KNDLRS" "Kindler syndrome" "" "0000295861" "04187" "00403114" "00006" "Familial, autosomal recessive" "" "see paper; ..., primary amenorrhea, hypothyroidism, hypergonadotropic hypogonadism" "" "" "" "" "" "" "" "" "POF10" "ovarian failure" "" "0000310837" "00198" "00419556" "02300" "Familial, autosomal recessive" "9y" "" "" "" "" "" "" "" "" "" "" "dermatological abnormality" "" "0000310838" "00198" "00419557" "02300" "Familial, autosomal recessive" "1y" "" "" "" "" "" "" "" "" "" "" "dermatological abnormality" "" "0000311198" "01510" "00419930" "04013" "Familial, autosomal recessive" "" "Blisters in the skin and mucous membranes right after the birth. Progressive poikiloderma, pseudosyndactyly. Oral mucosa erosion, strong gingivitis, dysphagia, esophagostenosis, colonic inflammation." "00y02m" ">48y" "" "Kindlin1" "" "" "" "" "Kindler Sindrom" "Epidermolysis bullosa" "" ## Screenings ## Do not remove or alter this header ## ## Count = 226 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000248624" "00247519" "1" "00000" "03074" "2015-01-28 18:40:53" "" "" "SEQ" "DNA" "" "" "0000248625" "00247520" "1" "03031" "03031" "2016-03-06 20:47:06" "" "" "PCRm" "DNA" "" "" "0000248626" "00247521" "1" "00000" "03074" "2011-05-23 17:32:10" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248627" "00247522" "1" "00000" "03074" "2015-01-28 18:20:40" "03074" "2015-01-28 18:24:54" "SEQ" "DNA" "" "" "0000248628" "00247523" "1" "00000" "03074" "2015-01-28 18:29:27" "" "" "SEQ" "DNA" "" "" "0000248629" "00247524" "1" "00000" "03074" "2011-06-03 12:29:47" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248630" "00247525" "1" "00000" "03074" "2011-05-23 17:25:14" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248631" "00247526" "1" "00000" "03074" "2011-05-23 17:27:33" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248632" "00247527" "1" "00000" "03074" "2011-05-23 17:29:04" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248633" "00247528" "1" "00000" "03074" "2011-05-31 17:37:44" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248634" "00247529" "1" "00000" "03074" "2011-05-30 12:53:39" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248635" "00247530" "1" "00000" "03074" "2011-05-30 13:24:10" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248636" "00247531" "1" "00000" "03074" "2011-05-31 17:08:18" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248637" "00247532" "1" "00000" "03074" "2011-05-31 17:19:26" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248638" "00247533" "1" "00000" "03074" "2011-05-31 17:35:48" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248639" "00247534" "1" "00000" "03074" "2015-01-28 18:32:59" "" "" "SEQ" "DNA" "" "" "0000248640" "00247535" "1" "00000" "03074" "2011-06-03 12:03:22" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248641" "00247536" "1" "00000" "03074" "2011-06-03 09:10:32" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248642" "00247537" "1" "00000" "03074" "2011-05-13 16:37:58" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248643" "00247538" "1" "00000" "03074" "2015-01-28 18:05:34" "03074" "2015-01-28 18:25:46" "SEQ" "DNA" "" "" "0000248644" "00247539" "1" "00000" "03074" "2011-06-03 09:27:05" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248645" "00247540" "1" "00000" "03074" "2011-05-31 17:28:31" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248646" "00247541" "1" "00000" "03074" "2011-05-13 16:35:44" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248647" "00247542" "1" "00000" "03074" "2013-02-18 13:22:06" "" "" "SEQ" "DNA" "" "" "0000248648" "00247543" "1" "00000" "03074" "2011-05-23 17:49:24" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248649" "00247544" "1" "00000" "03074" "2011-05-23 17:51:12" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248650" "00247545" "1" "00000" "03074" "2011-05-31 17:25:02" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248651" "00247546" "1" "00000" "03074" "2011-05-13 16:29:57" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248652" "00247547" "1" "00000" "03074" "2011-05-13 16:42:22" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248653" "00247548" "1" "00000" "03074" "2011-06-01 08:59:54" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248654" "00247549" "1" "00000" "03074" "2011-08-29 14:09:05" "03074" "2011-08-31 11:34:49" "SEQ" "DNA" "" "" "0000248655" "00247550" "1" "03030" "03030" "2015-01-28 03:52:30" "03030" "2015-01-28 20:53:31" "SEQ" "DNA" "" "" "0000248656" "00247551" "1" "00000" "03074" "2015-01-28 18:53:31" "" "" "SEQ" "DNA" "" "" "0000248657" "00247552" "1" "00000" "03074" "2011-05-31 17:46:46" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248658" "00247553" "1" "00000" "03074" "2011-06-03 10:20:04" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248659" "00247554" "1" "00000" "03074" "2011-05-23 17:39:33" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248660" "00247555" "1" "00000" "03074" "2011-05-23 17:53:02" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248661" "00247556" "1" "00000" "03074" "2011-06-03 09:33:49" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248662" "00247557" "1" "00000" "03074" "2011-05-23 11:30:31" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248663" "00247558" "1" "00000" "03074" "2011-05-30 12:43:34" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248664" "00247559" "1" "00000" "03074" "2011-05-31 16:27:49" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248665" "00247560" "1" "00000" "03074" "2011-05-31 16:38:03" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248666" "00247561" "1" "00000" "03074" "2011-05-13 16:07:11" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248667" "00247562" "1" "00000" "03074" "2011-05-30 13:20:24" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248668" "00247563" "1" "00000" "03074" "2011-05-30 13:31:37" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248669" "00247564" "1" "00000" "03074" "2011-06-03 10:09:33" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248670" "00247565" "1" "00000" "03074" "2011-06-03 10:11:03" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248671" "00247566" "1" "03030" "03030" "2015-01-27 22:50:43" "03030" "2015-01-28 20:49:23" "SEQ" "DNA" "" "" "0000248672" "00247567" "1" "00000" "03074" "2011-05-23 17:55:34" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248673" "00247568" "1" "03030" "03030" "2015-01-28 03:07:28" "03030" "2015-01-28 20:52:06" "SEQ" "DNA" "" "" "0000248674" "00247569" "1" "00000" "03074" "2011-05-23 11:46:18" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248675" "00247570" "1" "00000" "03074" "2011-05-23 11:49:39" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248676" "00247571" "1" "00000" "03074" "2011-06-01 09:26:11" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248677" "00247572" "1" "00000" "03074" "2011-06-01 09:27:29" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248678" "00247573" "1" "00000" "03074" "2011-06-03 09:39:47" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248679" "00247574" "1" "00000" "03074" "2011-06-03 09:45:24" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248680" "00247575" "1" "00000" "03074" "2011-06-03 09:47:43" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248681" "00247576" "1" "00000" "03074" "2011-08-31 12:03:35" "" "" "SEQ" "DNA" "" "" "0000248682" "00247577" "1" "00000" "03074" "2011-08-31 12:06:14" "" "" "SEQ" "DNA" "" "" "0000248683" "00247578" "1" "00000" "03074" "2011-08-31 12:09:31" "" "" "SEQ" "DNA" "" "" "0000248684" "00247579" "1" "00000" "03074" "2011-08-31 12:11:45" "" "" "SEQ" "DNA" "" "" "0000248685" "00247580" "1" "00000" "03074" "2011-08-31 12:13:40" "" "" "SEQ" "DNA" "" "" "0000248686" "00247581" "1" "00000" "03074" "2011-08-31 12:15:18" "" "" "SEQ" "DNA" "" "" "0000248687" "00247582" "1" "00000" "03074" "2011-08-31 12:17:04" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248688" "00247583" "1" "00000" "03074" "2011-08-31 12:18:54" "" "" "SEQ" "DNA" "" "" "0000248689" "00247584" "1" "00000" "03074" "2012-04-04 17:18:15" "" "" "SEQ" "DNA" "" "" "0000248690" "00247585" "1" "00000" "03074" "2012-05-31 14:54:44" "" "" "SEQ" "DNA" "" "" "0000248691" "00247586" "1" "00000" "03074" "2012-05-31 15:07:28" "" "" "SEQ" "DNA" "" "" "0000248692" "00247587" "1" "00000" "03074" "2012-05-31 15:10:24" "" "" "SEQ" "DNA" "" "" "0000248693" "00247588" "1" "00000" "03074" "2012-05-31 15:12:47" "" "" "SEQ" "DNA" "" "" "0000248694" "00247589" "1" "00000" "03074" "2012-05-31 15:14:36" "" "" "SEQ" "DNA" "" "" "0000248695" "00247590" "1" "00000" "03074" "2012-05-31 15:16:08" "" "" "SEQ" "DNA" "" "" "0000248696" "00247591" "1" "00000" "03074" "2012-05-31 15:18:05" "" "" "SEQ" "DNA" "" "" "0000248697" "00247592" "1" "00000" "03074" "2012-05-31 15:19:42" "" "" "SEQ" "DNA" "" "" "0000248698" "00247593" "1" "00000" "03074" "2013-02-18 13:17:02" "03074" "2013-02-18 13:17:35" "SEQ" "DNA" "" "" "0000248699" "00247594" "1" "03030" "03030" "2015-01-28 04:10:11" "03030" "2015-01-28 20:56:14" "SEQ" "DNA" "" "" "0000248700" "00247595" "1" "00000" "03074" "2011-06-03 09:23:38" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248701" "00247596" "1" "00000" "03074" "2011-05-31 14:43:00" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248702" "00247597" "1" "00000" "03074" "2011-05-31 16:29:38" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248703" "00247598" "1" "00000" "03074" "2011-05-31 16:50:07" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248704" "00247599" "1" "00000" "03074" "2011-05-23 11:34:14" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248705" "00247600" "1" "00000" "03074" "2011-05-23 17:58:00" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248706" "00247601" "1" "00000" "03074" "2011-05-24 08:43:27" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248707" "00247602" "1" "00000" "03074" "2011-05-24 08:45:20" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248708" "00247603" "1" "00000" "03074" "2011-05-24 08:49:45" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248709" "00247604" "1" "00000" "03074" "2011-05-24 08:51:40" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248710" "00247605" "1" "00000" "03074" "2011-05-24 08:53:07" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248711" "00247606" "1" "00000" "03074" "2011-05-24 08:54:29" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248712" "00247607" "1" "00000" "03074" "2011-05-24 08:56:13" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248713" "00247608" "1" "00000" "03074" "2011-05-24 09:03:43" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248714" "00247609" "1" "00000" "03074" "2011-05-24 09:04:50" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248715" "00247610" "1" "00000" "03074" "2011-05-24 09:08:04" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248716" "00247611" "1" "00000" "03074" "2011-05-24 09:09:22" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248717" "00247612" "1" "00000" "03074" "2011-05-24 09:10:30" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248718" "00247613" "1" "00000" "03074" "2011-05-24 09:12:08" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248719" "00247614" "1" "00000" "03074" "2011-05-30 12:09:24" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248720" "00247615" "1" "00000" "03074" "2011-05-30 12:14:31" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248721" "00247616" "1" "00000" "03074" "2011-05-30 12:20:00" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248722" "00247617" "1" "00000" "03074" "2011-06-03 10:05:01" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248723" "00247618" "1" "00000" "03074" "2011-06-03 12:06:58" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248724" "00247619" "1" "00000" "03074" "2011-06-03 12:09:08" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248725" "00247620" "1" "00000" "03074" "2013-02-18 13:25:15" "03074" "2015-01-28 18:43:25" "SEQ" "DNA" "" "" "0000248726" "00247621" "1" "03030" "03030" "2015-01-27 23:07:51" "03030" "2015-01-28 20:50:26" "SEQ" "DNA" "" "" "0000248727" "00247622" "1" "00000" "03074" "2011-06-03 11:46:39" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248728" "00247623" "1" "00000" "03074" "2011-05-13 15:51:03" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248729" "00247624" "1" "00000" "03074" "2011-05-23 10:52:58" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248730" "00247625" "1" "00000" "03074" "2011-06-03 11:48:27" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248731" "00247626" "1" "00000" "03074" "2011-06-03 11:51:24" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248732" "00247627" "1" "00000" "03074" "2011-08-31 13:11:39" "" "" "SEQ" "DNA" "" "" "0000248733" "00247628" "1" "03030" "03030" "2015-01-28 03:47:05" "03030" "2015-01-28 20:53:01" "SEQ" "DNA" "" "" "0000248734" "00247629" "1" "03030" "03030" "2015-01-27 23:36:33" "" "" "SEQ" "DNA" "" "" "0000248735" "00247630" "1" "00000" "03074" "2011-05-31 17:02:28" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248736" "00247631" "1" "00000" "03074" "2011-05-31 17:12:47" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248737" "00247632" "1" "00000" "03074" "2011-05-31 17:16:52" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248738" "00247633" "1" "00000" "03074" "2011-05-31 17:22:44" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248739" "00247634" "1" "03030" "03030" "2015-01-28 03:56:44" "03030" "2015-01-28 20:54:06" "SEQ" "DNA" "" "" "0000248740" "00247635" "1" "03034" "03034" "2017-03-27 05:11:49" "" "" "PCR" "DNA" "" "" "0000248741" "00247636" "1" "00000" "03074" "2011-05-30 13:38:59" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248742" "00247637" "1" "00000" "03074" "2011-06-03 12:11:21" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248743" "00247638" "1" "00000" "03074" "2011-06-03 12:14:08" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248744" "00247639" "1" "00000" "03074" "2011-06-07 10:41:21" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248745" "00247640" "1" "00000" "03074" "2011-06-03 12:17:45" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248746" "00247641" "1" "00000" "03074" "2011-05-23 17:36:03" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248747" "00247642" "1" "00000" "03074" "2011-05-23 17:37:30" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248748" "00247643" "1" "00000" "03074" "2011-05-31 16:47:53" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248749" "00247644" "1" "03030" "03030" "2015-01-28 03:43:07" "03030" "2015-01-28 20:52:36" "SEQ" "DNA" "" "" "0000248750" "00247645" "1" "00000" "03074" "2011-06-03 12:26:12" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248751" "00247646" "1" "00000" "03074" "2011-05-31 17:34:00" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248752" "00247647" "1" "00000" "03074" "2011-05-23 11:00:14" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248753" "00247648" "1" "00000" "03074" "2011-05-23 11:27:41" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248754" "00247649" "1" "00000" "03074" "2011-06-03 09:29:55" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248755" "00247650" "1" "00000" "03074" "2011-05-23 11:09:30" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248756" "00247651" "1" "00000" "03074" "2011-08-31 14:38:21" "" "" "SEQ" "DNA" "" "" "0000248757" "00247652" "1" "00000" "03074" "2011-08-31 14:40:49" "" "" "SEQ" "DNA" "" "" "0000248758" "00247653" "1" "00000" "03074" "2011-05-30 13:51:06" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248759" "00247654" "1" "00000" "03074" "2011-05-31 16:59:40" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248760" "00247655" "1" "00000" "03074" "2011-05-31 17:04:20" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248761" "00247656" "1" "00000" "03074" "2011-05-23 17:17:08" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248762" "00247657" "1" "00000" "03074" "2011-05-30 13:16:27" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248763" "00247658" "1" "00000" "03074" "2011-05-31 16:56:48" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248764" "00247659" "1" "03030" "03030" "2015-01-28 04:00:59" "" "" "SEQ" "DNA" "" "" "0000248765" "00247660" "1" "00000" "03074" "2011-06-03 09:55:07" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248766" "00247661" "1" "00000" "03074" "2011-06-03 10:22:28" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248767" "00247662" "1" "00000" "03074" "2011-05-31 17:41:02" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248768" "00247663" "1" "00000" "03074" "2011-05-30 13:29:04" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248769" "00247664" "1" "00000" "03074" "2011-05-31 16:35:42" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248770" "00247665" "1" "00000" "03074" "2011-06-01 17:12:17" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248771" "00247666" "1" "00000" "03074" "2011-05-23 11:13:52" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248772" "00247667" "1" "00000" "03074" "2011-06-03 10:14:07" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248773" "00247668" "1" "00000" "03074" "2011-05-23 11:17:46" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248774" "00247669" "1" "00000" "03074" "2011-06-03 12:00:20" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248775" "00247670" "1" "03030" "03030" "2015-01-28 04:06:29" "" "" "SEQ" "DNA" "" "" "0000248776" "00247671" "1" "00000" "03074" "2015-03-26 12:57:17" "" "" "SEQ" "DNA" "" "" "0000248777" "00247672" "1" "00000" "03074" "2011-05-23 17:42:48" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248778" "00247673" "1" "00000" "03074" "2011-06-03 12:33:01" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248779" "00247674" "1" "00000" "03074" "2011-05-23 11:41:01" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248782" "00247677" "1" "00000" "03074" "2011-06-03 10:41:51" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248783" "00247678" "1" "00000" "03074" "2011-05-30 13:43:33" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248784" "00247679" "1" "00000" "03074" "2011-05-30 13:53:39" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000248785" "00247680" "1" "00000" "03074" "2011-08-31 14:44:47" "" "" "SEQ" "DNA" "" "" "0000248786" "00247681" "1" "00000" "03074" "2011-08-31 14:47:36" "" "" "SEQ" "DNA" "" "" "0000248787" "00247682" "1" "00000" "03074" "2011-08-31 14:49:09" "" "" "SEQ" "DNA" "" "" "0000248788" "00247683" "1" "00000" "03074" "2011-08-31 14:50:42" "" "" "SEQ" "DNA" "" "" "0000248789" "00247684" "1" "00000" "03074" "2011-08-31 14:52:27" "" "" "SEQ" "DNA" "" "" "0000248790" "00247685" "1" "00000" "03074" "2011-06-03 10:18:19" "00006" "2021-01-09 16:23:22" "?" "DNA" "" "" "0000308275" "00307133" "1" "00006" "00006" "2020-08-03 17:10:07" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000308276" "00307134" "1" "00006" "00006" "2020-08-03 17:10:07" "" "" "SEQ" "DNA" "" "" "0000308277" "00307135" "1" "00006" "00006" "2020-08-03 17:10:07" "" "" "SEQ" "DNA" "" "" "0000308278" "00307136" "1" "00006" "00006" "2020-08-03 17:10:07" "" "" "SEQ" "DNA" "" "" "0000327360" "00326146" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327361" "00326147" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327362" "00326148" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327363" "00326149" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327364" "00326150" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327365" "00326151" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327366" "00326152" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327367" "00326153" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327368" "00326154" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327369" "00326155" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327370" "00326156" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327371" "00326157" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327372" "00326158" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327373" "00326159" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327374" "00326160" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327375" "00326161" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327376" "00326162" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327377" "00326163" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327378" "00326164" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327379" "00326165" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327380" "00326166" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327381" "00326167" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327382" "00326168" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327383" "00326169" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327384" "00326170" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327385" "00326171" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327386" "00326172" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327387" "00326173" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327388" "00326174" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327389" "00326175" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327390" "00326176" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327391" "00326177" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327392" "00326178" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327393" "00326179" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327394" "00326180" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327395" "00326181" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327396" "00326182" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327397" "00326183" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327398" "00326184" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327399" "00326185" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327400" "00326186" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327401" "00326187" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327402" "00326188" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327403" "00326189" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327404" "00326190" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327405" "00326191" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327406" "00326192" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327407" "00326193" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327408" "00326194" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327409" "00326195" "1" "00006" "00006" "2021-01-09 16:35:36" "" "" "SEQ" "DNA" "" "" "0000327410" "00326196" "1" "00006" "00006" "2021-01-09 18:44:21" "" "" "PCR;SEQ" "DNA" "" "" "0000327411" "00326197" "1" "00006" "00006" "2021-01-09 18:44:21" "" "" "SEQ" "DNA" "" "" "0000327412" "00326198" "1" "00006" "00006" "2021-01-09 18:44:21" "" "" "SEQ" "DNA" "" "" "0000404355" "00403114" "1" "00006" "00006" "2022-02-16 23:10:29" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000420860" "00419556" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical exome sequencing" "0000420861" "00419557" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421235" "00419930" "1" "04013" "04013" "2022-10-27 10:00:41" "" "" "arraySEQ" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 223 "{{screeningid}}" "{{geneid}}" "0000248624" "FERMT1" "0000248625" "FERMT1" "0000248626" "FERMT1" "0000248627" "FERMT1" "0000248628" "FERMT1" "0000248629" "FERMT1" "0000248630" "FERMT1" "0000248631" "FERMT1" "0000248632" "FERMT1" "0000248633" "FERMT1" "0000248634" "FERMT1" "0000248635" "FERMT1" "0000248636" "FERMT1" "0000248637" "FERMT1" "0000248638" "FERMT1" "0000248639" "FERMT1" "0000248640" "FERMT1" "0000248641" "FERMT1" "0000248642" "FERMT1" "0000248643" "FERMT1" "0000248644" "FERMT1" "0000248645" "FERMT1" "0000248646" "FERMT1" "0000248647" "FERMT1" "0000248648" "FERMT1" "0000248649" "FERMT1" "0000248650" "FERMT1" "0000248651" "FERMT1" "0000248652" "FERMT1" "0000248653" "FERMT1" "0000248654" "FERMT1" "0000248655" "FERMT1" "0000248656" "FERMT1" "0000248657" "FERMT1" "0000248658" "FERMT1" "0000248659" "FERMT1" "0000248660" "FERMT1" "0000248661" "FERMT1" "0000248662" "FERMT1" "0000248663" "FERMT1" "0000248664" "FERMT1" "0000248665" "FERMT1" "0000248666" "FERMT1" "0000248667" "FERMT1" "0000248668" "FERMT1" "0000248669" "FERMT1" "0000248670" "FERMT1" "0000248671" "FERMT1" "0000248672" "FERMT1" "0000248673" "FERMT1" "0000248674" "FERMT1" "0000248675" "FERMT1" "0000248676" "FERMT1" "0000248677" "FERMT1" "0000248678" "FERMT1" "0000248679" "FERMT1" "0000248680" "FERMT1" "0000248681" "FERMT1" "0000248682" "FERMT1" "0000248683" "FERMT1" "0000248684" "FERMT1" "0000248685" "FERMT1" "0000248686" "FERMT1" "0000248687" "FERMT1" "0000248688" "FERMT1" "0000248689" "FERMT1" "0000248690" "FERMT1" "0000248691" "FERMT1" "0000248692" "FERMT1" "0000248693" "FERMT1" "0000248694" "FERMT1" "0000248695" "FERMT1" "0000248696" "FERMT1" "0000248697" "FERMT1" "0000248698" "FERMT1" "0000248699" "FERMT1" "0000248700" "FERMT1" "0000248701" "FERMT1" "0000248702" "FERMT1" "0000248703" "FERMT1" "0000248704" "FERMT1" "0000248705" "FERMT1" "0000248706" "FERMT1" "0000248707" "FERMT1" "0000248708" "FERMT1" "0000248709" "FERMT1" "0000248710" "FERMT1" "0000248711" "FERMT1" "0000248712" "FERMT1" "0000248713" "FERMT1" "0000248714" "FERMT1" "0000248715" "FERMT1" "0000248716" "FERMT1" "0000248717" "FERMT1" "0000248718" "FERMT1" "0000248719" "FERMT1" "0000248720" "FERMT1" "0000248721" "FERMT1" "0000248722" "FERMT1" "0000248723" "FERMT1" "0000248724" "FERMT1" "0000248725" "FERMT1" "0000248726" "FERMT1" "0000248727" "FERMT1" "0000248728" "FERMT1" "0000248729" "FERMT1" "0000248730" "FERMT1" "0000248731" "FERMT1" "0000248732" "FERMT1" "0000248733" "FERMT1" "0000248734" "FERMT1" "0000248735" "FERMT1" "0000248736" "FERMT1" "0000248737" "FERMT1" "0000248738" "FERMT1" "0000248739" "FERMT1" "0000248740" "FERMT1" "0000248741" "FERMT1" "0000248742" "FERMT1" "0000248743" "FERMT1" "0000248744" "FERMT1" "0000248745" "FERMT1" "0000248746" "FERMT1" "0000248747" "FERMT1" "0000248748" "FERMT1" "0000248749" "FERMT1" "0000248750" "FERMT1" "0000248751" "FERMT1" "0000248752" "FERMT1" "0000248753" "FERMT1" "0000248754" "FERMT1" "0000248755" "FERMT1" "0000248756" "FERMT1" "0000248757" "FERMT1" "0000248758" "FERMT1" "0000248759" "FERMT1" "0000248760" "FERMT1" "0000248761" "FERMT1" "0000248762" "FERMT1" "0000248763" "FERMT1" "0000248764" "FERMT1" "0000248765" "FERMT1" "0000248766" "FERMT1" "0000248767" "FERMT1" "0000248768" "FERMT1" "0000248769" "FERMT1" "0000248770" "FERMT1" "0000248771" "FERMT1" "0000248772" "FERMT1" "0000248773" "FERMT1" "0000248774" "FERMT1" "0000248775" "FERMT1" "0000248776" "FERMT1" "0000248777" "FERMT1" "0000248778" "FERMT1" "0000248779" "FERMT1" "0000248782" "FERMT1" "0000248783" "FERMT1" "0000248784" "FERMT1" "0000248785" "FERMT1" "0000248786" "FERMT1" "0000248787" "FERMT1" "0000248788" "FERMT1" "0000248789" "FERMT1" "0000248790" "FERMT1" "0000308275" "FERMT1" "0000308276" "FERMT1" "0000308277" "FERMT1" "0000308278" "FERMT1" "0000327360" "FERMT1" "0000327361" "FERMT1" "0000327362" "FERMT1" "0000327363" "FERMT1" "0000327364" "FERMT1" "0000327365" "FERMT1" "0000327366" "FERMT1" "0000327367" "FERMT1" "0000327368" "FERMT1" "0000327369" "FERMT1" "0000327370" "FERMT1" "0000327371" "FERMT1" "0000327372" "FERMT1" "0000327373" "FERMT1" "0000327374" "FERMT1" "0000327375" "FERMT1" "0000327376" "FERMT1" "0000327377" "FERMT1" "0000327378" "FERMT1" "0000327379" "FERMT1" "0000327380" "FERMT1" "0000327381" "FERMT1" "0000327382" "FERMT1" "0000327383" "FERMT1" "0000327384" "FERMT1" "0000327385" "FERMT1" "0000327386" "FERMT1" "0000327387" "FERMT1" "0000327388" "FERMT1" "0000327389" "FERMT1" "0000327390" "FERMT1" "0000327391" "FERMT1" "0000327392" "FERMT1" "0000327393" "FERMT1" "0000327394" "FERMT1" "0000327395" "FERMT1" "0000327396" "FERMT1" "0000327397" "FERMT1" "0000327398" "FERMT1" "0000327399" "FERMT1" "0000327400" "FERMT1" "0000327401" "FERMT1" "0000327402" "FERMT1" "0000327403" "FERMT1" "0000327404" "FERMT1" "0000327405" "FERMT1" "0000327406" "FERMT1" "0000327407" "FERMT1" "0000327408" "FERMT1" "0000327409" "FERMT1" "0000327410" "FERMT1" "0000327411" "FERMT1" "0000327412" "FERMT1" "0000421235" "FERMT1" ## 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 = 266 "{{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}}" "0000248723" "0" "10" "20" "6064710" "6064710" "subst" "0.37538" "02325" "FERMT1_000082" "g.6064710A>G" "" "" "" "FERMT1(NM_017671.5):c.1695T>C (p.F565=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6084063A>G" "" "benign" "" "0000280757" "0" "90" "20" "6075585" "6075585" "subst" "0" "02325" "FERMT1_000077" "g.6075585C>A" "" "" "" "FERMT1(NM_017671.5):c.1139+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6094938C>A" "" "pathogenic" "" "0000280758" "0" "50" "20" "6065891" "6065891" "subst" "3.6547E-5" "02325" "FERMT1_000076" "g.6065891G>A" "" "" "" "FERMT1(NM_017671.5):c.1415C>T (p.S472L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6085244G>A" "" "VUS" "" "0000280759" "0" "10" "20" "6065731" "6065731" "subst" "0.402758" "02325" "FERMT1_000075" "g.6065731T>C" "" "" "" "FERMT1(NM_017671.5):c.1575A>G (p.K525=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6085084T>C" "" "benign" "" "0000280760" "0" "10" "20" "6065729" "6065729" "subst" "0.402736" "02325" "FERMT1_000074" "g.6065729C>T" "" "" "" "FERMT1(NM_017671.5):c.1577G>A (p.R526K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6085082C>T" "" "benign" "" "0000280761" "0" "30" "20" "6064765" "6064765" "subst" "0" "02325" "FERMT1_000073" "g.6064765G>A" "" "" "" "FERMT1(NM_017671.5):c.1640C>T (p.P547L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6084118G>A" "" "likely benign" "" "0000280762" "0" "30" "20" "6057970" "6057970" "subst" "0.00977938" "02325" "FERMT1_000081" "g.6057970G>A" "" "" "" "FERMT1(NM_017671.5):c.1884C>T (p.N628=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6077323G>A" "" "likely benign" "" "0000280763" "0" "90" "20" "6078218" "6078218" "subst" "6.50126E-5" "02325" "FERMT1_000002" "g.6078218C>A" "" "" "" "FERMT1(NM_017671.5):c.910G>T (p.E304*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6097571C>A" "" "pathogenic" "" "0000328294" "0" "50" "20" "6088181" "6088181" "subst" "0" "01804" "FERMT1_000079" "g.6088181T>G" "" "" "" "FERMT1(NM_017671.4):c.847A>C (p.(Lys283Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6107534T>G" "" "VUS" "" "0000501553" "11" "90" "20" "6103422" "6103422" "subst" "0" "00000" "FERMT1_000070" "g.6103422T>C" "" "{PMID:Has 2015:25156791}" "" "" "severly reduced mRNA expression" "Germline" "" "" "0" "" "" "g.6122775T>C" "" "pathogenic (recessive)" "" "0000501554" "1" "95" "20" "6096515" "6096515" "subst" "2.84396E-5" "03031" "FERMT1_000004" "g.6096515G>A" "" "{PMID:de Almeida 2013:24346923}" "" "Arg110X" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000501555" "21" "99" "20" "6078218" "6078218" "subst" "6.50126E-5" "00000" "FERMT1_000002" "g.6078218C>A" "" "{PMID:Has 2006:16675959}" "" "" "" "Germline" "" "" "0" "" "" "g.6097571C>A" "" "pathogenic (recessive)" "" "0000501556" "3" "99" "20" "6102951" "6104896" "del" "0" "00000" "FERMT1_000068" "g.6102951_6104896del" "" "{PMID:Fuchs-Telem 2014:24635080}" "" "g.‐711–1241del" "" "Germline" "" "" "0" "" "" "g.6122304_6124249del" "" "pathogenic (recessive)" "" "0000501557" "3" "99" "20" "6102951" "6104896" "del" "0" "00000" "FERMT1_000068" "g.6102951_6104896del" "" "{PMID:Has 2015:25156791}" "" "-711_1241del" "" "Germline" "" "" "0" "" "" "g.6122304_6124249del" "" "pathogenic (recessive)" "" "0000501558" "3" "99" "20" "6075534" "6078550" "del" "0" "00000" "FERMT1_000055" "g.6075534_6078550del" "" "{PMID:Zhuo 2009:19292718}" "" "g.63601_66617del" "" "Germline" "" "" "0" "" "" "g.6094887_6097903del" "" "pathogenic (recessive)" "" "0000501559" "3" "99" "20" "6067983" "6071901" "del" "0" "00000" "FERMT1_000015" "g.6067983_6071901del" "" "{PMID:Has 2006:16675959}" "" "g.70250_74168del" "" "Germline" "" "" "0" "" "" "g.6087336_6091254del" "" "pathogenic (recessive)" "" "0000501560" "3" "99" "20" "6067983" "6071901" "del" "0" "00000" "FERMT1_000015" "g.6067983_6071901del" "" "{PMID:Has 2006:16675959}" "" "g.70250_74168del" "" "Germline" "" "" "0" "" "" "g.6087336_6091254del" "" "pathogenic (recessive)" "" "0000501561" "3" "99" "20" "6067983" "6071901" "del" "0" "00000" "FERMT1_000015" "g.6067983_6071901del" "" "{PMID:Has 2006:16675959}" "" "g.70250_74168del" "" "Germline" "" "" "0" "" "" "g.6087336_6091254del" "" "pathogenic (recessive)" "" "0000501562" "11" "99" "20" "6067983" "6071901" "del" "0" "00000" "FERMT1_000015" "g.6067983_6071901del" "" "{PMID:Has 2006:16675959}" "" "g.70250_74168del" "" "Germline" "" "" "0" "" "" "g.6087336_6091254del" "" "pathogenic (recessive)" "" "0000501563" "3" "99" "20" "6067983" "6071901" "del" "0" "00000" "FERMT1_000015" "g.6067983_6071901del" "" "" "" "g.70250_74168del" "" "Germline" "" "" "0" "" "" "g.6087336_6091254del" "" "pathogenic (recessive)" "" "0000501564" "21" "99" "20" "6067983" "6071901" "del" "0" "00000" "FERMT1_000015" "g.6067983_6071901del" "" "{PMID:Has 2015:25156791}" "" "g.70250_74168del" "" "Germline" "" "" "0" "" "" "g.6087336_6091254del" "" "pathogenic (recessive)" "" "0000501565" "3" "99" "20" "6052982" "6061222" "del" "0" "00000" "FERMT1_000021" "g.6052982_6061222del" "" "{PMID:Has 2011:21936020}" "" "80929-89169del" "" "Germline" "" "" "0" "" "" "g.6072335_6080575del" "" "pathogenic (recessive)" "" "0000501566" "3" "99" "20" "6052982" "6061222" "del" "0" "00000" "FERMT1_000021" "g.6052982_6061222del" "" "{PMID:Has 2011:21936020}" "" "80929-89169del" "" "Germline" "" "" "0" "" "" "g.6072335_6080575del" "" "pathogenic (recessive)" "" "0000501567" "3" "99" "20" "6052982" "6061222" "del" "0" "00000" "FERMT1_000021" "g.6052982_6061222del" "" "{PMID:Has 2008:18835760}" "" "80929-89169del" "" "Germline" "" "" "0" "" "" "g.6072335_6080575del" "" "pathogenic (recessive)" "" "0000501568" "3" "99" "20" "6052982" "6061222" "del" "0" "00000" "FERMT1_000021" "g.6052982_6061222del" "" "{PMID:Has 2008:18835760}" "" "80929-89169del" "" "Germline" "" "" "0" "" "" "g.6072335_6080575del" "" "pathogenic (recessive)" "" "0000501569" "3" "99" "20" "6052982" "6061222" "del" "0" "00000" "FERMT1_000021" "g.6052982_6061222del" "" "{PMID:Has 2008:18835760}" "" "80929-89169del" "" "Germline" "" "" "0" "" "" "g.6072335_6080575del" "" "pathogenic (recessive)" "" "0000501570" "3" "99" "20" "6082818" "6121040" "delins" "0" "00000" "FERMT1_000069" "g.6082818_6121040delinsCAAACTGA" "" "{PMID:Has 2015:25156791}" "" "hg38 6102171_6140393delinsCAAACTGA" "" "Germline" "" "" "0" "" "" "g.6121524_6159746delinsCAAACTGA" "" "pathogenic (recessive)" "" "0000501571" "3" "99" "20" "6100180" "6100181" "del" "0" "00000" "FERMT1_000050" "g.6100180_6100181del" "" "{PMID:Sadler 2006:17178989}" "" "" "" "Germline" "" "" "0" "" "" "g.6119533_6119534del" "" "pathogenic (recessive)" "" "0000501572" "1" "99" "20" "6100166" "6100166" "subst" "4.06138E-6" "00000" "FERMT1_000037" "g.6100166C>T" "" "{PMID:Techanukul 2011:21336475}" "" "" "" "Germline" "" "" "0" "" "" "g.6119519C>T" "" "pathogenic (recessive)" "" "0000501573" "3" "99" "20" "6100108" "6100109" "del" "0" "00000" "FERMT1_000006" "g.6100108_6100109del" "" "{PMID:Has 2006:16675959}" "" "" "" "Germline" "" "" "0" "" "" "g.6119461_6119462del" "" "pathogenic (recessive)" "" "0000501574" "3" "75" "20" "6100065" "6100068" "del" "0" "00000" "FERMT1_000067" "g.6100065_6100068del" "" "{PMID:Fuchs-Telem 2014:24635080}" "" "137–140delTAGT" "" "Germline" "" "" "0" "" "" "g.6119418_6119421del" "" "likely pathogenic" "" "0000501575" "2" "99" "20" "6100057" "6100057" "subst" "0" "00000" "FERMT1_000040" "g.6100057G>A" "" "" "" "" "{PMID:Techanukul 2011:21336475}" "Germline" "" "" "0" "" "" "g.6119410G>A" "" "pathogenic (recessive)" "" "0000501576" "3" "99" "20" "6096693" "6096693" "delins" "0" "00000" "FERMT1_000033" "g.6096693delinsAG" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6116046delinsAG" "" "pathogenic" "" "0000501577" "3" "99" "20" "6096673" "6096673" "subst" "0" "00000" "FERMT1_000005" "g.6096673G>T" "" "{PMID:Mansur 2007:17989907}" "" "" "" "Germline" "" "" "0" "" "" "g.6116026G>T" "" "pathogenic (recessive)" "" "0000501578" "3" "99" "20" "6096673" "6096673" "subst" "0" "00000" "FERMT1_000005" "g.6096673G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6116026G>T" "" "pathogenic" "" "0000501579" "3" "99" "20" "6096650" "6096650" "subst" "0" "00000" "FERMT1_000019" "g.6096650G>A" "" "{PMID:Siegel 2003:12789646}" "" "" "" "Germline" "" "" "0" "" "" "g.6116003G>A" "" "pathogenic (recessive)" "" "0000501580" "3" "99" "20" "6096650" "6096650" "subst" "0" "00000" "FERMT1_000019" "g.6096650G>A" "" "{PMID:Siegel 2003:12789646}" "" "" "" "Germline" "" "" "0" "" "" "g.6116003G>A" "" "pathogenic" "" "0000501581" "3" "99" "20" "6096544" "6096546" "del" "0" "00000" "FERMT1_000032" "g.6096544_6096546del" "" "{PMID:Has 2011:21936020}" "" "" "" "Germline" "" "" "0" "" "" "g.6115897_6115899del" "" "pathogenic (recessive)" "" "0000501582" "3" "99" "20" "6096515" "6096515" "subst" "2.84396E-5" "00000" "FERMT1_000004" "g.6096515G>A" "" "{PMID:Has 2009:19762715}" "" "" "" "Germline" "" "" "0" "" "" "g.6115868G>A" "" "pathogenic" "" "0000501583" "3" "99" "20" "6096515" "6096515" "subst" "2.84396E-5" "00000" "FERMT1_000004" "g.6096515G>A" "" "{PMID:Has 2009:19762715}" "" "" "" "Germline" "" "" "0" "" "" "g.6115868G>A" "" "pathogenic" "" "0000501584" "3" "99" "20" "6096515" "6096515" "subst" "2.84396E-5" "00000" "FERMT1_000004" "g.6096515G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6115868G>A" "" "pathogenic" "" "0000501585" "3" "95" "20" "6096515" "6096515" "subst" "2.84396E-5" "00000" "FERMT1_000004" "g.6096515G>A" "" "{PMID:Lai-Cheong 2009:19120339} {PMID: Emanuel 2006:17086002}" "" "" "" "Germline" "" "" "0" "" "" "g.6115868G>A" "" "pathogenic" "" "0000501586" "3" "95" "20" "6096515" "6096515" "subst" "2.84396E-5" "03030" "FERMT1_000004" "g.6096515G>A" "" "{DOI:Youssefian 2015:10.1038/jid.2015.9},{PMID:Youssefian 2015:25599393}" "" "" "" "Germline" "" "" "0" "" "" "g.6115868G>A" "" "pathogenic (recessive)" "" "0000501587" "0" "99" "20" "6096515" "6096515" "subst" "2.84396E-5" "00000" "FERMT1_000004" "g.6096515G>A" "" "{PMID:Almeida 2013:24346923}" "" "" "" "Germline" "" "" "0" "" "" "g.6115868G>A" "" "pathogenic (recessive)" "" "0000501588" "3" "99" "20" "6096502" "6096502" "subst" "0" "00000" "FERMT1_000036" "g.6096502G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6115855G>C" "" "pathogenic" "" "0000501589" "3" "99" "20" "6096502" "6096502" "subst" "0" "00000" "FERMT1_000036" "g.6096502G>C" "" "{PMID:Lai-Cheong 2007:17460733}" "" "" "" "Germline" "" "" "0" "" "" "g.6115855G>C" "" "pathogenic (recessive)" "" "0000501590" "3" "99" "20" "6096470" "6096470" "del" "0" "00000" "FERMT1_000017" "g.6096470del" "" "{PMID:Has 2006:16675959}" "" "373delT" "" "Germline" "" "" "0" "" "" "g.6115823del" "" "pathogenic (recessive)" "" "0000501591" "3" "99" "20" "6096470" "6096470" "del" "0" "00000" "FERMT1_000017" "g.6096470del" "" "{PMID:Siegel 2003:12789646}" "" "" "" "Germline" "" "" "0" "" "" "g.6115823del" "" "pathogenic (recessive)" "" "0000501592" "2" "99" "20" "6096457" "6096460" "del" "0" "00000" "FERMT1_000041" "g.6096457_6096460del" "" "{PMID:Techanukul 2011:21336475}" "" "" "" "Germline" "" "" "0" "" "" "g.6115810_6115813del" "" "pathogenic (recessive)" "" "0000501593" "3" "99" "20" "6096456" "6096456" "subst" "4.06435E-6" "00000" "FERMT1_000011" "g.6096456A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6115809A>G" "" "pathogenic" "" "0000501594" "3" "99" "20" "6096456" "6096456" "subst" "4.06435E-6" "00000" "FERMT1_000011" "g.6096456A>G" "" "{PMID:Jobard 2003:12668616}" "" "" "" "Germline" "" "" "0" "" "" "g.6115809A>G" "" "pathogenic (recessive)" "" "0000501595" "3" "99" "20" "6096456" "6096456" "subst" "4.06435E-6" "00000" "FERMT1_000011" "g.6096456A>G" "" "{PMID:Jobard 2003:12668616}" "" "" "" "Germline" "" "" "0" "" "" "g.6115809A>G" "" "pathogenic (recessive)" "" "0000501596" "3" "90" "20" "6096456" "6096456" "subst" "4.06435E-6" "00000" "FERMT1_000011" "g.6096456A>G" "" "{PMID:Jobard 2003:12668616}" "" "" "" "Germline" "" "" "0" "" "" "g.6115809A>G" "" "pathogenic (recessive)" "" "0000501597" "3" "99" "20" "6093205" "6093205" "dup" "0" "00000" "FERMT1_000003" "g.6093205dup" "" "{PMID:Has 2009:19762715}" "" "" "" "Germline" "" "" "0" "" "" "g.6112558dup" "" "pathogenic (recessive)" "" "0000501598" "3" "90" "20" "6093196" "6093196" "del" "0" "00000" "FERMT1_000023" "g.6093196del" "" "{PMID:Jobard 2003:12668616}" "" "464delA" "" "Germline" "" "" "0" "" "" "g.6112549del" "" "pathogenic (recessive)" "" "0000501599" "3" "90" "20" "6093196" "6093196" "del" "0" "00000" "FERMT1_000023" "g.6093196del" "" "{PMID:Jobard 2003:12668616}" "" "464delA" "" "Germline" "" "" "0" "" "" "g.6112549del" "" "pathogenic (recessive)" "" "0000501600" "3" "99" "20" "6093154" "6093154" "subst" "0" "00000" "FERMT1_000044" "g.6093154C>A" "" "{PMID:Lai-Cheong 2007:17460733}" "" "" "" "Germline" "" "" "0" "" "" "g.6112507C>A" "" "pathogenic (recessive)" "" "0000501601" "3" "99" "20" "6093154" "6093154" "subst" "0" "00000" "FERMT1_000044" "g.6093154C>A" "" "{PMID:Lai-Cheong 2007:17460733}" "" "" "" "Germline" "" "" "0" "" "" "g.6112507C>A" "" "pathogenic (recessive)" "" "0000501602" "3" "90" "20" "6091141" "6091141" "dup" "0" "03030" "FERMT1_000059" "g.6091141dup" "" "{DOI:Youssefian 2015:10.1038/jid.2015.9}, {PMID:Youssefian 2015:25599393}" "" "550_551insA" "" "Germline" "" "" "0" "" "" "g.6110494dup" "" "pathogenic (recessive)" "" "0000501603" "3" "99" "20" "6091077" "6091077" "subst" "0" "00000" "FERMT1_000020" "g.6091077C>T" "" "{PMID:Siegel 2003:12789646}" "" "" "" "Germline" "" "" "0" "" "" "g.6110430C>T" "" "pathogenic (recessive)" "" "0000501604" "3" "90" "20" "6091077" "6091077" "subst" "0" "03030" "FERMT1_000020" "g.6091077C>T" "" "{DOI:Youssefian 2015:10.1038/jid.2015.9}, {PMID:Youssefian 2015:25599393}" "" "" "" "Germline" "" "" "0" "" "" "g.6110430C>T" "" "pathogenic (recessive)" "" "0000501605" "3" "99" "20" "6091021" 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"" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "Germline" "" "" "0" "" "" "g.6115809A>G" "" "pathogenic (recessive)" "" "0000711067" "3" "90" "20" "6096456" "6096456" "subst" "4.06435E-6" "00006" "FERMT1_000011" "g.6096456A>G" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "Germline" "" "" "0" "" "" "g.6115809A>G" "" "pathogenic (recessive)" "" "0000711068" "1" "90" "20" "6078218" "6078218" "subst" "6.50126E-5" "00006" "FERMT1_000002" "g.6078218C>A" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "Germline" "" "" "0" "" "" "g.6097571C>A" "" "pathogenic (recessive)" "" "0000711069" "3" "90" "20" "6093196" "6093196" "del" "0" "00006" "FERMT1_000023" "g.6093196del" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "Germline" "" "" "0" "" "" "g.6112549del" "" "pathogenic (recessive)" "" "0000711070" "3" "90" "20" "6088217" "6088217" "subst" "3.25119E-5" "00006" "FERMT1_000012" "g.6088217G>A" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "Germline" "" "" "0" "" "" "g.6107570G>A" "" "pathogenic (recessive)" "" "0000711071" "3" "90" "20" "6096515" "6096515" "subst" "2.84396E-5" "00006" "FERMT1_000004" "g.6096515G>A" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "Germline" "" "" "0" "" "" "g.6115868G>A" "" "pathogenic (recessive)" "" "0000711072" "3" "90" "20" "6091021" "6091021" "dup" "0" "00006" "FERMT1_000001" "g.6091021dup" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "676dupC" "" "Germline" "" "" "0" "" "" "g.6110374dup" "" "pathogenic (recessive)" "" "0000711073" "3" "90" "20" "6064690" "6064691" "ins" "0" "00006" "FERMT1_000024" "g.6064690_6064691insT" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "Germline" "" "" "0" "" "" "g.6084043_6084044insT" "" "pathogenic (recessive)" "" "0000711074" "3" "90" "20" "6093196" "6093196" "del" "0" "00006" "FERMT1_000023" "g.6093196del" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "Germline" "" "" "0" "" "" "g.6112549del" "" "pathogenic (recessive)" "" "0000711075" "3" "90" "20" "6069718" "6069718" "del" "0" "00006" "FERMT1_000016" "g.6069718del" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "1161delA" "" "Germline" "" "" "0" "" "" "g.6089071del" "" "pathogenic (recessive)" "" "0000711076" "3" "90" "20" "6064685" "6064685" "subst" "2.43748E-5" "00006" "FERMT1_000010" "g.6064685A>G" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "Germline" "" "" "0" "" "" "g.6084038A>G" "" "pathogenic (recessive)" "" "0000711077" "3" "90" "20" "6067983" "6071901" "del" "0" "00006" "FERMT1_000015" "g.6067983_6071901del" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "g.70250_74168del" "" "Germline" "" "" "0" "" "" "g.6087336_6091254del" "" "pathogenic (recessive)" "" "0000711078" "3" "90" "20" "6060092" "6060095" "dup" "0" "00006" "FERMT1_000026" "g.6060092_6060095dup" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "Germline" "" "" "0" "" "" "g.6079445_6079448dup" "" "pathogenic (recessive)" "" "0000711079" "3" "90" "20" "6060092" "6060095" "dup" "0" "00006" "FERMT1_000026" "g.6060092_6060095dup" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "Germline" "" "" "0" "" "" "g.6079445_6079448dup" "" "pathogenic (recessive)" "" "0000711080" "3" "90" "20" "6088241" "6088241" "subst" "0" "00006" "FERMT1_000028" "g.6088241G>A" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "Germline" "" "" "0" "" "" "g.6107594G>A" "" "pathogenic (recessive)" "" "0000711081" "3" "90" "20" "6096456" "6096456" "subst" "4.06435E-6" "00006" "FERMT1_000011" "g.6096456A>G" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "Germline" "" "" "0" "" "" "g.6115809A>G" "" "pathogenic (recessive)" "" "0000711082" "3" "90" "20" "6088241" "6088241" "subst" "0" "00006" "FERMT1_000028" "g.6088241G>A" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "Germline" "" "" "0" "" "" "g.6107594G>A" "" "pathogenic (recessive)" "" "0000711083" "3" "90" "20" "6078218" "6078218" "subst" "6.50126E-5" "00006" "FERMT1_000002" "g.6078218C>A" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "Germline" "" "" "0" "" "" "g.6097571C>A" "" "pathogenic (recessive)" "" "0000711084" "3" "90" "20" "6060225" "6060225" "subst" "0" "00006" "FERMT1_000018" "g.6060225C>T" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "Germline" "" "" "0" "" "" "g.6079578C>T" "" "pathogenic (recessive)" "" "0000711085" "3" "90" "20" "6064690" "6064691" "ins" "0" "00006" "FERMT1_000024" "g.6064690_6064691insT" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "Germline" "" "" "0" "" "" "g.6084043_6084044insT" "" "pathogenic (recessive)" "" "0000711086" "3" "90" "20" "6096456" "6096456" "subst" "4.06435E-6" "00006" "FERMT1_000011" "g.6096456A>G" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "Germline" "" "" "0" "" "" "g.6115809A>G" "" "pathogenic (recessive)" "" "0000711087" "3" "90" "20" "6091021" "6091021" "dup" "0" "00006" "FERMT1_000001" "g.6091021dup" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "676dupC" "" "Germline" "" "" "0" "" "" "g.6110374dup" "" "pathogenic (recessive)" "" "0000711088" "3" "90" "20" "6064690" "6064691" "ins" "0" "00006" "FERMT1_000024" "g.6064690_6064691insT" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "Germline" "" "" "0" "" "" "g.6084043_6084044insT" "" "pathogenic (recessive)" "" "0000711089" "3" "90" "20" "6069718" "6069718" "del" "0" "00006" "FERMT1_000016" "g.6069718del" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "Germline" "" "" "0" "" "" "g.6089071del" "" "pathogenic (recessive)" "" "0000711090" "3" "90" "20" "6088241" "6088241" "subst" "0" "00006" "FERMT1_000028" "g.6088241G>A" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "Germline" "" "" "0" "" "" "g.6107594G>A" "" "pathogenic (recessive)" "" "0000711091" "3" "90" "20" "6069718" "6069718" "del" "0" "00006" "FERMT1_000016" "g.6069718del" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "Germline" "" "" "0" "" "" "g.6089071del" "" "pathogenic (recessive)" "" "0000711092" "3" "90" "20" "6067983" "6071901" "del" "0" "00006" "FERMT1_000015" "g.6067983_6071901del" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "g.70250_74168del" "" "Germline" "" "" "0" "" "" "g.6087336_6091254del" "" "pathogenic (recessive)" "" "0000711093" "3" "90" "20" "6096673" "6096673" "subst" "0" "00006" "FERMT1_000005" "g.6096673G>T" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "Germline" "" "" "0" "" "" "g.6116026G>T" "" "pathogenic (recessive)" "" "0000711094" "3" "90" "20" "6077681" "6077681" "subst" "0" "00006" "FERMT1_000031" "g.6077681C>T" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "Germline" "" "" "0" "" "" "g.6097034C>T" "" "pathogenic (recessive)" "" "0000711095" "3" "90" "20" "6064686" "6064686" "subst" "0" "00006" "FERMT1_000009" "g.6064686C>T" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "Germline" "" "" "0" "" "" "g.6084039C>T" "" "pathogenic (recessive)" "" "0000711096" "3" "90" "20" "6093205" "6093205" "dup" "0" "00006" "FERMT1_000003" "g.6093205dup" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "456dupA" "" "Germline" "" "" "0" "" "" "g.6112558dup" "" "pathogenic (recessive)" "" "0000711097" "3" "90" "20" "6052985" "6061222" "del" "0" "00006" "FERMT1_000088" "g.6052985_6061222del" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "g.80929_89169del" "" "Germline" "" "" "0" "" "" "g.6072338_6080575del" "" "pathogenic (recessive)" "" "0000711098" "3" "90" "20" "6077681" "6077681" "subst" "0" "00006" "FERMT1_000031" "g.6077681C>T" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "Germline" "" "" "0" "" "" "g.6097034C>T" "" "pathogenic (recessive)" "" "0000711099" "3" "90" "20" "6069667" "6069667" "subst" "4.06098E-6" "00006" "FERMT1_000007" "g.6069667G>C" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "Germline" "" "" "0" "" "" "g.6089020G>C" "" "pathogenic (recessive)" "" "0000711100" "3" "90" "20" "6068423" "6068432" "del" "0" "00006" "FERMT1_000014" "g.6068423_6068432del" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "Germline" "" "" "0" "" "" "g.6087776_6087785del" "" "pathogenic (recessive)" "" "0000711101" "3" "90" "20" "6077681" "6077681" "subst" "0" "00006" "FERMT1_000031" "g.6077681C>T" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "Germline" "" "" "0" "" "" "g.6097034C>T" "" "pathogenic (recessive)" "" "0000711102" "3" "90" "20" "6078218" "6078218" "subst" "6.50126E-5" "00006" "FERMT1_000002" "g.6078218C>A" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "Germline" "" "" "0" "" "" "g.6097571C>A" "" "pathogenic (recessive)" "" "0000711103" "3" "90" "20" "6052985" "6061222" "del" "0" "00006" "FERMT1_000021" "g.6052985_6061222del" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "g.80929_89169del" "" "Germline" "" "" "0" "" "" "g.6072338_6080575del" "" "pathogenic (recessive)" "" "0000711104" "3" "90" "20" "6067983" "6071901" "del" "0" "00006" "FERMT1_000015" "g.6067983_6071901del" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "g.70250_74168del" "" "Germline" "" "" "0" "" "" "g.6087336_6091254del" "" "pathogenic (recessive)" "" "0000711105" "3" "90" "20" "6096470" "6096470" "del" "0" "00006" "FERMT1_000017" "g.6096470del" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "Germline" "" "" "0" "" "" "g.6115823del" "" "pathogenic (recessive)" "" "0000711106" "3" "90" "20" "6077681" "6077681" "subst" "0" "00006" "FERMT1_000031" "g.6077681C>T" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "Germline" "" "" "0" "" "" "g.6097034C>T" "" "pathogenic (recessive)" "" "0000711107" "3" "90" "20" "0" "0" "" "0" "00006" "DNMT3B_000000" "g.?" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "152-2delAGinsCT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000711108" "3" "90" "20" "6100108" "6100109" "del" "0" "00006" "FERMT1_000006" "g.6100108_6100109del" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "Germline" "" "" "0" "" "" "g.6119461_6119462del" "" "pathogenic (recessive)" "" "0000711109" "3" "90" "20" "6052985" "6061222" "del" "0" "00006" "FERMT1_000021" "g.6052985_6061222del" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "g.80929_89169del" "" "Germline" "" "" "0" "" "" "g.6072338_6080575del" "" "pathogenic (recessive)" "" "0000711110" "3" "90" "20" "6069667" "6069667" "subst" "4.06098E-6" "00006" "FERMT1_000007" "g.6069667G>C" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "Germline" "" "" "0" "" "" "g.6089020G>C" "" "pathogenic (recessive)" "" "0000711111" "3" "90" "20" "6067983" "6071901" "del" "0" "00006" "FERMT1_000015" "g.6067983_6071901del" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "g.70250_74168del" "" "Germline" "" "" "0" "" "" "g.6087336_6091254del" "" "pathogenic (recessive)" "" "0000711112" "3" "90" "20" "6096515" "6096515" "subst" "2.84396E-5" "00006" "FERMT1_000004" "g.6096515G>A" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "Germline" "" "" "0" "" "" "g.6115868G>A" "" "pathogenic (recessive)" "" "0000711113" "3" "90" "20" "6096515" "6096515" "subst" "2.84396E-5" "00006" "FERMT1_000004" "g.6096515G>A" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "Germline" "" "" "0" "" "" "g.6115868G>A" "" "pathogenic (recessive)" "" "0000711114" "3" "90" "20" "6069663" "6069663" "dup" "0" "00006" "FERMT1_000008" "g.6069663dup" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "1217dupA" "" "Germline" "" "" "0" "" "" "g.6089016dup" "" "pathogenic (recessive)" "" "0000711115" "3" "90" "20" "6096502" "6096502" "subst" "0" "00006" "FERMT1_000036" "g.6096502G>C" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "" "" "Germline" "" "" "0" "" "" "g.6115855G>C" "" "pathogenic (recessive)" "" "0000711116" "2" "90" "20" "6067983" "6071901" "del" "0" "00006" "FERMT1_000015" "g.6067983_6071901del" "" "{PMID:Has 2011:21936020}, {DOI:Has 2011:10.1002/humu.21576}" "" "g.70250_74168del" "" "Germline" "" "" "0" "" "" "g.6087336_6091254del" "" "pathogenic (recessive)" "" "0000711117" "3" "90" "20" "6052985" "6061222" "del" "0" "00006" "FERMT1_000021" "g.6052985_6061222del" "" "{PMID:Has 2008:18835760}" "" "g.80929_89169del" "" "Germline" "" "" "0" "" "" "g.6072338_6080575del" "" "pathogenic (recessive)" "" "0000711118" "3" "90" "20" "6052985" "6061222" "del" "0" "00006" "FERMT1_000021" "g.6052985_6061222del" "" "{PMID:Has 2008:18835760}" "" "g.80929_89169del" "" "Germline" "" "" "0" "" "" "g.6072338_6080575del" "" "pathogenic (recessive)" "" "0000711119" "3" "90" "20" "6052985" "6061222" "del" "0" "00006" "FERMT1_000021" "g.6052985_6061222del" "" "{PMID:Has 2008:18835760}" "" "g.80929_89169del" "" "Germline" "" "" "0" "" "" "g.6072338_6080575del" "" "pathogenic (recessive)" "" "0000727809" "0" "30" "20" "6064744" "6064744" "subst" "1.22085E-5" "02325" "FERMT1_000089" "g.6064744C>A" "" "" "" "FERMT1(NM_017671.5):c.1661G>T (p.R554L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727816" "0" "50" "20" "6096550" "6096550" "subst" "0.000430621" "01943" "FERMT1_000090" "g.6096550C>T" "" "" "" "FERMT1(NM_017671.4):c.293G>A (p.R98H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000840039" "0" "30" "20" "6096550" "6096550" "subst" "0.000430621" "00006" "FERMT1_000090" "g.6096550C>T" "" "{PMID:AlAsiri 2015:25437880}" "" "" "" "Germline" "yes" "rs137862671" "0" "" "" "" "" "likely benign" "" "0000881219" "3" "90" "20" "6091021" "6091021" "dup" "0" "02300" "FERMT1_000001" "g.6091021dup" "" "{PMID:Marinakis 2021:34008892}" "" "c.676dupC" "ACMG PVS1, PM2, PP4, PP5" "Germline" "" "rs748240859" "0" "" "" "g.6110374dup" "" "pathogenic (recessive)" "ACMG" "0000881220" "3" "90" "20" "6091021" "6091021" "dup" "0" "02300" "FERMT1_000001" "g.6091021dup" "" "{PMID:Marinakis 2021:34008892}" "" "c.676dupC" "ACMG PVS1, PM1, PM2, PP5" "Germline" "" "rs748240859" "0" "" "" "g.6110374dup" "" "pathogenic (recessive)" "ACMG" "0000881867" "3" "90" "20" "6069705" "6069705" "subst" "0" "04013" "FERMT1_000091" "g.6069705G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6089058G>A" "" "pathogenic (recessive)" "other" "0000895407" "0" "50" "20" "6090979" "6090979" "subst" "4.06699E-6" "02325" "FERMT1_000092" "g.6090979G>C" "" "" "" "FERMT1(NM_017671.5):c.712C>G (p.R238G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927036" "0" "30" "20" "6060087" "6060087" "subst" "0" "02326" "FERMT1_000093" "g.6060087C>T" "" "" "" "FERMT1(NM_017671.5):c.1856G>A (p.R619Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927037" "0" "30" "20" "6064817" "6064817" "subst" "0.000312198" "02326" "FERMT1_000094" "g.6064817C>T" "" "" "" "FERMT1(NM_017671.5):c.1594-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927038" "0" "30" "20" "6077561" "6077561" "subst" "6.90445E-5" "02326" "FERMT1_000095" "g.6077561C>T" "" "" "" "FERMT1(NM_017671.5):c.1077G>A (p.A359=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927039" "0" "30" "20" "6077698" "6077698" "subst" "8.1357E-5" "02326" "FERMT1_000096" "g.6077698G>A" "" "" "" "FERMT1(NM_017671.5):c.958-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931193" "0" "10" "20" "6058001" "6058001" "subst" "0.00116147" "02326" "FERMT1_000097" "g.6058001A>G" "" "" "" "FERMT1(NM_017671.5):c.1861-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000931194" "0" "30" "20" "6078246" "6078246" "subst" "0.000195097" "02326" "FERMT1_000098" "g.6078246C>T" "" "" "" "FERMT1(NM_017671.5):c.882G>A (p.E294=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931201" "0" "30" "20" "6096537" "6096537" "subst" "0.00034125" "02326" "FERMT1_000099" "g.6096537C>T" "" "" "" "FERMT1(NM_017671.5):c.306G>A (p.P102=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005515" "0" "50" "20" "6065922" "6065922" "subst" "0.000276236" "02325" "FERMT1_000100" "g.6065922C>T" "" "" "" "FERMT1(NM_017671.5):c.1384G>A (p.A462T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001067293" "0" "50" "20" "6091054" "6091054" "subst" "0.000174632" "02325" "FERMT1_000101" "g.6091054C>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 FERMT1 ## Count = 266 "{{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}}" "0000248723" "00007883" "10" "1695" "0" "1695" "0" "c.1695T>C" "r.(?)" "p.(Phe565=)" "" "0000280757" "00007883" "90" "1139" "1" "1139" "1" "c.1139+1G>T" "r.spl?" "p.?" "" "0000280758" "00007883" "50" "1415" "0" "1415" "0" "c.1415C>T" "r.(?)" "p.(Ser472Leu)" "" "0000280759" "00007883" "10" "1575" "0" "1575" "0" "c.1575A>G" "r.(?)" "p.(Lys525=)" "" "0000280760" "00007883" "10" "1577" "0" "1577" "0" "c.1577G>A" "r.(?)" "p.(Arg526Lys)" "" "0000280761" "00007883" "30" "1640" "0" "1640" "0" "c.1640C>T" "r.(?)" "p.(Pro547Leu)" "" "0000280762" "00007883" "30" "1884" "0" "1884" "0" "c.1884C>T" "r.(?)" "p.(Asn628=)" "" "0000280763" "00007883" "90" "910" "0" "910" "0" "c.910G>T" "r.(?)" "p.(Glu304Ter)" "" "0000328294" "00007883" "50" "847" "0" "847" "0" "c.847A>C" "r.(?)" "p.(Lys283Gln)" "" "0000501553" "00007883" "90" "-20" "0" "-20" "0" "c.-20A>G" "r.0?" "p.0?" "?" "0000501554" "00007883" "95" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Arg110*)" "" "0000501555" "00007883" "99" "910" "0" "910" "0" "c.910G>T" "r.(?)" "p.(Glu304*)" "7" "0000501556" "00007883" "99" "0" "0" "0" "0" "c.-789_-19+470{0}" "r.0?" "p.0?" "_1_1i" "0000501557" "00007883" "99" "0" "0" "0" "0" "c.-789_-19+470{0}" "r.0?" "p.0?" "_1_1i" "0000501558" "00007883" "99" "850" "-272" "1139" "52" "c.850-272_1139+52del" "r.(?)" "p.(Tyr284Alafs*17)" "6i_9i" "0000501559" "00007883" "99" "1140" "-2165" "1371" "441" "c.1140-2165_1371+441del" "r.(?)" "p.(Pro381Argfs*36)" "9i_11i" "0000501560" "00007883" "99" "1140" "-2165" "1371" "441" "c.1140-2165_1371+441del" "r.(?)" "p.(Pro381Argfs*36)" "9i_11i" "0000501561" "00007883" "99" "1140" "-2165" "1371" "441" "c.1140-2165_1371+441del" "r.?" "p.?" "9i_11i" "0000501562" "00007883" "99" "1140" "-2165" "1371" "441" "c.1140-2165_1371+441del" "r.?" "p.?" "9i_11i" "0000501563" "00007883" "99" "1140" "-2165" "1371" "441" "c.1140-2165_1371+441del" "r.?" "p.?" "9i_11i" "0000501564" "00007883" "99" "1140" "-2165" "1371" "441" "c.1140-2165_1371+441del" "r.?" "p.?" "9i_11i" "0000501565" "00007883" "99" "4362" "5974563" "4362" "5966323" "c.1719-998_*2328{0}" "r.?" "p.?" "13i_15_" "0000501566" "00007883" "99" "4362" "5974563" "4362" "5966323" "c.1719-998_*2328{0}" "r.?" "p.?" "13i_15_" "0000501567" "00007883" "99" "4362" "5974563" "4362" "5966323" "c.1719-998_*2328{0}" "r.?" "p.?" "13i_15_" "0000501568" "00007883" "99" "4362" "5974563" "4362" "5966323" "c.1719-998_*2328{0}" "r.?" "p.?" "13i_15_" "0000501569" "00007883" "99" "4362" "5974563" "4362" "5966323" "c.1719-998_*2328{0}" "r.?" "p.?" "13i_15_" "0000501570" "00007883" "99" "0" "0" "0" "0" "c.-789_850-4540{0}" "r.0?" "p.0?" "_1_6i" "0000501571" "00007883" "99" "21" "0" "22" "0" "c.21_22del" "r.(?)" "p.(Thr8Ilefs*11)" "2" "0000501572" "00007883" "99" "36" "0" "36" "0" "c.36G>A" "r.(?)" "p.(Trp12*)" "2" "0000501573" "00007883" "99" "96" "0" "97" "0" "c.96_97del" "r.(?)" "p.(Arg32Serfs*63)" "2" "0000501574" "00007883" "75" "137" "0" "140" "0" "c.137_140del" "r.(?)" "p.(Leu46*)" "2" "0000501575" "00007883" "99" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Gln49*)" "2" "0000501576" "00007883" "99" "152" "-2" "152" "-2" "c.152-2delinsCT" "r.spl" "p.?" "2i" "0000501577" "00007883" "99" "170" "0" "170" "0" "c.170C>A" "r.(?)" "p.(Ser57*)" "3" "0000501578" "00007883" "99" "170" "0" "170" "0" "c.170C>A" "r.(?)" "p.(Ser57*)" "3" "0000501579" "00007883" "99" "193" "0" "193" "0" "c.193C>T" "r.(?)" "p.(Gln65*)" "3" "0000501580" "00007883" "99" "193" "0" "193" "0" "c.193C>T" "r.(?)" "p.(Gln65*)" "3" "0000501581" "00007883" "99" "299" "0" "301" "0" "c.299_301del" "r.(?)" "p.(Arg100del)" "3" "0000501582" "00007883" "99" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Arg110*)" "3" "0000501583" "00007883" "99" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Arg110*)" "3" "0000501584" "00007883" "99" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Arg110*)" "3" "0000501585" "00007883" "95" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Arg110*)" "3" "0000501586" "00007883" "95" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Arg110*)" "3" "0000501587" "00007883" "99" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Arg110*)" "3" "0000501588" "00007883" "99" "341" "0" "341" "0" "c.341C>G" "r.(?)" "p.(Ser114*)" "3" "0000501589" "00007883" "99" "341" "0" "341" "0" "c.341C>G" "r.(?)" "p.(Ser114*)" "3" "0000501590" "00007883" "99" "373" "0" "373" "0" "c.373del" "r.(?)" "p.(Cys125Alafs*4)" "3" "0000501591" "00007883" "99" "373" "0" "373" "0" "c.373del" "r.(?)" "p.(Cys125Alafs*4)" "3" "0000501592" "00007883" "99" "384" "0" "385" "2" "c.384_385+2del" "r.spl" "p.(Leu128Ilefs*11)" "3" "0000501593" "00007883" "99" "385" "2" "385" "2" "c.385+2T>C" "r.spl" "p.?" "3i" "0000501594" "00007883" "99" "385" "2" "385" "2" "c.385+2T>C" "r.spl" "p.?" "3i" "0000501595" "00007883" "99" "385" "2" "385" "2" "c.385+2T>C" "r.spl" "p.?" "3i" "0000501596" "00007883" "90" "385" "2" "385" "2" "c.385+2T>C" "r.spl" "p.?" "3i" "0000501597" "00007883" "99" "456" "0" "456" "0" "c.456dup" "r.(?)" "p.(Asp153Argfs*4)" "4" "0000501598" "00007883" "90" "464" "0" "464" "0" "c.464del" "r.(?)" "p.(Asn155Ilefs*6)" "4" "0000501599" "00007883" "90" "464" "0" "464" "0" "c.464del" "r.(?)" "p.(Asn155Ilefs*6)" "4" "0000501600" "00007883" "99" "502" "0" "502" "0" "c.502G>T" "r.(?)" "p.(Glu168*)" "4" "0000501601" "00007883" "99" "502" "0" "502" "0" "c.502G>T" "r.(?)" "p.(Glu168*)" "4" "0000501602" "00007883" "90" "550" "0" "550" "0" "c.550dup" "r.(?)" "p.(Ser184Lysfs*2)" "5" "0000501603" "00007883" "99" "614" "0" "614" "0" "c.614G>A" "r.(?)" "p.(Trp205*)" "5" "0000501604" "00007883" "90" "614" "0" "614" "0" "c.614G>A" "r.(?)" "p.(Trp205*)" "5" "0000501605" "00007883" "99" "676" "0" "676" "0" "c.676dup" "r.(?)" "p.(Gln226Profs*17)" "5" "0000501606" "00007883" "99" "676" "0" "676" "0" "c.676dup" "r.(?)" "p.(Gln226Profs*17)" "5" "0000501607" "00007883" "99" "676" "0" "676" "0" "c.676dup" "r.(?)" "p.(Gln226Profs*17)" "5" "0000501608" "00007883" "99" "676" "0" "676" "0" "c.676dup" "r.(?)" "p.(Gln226Profs*17)" "5" "0000501609" "00007883" "99" "676" "0" "676" "0" "c.676dup" "r.(?)" "p.(Gln226Profs*17)" "5" "0000501610" "00007883" "99" "676" "0" "676" "0" "c.676dup" "r.(?)" "p.(Gln226Profs*17)" "5" "0000501611" "00007883" "99" "676" "0" "676" "0" "c.676dup" "r.(?)" "p.(Gln226Profs*17)" "5" "0000501612" "00007883" "99" "676" "0" "676" "0" "c.676dup" "r.(?)" "p.(Gln226Profs*17)" "5" "0000501613" "00007883" "99" "676" "0" "676" "0" "c.676dup" "r.(?)" "p.(Gln226Profs*17)" "5" "0000501614" "00007883" "99" "676" "0" "676" "0" "c.676dup" "r.(?)" "p.(Gln226Profs*17)" "5" "0000501615" "00007883" "99" "676" "0" "676" "0" "c.676dup" "r.(?)" "p.(Gln226Profs*17)" "5" "0000501616" "00007883" "99" "676" "0" "676" "0" "c.676dup" "r.(?)" "p.(Gln226Profs*17)" "5" "0000501617" "00007883" "99" "676" "0" "676" "0" "c.676dup" "r.(?)" "p.(Gln226Profs*17)" "5" "0000501618" "00007883" "99" "676" "0" "676" "0" "c.676dup" "r.(?)" "p.(Gln226Profs*17)" "5" "0000501619" "00007883" "99" "676" "0" "676" "0" "c.676dup" "r.(?)" "p.(Gln226Profs*17)" "5" "0000501620" "00007883" "99" "676" "0" "676" "0" "c.676dup" "r.(?)" "p.(Gln226Profs*17)" "5" "0000501621" "00007883" "99" "676" "0" "676" "0" "c.676dup" "r.(?)" "p.(Gln226Profs*17)" "5" "0000501622" "00007883" "99" "676" "0" "676" "0" "c.676dup" "r.(?)" "p.(Gln226Profs*17)" "5" "0000501623" "00007883" "99" "676" "0" "676" "0" "c.676dup" "r.(?)" "p.(Gln226Profs*17)" "5" "0000501624" "00007883" "99" "676" "0" "676" "0" "c.676dup" "r.(?)" "p.(Gln226Profs*17)" "5" "0000501625" "00007883" "99" "676" "0" "676" "0" "c.676dup" "r.(?)" "p.(Gln226Profs*17)" "5" "0000501626" "00007883" "99" "676" "0" "676" "0" "c.676dup" "r.(?)" "p.(Gln226Profs*17)" "5" "0000501627" "00007883" "99" "676" "0" "676" "0" "c.676dup" "r.(?)" "p.(Gln226Profs*17)" "5" "0000501628" "00007883" "99" "676" "0" "676" "0" "c.676dup" "r.(?)" "p.(Gln226Profs*17)" "5" "0000501629" "00007883" "99" "676" "0" "676" "0" "c.676dup" "r.(?)" "p.(Gln226Profs*17)" "5" "0000501630" "00007883" "99" "676" "0" "676" "0" "c.676dup" "r.(?)" "p.(Gln226Profs*17)" "5" "0000501631" "00007883" "90" "532" "205" "746" "691" "c.532+205_746+691del" "r.?" "p.(Ser179Glyfs*2)" "4i_5i" "0000501632" "00007883" "99" "750" "0" "750" "0" "c.750G>A" "r.(?)" "p.(Trp250*)" "6" "0000501633" "00007883" "99" "787" "0" "787" "0" "c.787C>T" "r.(?)" "p.(Gln263*)" "6" "0000501634" "00007883" "99" "787" "0" "787" "0" "c.787C>T" "r.(?)" "p.(Gln263*)" "6" "0000501635" "00007883" "90" "787" "0" "787" "0" "c.787C>T" "r.(?)" "p.(Gln263*)" "6" "0000501636" "00007883" "99" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(Arg271*)" "6" "0000501637" "00007883" "99" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(Arg271*)" "6" "0000501638" "00007883" "99" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(Arg271*)" "6" "0000501639" "00007883" "99" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(Arg271*)" "6" "0000501640" "00007883" "99" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(Arg271*)" "6" "0000501641" "00007883" "99" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(Arg271*)" "6" "0000501642" "00007883" "99" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(Arg271*)" "6" "0000501643" "00007883" "99" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(Arg271*)" "6" "0000501644" "00007883" "99" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(Arg271*)" "6" "0000501645" "00007883" "99" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(Arg271*)" "6" "0000501646" "00007883" "99" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(Arg271*)" "6" "0000501647" "00007883" "99" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(Arg271*)" "6" "0000501648" "00007883" "99" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(Arg271*)" "6" "0000501649" "00007883" "99" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(Arg271*)" "6" "0000501650" "00007883" "99" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(Arg271*)" "6" "0000501651" "00007883" "99" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(Arg271*)" "6" "0000501652" "00007883" "99" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(Arg271*)" "6" "0000501653" "00007883" "99" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(Arg271*)" "6" "0000501654" "00007883" "99" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(Arg271*)" "6" "0000501655" "00007883" "99" "862" "0" "862" "0" "c.862C>T" "r.(?)" "p.(Arg288*)" "7" "0000501656" "00007883" "99" "862" "0" "862" "0" "c.862C>T" "r.(?)" "p.(Arg288*)" "7" "0000501657" "00007883" "99" "862" "0" "862" "0" "c.862C>T" "r.(?)" "p.(Arg288*)" "7" "0000501658" "00007883" "99" "866" "0" "867" "0" "c.866_867insGG" "r.(?)" "p.(Ile289Metfs*15)" "7" "0000501659" "00007883" "50" "889" "0" "889" "0" "c.889A>G" "r.(?)" "p.(Arg297Gly)" "7" "0000501660" "00007883" "99" "905" "0" "905" "0" "c.905T>A" "r.(?)" "p.(Leu302*)" "7" "0000501661" "00007883" "99" "910" "0" "910" "0" "c.910G>T" "r.(?)" "p.(Glu304*)" "7" "0000501662" "00007883" "99" "910" "0" "910" "0" "c.910G>T" "r.(?)" "p.(Glu304*)" "7" "0000501663" "00007883" "99" "910" "0" "910" "0" "c.910G>T" "r.(?)" "p.(Glu304*)" "7" "0000501664" "00007883" "99" "910" "0" "910" "0" "c.910G>T" "r.(?)" "p.(Glu304*)" "7" "0000501665" "00007883" "99" "910" "0" "910" "0" "c.910G>T" "r.(?)" "p.(Glu304*)" "7" "0000501666" "00007883" "99" "910" "0" "910" "0" "c.910G>T" "r.(?)" "p.(Glu304*)" "7" "0000501667" "00007883" "90" "910" "0" "910" "0" "c.910G>T" "r.(?)" "p.(Glu304*)" "7" "0000501668" "00007883" "90" "957" "1" "957" "1" "c.957+1G>A" "r.spl" "p.?" "7i" "0000501669" "00007883" "99" "958" "-1" "958" "-1" "c.958-1G>A" "r.spl" "p.?" "7i" "0000501670" "00007883" "99" "958" "-1" "958" "-1" "c.958-1G>A" "r.spl" "p.?" "7i" "0000501671" "00007883" "99" "958" "-1" "958" "-1" "c.958-1G>A" "r.spl" "p.?" "7i" "0000501672" "00007883" "99" "958" "-1" "958" "-1" "c.958-1G>A" "r.spl" "p.?" "7i" "0000501673" "00007883" "90" "994" "0" "995" "0" "c.994_995del" "r.(?)" "p.(Gln332Glyfs*9)" "8" "0000501674" "00007883" "90" "994" "0" "995" "0" "c.994_995del" "r.(?)" "p.(Gln332Glyfs*9)" "8" "0000501675" "00007883" "99" "1051" "0" "1051" "0" "c.1051G>T" "r.(?)" "p.(Glu351*)" "8" "0000501676" "00007883" "99" "1089" "1" "1089" "1" "c.1089+1del" "r.spl" "p.?" "8i" "0000501677" "00007883" "99" "1089" "1" "1089" "1" "c.1089+1del" "r.spl" "p.?" "8i" "0000501678" "00007883" "99" "1089" "1" "1089" "1" "c.1089+1del" "r.spl" "p.?" "8i" "0000501679" "00007883" "90" "1139" "2" "1139" "2" "c.1139+2T>C" "r.spl" "p.?" "9i" "0000501680" "00007883" "99" "1140" "-6" "1140" "-6" "c.1140-6T>A" "r.spl" "p.?" "9i" "0000501681" "00007883" "99" "1161" "0" "1161" "0" "c.1161del" "r.(?)" "p.(Ala388Leufs*14)" "10" "0000501682" "00007883" "99" "1161" "0" "1161" "0" "c.1161del" "r.(?)" "p.(Ala388Leufs*14)" "10" "0000501683" "00007883" "99" "1161" "0" "1161" "0" "c.1161del" "r.(?)" "p.(Ala388Leufs*14)" "10" "0000501684" "00007883" "99" "1161" "0" "1161" "0" "c.1161del" "r.(?)" "p.(Ala388Leufs*14)" "10" "0000501685" "00007883" "90" "1176" "0" "1176" "0" "c.1176T>G" "r.(?)" "p.(Tyr392*)" "10" "0000501686" "00007883" "99" "1188" "0" "1188" "0" "c.1188dup" "r.(?)" "p.(Lys397*)" "10" "0000501687" "00007883" "77" "1198" "0" "1198" "0" "c.1198T>C" "r.(?)" "p.(Ser400Pro)" "10" "0000501688" "00007883" "99" "1209" "0" "1209" "0" "c.1209C>G" "r.(?)" "p.(Tyr403*)" "10" "0000501689" "00007883" "99" "1209" "0" "1209" "0" "c.1209C>G" "r.(?)" "p.(Tyr403*)" "10" "0000501690" "00007883" "99" "1209" "0" "1209" "0" "c.1209C>G" "r.(?)" "p.(Tyr403*)" "10" "0000501691" "00007883" "99" "1217" "0" "1217" "0" "c.1217dup" "r.(?)" "p.(Asn406Lysfs*2)" "10" "0000501692" "00007883" "99" "1217" "0" "1217" "0" "c.1217dup" "r.(?)" "p.(Asn406Lysfs*2)" "10" "0000501693" "00007883" "99" "1217" "0" "1217" "0" "c.1217dup" "r.(?)" "p.(Asn406Lysfs*2)" "10" "0000501694" "00007883" "99" "1264" "1" "1264" "1" "c.1264+1G>A" "r.spl" "p.?" "10i" "0000501695" "00007883" "99" "1264" "1" "1264" "1" "c.1264+1G>A" "r.spl" "p.?" "10i" "0000501696" "00007883" "99" "1264" "1" "1264" "1" "c.1264+1G>A" "r.spl" "p.?" "10i" "0000501697" "00007883" "99" "1365" "0" "1371" "3" "c.1365_1371+3del" "r.spl" "p.(Cys455Argfs*36)" "11" "0000501698" "00007883" "99" "1371" "4" "1371" "4" "c.1371+4A>G" "r.spl?" "p.?" "11i" "0000501699" "00007883" "99" "1378" "0" "1378" "0" "c.1378C>T" "r.(?)" "p.(Gln460*)" "12" "0000501700" "00007883" "90" "1383" "0" "1383" "0" "c.1383C>A" "r.(?)" "p.(Tyr461*)" "12" "0000501701" "00007883" "99" "1404" "0" "1404" "0" "c.1404C>A" "r.(?)" "p.(Cys468*)" "12" "0000501702" "00007883" "99" "1546" "0" "1546" "0" "c.1546G>T" "r.(?)" "p.(Glu516*)" "12" "0000501703" "00007883" "77" "1675" "0" "1675" "0" "c.1675T>C" "r.(?)" "p.(Trp559Arg)" "13" "0000501704" "00007883" "99" "1677" "0" "1677" "0" "c.1677G>A" "r.(?)" "p.(Trp559*)" "13" "0000501705" "00007883" "99" "1714" "0" "1715" "0" "c.1714_1715insA" "r.(?)" "p.(Val572Aspfs*4)" "13" "0000501706" "00007883" "99" "1714" "0" "1715" "0" "c.1714_1715insA" "r.(?)" "p.(Val572Aspfs*4)" "13" "0000501707" "00007883" "99" "1714" "0" "1715" "0" "c.1714_1715insA" "r.(?)" "p.(Val572Aspfs*4)" "13" "0000501708" "00007883" "99" "1718" "1" "1718" "1" "c.1718+1G>A" "r.spl" "p.?" "13i" "0000501709" "00007883" "99" "1718" "1" "1718" "1" "c.1718+1G>A" "r.spl" "p.?" "13i" "0000501710" "00007883" "99" "1718" "2" "1718" "2" "c.1718+2T>C" "r.spl" "p.?" "13i" "0000501711" "00007883" "99" "1718" "2" "1718" "2" "c.1718+2T>C" "r.spl" "p.?" "13i" "0000501712" "00007883" "99" "1718" "2" "1718" "2" "c.1718+2T>C" "r.spl" "p.?" "13i" "0000501713" "00007883" "90" "1718" "2" "1718" "2" "c.1718+2T>C" "r.spl" "p.?" "13i" "0000501714" "00007883" "99" "1718" "2" "1718" "2" "c.1718+2T>C" "r.spl" "p.?" "13i" "0000501715" "00007883" "99" "1719" "-1" "1719" "-1" "c.1719-1G>A" "r.spl" "p.?" "13i" "0000501716" "00007883" "77" "1860" "1" "1861" "-1" "c.1860+1_1861-1ins(?)" "r.?" "p.?" "14i" "0000501717" "00007883" "99" "1729" "0" "1729" "0" "c.1729del" "r.(?)" "p.(Ser577Alafs*14)" "14" "0000501718" "00007883" "99" "1756" "0" "1756" "0" "c.1756del" "r.(?)" "p.(Ser586Hisfs*5)" "14" "0000501719" "00007883" "99" "1761" "0" "1761" "0" "c.1761T>A" "r.(?)" "p.(Tyr587*)" "14" "0000501722" "00007883" "99" "1848" "0" "1848" "0" "c.1848G>A" "r.(?)" "p.(Trp616*)" "14" "0000501723" "00007883" "99" "1848" "0" "1851" "0" "c.1848_1851dup" "r.(?)" "p.(Thr618Glyfs*10)" "14" "0000501724" "00007883" "99" "1848" "0" "1851" "0" "c.1848_1851dup" "r.(?)" "p.(Thr618Glyfs*10)" "14" "0000501725" "00007883" "99" "1848" "0" "1851" "0" "c.1848_1851dup" "r.(?)" "p.(Thr618Glyfs*10)" "14" "0000501726" "00007883" "99" "1848" "0" "1851" "0" "c.1848_1851dup" "r.(?)" "p.(Thr618Glyfs*10)" "14" "0000501727" "00007883" "99" "1848" "0" "1851" "0" "c.1848_1851dup" "r.(?)" "p.(Thr618Glyfs*10)" "14" "0000501728" "00007883" "99" "1848" "0" "1851" "0" "c.1848_1851dup" "r.(?)" "p.(Thr618Glyfs*10)" "14" "0000501729" "00007883" "99" "1848" "0" "1851" "0" "c.1848_1851dup" "r.(?)" "p.(Thr618Glyfs*10)" "14" "0000501730" "00007883" "99" "1860" "2" "1860" "2" "c.1860+2T>C" "r.spl" "p.?" "14i" "0000501731" "00007883" "99" "1861" "-1" "1861" "-1" "c.1861-1G>C" "r.spl" "p.?" "14i" "0000501732" "00007883" "99" "1867" "0" "1869" "0" "c.1867_1869del" "r.(?)" "p.(Ile623del)" "15" "0000501733" "00007883" "99" "1909" "0" "1909" "0" "c.1909del" "r.(?)" "p.(Ser637Valfs*36)" "15" "0000618246" "00007883" "90" "931" "0" "931" "0" "c.931G>T" "r.(?)" "p.(Glu311Ter)" "" "0000618259" "00007883" "90" "677" "0" "677" "0" "c.677dup" "r.(?)" "p.(Ser227ValfsTer16)" "" "0000675169" "00007883" "90" "895" "0" "895" "0" "c.895dup" "r.(?)" "p.(Ala299Glyfs*8)" "" "0000675175" "00007883" "90" "1139" "740" "1139" "740" "c.1139+740G>A" "r.1139_1140ins1139+742_1139_865" "p.Pro381Hisfs*16" "9i" "0000675176" "00007883" "90" "1139" "740" "1139" "740" "c.1139+740G>A" "r.spl" "p.?" "9i" "0000675177" "00007883" "90" "1139" "740" "1139" "740" "c.1139+740G>A" "r.spl" "p.?" "9i" "0000675178" "00007883" "90" "1139" "740" "1139" "740" "c.1139+740G>A" "r.spl" "p.?" "9i" "0000675179" "00007883" "90" "676" "0" "676" "0" "c.676del" "r.(?)" "p.(Gln226Serfs*26)" "" "0000711066" "00007883" "90" "385" "2" "385" "2" "c.385+2T>C" "r.spl" "p.?" "" "0000711067" "00007883" "90" "385" "2" "385" "2" "c.385+2T>C" "r.spl" "p.?" "" "0000711068" "00007883" "90" "910" "0" "910" "0" "c.910G>T" "r.(?)" "p.(Glu304*)" "" "0000711069" "00007883" "90" "464" "0" "464" "0" "c.464del" "r.(?)" "p.(Asn155Ilefs*6)" "" "0000711070" "00007883" "90" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(Arg271*)" "" "0000711071" "00007883" "90" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Arg110*)" "" "0000711072" "00007883" "90" "676" "0" "676" "0" "c.676dup" "r.(?)" "p.(Gln226Profs*17)" "" "0000711073" "00007883" "90" "1714" "0" "1715" "0" "c.1714_1715insA" "r.(?)" "p.(Val572Aspfs*4)" "" "0000711074" "00007883" "90" "464" "0" "464" "0" "c.464del" "r.(?)" "p.(Asn155Ilefs*6)" "" "0000711075" "00007883" "90" "1161" "0" "1161" "0" "c.1161del" "r.(?)" "p.(Ala388Leufs*14)" "" "0000711076" "00007883" "90" "1718" "2" "1718" "2" "c.1718+2T>C" "r.spl" "p.?" "" "0000711077" "00007883" "90" "1140" "-2165" "1371" "441" "c.1140-2165_1371+441del" "r.?" "p.?" "9i_11i" "0000711078" "00007883" "90" "1848" "0" "1851" "0" "c.1848_1851dup" "r.(?)" "p.(Thr618Glyfs*10)" "" "0000711079" "00007883" "90" "1848" "0" "1851" "0" "c.1848_1851dup" "r.(?)" "p.(Thr618Glyfs*10)" "" "0000711080" "00007883" "90" "787" "0" "787" "0" "c.787C>T" "r.(?)" "p.(Gln263*)" "" "0000711081" "00007883" "90" "385" "2" "385" "2" "c.385+2T>C" "r.spl" "p.?" "" "0000711082" "00007883" "90" "787" "0" "787" "0" "c.787C>T" "r.(?)" "p.(Gln263*)" "" "0000711083" "00007883" "90" "910" "0" "910" "0" "c.910G>T" "r.(?)" "p.(Glu304*)" "" "0000711084" "00007883" "90" "1719" "-1" "1719" "-1" "c.1719-1G>A" "r.spl" "p.?" "" "0000711085" "00007883" "90" "1714" "0" "1715" "0" "c.1714_1715insA" "r.(?)" "p.(Val572Aspfs*4)" "" "0000711086" "00007883" "90" "385" "2" "385" "2" "c.385+2T>C" "r.spl" "p.?" "" "0000711087" "00007883" "90" "676" "0" "676" "0" "c.676dup" "r.(?)" "p.(Gln226Profs*17)" "" "0000711088" "00007883" "90" "1714" "0" "1715" "0" "c.1714_1715insA" "r.(?)" "p.(Val572Aspfs*4)" "" "0000711089" "00007883" "90" "1161" "0" "1161" "0" "c.1161del" "r.(?)" "p.(Ala388Leufs*14)" "" "0000711090" "00007883" "90" "787" "0" "787" "0" "c.787C>T" "r.(?)" "p.(Gln263*)" "" "0000711091" "00007883" "90" "1161" "0" "1161" "0" "c.1161del" "r.(?)" "p.(Ala388Leufs*14)" "" "0000711092" "00007883" "90" "1140" "-2165" "1371" "441" "c.1140-2165_1371+441del" "r.?" "p.?" "9i_11i" "0000711093" "00007883" "90" "170" "0" "170" "0" "c.170C>A" "r.(?)" "p.(Ser57*)" "" "0000711094" "00007883" "90" "958" "-1" "958" "-1" "c.958-1G>A" "r.spl" "p.?" "" "0000711095" "00007883" "90" "1718" "1" "1718" "1" "c.1718+1G>A" "r.spl" "p.?" "" "0000711096" "00007883" "90" "456" "0" "456" "0" "c.456dup" "r.(?)" "p.(Asp153Argfs*4)" "" "0000711097" "00007883" "90" "0" "0" "0" "0" "c.1719-998_*2328{0}" "r.?" "p.?" "13i_15_" "0000711098" "00007883" "90" "958" "-1" "958" "-1" "c.958-1G>A" "r.spl" "p.?" "" "0000711099" "00007883" "90" "1209" "0" "1209" "0" "c.1209C>G" "r.(?)" "p.(Tyr403*)" "" "0000711100" "00007883" "90" "1365" "0" "1371" "3" "c.1365_1371+3del" "r.spl" "p.?" "" "0000711101" "00007883" "90" "958" "-1" "958" "-1" "c.958-1G>A" "r.spl" "p.?" "" "0000711102" "00007883" "90" "910" "0" "910" "0" "c.910G>T" "r.(?)" "p.(Glu304*)" "" "0000711103" "00007883" "90" "0" "0" "0" "0" "c.1719-998_*2328{0}" "r.?" "p.?" "13i_15_" "0000711104" "00007883" "90" "1140" "-2165" "1371" "441" "c.1140-2165_1371+441del" "r.?" "p.?" "9i_11i" "0000711105" "00007883" "90" "373" "0" "373" "0" "c.373del" "r.(?)" "p.(Cys125Alafs*4)" "" "0000711106" "00007883" "90" "958" "-1" "958" "-1" "c.958-1G>A" "r.spl" "p.?" "" "0000711107" "00007883" "90" "152" "-2" "152" "-2" "c.152-2delinsCT" "r.spl" "p.?" "" "0000711108" "00007883" "90" "96" "0" "97" "0" "c.96_97del" "r.(?)" "p.(Arg32Serfs*63)" "" "0000711109" "00007883" "90" "0" "0" "0" "0" "c.1719-998_*2328{0}" "r.?" "p.?" "13i_15_" "0000711110" "00007883" "90" "1209" "0" "1209" "0" "c.1209C>G" "r.(?)" "p.(Tyr403*)" "" "0000711111" "00007883" "90" "1140" "-2165" "1371" "441" "c.1140-2165_1371+441del" "r.?" "p.?" "9i_11i" "0000711112" "00007883" "90" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Arg110*)" "" "0000711113" "00007883" "90" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Arg110*)" "" "0000711114" "00007883" "90" "1217" "0" "1217" "0" "c.1217dup" "r.(?)" "p.(Asn406Lysfs*2)" "" "0000711115" "00007883" "90" "341" "0" "341" "0" "c.341C>G" "r.(?)" "p.(Ser114*)" "" "0000711116" "00007883" "90" "1140" "-2165" "1371" "441" "c.1140-2165_1371+441del" "r.?" "p.?" "9i_11i" "0000711117" "00007883" "90" "" "0" "" "0" "c.1719-998_*2328{0}" "r.?" "p.?" "13i_15_" "0000711118" "00007883" "90" "" "0" "" "0" "c.1719-998_*2328{0}" "r.?" "p.?" "13i_15_" "0000711119" "00007883" "90" "" "0" "" "0" "c.1719-998_*2328{0}" "r.?" "p.?" "13i_15_" "0000727809" "00007883" "30" "1661" "0" "1661" "0" "c.1661G>T" "r.(?)" "p.(Arg554Leu)" "" "0000727816" "00007883" "50" "293" "0" "293" "0" "c.293G>A" "r.(?)" "p.(Arg98His)" "" "0000840039" "00007883" "30" "293" "0" "293" "0" "c.293G>A" "r.(?)" "p.(Arg98His)" "" "0000881219" "00007883" "90" "676" "0" "676" "0" "c.676dup" "r.(?)" "p.(Gln226ProfsTer17)" "" "0000881220" "00007883" "90" "676" "0" "676" "0" "c.676dup" "r.(?)" "p.(Gln226ProfsTer17)" "" "0000881867" "00007883" "90" "1171" "0" "1171" "0" "c.1171C>T" "r.(?)" "p.(Gln391*)" "10" "0000895407" "00007883" "50" "712" "0" "712" "0" "c.712C>G" "r.(?)" "p.(Arg238Gly)" "" "0000927036" "00007883" "30" "1856" "0" "1856" "0" "c.1856G>A" "r.(?)" "p.(Arg619Gln)" "" "0000927037" "00007883" "30" "1594" "-6" "1594" "-6" "c.1594-6G>A" "r.(=)" "p.(=)" "" "0000927038" "00007883" "30" "1077" "0" "1077" "0" "c.1077G>A" "r.(?)" "p.(Ala359=)" "" "0000927039" "00007883" "30" "958" "-18" "958" "-18" "c.958-18C>T" "r.(=)" "p.(=)" "" "0000931193" "00007883" "10" "1861" "-8" "1861" "-8" "c.1861-8T>C" "r.(=)" "p.(=)" "" "0000931194" "00007883" "30" "882" "0" "882" "0" "c.882G>A" "r.(?)" "p.(=)" "" "0000931201" "00007883" "30" "306" "0" "306" "0" "c.306G>A" "r.(?)" "p.(=)" "" "0001005515" "00007883" "50" "1384" "0" "1384" "0" "c.1384G>A" "r.(?)" "p.(Ala462Thr)" "" "0001067293" "00007883" "50" "637" "0" "637" "0" "c.637G>A" "r.(?)" "p.(Glu213Lys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 243 "{{screeningid}}" "{{variantid}}" "0000248624" "0000501553" "0000248624" "0000501564" "0000248625" "0000501554" "0000248625" "0000675169" "0000248626" "0000501555" "0000248626" "0000501562" "0000248627" "0000501556" "0000248628" "0000501557" "0000248629" "0000501558" "0000248630" "0000501559" "0000248631" "0000501560" "0000248632" "0000501561" "0000248633" "0000501563" "0000248634" "0000501565" "0000248635" "0000501566" "0000248636" "0000501567" "0000248637" "0000501568" "0000248638" "0000501569" "0000248639" "0000501570" "0000248640" "0000501571" "0000248641" "0000501572" "0000248641" "0000501730" "0000248642" "0000501573" "0000248643" "0000501574" "0000248644" "0000501575" "0000248644" "0000501609" "0000248645" "0000501576" "0000248646" "0000501577" "0000248647" "0000501578" "0000248648" "0000501579" "0000248649" "0000501580" "0000248650" "0000501581" "0000248651" "0000501582" 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