### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = WRN) # 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}}" "WRN" "Werner syndrome, RecQ helicase-like" "8" "p12" "unknown" "NG_008870.1" "UD_132118381548" "" "https://www.LOVD.nl/WRN" "Werner syndrome registry " "1" "12791" "7486" "604611" "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/WRN_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2022-10-30 15:36:03" "00000" "2025-11-01 13:22:20" ## 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}}" "00001669" "WRN" "Werner syndrome, RecQ helicase-like" "001" "NM_000553.4" "" "NP_000544.2" "" "" "" "-788" "4958" "4299" "30890778" "31031277" "00000" "2012-09-13 13:45:17" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{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" "00318" "cancer, breast" "cancer, breast" "" "" "" "" "" "00006" "2014-02-02 14:42:53" "00006" "2019-08-28 08:24:47" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02128" "WRN" "Werner syndrome (WRN)" "AR" "277700" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04296" "MINAS" "neoplasia, multiple inherited alleles (MINAS)" "AD;AR;SMo" "" "" "" "" "00006" "2015-07-02 09:20:44" "00006" "2021-12-10 21:51:32" "05093" "cancer" "cancer" "" "" "" "" "" "00006" "2015-10-23 13:34:05" "" "" "05129" "AGS" "Aicardi-Goutieres syndrome (AGS)" "" "" "" "" "" "00006" "2016-02-03 07:50:41" "" "" "05489" "cancer, colon" "cancer, colon" "" "" "" "" "" "00006" "2018-10-26 16:33:57" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "WRN" "02128" ## Individuals ## Do not remove or alter this header ## ## Count = 269 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00248224" "" "" "" "1" "" "01474" "{PMID:Lhota 2016:26822949}" "analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2" "F" "no" "Czech Republic" "" "0" "" "" "" "" "00248268" "" "" "" "1" "" "01474" "{PMID:Lhota 2016:26822949}" "analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2" "F" "no" "Czech Republic" "" "0" "" "" "" "" "00294626" "" "" "" "119" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294627" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00299642" "" "" "" "1" "" "00006" "{PMID:Arno 2017:28132693}" "3-generation family, 1 affeted, unaffected heterozygous carrier parents/relatives" "F" "yes" "" "" "0" "" "" "" "FamGC17880Pat3" "00305196" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00406913" "" "" "" "1" "" "00006" "{PMID:Jiang 2022:33563768}" "analysis 486 colorectal cancer patients" "M" "" "China" "" "0" "" "" "" "370275" "00406914" "" "" "" "1" "" "00006" "{PMID:Jiang 2022:33563768}" "analysis 486 colorectal cancer patients" "M" "" "China" "" "0" "" "" "" "370518" "00406998" "" "" "" "2" "" "00006" "{PMID:Jiang 2022:33563768}" "analysis 486 colorectal cancer patients" "" "" "China" "" "0" "" "" "" "" "00414522" "" "" "" "1" "" "00103" "" "" "F" "" "Spain" "" "" "" "" "" "" "00414523" "" "" "" "1" "" "00103" "" "" "F" "" "Spain" "" "" "" "" "" "" "00414524" "" "" "" "1" "" "00103" "" "" "F" "" "Spain" "" "" "" "" "" "" "00414525" "" "" "" "1" "" "00103" "" "" "F" "" "Spain" "" "" "" "" "" "" "00414526" "" "" "" "1" "" "00103" "" "" "F" "" "Spain" "" "" "" "" "" "" "00419975" "" "" "" "1" "" "00006" "{PMID:Saha 2013:23936869}" "4-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "India" "" "0" "" "" "Kerala" "KERA1010PatIII3" "00419976" "" "" "" "1" "" "00006" "{PMID:Saha 2013:23936869}" "5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "YOSI1010PatIV2" "00419997" "" "" "" "1" "" "00006" "{PMID:Friedrich 2010:20443122}, {PMID:Saha 2013:23936869}" "4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "India" "" "0" "" "" "" "VELO1010PatIV2" "00419998" "" "" "" "3" "" "00006" "{PMID:Yang 2015:26241669}" "3-generation family, 3 affected (3F)" "F" "" "China" "" "0" "" "" "" "FamPatII2" "00419999" "" "" "" "1" "" "00006" "{PMID:Lessel 2014:24989684}" "" "M" "yes" "Turkey" "" "0" "" "" "" "patient" "00420040" "" "" "" "1" "" "00006" "{PMID:Huang 2006:16673358}" "" "F" "" "Germany" "" "0" "" "" "" "WU1010" "00420041" "" "" "" "1" "" "00006" "{PMID:Friedrich 2010:20443122}" "" "" "" "France" "" "0" "" "" "" "CP97510" "00420042" "" "" "" "1" "" "00006" "{PMID:Friedrich 2010:20443122}" "" "" "" "Turkey" "" "0" "" "" "" "CO1010" "00420043" "" "" "" "1" "" "00006" "{PMID:Huang 2006:16673358}" "" "" "" "France" "" "0" "" "" "white" "ABCDE10010;AB1010" "00420044" "" "" "" "1" "" "00006" "{PMID:Friedrich 2010:20443122}, {PMID:Miller 2022:35534204}" "" "M" "" "United States" "" "0" "" "" "" "SI1010" "00420045" "" "" "" "1" "" "00006" "{PMID:Friedrich 2010:20443122}" "" "" "" "Germany" "" "0" "" "" "" "HN2010" "00420047" "" "" "" "1" "" "00006" "{PMID:Friedrich 2010:20443122}" "" "" "" "Netherlands" "" "0" "" "" "" "UT010" "00420085" "" "" "" "1" "" "00006" "{PMID:Miller 2022:35534204}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "" "" "0" "" "" "" "EN1010" "00420086" "" "" "" "1" "" "00006" "{PMID:Miller 2022:35534204}" "" "M" "" "" "" "0" "" "" "Asia-S" "PD1010" "00420087" "" "" "" "2" "" "00006" "{PMID:Yokote 2017:27667302}, {PMID:Miller 2022:35534204}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "no" "Poland" "" "0" "" "" "" "BIA1010" "00420088" "" "" "00420087" "1" "" "00006" "{PMID:Yokote 2017:27667302}, {PMID:Miller 2022:35534204}" "brother" "M" "no" "Poland" "" "0" "" "" "" "BIA1020" "00420089" "" "" "" "1" "" "00006" "{PMID:Miller 2022:35534204}" "" "" "no" "Japan" "" "0" "" "" "" "CB4" "00420090" "" "" "" "1" "" "00006" "{PMID:Miller 2022:35534204}" "" "" "no" "Japan" "" "0" "" "" "" "CB6" "00420091" "" "" "" "1" "" "00006" "{PMID:Bennett 1997:9230208}, {PMID:Miller 2022:35534204}" "" "" "" "United States" "" "0" "" "" "" "WV" "00420092" "" "" "" "1" "" "00006" "{PMID:Yu 1997:9012406}, {PMID:Miller 2022:35534204}" "" "" "" "Germany" "" "0" "" "" "" "FES" "00420342" "" "" "" "1" "" "00006" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Japan" "" "0" "" "" "" "12401" "00420343" "" "" "" "1" "" "00006" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Japan" "" "0" "" "" "" "11601" "00420344" "" "" "" "1" "" "00006" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Japan" "" "0" "" "" "" "0402" "00420345" "" "" "" "1" "" "00006" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Japan" "" "0" "" "" "" "4601" "00420346" "" "" "" "1" "" "00006" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Japan" "" "0" "" "" "" "7201" "00420347" "" "" "" "1" "" "00006" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Japan" "" "0" "" "" "" "12601" "00420348" "" "" "" "1" "" "00006" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Japan" "" "0" "" "" "" "7001" "00420349" "" "" "" "1" "" "00006" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Japan" "" "0" "" "" "" "24002" "00420350" "" "" "" "1" "" "00006" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Japan" "" "0" "" "" "" "5001" "00420351" "" "" "" "1" "" "00006" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Japan" "" "0" "" "" "" "6601" "00420352" "" "" "" "1" "" "00006" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Japan" "" "0" "" "" "" "0801" "00420353" "" "" "" "1" "" "00006" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Japan" "" "0" "" "" "" "2101" "00420354" "" "" "" "1" "" "00006" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Japan" "" "0" "" "" "" "11801" "00420355" "" "" "" "1" "" "00006" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Japan" "" "0" "" "" "" "10801" "00420356" "" "" "" "1" "" "00006" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Japan" "" "0" "" "" "" "6701" "00420357" "" "" "" "1" "" "00006" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Japan" "" "0" "" "" "" "10101" "00420358" "" "" "" "1" "" "00006" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Japan" "" "0" "" "" "" "9101" "00420359" "" "" "" "1" "" "00006" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Japan" "" "0" "" "" "" "9801" "00420360" "" "" "" "1" "" "00006" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Japan" "" "0" "" "" "" "10401" "00420361" "" "" "" "1" "" "00006" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Japan" "" "0" "" "" "" "9601" "00420362" "" "" "" "1" "" "00006" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Japan" "" "0" "" "" "" "8401" "00420363" "" "" "" "1" "" "00006" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Japan" "" "0" "" "" "" "0701" "00420364" "" "" "" "1" "" "00006" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Japan" "" "0" "" "" "" "6001" "00420365" "" "" "" "1" "" "00006" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Japan" "" "0" "" "" "" "7701" "00420366" "" "" "" "1" "" "00006" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Japan" "" "0" "" "" "" "9301" "00420367" "" "" "" "1" "" "00006" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Japan" "" "0" "" "" "" "6103" "00420369" "" "" "" "1" "" "00006" "{PMID:Uhrhammer 2006:16786514}" "" "" "" "France" "" "0" "" "" "" "" "00420370" "" "" "" "3" "" "00006" "{PMID:Uhrhammer 2006:16786514}" "" "" "" "France" "" "0" "" "" "" "" "00420371" "" "" "" "1" "" "00006" "{PMID:Uhrhammer 2006:16786514}" "" "" "" "France" "" "0" "" "" "" "" "00420372" "" "" "" "5" "" "00006" "{PMID:Uhrhammer 2006:16786514}" "" "" "" "France" "" "0" "" "" "" "" "00420373" "" "" "" "2" "" "00006" "{PMID:Uhrhammer 2006:16786514}" "" "" "" "France" "" "0" "" "" "" "" "00420374" "" "" "" "1" "" "00006" "{PMID:Uhrhammer 2006:16786514}" "" "" "" "France" "" "0" "" "" "" "" "00420375" "" "" "" "4" "" "00006" "{PMID:Uhrhammer 2006:16786514}" "" "" "" "France" "" "0" "" "" "" "" "00420376" "" "" "" "1" "" "00006" "{PMID:Uhrhammer 2006:16786514}" "" "" "" "France" "" "0" "" "" "" "" "00420377" "" "" "" "3" "" "00006" "{PMID:Uhrhammer 2006:16786514}" "" "" "" "France" "" "0" "" "" "" "" "00420378" "" "" "" "3" "" "00006" "{PMID:Uhrhammer 2006:16786514}" "" "" "" "France" "" "0" "" "" "" "" "00420379" "" "" "" "10" "" "00006" "{PMID:Uhrhammer 2006:16786514}" "" "" "" "France" "" "0" "" "" "" "" "00420380" "" "" "" "1" "" "00006" "{PMID:Uhrhammer 2006:16786514}" "" "" "" "France" "" "0" "" "" "" "" "00420381" "" "" "" "1" "" "00006" "{PMID:Uhrhammer 2006:16786514}" "" "" "" "France" "" "0" "" "" "" "" "00420382" "" "" "" "3" "" "00006" "{PMID:Uhrhammer 2006:16786514}" "" "" "" "France" "" "0" "" "" "" "" "00420383" "" "" "" "2" "" "00006" "{PMID:Uhrhammer 2006:16786514}" "" "" "" "France" "" "0" "" "" "" "" "00420384" "" "" "" "8" "" "00006" "{PMID:Uhrhammer 2006:16786514}" "" "" "" "France" "" "0" "" "" "" "" "00420385" "" "" "" "2" "" "00006" "{PMID:Uhrhammer 2006:16786514}" "" "" "" "France" "" "0" "" "" "" "" "00420386" "" "" "" "1" "" "00006" "{PMID:Uhrhammer 2006:16786514}" "" "" "" "France" "" "0" "" "" "" "" "00420387" "" "" "" "4" "" "00006" "{PMID:Uhrhammer 2006:16786514}" "" "" "" "France" "" "0" "" "" "" "" "00420388" "" "" "" "5" "" "00006" "{PMID:Uhrhammer 2006:16786514}" "" "" "" "France" "" "0" "" "" "" "" "00420597" "" "" "" "1" "" "00006" "{PMID:Huang 2006:16673358}" "" "" "" "Germany" "" "0" "" "" "white" "STUTT1010" "00420598" "" "" "" "1" "" "00006" "{PMID:Huang 2006:16673358}" "" "" "" "France" "" "0" "" "" "white" "JV90700" "00420599" "" "" "" "1" "" "00006" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Japan" "" "0" "" "" "" "11201" "00420600" "" "" "" "1" "" "00006" "{PMID:Yokote 2017:27667302}" "" "" "" "India" "" "0" "" "" "" "COC1010" "00420601" "" "" "" "1" "" "00006" "{PMID:Huang 2006:16673358}" "" "" "" "France" "" "0" "" "" "white" "CP70530" "00420602" "" "" "" "1" "" "00006" "{PMID:Yokote 2017:27667302}" "" "" "" "Turkey" "" "0" "" "" "" "TIT1010" "00420603" "" "" "" "1" "" "00006" "{PMID:Friedrich 2010:20443122}" "" "" "" "Canada" "" "0" "" "" "white" "TORON1010" "00420604" "" "" "" "1" "" "00006" "{PMID:Huang 2006:16673358}" "" "" "" "Italy" "" "0" "" "" "white" "ROMA1010" "00420605" "" "" "" "1" "" "00006" "{PMID:Friedrich 2010:20443122}" "" "" "" "" "" "0" "" "" "Celtic;white" "AED80300" "00420606" "" "" "" "1" "" "00006" "{PMID:Yu 1997:9012406}" "" "" "" "United States" "" "0" "" "" "white" "AG00780" "00420607" "" "" "" "1" "" "00006" "{PMID:Yu 1997:9012406}" "" "" "" "United States" "" "0" "" "" "white" "AG4103" "00420608" "" "" "" "1" "" "00006" "{PMID:Friedrich 2010:20443122}" "" "" "" "Austria" "" "0" "" "" "white" "AU1010" "00420609" "" "" "" "1" "" "00006" "{PMID:Yokote 2017:27667302}" "" "" "" "Germany" "" "0" "" "" "" "BAFG" "00420610" "" "" "" "1" "" "00006" "{PMID:Yokote 2017:27667302}" "" "" "" "Puerto Rico" "" "0" "" "" "white" "CI1010" "00420611" "" "" "" "1" "" "00006" "{PMID:Friedrich 2010:20443122}" "" "" "" "France" "" "0" "" "" "white" "CLF05010" "00420612" "" "" "" "1" "" "00006" "{PMID:Friedrich 2010:20443122}" "" "" "" "France" "" "0" "" "" "white" "CP2650" "00420613" "" "" "" "1" "" "00006" "{PMID:Yu 1997:9012406}" "" "" "" "France" "" "0" "" "" "white" "CP3" "00420614" "" "" "" "1" "" "00006" "{PMID:Yu 1997:9012406}" "" "" "" "Germany" "" "0" "" "" "white" "DJG" "00420615" "" "" "" "1" "" "00006" "{PMID:Friedrich 2010:20443122}" "" "" "" "Netherlands" "" "0" "" "" "white" "DU1010" "00420616" "" "" "" "1" "" "00006" "{PMID:Friedrich 2010:20443122}" "" "" "" "Germany" "" "0" "" "" "white" "DR1010" "00420617" "" "" "" "1" "" "00006" "{PMID:Yu 1997:9012406}" "" "" "" "Switzerland" "" "0" "" "" "" "" "00420618" "" "" "" "1" "" "00006" "{PMID:Yokote 2017:27667302}" "" "" "" "Germany" "" "0" "" "" "" "FO" "00420619" "" "" "" "1" "" "00006" "{PMID:Friedrich 2010:20443122}" "" "" "" "Japan" "" "0" "" "" "" "HAW1010" "00420620" "" "" "" "1" "" "00006" "{PMID:Friedrich 2010:20443122}" "" "" "" "United States" "" "0" "" "" "white" "INU1010" "00420621" "" "" "" "1" "" "00006" "{PMID:Oshima 1996:8968742}, {PMID:Yu 1997:9012406}" "" "" "" "Japan" "" "0" "" "" "" "KO" "00420622" "" "" "" "1" "" "00006" "{PMID:Oshima 1996:8968742}" "" "" "" "United States" "" "0" "" "" "white" "LGS" "00420623" "" "" "" "1" "" "00006" "{PMID:Yokote 2017:27667302}" "" "" "" "United States" "" "0" "" "" "white" "MARY1010" "00420624" "" "" "" "1" "" "00006" "{PMID:Yokote 2017:27667302}" "" "" "" "Puerto Rico" "" "0" "" "" "white" "MASS1010" "00420625" "" "" "" "1" "" "00006" "{PMID:Yokote 2017:27667302}" "" "" "" "Puerto Rico" "" "0" "" "" "white" "NY1010" "00420626" "" "" "" "1" "" "00006" "{PMID:Oshima 1996:8968742}, {PMID:Yu 1997:9012406}" "" "" "" "Japan" "" "0" "" "" "" "OW" "00420627" "" "" "" "1" "" "00006" "{PMID:Friedrich 2010:20443122}" "" "" "" "Japan" "" "0" "" "" "" "OW90660" "00420628" "" "" "" "1" "" "00006" "{PMID:Yokote 2017:27667302}" "" "" "" "Israel" "" "0" "" "" "" "PETA1010" "00420629" "" "" "" "1" "" "00006" "{PMID:Yokote 2017:27667302}" "" "" "" "Germany" "" "0" "" "" "" "PSML" "00420630" "" "" "" "1" "" "00006" "{PMID:Yokote 2017:27667302}" "" "" "" "Germany" "" "0" "" "" "" "RECN" "00420631" "" "" "" "1" "" "00006" "{PMID:Friedrich 2010:20443122}" "" "" "" "Puerto Rico" "" "0" "" "" "white" "RI1010" "00420632" "" "" "" "1" "" "00006" "{PMID:Friedrich 2010:20443122}" "" "" "" "Puerto Rico" "" "0" "" "" "white" "RI1030" "00420633" "" "" "" "1" "" "00006" "{PMID:Yokote 2017:27667302}" "" "" "" "Germany" "" "0" "" "" "" "WRLR" "00420634" "" "" "" "1" "" "00006" "{PMID:Huang 2006:16673358}" "" "" "" "United States" "" "0" "" "" "white" "PCH70010" "00420635" "" "" "" "1" "" "00006" "{PMID:Huang 2006:16673358}" "" "" "" "France" "" "0" "" "" "" "CL11010" "00420636" "" "" "" "1" "" "00006" "{PMID:Oshima 1996:8968742}" "" "" "" "Brazil" "" "0" "" "" "white" "MIM3" "00420637" "" "" "" "1" "" "00006" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Japan" "" "0" "" "" "" "12001" "00420638" "" "" "" "1" "" "00006" "{PMID:Huang 2006:16673358}" "" "" "" "France" "" "0" "" "" "white" "HE90750" "00420639" "" "" "" "1" "" "00006" "{PMID:Huang 2006:16673358}" "" "" "" "Germany" "" "0" "" "" "" "BERLI1010" "00420640" "" "" "" "1" "" "00006" "{PMID:Huang 2006:16673358}" "" "" "" "Germany" "" "0" "" "" "white" "WURZB8010" "00420641" "" "" "" "1" "" "00006" "{PMID:Yokote 2017:27667302}" "" "" "" "United States" "" "0" "" "" "white" "CHAP1010" "00420642" "" "" "" "1" "" "00006" "{PMID:Friedrich 2010:20443122}" "" "" "" "Netherlands" "" "0" "" "" "" "BO1010" "00420643" "" "" "" "1" "" "00006" "{PMID:Huang 2006:16673358}" "" "" "" "New Zealand" "" "0" "" "" "white" "NEWZ1010" "00420644" "" "" "" "1" "" "00006" "{PMID:Yokote 2017:27667302}" "" "" "" "Japan" "" "0" "" "" "" "CB2" "00420645" "" "" "" "1" "" "00006" "{PMID:Huang 2006:16673358}" "" "" "" "United States" "" "0" "" "" "white" "CDR60010" "00420646" "" "" "" "1" "" "00006" "{PMID:Friedrich 2010:20443122}" "" "" "" "Portugal" "" "0" "" "" "white" "VTC1010" "00420647" "" "" "" "1" "" "00006" "{PMID:Yokote 2017:27667302}" "" "" "" "France" "" "0" "" "" "white" "NF90800" "00420648" "" "" "" "1" "" "00006" "{PMID:Uhrhammer 2006:16786514}" "" "" "" "France" "" "0" "" "" "" "1182-1" "00420649" "" "" "" "1" "" "00006" "{PMID:Yokote 2017:27667302}" "" "" "" "New Zealand" "" "0" "" "" "" "ZE1010" "00420650" "" "" "" "1" "" "00006" "{PMID:Choi 2001:11292662}" "" "" "" "United States" "" "0" "" "" "white" "AG03141B" "00420651" "" "" "" "1" "" "00006" "{PMID:Yu 1997:9012406}" "" "" "" "Italy" "" "0" "" "" "" "MSA90025" "00420652" "" "" "" "1" "" "00006" "{PMID:Yu 1997:9012406}" "" "" "" "Japan" "" "0" "" "" "" "WKH" "00420653" "" "" "" "1" "" "00006" "{PMID:Uhrhammer 2006:16786514}" "" "" "" "France" "" "0" "" "" "" "1465-1" "00420654" "" "" "" "1" "" "00006" "{PMID:Huang 2006:16673358}" "" "" "" "United States" "" "0" "" "" "white" "ASHE1010" "00420655" "" "" "" "1" "" "00006" "{PMID:Yokote 2017:27667302}" "" "" "" "Italy" "" "0" "" "" "" "IT1010" "00420656" "" "" "" "1" "" "00006" "{PMID:Yokote 2017:27667302}" "" "" "" "Italy" "" "0" "" "" "" "IT1020" "00420657" "" "" "" "1" "" "00006" "{PMID:Friedrich 2010:20443122}" "" "" "" "France" "" "0" "" "" "white" "CP87210" "00420658" "" "" "" "1" "" "00006" "{PMID:Yu 1997:9012406}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Indian;Africa-E;Asia" "CTA" "00420659" "" "" "" "1" "" "00006" "{PMID:Friedrich 2010:20443122}" "" "" "" "United States" "" "0" "" "" "white;Jew" "NC8010" "00420660" "" "" "" "1" "" "00006" "{PMID:Oshima 1996:8968742}, {PMID:Friedrich 2010:20443122}" "" "" "" "United States" "" "0" "" "" "white" "SUG1" "00420661" "" "" "" "1" "" "00006" "{PMID:Huang 2006:16673358}" "" "" "" "Germany" "" "0" "" "" "white" "HEID1010" "00420662" "" "" "" "1" "" "00006" "{PMID:Huang 2006:16673358}" "" "" "" "Korea" "" "0" "" "" "" "MAYO1010" "00420663" "" "" "" "1" "" "00006" "{PMID:Huang 2006:16673358}" "" "" "" "Switzerland" "" "0" "" "" "white" "SWISS1010" "00420664" "" "" "" "1" "" "00006" "{PMID:Takada-Watanabe 2012:22188495}" "" "" "" "Japan" "" "0" "" "" "" "patient" "00420665" "" "" "" "1" "" "00006" "{PMID:Friedrich 2010:20443122}" "" "" "" "Afghanistan" "" "0" "" "" "" "USC1010" "00420666" "" "" "" "1" "" "00006" "{PMID:Zhao 2008:18205852}" "" "" "" "China" "" "0" "" "" "" "patient" "00420667" "" "" "" "1" "" "00006" "{PMID:Huang 2006:16673358}" "" "" "" "Puerto Rico" "" "0" "" "" "" "BETHE5010" "00420668" "" "" "" "1" "" "00006" "{PMID:Moser 1999:10220139}" "" "" "" "France" "" "0" "" "" "white" "patient" "00420669" "" "" "" "1" "" "00006" "{PMID:Huang 2006:16673358}" "" "" "" "France" "" "0" "" "" "white" "" "00420670" "" "" "" "1" "" "00006" "{PMID:Huang 2006:16673358}" "" "" "" "France" "" "0" "" "" "white" "" "00420671" "" "" "" "1" "" "00006" "{PMID:Uhrhammer 2006:16786514}" "" "" "" "France" "" "0" "" "" "" "943-1" "00420672" "" "" "" "1" "" "00006" "{PMID:Friedrich 2010:20443122}" "" "" "" "Spain" "" "0" "" "" "white" "SP1010" "00420673" "" "" "" "1" "" "00006" "{PMID:Oshima 1996:8968742}" "" "" "" "Japan" "" "0" "" "" "" "KUN" "00420674" "" "" "" "1" "" "00006" "{PMID:Oshima 1996:8968742}" "" "" "" "Japan" "" "0" "" "" "" "IB" "00420675" "" "" "" "1" "" "00006" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Japan" "" "0" "" "" "" "11701" "00420676" "" "" "" "1" "" "00006" "{PMID:Agrelo 2015:25830902}" "" "" "" "Argentina" "" "0" "" "" "" "Pat1" "00420677" "" "" "" "1" "" "00006" "{PMID:Uhrhammer 2006:16786514}" "" "" "" "France" "" "0" "" "" "" "1684-1" "00420678" "" "" "" "1" "" "00006" "{PMID:Goto 1997:9048918}" "2-generation family, 1 affected, unaffected heterozygous carrier parents M" "" "" "Japan" "" "0" "" "" "" "WS0101" "00420679" "" "" "" "1" "" "00006" "{PMID:Friedrich 2010:20443122}" "" "" "" "Germany" "" "0" "" "" "white" "CH1010" "00420680" "" "" "" "1" "" "00006" "{PMID:Friedrich 2010:20443122}" "" "" "" "Netherlands" "" "0" "" "" "" "UT1010" "00420681" "" "" "" "1" "" "00006" "{PMID:Yokote 2017:27667302}" "" "" "" "India" "" "0" "" "" "" "" "00420682" "" "" "" "1" "" "00006" "{PMID:Friedrich 2010:20443122}" "" "" "" "United States" "" "0" "" "" "white" "SA2010" "00420683" "" "" "" "1" "" "00006" "{PMID:Huang 2006:16673358}" "" "" "" "Austria" "" "0" "" "" "white" "" "00420684" "" "" "" "1" "" "00006" "{PMID:Yu 1996:8602509}, {PMID:Yu 1997:9012406}" "" "" "" "Mexico" "" "0" "" "" "Hispanic" "GAR" "00420685" "" "" "" "1" "" "00006" "{PMID:Yu 1996:8602509}, {PMID:Yu 1997:9012406}" "" "" "" "Japan" "" "0" "" "" "" "HH" "00420686" "" "" "" "1" "" "00006" "{PMID:Yu 1996:8602509}, {PMID:Yu 1997:9012406}" "" "" "" "Japan" "" "0" "" "" "" "HM" "00420687" "" "" "" "1" "" "00006" "{PMID:Yu 1996:8602509}, {PMID:Yu 1997:9012406}" "" "" "" "Japan" "" "0" "" "" "" "MH" "00420688" "" "" "" "1" "" "00006" "{PMID:Friedrich 2010:20443122}" "" "" "" "Japan" "" "0" "" "" "" "NN90150" "00420689" "" "" "" "1" "" "00006" "{PMID:Yokote 2017:27667302}" "" "" "" "" "" "0" "" "" "Hispanic" "PA1010" "00420690" "" "" "" "1" "" "00006" "{PMID:Oshima 1996:8968742}" "" "" "" "Austria" "" "0" "" "" "white" "AUS" "00420691" "" "" "" "1" "" "00006" "{PMID:Friedrich 2010:20443122}" "" "" "" "Spain" "" "0" "" "" "white" "MA1010" "00420692" "" "" "" "1" "" "00006" "{PMID:Friedrich 2010:20443122}" "" "" "" "Spain" "" "0" "" "" "white" "MA1020" "00420693" "" "" "" "1" "" "00006" "{PMID:Friedrich 2010:20443122}" "" "" "" "Spain" "" "0" "" "" "white" "MA1030" "00420694" "" "" "" "1" "" "00006" "{PMID:Friedrich 2010:20443122}" "" "" "" "Spain" "" "0" "" "" "white" "MA1040" "00420695" "" "" "" "1" "" "00006" "{PMID:Masala 2007:17478382}" "" "" "" "Italy" "" "0" "" "" "Sardinia;white" "?" "00420696" "" "" "" "1" "" "00006" "{PMID:Masala 2007:17478382}" "" "" "" "Italy" "" "0" "" "" "Sardinia;white" "?" "00420697" "" "" "" "1" "" "00006" "{PMID:Oshima 1996:8968742}" "" "" "" "Italy" "" "0" "" "" "Sardinia;white" "SEP" "00420698" "" "" "" "1" "" "00006" "{PMID:Huang 2006:16673358}" "" "" "" "France" "" "0" "" "" "white" "CL31010" "00420699" "" "" "" "1" "" "00006" "{PMID:Muller 2005:15888165}" "" "" "" "Germany" "" "0" "" "" "white" "" "00420700" "" "" "" "1" "" "00006" "{PMID:Huang 2006:16673358}" "" "" "" "Morocco" "" "0" "" "" "" "MOROCCO1010" "00420701" "" "" "" "1" "" "00006" "{PMID:Huang 2006:16673358}" "" "" "" "Morocco" "" "0" "" "" "" "" "00420702" "" "" "" "1" "" "00006" "{PMID:Huang 2006:16673358}" "" "" "" "Morocco" "" "0" "" "" "" "" "00420703" "" "" "" "1" "" "00006" "{PMID:Huang 2006:16673358}" "" "" "" "France" "" "0" "" "" "white" "AMIE15010" "00420704" "" "" "" "1" "" "00006" "{PMID:Huang 2006:16673358}" "" "" "" "Italy" "" "0" "" "" "" "GERMA1010" "00420705" "" "" "" "2" "" "00006" "{PMID:Huang 2006:16673358}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "" "" "Italy" "" "0" "" "" "white" "SIENA1010" "00420706" "" "" "00420705" "1" "" "00006" "{PMID:Huang 2006:16673358}" "sister" "" "" "Italy" "" "0" "" "" "white" "SIENA1020" "00420707" "" "" "" "1" "" "00006" "{PMID:Yokote 2017:27667302}" "" "" "" "Mexico" "" "0" "" "" "" "VA1010" "00420708" "" "" "" "1" "" "00006" "{PMID:Friedrich 2010:20443122}" "" "" "" "United States" "" "0" "" "" "white" "CWW91001" "00420709" "" "" "" "1" "" "00006" "{PMID:Friedrich 2010:20443122}" "" "" "" "United States" "" "0" "" "" "white" "JMP1010" "00420710" "" "" "" "1" "" "00006" "{PMID:Yokote 2017:27667302}" "" "" "" "Netherlands" "" "0" "" "" "" "UMCU1010" "00420711" "" "" "" "2" "" "00006" "{PMID:Huang 2006:16673358}" "2-generation family, 2 affected sisters, unaffected parents" "" "" "Taiwan" "" "0" "" "" "" "TAIWA1010" "00420712" "" "" "00420711" "1" "" "00006" "{PMID:Huang 2006:16673358}" "sister" "" "" "Taiwan" "" "0" "" "" "" "TAIWA1020" "00420713" "" "" "" "1" "" "00006" "{PMID:Yokote 2017:27667302}" "" "" "" "Japan" "" "0" "" "" "" "AG05229" "00420714" "" "" "" "1" "" "00006" "{PMID:Yokote 2017:27667302}" "" "" "" "Japan" "" "0" "" "" "" "AG12797" "00420715" "" "" "" "1" "" "00006" "{PMID:Friedrich 2010:20443122}" "" "" "" "Japan" "" "0" "" "" "" "AO1010" "00420716" "" "" "" "1" "" "00006" "{PMID:Yu 1997:9012406}" "" "" "" "Japan" "" "0" "" "" "" "FJ" "00420717" "" "" "" "1" "" "00006" "{PMID:Yu 1997:9012406}" "" "" "" "Japan" "" "0" "" "" "" "FUW" "00420718" "" "" "" "1" "" "00006" "{PMID:Yu 1997:9012406}" "" "" "" "Japan" "" "0" "" "" "" "HA" "00420719" "" "" "" "1" "" "00006" "{PMID:Yu 1997:9012406}" "" "" "" "Japan" "" "0" "" "" "" "HW" "00420720" "" "" "" "1" "" "00006" "{PMID:Friedrich 2010:20443122}" "" "" "" "Japan" "" "0" "" "" "" "HW90605" "00420721" "" "" "" "1" "" "00006" "{PMID:Yu 1997:9012406}" "" "" "" "Japan" "" "0" "" "" "" "IU" "00420722" "" "" "" "1" "" "00006" "{PMID:Yu 1997:9012406}" "" "" "" "Japan" "" "0" "" "" "" "JO1" "00420723" "" "" "" "1" "" "00006" "{PMID:Yu 1997:9012406}" "" "" "" "Japan" "" "0" "" "" "" "JO2" "00420724" "" "" "" "1" "" "00006" "{PMID:Yu 1997:9012406}" "" "" "" "Japan" "" "0" "" "" "" "KAKU" "00420725" "" "" "" "1" "" "00006" "{PMID:Yu 1997:9012406}" "" "" "" "Japan" "" "0" "" "" "" "KY" "00420726" "" "" "" "1" "" "00006" "{PMID:Yu 1997:9012406}" "" "" "" "Japan" "" "0" "" "" "" "MCI" "00420727" "" "" "" "1" "" "00006" "{PMID:Friedrich 2010:20443122}" "" "" "" "Japan" "" "0" "" "" "" "MCI7882" "00420728" "" "" "" "1" "" "00006" "{PMID:Yu 1997:9012406}" "" "" "" "Japan" "" "0" "" "" "" "MIE2" "00420729" "" "" "" "1" "" "00006" "{PMID:Friedrich 2010:20443122}" "" "" "" "Japan" "" "0" "" "" "" "MK1010" "00420730" "" "" "" "1" "" "00006" "{PMID:Yu 1997:9012406}" "" "" "" "Japan" "" "0" "" "" "" "SK" "00420731" "" "" "" "1" "" "00006" "{PMID:Yu 1997:9012406}" "" "" "" "Japan" "" "0" "" "" "" "ST" "00420732" "" "" "" "1" "" "00006" "{PMID:Yu 1997:9012406}" "" "" "" "Japan" "" "0" "" "" "" "TH" "00420733" "" "" "" "1" "" "00006" "{PMID:Yu 1997:9012406}" "" "" "" "Japan" "" "0" "" "" "" "TK" "00420734" "" "" "" "1" "" "00006" "{PMID:Yu 1997:9012406}" "" "" "" "Japan" "" "0" "" "" "" "TO" "00420735" "" "" "" "1" "" "00006" "{PMID:Yu 1997:9012406}" "" "" "" "Japan" "" "0" "" "" "" "ZM" "00420736" "" "" "" "1" "" "00006" "{PMID:Friedrich 2010:20443122}" "" "" "" "Japan" "" "0" "" "" "" "ZM90630" "00420737" "" "" "" "1" "" "00006" "{PMID:Huang 2006:16673358}" "" "" "" "Turkey" "" "0" "" "" "" "HUMB1010" "00420738" "" "" "" "1" "" "00006" "{PMID:Friedrich 2010:20443122}" "" "" "" "Turkey" "" "0" "" "" "" "IS1010" "00420739" "" "" "" "1" "" "00006" "{PMID:Friedrich 2010:20443122}" "" "" "" "Turkey" "" "0" "" "" "" "BUL1010" "00420740" "" "" "" "1" "" "00006" "{PMID:Oshima 1996:8968742}" "" "" "" "France" "" "0" "" "" "" "BLS" "00420741" "" "" "" "1" "" "00006" "{PMID:Friedrich 2010:20443122}" "" "" "" "Turkey" "" "0" "" "" "" "OS1010" "00420742" "" "" "" "1" "" "00006" "{PMID:Friedrich 2010:20443122}" "" "" "" "Turkey" "" "0" "" "" "" "OS1020" "00420743" "" "" "" "1" "" "00006" "{PMID:Yu 1996:8602509}, {PMID:Yu 1997:9012406}" "" "" "" "Japan" "" "0" "" "" "" "SY90575 yes" "00420744" "" "" "" "1" "" "00006" "{PMID:Oshima 1996:8968742}" "" "" "" "Turkey" "" "0" "" "" "" "TUR" "00420745" "" "" "" "1" "" "00006" "{PMID:Yokote 2017:27667302}" "" "" "" "Turkey" "" "0" "" "" "" "OTTO1010" "00420746" "" "" "" "1" "" "00006" "{PMID:Yokote 2017:27667302}" "" "" "yes" "Turkey" "" "0" "" "" "" "TY1010" "00420747" "" "" "" "1" "" "00006" "{PMID:Friedrich 2010:20443122}" "" "" "" "Austria" "" "0" "" "" "white" "AU40030" "00420748" "" "" "" "1" "" "00006" "{PMID:Friedrich 2010:20443122}" "" "" "" "Netherlands" "" "0" "" "" "" "ER1010" "00420749" "" "" "" "1" "" "00006" "{PMID:Yokote 2017:27667302}" "" "" "" "South Africa" "" "0" "" "" "" "AFRI1010" "00420750" "" "" "" "1" "" "00006" "{PMID:Yu 1996:8602509}, {PMID:Yu 1997:9012406}" "" "" "" "Syria" "" "0" "" "" "" "2-generation family, 3 affected sibs" "00420751" "" "" "" "1" "" "00006" "{PMID:Yu 1996:8602509}, {PMID:Yu 1997:9012406}" "" "" "" "Syria" "" "0" "" "" "" "sib" "00420752" "" "" "" "1" "" "00006" "{PMID:Yu 1996:8602509}, {PMID:Yu 1997:9012406}" "" "" "" "Syria" "" "0" "" "" "" "sib" "00420753" "" "" "" "1" "" "00006" "{PMID:Oshima 1996:8968742}" "" "" "" "Syria" "" "0" "" "" "" "SYR" "00420754" "" "" "" "1" "" "00006" "{PMID:Huang 2006:16673358}" "" "" "" "Germany" "" "0" "" "" "white" "" "00420755" "" "" "" "1" "" "00006" "{PMID:Vidal 1997:10206685}" "" "" "" "" "" "0" "" "" "" "" "00420756" "" "" "" "2" "" "00006" "{PMID:Meisslitzer 1997:9450180}" "2-generation family, 2 affected sibs" "" "" "Germany" "" "0" "" "" "" "" "00420757" "" "" "" "1" "" "00006" "{PMID:Uhrhammer 2006:16786514}" "" "" "" "France" "" "0" "" "" "" "1053-1" "00420758" "" "" "" "1" "" "00006" "{PMID:Uhrhammer 2006:16786514}" "" "" "yes" "France" "" "0" "" "" "" "1239-1" "00420759" "" "" "" "1" "" "00006" "{PMID:Uhrhammer 2006:16786514}" "" "" "" "France" "" "0" "" "" "" "1387-1" "00420760" "" "" "" "1" "" "00006" "{PMID:Uhrhammer 2006:16786514}" "" "" "" "France" "" "0" "" "" "" "1558-1" "00420761" "" "" "" "1" "" "00006" "{PMID:Uhrhammer 2006:16786514}" "" "" "" "France" "" "0" "" "" "" "1801-1" "00420762" "" "" "" "1" "" "00006" "{PMID:Uhrhammer 2006:16786514}" "" "" "" "France" "" "0" "" "" "" "284-18" "00420763" "" "" "" "1" "" "00006" "{PMID:Uhrhammer 2006:16786514}" "" "" "" "France" "" "0" "" "" "" "1052-1" "00420764" "" "" "" "1" "" "00006" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Japan" "" "0" "" "" "" "1701" "00420765" "" "" "" "1" "" "00006" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Japan" "" "0" "" "" "" "4701" "00420766" "" "" "" "1" "" "00006" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Japan" "" "0" "" "" "" "5901" "00420767" "" "" "" "1" "" "00006" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Japan" "" "0" "" "" "" "6201" "00420768" "" "" "" "1" "" "00006" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Japan" "" "0" "" "" "" "6901" "00420769" "" "" "" "1" "" "00006" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Japan" "" "0" "" "" "" "8001" "00420770" "" "" "" "1" "" "00006" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Japan" "" "0" "" "" "" "10201" "00420771" "" "" "" "1" "" "00006" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Japan" "" "0" "" "" "" "10501" "00420772" "" "" "" "1" "" "00006" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Japan" "" "0" "" "" "" "11001" "00420773" "" "" "" "1" "" "00006" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Japan" "" "0" "" "" "" "11501" "00420774" "" "" "" "1" "" "00006" "{PMID:Agrelo 2015:25830902}" "" "" "yes" "Argentina" "" "0" "" "" "" "Pat2" "00420775" "" "" "" "1" "" "00006" "{PMID:Castro 1999:10069711}" "" "" "" "" "" "0" "" "" "" "" "00420776" "" "" "" "1" "" "00006" "{PMID:Castro 1999:10069711}" "" "" "" "" "" "0" "" "" "" "HE" "00420777" "" "" "" "1" "" "00006" "{PMID:Castro 1999:10069711}" "" "" "" "" "" "0" "" "" "" "" "00420778" "" "" "" "1" "" "00006" "{PMID:Castro 1999:10069711}" "" "" "" "" "" "0" "" "" "" "" "00420779" "" "" "" "1" "" "00006" "{PMID:Castro 1999:10069711}" "" "" "" "" "" "0" "" "" "" "" "00420780" "" "" "" "1" "" "00006" "{PMID:Ye 1997:9021029}" "" "" "" "" "" "0" "" "" "" "" "00420781" "" "" "" "1" "" "00006" "{PMID:Castro 1999:10069711}" "" "" "" "" "" "0" "" "" "" "CP6" "00457364" "" "" "" "1" "" "04749" "Yuen (unpublished)" "" "M" "" "Singapore" "" "0" "" "" "China" "MINAS_11.0" "00457365" "" "" "" "1" "" "04749" "Yuen (unpublished)" "" "F" "" "Singapore" "" "0" "" "" "China" "MINAS_11.1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 269 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00248224" "00318" "00248268" "00318" "00294626" "00198" "00294627" "00198" "00299642" "04214" "00305196" "00198" "00406913" "05489" "00406914" "05489" "00406998" "05489" "00414522" "00318" "00414523" "00318" "00414524" "00318" "00414525" "00318" "00414526" "00318" "00419975" "02128" "00419976" "02128" "00419997" "02128" "00419998" "05093" "00419999" "05129" "00420040" "02128" "00420041" "02128" "00420042" "02128" "00420043" "02128" "00420044" "02128" "00420045" "02128" "00420047" "02128" "00420085" "02128" "00420086" "00198" "00420087" "02128" "00420088" "02128" "00420089" "02128" "00420090" "02128" "00420091" "02128" "00420092" "02128" "00420342" "02128" "00420343" "02128" "00420344" "02128" "00420345" "02128" "00420346" "02128" "00420347" "02128" "00420348" "02128" "00420349" "02128" "00420350" "02128" "00420351" "02128" "00420352" "02128" "00420353" "02128" "00420354" "02128" "00420355" "02128" "00420356" "02128" "00420357" "02128" "00420358" "02128" "00420359" "02128" "00420360" "02128" "00420361" "02128" "00420362" "02128" "00420363" "02128" "00420364" "02128" "00420365" "02128" "00420366" "02128" "00420367" "02128" "00420369" "02128" "00420370" "02128" "00420371" "02128" "00420372" "02128" "00420373" "02128" "00420374" "02128" "00420375" "02128" "00420376" "02128" "00420377" "02128" "00420378" "02128" "00420379" "02128" "00420380" "02128" "00420381" "02128" "00420382" "02128" "00420383" "02128" "00420384" "02128" "00420385" "02128" "00420386" "02128" "00420387" "02128" "00420388" "02128" "00420597" "02128" "00420598" "02128" "00420599" "02128" "00420600" "02128" "00420601" "02128" "00420602" "02128" "00420603" "02128" "00420604" "02128" "00420605" "02128" "00420606" "02128" "00420607" "02128" "00420608" "02128" "00420609" "02128" "00420610" "02128" "00420611" "02128" "00420612" "02128" "00420613" "02128" "00420614" "02128" "00420615" "02128" "00420616" "02128" "00420617" "02128" "00420618" "02128" "00420619" "02128" "00420620" "02128" "00420621" "02128" "00420622" "02128" "00420623" "02128" "00420624" "02128" "00420625" "02128" "00420626" "02128" "00420627" "02128" "00420628" "02128" "00420629" "02128" "00420630" "02128" "00420631" "02128" "00420632" "02128" "00420633" "02128" "00420634" "02128" "00420635" "02128" "00420636" "02128" "00420637" "02128" "00420638" "02128" "00420639" "02128" "00420640" "02128" "00420641" "02128" "00420642" "02128" "00420643" "02128" "00420644" "02128" "00420645" "02128" "00420646" "02128" "00420647" "02128" "00420648" "02128" "00420649" "02128" "00420650" "02128" "00420651" "02128" "00420652" "02128" "00420653" "02128" "00420654" "02128" "00420655" "02128" "00420656" "02128" "00420657" "02128" "00420658" "02128" "00420659" "02128" "00420660" "02128" "00420661" "02128" "00420662" "02128" "00420663" "02128" "00420664" "02128" "00420665" "02128" "00420666" "02128" "00420667" "02128" "00420668" "02128" "00420669" "02128" "00420670" "02128" "00420671" "02128" "00420672" "02128" "00420673" "02128" "00420674" "02128" "00420675" "02128" "00420676" "02128" "00420677" "02128" "00420678" "02128" "00420679" "02128" "00420680" "02128" "00420681" "02128" "00420682" "02128" "00420683" "02128" "00420684" "02128" "00420685" "02128" "00420686" "02128" "00420687" "02128" "00420688" "02128" "00420689" "02128" "00420690" "02128" "00420691" "02128" "00420692" "02128" "00420693" "02128" "00420694" "02128" "00420695" "02128" "00420696" "02128" "00420697" "02128" "00420698" "02128" "00420699" "02128" "00420700" "02128" "00420701" "02128" "00420702" "02128" "00420703" "02128" "00420704" "02128" "00420705" "02128" "00420706" "02128" "00420707" "02128" "00420708" "02128" "00420709" "02128" "00420710" "02128" "00420711" "02128" "00420712" "02128" "00420713" "02128" "00420714" "02128" "00420715" "02128" "00420716" "02128" "00420717" "02128" "00420718" "02128" "00420719" "02128" "00420720" "02128" "00420721" "02128" "00420722" "02128" "00420723" "02128" "00420724" "02128" "00420725" "02128" "00420726" "02128" "00420727" "02128" "00420728" "02128" "00420729" "02128" "00420730" "02128" "00420731" "02128" "00420732" "02128" "00420733" "02128" "00420734" "02128" "00420735" "02128" "00420736" "02128" "00420737" "02128" "00420738" "02128" "00420739" "02128" "00420740" "02128" "00420741" "02128" "00420742" "02128" "00420743" "02128" "00420744" "02128" "00420745" "02128" "00420746" "02128" "00420747" "02128" "00420748" "02128" "00420749" "02128" "00420750" "02128" "00420751" "02128" "00420752" "02128" "00420753" "02128" "00420754" "02128" "00420755" "02128" "00420756" "02128" "00420757" "02128" "00420758" "02128" "00420759" "02128" "00420760" "02128" "00420761" "02128" "00420762" "02128" "00420763" "02128" "00420764" "02128" "00420765" "02128" "00420766" "02128" "00420767" "02128" "00420768" "02128" "00420769" "02128" "00420770" "02128" "00420771" "02128" "00420772" "02128" "00420773" "02128" "00420774" "02128" "00420775" "02128" "00420776" "02128" "00420777" "02128" "00420778" "02128" "00420779" "02128" "00420780" "00198" "00420781" "02128" "00457364" "04296" "00457365" "04296" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00318, 01157, 02128, 04214, 04296, 05093, 05129, 05489 ## Count = 235 "{{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/Cancer/Sub_type}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "" "0000187233" "00318" "00248224" "01474" "Unknown" "" "31y ductal breast cancer, subtype HER-2" "31y" "" "" "" "" "" "" "" "" "" "breast cancer" "" "0000187277" "00318" "00248268" "01474" "Unknown" "" "26y ductal breast cancer, subtype basal" "26y" "" "" "" "" "" "" "" "" "" "breast cancer" "" "0000226952" "04214" "00299642" "00006" "Familial, autosomal recessive" "38y" "see paper; ..., 30y-photopsia (HP:0030786), nyctalopia (HP:0000662), field defect; irregular pigmented lesions in periphery (HP:0007703), foveal/parafoveal cysts (HP:?); 30y-PERG borderline on R, subnormal on L, undetectable rod ERG, abnormal cone ERG, severe rod>cone dysfunction; 33y-colour vision Ishihara R 21/23 L 3/23; 36y-fields to confrontation less than 30 degrees; presenting VA logMAR (Snellen) R 0.18 (20/30), L 0.48 (20/60); latest VA logMAR R 0.18 (20/30), L 0.8 (20/125); latest refractive error, dioptres R +2.25/-1.00x5, L +2.00/-1.50x165" "30y" "" "" "" "" "" "" "" "" "RP78" "retinitis pigmentosa" "" "0000299362" "05489" "00406913" "00006" "Unknown" "65y" "colon cancer (sigmoid), stage II); mismatch repair status proficient; no family history" "" "" "" "" "" "" "" "" "" "" "colorectal cancer" "" "0000299363" "05489" "00406914" "00006" "Unknown" "62y" "colon cancer (sigmoid), stage II); mismatch repair status proficient; no family history" "" "" "" "" "" "" "" "" "" "" "colorectal cancer" "" "0000306334" "00318" "00414522" "00103" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000311241" "02128" "00419975" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311242" "02128" "00419976" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311243" "02128" "00419997" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311244" "05093" "00419998" "00006" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "cancer" "" "0000311245" "05129" "00419999" "00006" "Familial, autosomal recessive" "28y" "see paper; ..., aged appearance, prematurely gray hair, scleroderma-like skin, spastic paraplegia, apparent disability" "" "" "" "" "" "" "" "" "" "AGS5" "Aicardi-Goutieres syndrome" "" "0000311246" "02128" "00420040" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311251" "02128" "00420041" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311256" "02128" "00420042" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311279" "02128" "00420043" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311280" "02128" "00420044" "00006" "Familial, autosomal recessive" "68y" "see paper; ..., unilateral cataract; no skin anomalies; no facial features; no short stature; greying or loss of hair; diabetes mellitus; soft tissue calcification; neoplasms; voice change; flat feet" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311281" "02128" "00420045" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311284" "02128" "00420047" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311320" "02128" "00420085" "00006" "Familial, autosomal recessive" "42y" "see paper; ...; cataracts; skin anomalies; facial features; no short stature; greying or loss of hair; no diabetes mellitus; hypogonadism; osteoporosis; no osteosclerosis; no soft tissue calcification; no atherosclerosis; no neoplasms; voice change; no flat fee" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311321" "00198" "00420086" "00006" "Familial, autosomal recessive" "42y" "see paper; ..., 10\'s Addison disease; 20\'s hypothyroidism and type 2 diabetes mellitus; 30\'s bilateral cataracts (surgery); skin anomalies; facial features; short stature; greying or loss of hair; diabetes mellitus; osteoporosis; no soft tissue calcification; voice change; no flat fee" "" "" "" "" "" "" "" "" "" "WRN" "" "" "0000311322" "02128" "00420087" "00006" "Familial, autosomal recessive" "45y" "see paper; ..., cataracts; skin anomalies; facial features; short stature; greying or loss of hair; diabetes mellitus; hypogonadism; osteoporosis; osteosclerosis; soft tissue calcification; atherosclerosis; neoplasms; voice change; flat feet" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311324" "02128" "00420088" "00006" "Familial, autosomal recessive" "38y" "see paper; ..., cataracts; skin anomalies; facial features; short stature; greying or loss of hair; diabetes mellitus; hypogonadism; osteoporosis; soft tissue calcification; voice change; flat feet" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311325" "02128" "00420089" "00006" "Familial, autosomal recessive" "<50y" "see paper; ..., cataracts; skin anomalies; facial features; short stature; greying or loss of hair; diabetes mellitus; soft tissue calcification; atherosclerosis; no neoplasms; voice change; flat feet" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311326" "02128" "00420090" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311327" "02128" "00420091" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311328" "02128" "00420092" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311610" "02128" "00420342" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311611" "02128" "00420343" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311612" "02128" "00420344" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311613" "02128" "00420345" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311614" "02128" "00420346" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311615" "02128" "00420347" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311616" "02128" "00420348" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311617" "02128" "00420349" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311618" "02128" "00420350" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311619" "02128" "00420351" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311620" "02128" "00420352" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311621" "02128" "00420353" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311622" "02128" "00420354" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311623" "02128" "00420355" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311624" "02128" "00420356" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311625" "02128" "00420357" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311626" "02128" "00420358" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311627" "02128" "00420359" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311628" "02128" "00420360" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311629" "02128" "00420361" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311630" "02128" "00420362" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311631" "02128" "00420363" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311632" "02128" "00420364" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311633" "02128" "00420365" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311634" "02128" "00420366" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311635" "02128" "00420367" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311845" "02128" "00420597" "00006" "Familial, autosomal recessive" "" "bird-like face, a high-pitched voice, baldness, leg ulcers" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311846" "02128" "00420598" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311847" "02128" "00420599" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311848" "02128" "00420600" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311849" "02128" "00420601" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311850" "02128" "00420602" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311851" "02128" "00420603" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311852" "02128" "00420604" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311853" "02128" "00420605" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311854" "02128" "00420606" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311855" "02128" "00420607" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311856" "02128" "00420608" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311857" "02128" "00420609" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311858" "02128" "00420610" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311859" "02128" "00420611" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311860" "02128" "00420612" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311861" "02128" "00420613" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311862" "02128" "00420614" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311863" "02128" "00420615" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311864" "02128" "00420616" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311865" "02128" "00420617" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311866" "02128" "00420618" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311867" "02128" "00420619" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311868" "02128" "00420620" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311869" "02128" "00420621" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311870" "02128" "00420622" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311871" "02128" "00420623" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311872" "02128" "00420624" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311873" "02128" "00420625" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311874" "02128" "00420626" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311875" "02128" "00420627" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311876" "02128" "00420628" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311877" "02128" "00420629" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311878" "02128" "00420630" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311879" "02128" "00420631" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311880" "02128" "00420632" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311881" "02128" "00420633" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311882" "02128" "00420634" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311883" "02128" "00420635" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311884" "02128" "00420636" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311885" "02128" "00420637" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311886" "02128" "00420638" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311887" "02128" "00420639" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311888" "02128" "00420640" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311889" "02128" "00420641" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311890" "02128" "00420642" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311891" "02128" "00420643" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311892" "02128" "00420644" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311893" "02128" "00420645" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311894" "02128" "00420646" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311895" "02128" "00420647" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311896" "02128" "00420648" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311897" "02128" "00420649" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311898" "02128" "00420650" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311899" "02128" "00420651" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311900" "02128" "00420652" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311901" "02128" "00420653" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311902" "02128" "00420654" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311903" "02128" "00420655" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311904" "02128" "00420656" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311905" "02128" "00420657" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311906" "02128" "00420658" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311907" "02128" "00420659" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311908" "02128" "00420660" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311909" "02128" "00420661" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311910" "02128" "00420662" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311911" "02128" "00420663" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311912" "02128" "00420664" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311913" "02128" "00420665" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311914" "02128" "00420666" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311915" "02128" "00420667" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311916" "02128" "00420668" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311917" "02128" "00420669" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311918" "02128" "00420670" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311919" "02128" "00420671" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311920" "02128" "00420672" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311921" "02128" "00420673" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311922" "02128" "00420674" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311923" "02128" "00420675" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311924" "02128" "00420676" "00006" "Familial, autosomal recessive" "" "bird-like face, a high-pitched voice, baldness, leg ulcers" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311925" "02128" "00420677" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311926" "02128" "00420678" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311927" "02128" "00420679" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311928" "02128" "00420680" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311929" "02128" "00420681" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311930" "02128" "00420682" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311931" "02128" "00420683" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311932" "02128" "00420684" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311933" "02128" "00420685" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311934" "02128" "00420686" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311935" "02128" "00420687" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311936" "02128" "00420688" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311937" "02128" "00420689" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311938" "02128" "00420690" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311939" "02128" "00420691" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311940" "02128" "00420692" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311941" "02128" "00420693" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311942" "02128" "00420694" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311943" "02128" "00420695" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311944" "02128" "00420696" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311945" "02128" "00420697" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311946" "02128" "00420698" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311947" "02128" "00420699" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311948" "02128" "00420700" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311949" "02128" "00420701" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311950" "02128" "00420702" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311951" "02128" "00420703" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311952" "02128" "00420704" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311953" "02128" "00420705" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311954" "02128" "00420706" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311955" "02128" "00420707" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311956" "02128" "00420708" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311957" "02128" "00420709" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311958" "02128" "00420710" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311959" "02128" "00420711" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311960" "02128" "00420712" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311961" "02128" "00420713" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311962" "02128" "00420714" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311963" "02128" "00420715" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311964" "02128" "00420716" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311965" "02128" "00420717" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311966" "02128" "00420718" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311967" "02128" "00420719" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311968" "02128" "00420720" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311969" "02128" "00420721" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311970" "02128" "00420722" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311971" "02128" "00420723" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311972" "02128" "00420724" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311973" "02128" "00420725" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311974" "02128" "00420726" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311975" "02128" "00420727" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311976" "02128" "00420728" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311977" "02128" "00420729" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311978" "02128" "00420730" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311979" "02128" "00420731" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311980" "02128" "00420732" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311981" "02128" "00420733" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311982" "02128" "00420734" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311983" "02128" "00420735" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311984" "02128" "00420736" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311985" "02128" "00420737" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311986" "02128" "00420738" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311987" "02128" "00420739" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311988" "02128" "00420740" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311989" "02128" "00420741" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311990" "02128" "00420742" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311991" "02128" "00420743" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311992" "02128" "00420744" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311993" "02128" "00420745" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311994" "02128" "00420746" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311995" "02128" "00420747" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311996" "02128" "00420748" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311997" "02128" "00420749" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311998" "02128" "00420750" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000311999" "02128" "00420751" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000312000" "02128" "00420752" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000312001" "02128" "00420753" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000312002" "02128" "00420754" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000312003" "02128" "00420755" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000312004" "02128" "00420756" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000312005" "02128" "00420757" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000312006" "02128" "00420758" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000312007" "02128" "00420759" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000312008" "02128" "00420760" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000312009" "02128" "00420761" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000312010" "02128" "00420762" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000312011" "02128" "00420763" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000312012" "02128" "00420764" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000312013" "02128" "00420765" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000312014" "02128" "00420766" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000312015" "02128" "00420767" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000312016" "02128" "00420768" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000312017" "02128" "00420769" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000312018" "02128" "00420770" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000312019" "02128" "00420771" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000312020" "02128" "00420772" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000312021" "02128" "00420773" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000312022" "02128" "00420774" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "WRN" "Werner syndrome" "" "0000312026" "00198" "00420780" "00006" "Unknown" "" "myocardial infarction" "" "" "" "" "" "" "" "" "" "" "myocardial infarction" "" "0000345826" "04296" "00457364" "04749" "Unknown" "" "Multiple adenomatous & hyperplastic polyps 43y; Tongue papilloma 53y; Thyroid nodule 41y; Back lipoma 41y; Macocephaly; keratosis; trichilemmomas; short stature, flat nasal bridge, severe teeth cavies (he lost all his teeth in his 30-40s); small chin/jaw (Micrognathia)" "" "" "" "" "" "" "" "" "" "" "MINAS" "" "0000345827" "04296" "00457365" "04749" "Unknown" "" "Synchronous TNBC and HER2+ breast cancer primaries 30y" "" "" "" "" "" "" "" "" "" "" "MINAS" "" ## Screenings ## Do not remove or alter this header ## ## Count = 269 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000249329" "00248224" "1" "01474" "00006" "2015-12-04 13:41:45" "" "" "SEQ-NG-S" "DNA" "blood" "581 gene panel" "0000249373" "00248268" "1" "01474" "00006" "2015-12-04 13:41:45" "" "" "SEQ-NG-S" "DNA" "blood" "581 gene panel" "0000295794" "00294626" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295795" "00294627" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000300752" "00299642" "1" "00006" "00006" "2020-04-18 08:53:03" "00006" "2020-04-18 09:16:30" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000306325" "00305196" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000408159" "00406913" "1" "00006" "00006" "2022-04-05 15:38:44" "" "" "SEQ-NG" "DNA" "" "81-gene panel" "0000408160" "00406914" "1" "00006" "00006" "2022-04-05 15:38:44" "" "" "SEQ-NG" "DNA" "" "81-gene panel" "0000408244" "00406998" "1" "00006" "00006" "2022-04-05 15:38:44" "" "" "SEQ-NG" "DNA" "" "81-gene panel" "0000415803" "00414522" "1" "00103" "00103" "2022-07-28 16:53:49" "" "" "SEQ-NG-I" "DNA" "" "" "0000415804" "00414523" "1" "00103" "00103" "2022-07-28 17:00:46" "" "" "SEQ-NG-I" "DNA" "" "" "0000415805" "00414524" "1" "00103" "00103" "2022-07-28 17:04:23" "" "" "SEQ-NG-I" "DNA" "" "" "0000415806" "00414525" "1" "00103" "00103" "2022-07-28 17:09:07" "" "" "SEQ-ON" "DNA" "" "" "0000415807" "00414526" "1" "00103" "00103" "2022-07-28 17:13:32" "" "" "SEQ-NG-I" "DNA" "" "" "0000421280" "00419975" "1" "00006" "00006" "2022-10-29 08:24:48" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000421281" "00419976" "1" "00006" "00006" "2022-10-29 08:24:48" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000421303" "00419997" "1" "00006" "00006" "2022-10-30 09:42:11" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000421304" "00419998" "1" "00006" "00006" "2022-10-30 10:00:17" "" "" "SEQ;SEQ-NG" "DNA" "" "cancer gene panel" "0000421305" "00419999" "1" "00006" "00006" "2022-10-30 10:11:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421338" "00420040" "1" "00006" "00006" "2022-10-30 15:41:25" "" "" "arrayCGH;PCR;SEQ" "DNA" "" "" "0000421344" "00420041" "1" "00006" "00006" "2022-10-30 15:59:57" "" "" "arrayCGH" "DNA;RNA" "" "" "0000421350" "00420042" "1" "00006" "00006" "2022-10-30 16:18:38" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000421351" "00420043" "1" "00006" "00006" "2022-10-30 16:41:29" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000421352" "00420044" "1" "00006" "00006" "2022-10-30 16:51:43" "00006" "2022-10-31 09:41:55" "RT-PCR;SEQ;SEQ-ON" "DNA;RNA" "" "targeted , long-read" "0000421353" "00420045" "1" "00006" "00006" "2022-10-30 17:04:07" "00006" "2022-10-30 17:06:10" "SEQ" "DNA" "" "" "0000421355" "00420047" "1" "00006" "00006" "2022-10-30 17:11:21" "" "" "SEQ" "DNA" "" "" "0000421360" "00420085" "1" "00006" "00006" "2022-10-31 08:51:05" "00006" "2022-10-31 08:57:23" "RT-PCR;SEQ" "DNA;RNA" "" "WGS, targeted long-read" "0000421361" "00420086" "1" "00006" "00006" "2022-10-31 09:02:49" "" "" "RT-PCR;SEQ;SEQ-ON" "DNA;RNA" "" "WES, targeted long-read" "0000421362" "00420087" "1" "00006" "00006" "2022-10-31 09:14:39" "00006" "2022-10-31 09:19:03" "RT-PCR;SEQ;SEQ-ON" "DNA;RNA" "" "targeted long-read" "0000421363" "00420088" "1" "00006" "00006" "2022-10-31 09:14:39" "00006" "2022-10-31 09:19:03" "RT-PCR;SEQ;SEQ-ON" "DNA;RNA" "" "targeted long-read" "0000421364" "00420089" "1" "00006" "00006" "2022-10-31 09:28:34" "00006" "2022-10-31 09:32:28" "SEQ;SEQ-ON" "DNA" "" "targeted long-read" "0000421365" "00420090" "1" "00006" "00006" "2022-10-31 09:28:34" "" "" "SEQ-ON" "DNA;RNA" "" "targeted long-read" "0000421366" "00420091" "1" "00006" "00006" "2022-10-31 09:51:39" "00006" "2022-10-31 09:54:59" "RT-PCR;SEQ;SEQ-ON" "DNA" "" "targeted long-read" "0000421367" "00420092" "1" "00006" "00006" "2022-10-31 09:57:47" "" "" "RT-PCR;SEQ;SEQ-ON" "DNA;RNA" "" "targeted long-read" "0000421651" "00420342" "1" "00006" "00006" "2022-11-01 21:18:59" "" "" "SEQ" "DNA" "" "" "0000421652" "00420343" "1" "00006" "00006" "2022-11-01 21:18:59" "" "" "SEQ" "DNA" "" "" "0000421653" "00420344" "1" "00006" "00006" "2022-11-01 21:18:59" "" "" "SEQ" "DNA" "" "" "0000421654" "00420345" "1" "00006" "00006" "2022-11-01 21:18:59" "" "" "SEQ" "DNA" "" "" "0000421655" "00420346" "1" "00006" "00006" "2022-11-01 21:18:59" "" "" "SEQ" "DNA" "" "" "0000421656" "00420347" "1" "00006" "00006" "2022-11-01 21:18:59" "" "" "SEQ" "DNA" "" "" "0000421657" "00420348" "1" "00006" "00006" "2022-11-01 21:18:59" "" "" "SEQ" "DNA" "" "" "0000421658" "00420349" "1" "00006" "00006" "2022-11-01 21:18:59" "" "" "SEQ" "DNA" "" "" "0000421659" "00420350" "1" "00006" "00006" "2022-11-01 21:18:59" "" "" "SEQ" "DNA" "" "" "0000421660" "00420351" "1" "00006" "00006" "2022-11-01 21:18:59" "" "" "SEQ" "DNA" "" "" "0000421661" "00420352" "1" "00006" "00006" "2022-11-01 21:18:59" "" "" "SEQ" "DNA" "" "" "0000421662" "00420353" "1" "00006" "00006" "2022-11-01 21:18:59" "" "" "SEQ" "DNA" "" "" "0000421663" "00420354" "1" "00006" "00006" "2022-11-01 21:18:59" "" "" "SEQ" "DNA" "" "" "0000421664" "00420355" "1" "00006" "00006" "2022-11-01 21:18:59" "" "" "SEQ" "DNA" "" "" "0000421665" "00420356" "1" "00006" "00006" "2022-11-01 21:18:59" "" "" "SEQ" "DNA" "" "" "0000421666" "00420357" "1" "00006" "00006" "2022-11-01 21:18:59" "" "" "SEQ" "DNA" "" "" "0000421667" "00420358" "1" "00006" "00006" "2022-11-01 21:18:59" "" "" "SEQ" "DNA" "" "" "0000421668" "00420359" "1" "00006" "00006" "2022-11-01 21:18:59" "" "" "SEQ" "DNA" "" "" "0000421669" "00420360" "1" "00006" "00006" "2022-11-01 21:18:59" "" "" "SEQ" "DNA" "" "" "0000421670" "00420361" "1" "00006" "00006" "2022-11-01 21:18:59" "" "" "SEQ" "DNA" "" "" "0000421671" "00420362" "1" "00006" "00006" "2022-11-01 21:18:59" "" "" "SEQ" "DNA" "" "" "0000421672" "00420363" "1" "00006" "00006" "2022-11-01 21:18:59" "" "" "SEQ" "DNA" "" "" "0000421673" "00420364" "1" "00006" "00006" "2022-11-01 21:18:59" "" "" "SEQ" "DNA" "" "" "0000421674" "00420365" "1" "00006" "00006" "2022-11-01 21:18:59" "" "" "SEQ" "DNA" "" "" "0000421675" "00420366" "1" "00006" "00006" "2022-11-01 21:18:59" "" "" "SEQ" "DNA" "" "" "0000421676" "00420367" "1" "00006" "00006" "2022-11-01 21:18:59" "" "" "SEQ" "DNA" "" "" "0000421678" "00420369" "1" "00006" "00006" "2022-11-02 10:26:31" "" "" "SEQ" "DNA" "" "" "0000421679" "00420370" "1" "00006" "00006" "2022-11-02 10:26:31" "" "" "SEQ" "DNA" "" "" "0000421680" "00420371" "1" "00006" "00006" "2022-11-02 10:26:31" "" "" "SEQ" "DNA" "" "" "0000421681" "00420372" "1" "00006" "00006" "2022-11-02 10:26:31" "" "" "SEQ" "DNA" "" "" "0000421682" "00420373" "1" "00006" "00006" "2022-11-02 10:26:31" "" "" "SEQ" "DNA" "" "" "0000421683" "00420374" "1" "00006" "00006" "2022-11-02 10:26:31" "" "" "SEQ" "DNA" "" "" "0000421684" "00420375" "1" "00006" "00006" "2022-11-02 10:26:31" "" "" "SEQ" "DNA" "" "" "0000421685" "00420376" "1" "00006" "00006" "2022-11-02 10:26:31" "" "" "SEQ" "DNA" "" "" "0000421686" "00420377" "1" "00006" "00006" "2022-11-02 10:26:31" "" "" "SEQ" "DNA" "" "" "0000421687" "00420378" "1" "00006" "00006" "2022-11-02 10:26:31" "" "" "SEQ" "DNA" "" "" "0000421688" "00420379" "1" "00006" "00006" "2022-11-02 10:26:31" "" "" "SEQ" "DNA" "" "" "0000421689" "00420380" "1" "00006" "00006" "2022-11-02 10:26:31" "" "" "SEQ" "DNA" "" "" "0000421690" "00420381" "1" "00006" "00006" "2022-11-02 10:26:31" "" "" "SEQ" "DNA" "" "" "0000421691" "00420382" "1" "00006" "00006" "2022-11-02 10:26:31" "" "" "SEQ" "DNA" "" "" "0000421692" "00420383" "1" "00006" "00006" "2022-11-02 10:26:31" "" "" "SEQ" "DNA" "" "" "0000421693" "00420384" "1" "00006" "00006" "2022-11-02 10:26:31" "" "" "SEQ" "DNA" "" "" "0000421694" "00420385" "1" "00006" "00006" "2022-11-02 10:26:31" "" "" "SEQ" "DNA" "" "" "0000421695" "00420386" "1" "00006" "00006" "2022-11-02 10:26:31" "" "" "SEQ" "DNA" "" "" "0000421696" "00420387" "1" "00006" "00006" "2022-11-02 10:26:31" "" "" "SEQ" "DNA" "" "" "0000421697" "00420388" "1" "00006" "00006" "2022-11-02 10:26:31" "" "" "SEQ" "DNA" "" "" "0000421906" "00420597" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000421907" "00420598" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000421908" "00420599" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000421909" "00420600" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000421910" "00420601" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "LCL" "" "0000421911" "00420602" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "LCL" "" "0000421912" "00420603" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "LCL" "" "0000421913" "00420604" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000421914" "00420605" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000421915" "00420606" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "fibroblasts" "" "0000421916" "00420607" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "fibroblasts" "" "0000421917" "00420608" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL, fibroblasts" "" "0000421918" "00420609" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000421919" "00420610" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000421920" "00420611" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000421921" "00420612" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000421922" "00420613" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000421923" "00420614" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000421924" "00420615" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000421925" "00420616" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000421926" "00420617" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000421927" "00420618" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000421928" "00420619" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000421929" "00420620" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000421930" "00420621" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000421931" "00420622" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000421932" "00420623" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000421933" "00420624" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000421934" "00420625" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000421935" "00420626" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000421936" "00420627" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000421937" "00420628" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000421938" "00420629" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000421939" "00420630" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000421940" "00420631" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000421941" "00420632" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000421942" "00420633" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000421943" "00420634" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000421944" "00420635" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000421945" "00420636" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000421946" "00420637" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000421947" "00420638" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000421948" "00420639" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000421949" "00420640" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "fibroblasts" "" "0000421950" "00420641" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000421951" "00420642" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000421952" "00420643" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000421953" "00420644" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000421954" "00420645" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000421955" "00420646" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "LCL" "" "0000421956" "00420647" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "LCL" "" "0000421957" "00420648" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000421958" "00420649" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000421959" "00420650" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "fibroblasts" "" "0000421960" "00420651" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "LCL" "" "0000421961" "00420652" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "LCL" "" "0000421962" "00420653" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000421963" "00420654" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000421964" "00420655" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000421965" "00420656" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000421966" "00420657" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000421967" "00420658" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000421968" "00420659" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000421969" "00420660" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000421970" "00420661" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "LCL" "" "0000421971" "00420662" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000421972" "00420663" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000421973" "00420664" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000421974" "00420665" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "LCL" "" "0000421975" "00420666" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000421976" "00420667" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000421977" "00420668" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "LCL" "" "0000421978" "00420669" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "LCL" "" "0000421979" "00420670" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "LCL" "" "0000421980" "00420671" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000421981" "00420672" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000421982" "00420673" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "LCL" "" "0000421983" "00420674" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000421984" "00420675" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000421985" "00420676" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000421986" "00420677" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000421987" "00420678" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000421988" "00420679" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000421989" "00420680" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000421990" "00420681" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000421991" "00420682" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000421992" "00420683" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000421993" "00420684" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000421994" "00420685" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000421995" "00420686" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000421996" "00420687" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000421997" "00420688" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000421998" "00420689" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000421999" "00420690" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000422000" "00420691" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000422001" "00420692" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000422002" "00420693" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000422003" "00420694" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000422004" "00420695" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000422005" "00420696" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000422006" "00420697" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "LCL" "" "0000422007" "00420698" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000422008" "00420699" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000422009" "00420700" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000422010" "00420701" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000422011" "00420702" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000422012" "00420703" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL, fibroblasts" "" "0000422013" "00420704" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000422014" "00420705" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000422015" "00420706" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000422016" "00420707" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000422017" "00420708" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000422018" "00420709" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000422019" "00420710" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000422020" "00420711" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000422021" "00420712" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000422022" "00420713" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "fibroblasts" "" "0000422023" "00420714" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "fibroblasts" "" "0000422024" "00420715" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "fibroblasts" "" "0000422025" "00420716" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "LCL" "" "0000422026" "00420717" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000422027" "00420718" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "LCL" "" "0000422028" "00420719" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000422029" "00420720" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "LCL" "" "0000422030" "00420721" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "LCL" "" "0000422031" "00420722" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "LCL" "" "0000422032" "00420723" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "LCL" "" "0000422033" "00420724" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000422034" "00420725" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "LCL" "" "0000422035" "00420726" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "fibroblasts" "" "0000422036" "00420727" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "fibroblasts" "" "0000422037" "00420728" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "LCL" "" "0000422038" "00420729" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "LCL" "" "0000422039" "00420730" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "LCL" "" "0000422040" "00420731" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "LCL" "" "0000422041" "00420732" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "LCL" "" "0000422042" "00420733" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "LCL" "" "0000422043" "00420734" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "LCL" "" "0000422044" "00420735" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "LCL" "" "0000422045" "00420736" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "LCL" "" "0000422046" "00420737" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000422047" "00420738" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "LCL" "" "0000422048" "00420739" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "LCL" "" "0000422049" "00420740" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000422050" "00420741" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000422051" "00420742" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000422052" "00420743" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000422053" "00420744" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000422054" "00420745" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000422055" "00420746" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000422056" "00420747" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "LCL" "" "0000422057" "00420748" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000422058" "00420749" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL, fibroblasts" "" "0000422059" "00420750" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000422060" "00420751" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000422061" "00420752" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000422062" "00420753" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "LCL" "" "0000422063" "00420754" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000422064" "00420755" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000422065" "00420756" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000422066" "00420757" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000422067" "00420758" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000422068" "00420759" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000422069" "00420760" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000422070" "00420761" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000422071" "00420762" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000422072" "00420763" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000422073" "00420764" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000422074" "00420765" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000422075" "00420766" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000422076" "00420767" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000422077" "00420768" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000422078" "00420769" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000422079" "00420770" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000422080" "00420771" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000422081" "00420772" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000422082" "00420773" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000422083" "00420774" "1" "00006" "00006" "2022-11-02 13:16:30" "" "" "SEQ" "DNA" "" "" "0000422084" "00420775" "1" "00006" "00006" "2022-11-02 13:26:42" "" "" "SEQ" "DNA" "" "" "0000422085" "00420776" "1" "00006" "00006" "2022-11-02 13:29:11" "" "" "SEQ" "DNA" "" "" "0000422086" "00420777" "1" "00006" "00006" "2022-11-02 13:31:19" "" "" "SEQ" "DNA" "" "" "0000422087" "00420778" "1" "00006" "00006" "2022-11-02 13:34:28" "" "" "SEQ" "DNA" "" "" "0000422088" "00420779" "1" "00006" "00006" "2022-11-02 13:36:36" "" "" "SEQ" "DNA" "" "" "0000422089" "00420780" "1" "00006" "00006" "2022-11-02 13:40:46" "" "" "SEQ" "DNA" "" "" "0000422090" "00420781" "1" "00006" "00006" "2022-11-02 13:44:16" "" "" "SEQ" "DNA" "" "" "0000458984" "00457364" "1" "04749" "00006" "2024-10-10 14:37:00" "" "" "SEQ-NG" "DNA" "" "" "0000458985" "00457365" "1" "04749" "00006" "2024-10-10 14:37:00" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 254 "{{screeningid}}" "{{geneid}}" "0000300752" "ARHGEF18" "0000415803" "WRN" "0000415804" "WRN" "0000415805" "WRN" "0000415806" "WRN" "0000415807" "WRN" "0000421280" "WRN" "0000421281" "WRN" "0000421303" "WRN" "0000421305" "WRN" "0000421338" "WRN" "0000421344" "WRN" "0000421350" "WRN" "0000421351" "WRN" "0000421352" "WRN" "0000421353" "WRN" "0000421355" "WRN" "0000421362" "WRN" "0000421363" "WRN" "0000421364" "WRN" "0000421365" "WRN" "0000421366" "WRN" "0000421367" "WRN" "0000421651" "WRN" "0000421652" "WRN" "0000421653" "WRN" "0000421654" "WRN" "0000421655" "WRN" "0000421656" "WRN" "0000421657" "WRN" "0000421658" "WRN" "0000421659" "WRN" "0000421660" "WRN" "0000421661" "WRN" "0000421662" "WRN" "0000421663" "WRN" "0000421664" "WRN" "0000421665" "WRN" "0000421666" "WRN" "0000421667" "WRN" "0000421668" "WRN" "0000421669" "WRN" "0000421670" "WRN" "0000421671" "WRN" "0000421672" "WRN" "0000421673" "WRN" "0000421674" "WRN" "0000421675" "WRN" "0000421676" "WRN" "0000421678" "WRN" "0000421679" "WRN" "0000421680" "WRN" "0000421681" "WRN" "0000421682" "WRN" "0000421683" "WRN" "0000421684" "WRN" "0000421685" "WRN" "0000421686" "WRN" "0000421687" "WRN" "0000421688" "WRN" "0000421689" "WRN" "0000421690" "WRN" "0000421691" "WRN" "0000421692" "WRN" "0000421693" "WRN" "0000421694" "WRN" "0000421695" "WRN" "0000421696" "WRN" "0000421697" "WRN" "0000421906" "WRN" "0000421907" "WRN" "0000421908" "WRN" "0000421909" "WRN" "0000421910" "WRN" "0000421911" "WRN" "0000421912" "WRN" "0000421913" "WRN" "0000421914" "WRN" "0000421915" "WRN" "0000421916" "WRN" "0000421917" "WRN" "0000421918" "WRN" "0000421919" "WRN" "0000421920" "WRN" "0000421921" "WRN" "0000421922" "WRN" "0000421923" "WRN" "0000421924" "WRN" "0000421925" "WRN" "0000421926" "WRN" "0000421927" "WRN" "0000421928" "WRN" "0000421929" "WRN" "0000421930" "WRN" "0000421931" "WRN" "0000421932" "WRN" "0000421933" "WRN" "0000421934" "WRN" "0000421935" "WRN" "0000421936" "WRN" "0000421937" "WRN" "0000421938" "WRN" "0000421939" "WRN" "0000421940" "WRN" "0000421941" "WRN" "0000421942" "WRN" "0000421943" "WRN" "0000421944" "WRN" "0000421945" "WRN" "0000421946" "WRN" "0000421947" "WRN" "0000421948" "WRN" "0000421949" "WRN" "0000421950" "WRN" "0000421951" "WRN" "0000421952" "WRN" "0000421953" "WRN" "0000421954" "WRN" "0000421955" "WRN" "0000421956" "WRN" "0000421957" "WRN" "0000421958" "WRN" "0000421959" "WRN" "0000421960" "WRN" "0000421961" "WRN" "0000421962" "WRN" "0000421963" "WRN" "0000421964" "WRN" "0000421965" "WRN" "0000421966" "WRN" "0000421967" "WRN" "0000421968" "WRN" "0000421969" "WRN" "0000421970" "WRN" "0000421971" "WRN" "0000421972" "WRN" "0000421973" "WRN" "0000421974" "WRN" "0000421975" "WRN" "0000421976" "WRN" "0000421977" "WRN" "0000421978" "WRN" "0000421979" "WRN" "0000421980" "WRN" "0000421981" "WRN" "0000421982" "WRN" "0000421983" "WRN" "0000421984" "WRN" "0000421985" "WRN" "0000421986" "WRN" "0000421987" "WRN" "0000421988" "WRN" "0000421989" "WRN" "0000421990" "WRN" "0000421991" "WRN" "0000421992" "WRN" "0000421993" "WRN" "0000421994" "WRN" "0000421995" "WRN" "0000421996" "WRN" "0000421997" "WRN" "0000421998" "WRN" "0000421999" "WRN" "0000422000" "WRN" "0000422001" "WRN" "0000422002" "WRN" "0000422003" "WRN" "0000422004" "WRN" "0000422005" "WRN" "0000422006" "WRN" "0000422007" "WRN" "0000422008" "WRN" "0000422009" "WRN" "0000422010" "WRN" "0000422011" "WRN" "0000422012" "WRN" "0000422013" "WRN" "0000422014" "WRN" "0000422015" "WRN" "0000422016" "WRN" "0000422017" "WRN" "0000422018" "WRN" "0000422019" "WRN" "0000422020" "WRN" "0000422021" "WRN" "0000422022" "WRN" "0000422023" "WRN" "0000422024" "WRN" "0000422025" "WRN" "0000422026" "WRN" "0000422027" "WRN" "0000422028" "WRN" "0000422029" "WRN" "0000422030" "WRN" "0000422031" "WRN" "0000422032" "WRN" "0000422033" "WRN" "0000422034" "WRN" "0000422035" "WRN" "0000422036" "WRN" "0000422037" "WRN" "0000422038" "WRN" "0000422039" "WRN" "0000422040" "WRN" "0000422041" "WRN" "0000422042" "WRN" "0000422043" "WRN" "0000422044" "WRN" "0000422045" "WRN" "0000422046" "WRN" "0000422047" "WRN" "0000422048" "WRN" "0000422049" "WRN" "0000422050" "WRN" "0000422051" "WRN" "0000422052" "WRN" "0000422053" "WRN" "0000422054" "WRN" "0000422055" "WRN" "0000422056" "WRN" "0000422057" "WRN" "0000422058" "WRN" "0000422059" "WRN" "0000422060" "WRN" "0000422061" "WRN" "0000422062" "WRN" "0000422063" "WRN" "0000422064" "WRN" "0000422065" "WRN" "0000422066" "WRN" "0000422067" "WRN" "0000422068" "WRN" "0000422069" "WRN" "0000422070" "WRN" "0000422071" "WRN" "0000422072" "WRN" "0000422073" "WRN" "0000422074" "WRN" "0000422075" "WRN" "0000422076" "WRN" "0000422077" "WRN" "0000422078" "WRN" "0000422079" "WRN" "0000422080" "WRN" "0000422081" "WRN" "0000422082" "WRN" "0000422083" "WRN" "0000422084" "WRN" "0000422085" "WRN" "0000422086" "WRN" "0000422087" "WRN" "0000422088" "WRN" "0000422089" "WRN" "0000422090" "WRN" ## 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 = 476 "{{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}}" "0000004615" "3" "50" "8" "30988597" "30988597" "subst" "0" "00037" "WRN_000001" "g.30988597G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.31131081G>A" "" "VUS" "" "0000012598" "3" "50" "8" "30988597" "30988597" "subst" "0" "00037" "WRN_000001" "g.30988597G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.31131081G>A" "" "VUS" "" "0000249986" "0" "30" "8" "30938513" "30938513" "subst" "0.00355117" "02329" "WRN_000009" "g.30938513A>G" "" "" "" "WRN(NM_000553.4):c.970A>G (p.T324A), WRN(NM_000553.6):c.970A>G (p.T324A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31080997A>G" "" "likely benign" "" "0000250372" "0" "30" "8" "30916058" "30916058" "subst" "0.00311577" "02329" "WRN_000002" "g.30916058A>G" "" "" "" "WRN(NM_000553.4):c.95A>G (p.K32R, p.(Lys32Arg)), WRN(NM_000553.6):c.95A>G (p.K32R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31058542A>G" "" "likely benign" "" "0000250443" "0" "30" "8" "30954280" "30954280" "subst" "0" "02329" "WRN_000019" "g.30954280A>T" "" "" "" "WRN(NM_000553.6):c.1899-4A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31096764A>T" "" "likely benign" "" "0000250444" "0" "30" "8" "30954377" "30954377" "subst" "0.0023016" "02329" "WRN_000020" "g.30954377A>G" "" "" "" "WRN(NM_000553.6):c.1981+11A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31096861A>G" "" "likely benign" "" "0000254077" "0" "30" "8" "30938513" "30938513" "subst" "0.00355117" "01943" "WRN_000009" "g.30938513A>G" "" "" "" "WRN(NM_000553.4):c.970A>G (p.T324A), WRN(NM_000553.6):c.970A>G (p.T324A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31080997A>G" "" "likely benign" "" "0000254575" "0" "30" "8" "30974012" "30974012" "subst" "0" "01943" "WRN_000057" "g.30974012A>G" "" "" "" "WRN(NM_000553.4):c.2416A>G (p.I806V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31116496A>G" "" "likely benign" "" "0000313103" "0" "10" "8" "30958360" "30958360" "del" "0" "02325" "WRN_000021" "g.30958360del" "" "" "" "WRN(NM_000553.6):c.1982-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31100844del" "" "benign" "" "0000313104" "0" "10" "8" "30973957" "30973957" "subst" "0.452872" "02325" "WRN_000022" "g.30973957G>T" "" "" "" "WRN(NM_000553.6):c.2361G>T (p.L787=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31116441G>T" "" "benign" "" "0000313105" "0" "10" "8" "30999122" "30999122" "subst" "0.47199" "02325" "WRN_000026" "g.30999122C>T" "" "" "" "WRN(NM_000553.6):c.3138+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31141606C>T" "" "benign" "" "0000313106" "0" "10" "8" "30999123" "30999123" "subst" "0.452382" "02325" "WRN_000027" "g.30999123G>A" "" "" "" "WRN(NM_000553.6):c.3138+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31141607G>A" "" "benign" "" "0000313107" "0" "10" "8" "30999280" "30999280" "subst" "0.453173" "02325" "WRN_000028" "g.30999280G>T" "" "" "" "WRN(NM_000553.6):c.3222G>T (p.L1074F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31141764G>T" "" "benign" "" "0000313108" "0" "10" "8" "31024654" "31024654" "subst" "0.238656" "02325" "WRN_000041" "g.31024654T>C" "" "" "" "WRN(NM_000553.6):c.4099T>C (p.C1367R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31167138T>C" "" "benign" "" "0000313109" "0" "10" "8" "30924557" "30924557" "subst" "0.712819" "02325" "WRN_000005" "g.30924557C>T" "" "" "" "WRN(NM_000553.6):c.513C>T (p.C171=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31067041C>T" "" "benign" "" "0000313715" "0" "90" "8" "30938648" "30938648" "subst" "0.000179118" "02329" "WRN_000010" "g.30938648C>T" "" "" "" "WRN(NM_000553.6):c.1105C>T (p.(Arg369Ter), p.R369*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic" "" "0000313716" "0" "30" "8" "30945364" "30945364" "subst" "3.66476E-5" "02329" "WRN_000012" "g.30945364G>C" "" "" "" "WRN(NM_000553.6):c.1504G>C (p.G502R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31087848G>C" "" "likely benign" "" "0000313717" "0" "30" "8" "30949343" "30949343" "subst" "4.06673E-6" "02329" "WRN_000014" "g.30949343T>C" "" "" "" "WRN(NM_000553.6):c.1830-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31091827T>C" "" "likely benign" "" "0000313718" "0" "10" "8" "30954274" "30954274" "subst" "0" "02329" "WRN_000017" "g.30954274G>T" "" "" "" "WRN(NM_000553.4):c.1899-10G>T, WRN(NM_000553.6):c.1899-10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31096758G>T" "" "benign" "" "0000313719" "0" "10" "8" "30954270" "30954270" "subst" "0" "02329" "WRN_000016" "g.30954270G>T" "" "" "" "WRN(NM_000553.6):c.1899-14G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31096754G>T" "" "benign" "" "0000313720" "0" "10" "8" "30954265" "30954265" "subst" "0" "02329" "WRN_000015" "g.30954265C>T" "" "" "" "WRN(NM_000553.6):c.1899-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31096749C>T" "" "benign" "" "0000313722" "0" "50" "8" "30921812" "30921812" "subst" "0" "02329" "WRN_000003" "g.30921812C>G" "" "" "" "WRN(NM_000553.6):c.217C>G (p.L73V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31064296C>G" "" "VUS" "" "0000313723" "0" "50" "8" "30998956" "30998956" "subst" "2.03092E-5" "02329" "WRN_000025" "g.30998956G>A" "" "" "" "WRN(NM_000553.4):c.2978G>A (p.R993H), WRN(NM_000553.6):c.2978G>A (p.R993H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31141440G>A" "" "VUS" "" "0000313724" "0" "10" "8" "31000144" "31000144" "subst" "0.00426134" "02329" "WRN_000029" "g.31000144C>T" "" "" "" "WRN(NM_000553.6):c.3236C>T (p.S1079L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31142628C>T" "" "benign" "" "0000313725" "0" "30" "8" "31001049" "31001049" "subst" "4.27464E-6" "02329" "WRN_000030" "g.31001049T>C" "" "" "" "WRN(NM_000553.6):c.3310-17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31143533T>C" "" "likely benign" "" "0000313726" "0" "30" "8" "31004638" "31004638" "subst" "0.000552428" "02329" "WRN_000032" "g.31004638G>A" "" "" "" "WRN(NM_000553.4):c.3453G>A (p.E1151=), WRN(NM_000553.6):c.3453G>A (p.E1151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31147122G>A" "" "likely benign" "" "0000313727" "0" "30" "8" "31004863" "31004863" "subst" "4.06309E-6" "02329" "WRN_000033" "g.31004863C>G" "" "" "" "WRN(NM_000553.6):c.3460-17C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31147347C>G" "" "likely benign" "" "0000313728" "0" "30" "8" "31012190" "31012190" "subst" "0.000321081" "02329" "WRN_000036" "g.31012190G>A" "" "" "" "WRN(NM_000553.4):c.3738G>A (p.L1246=), WRN(NM_000553.6):c.3738G>A (p.L1246=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31154674G>A" "" "likely benign" "" "0000313729" "0" "30" "8" "31012237" "31012237" "subst" "0.00275027" "02329" "WRN_000037" "g.31012237C>G" "" "" "" "WRN(NM_000553.4):c.3785C>G (p.T1262R), WRN(NM_000553.6):c.3785C>G (p.T1262R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31154721C>G" "" "likely benign" "" "0000313730" "0" "30" "8" "31014939" "31014939" "subst" "0.00107299" "02329" "WRN_000039" "g.31014939C>A" "" "" "" "WRN(NM_000553.4):c.3875C>A (p.S1292Y), WRN(NM_000553.6):c.3875C>A (p.S1292Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31157423C>A" "" "likely benign" "" "0000313731" "0" "30" "8" "31014964" "31014964" "subst" "0.000479554" "02329" "WRN_000040" "g.31014964C>A" "" "" "" "WRN(NM_000553.4):c.3900C>A (p.P1300=), WRN(NM_000553.6):c.3900C>A (p.P1300=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31157448C>A" "" "likely benign" "" "0000313732" "0" "30" "8" "30924545" "30924545" "subst" "4.06564E-6" "02329" "WRN_000004" "g.30924545C>G" "" "" "" "WRN(NM_000553.6):c.505-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31067029C>G" "" "likely benign" "" "0000313734" "0" "10" "8" "30933828" "30933828" "del" "0" "02329" "WRN_000008" "g.30933828del" "" "" "" "WRN(NM_000553.6):c.839+25delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31076312del" "" "benign" "" "0000320009" "0" "30" "8" "30938692" "30938692" "subst" "0.0020958" "01943" "WRN_000011" "g.30938692G>T" "" "" "" "WRN(NM_000553.4):c.1149G>T (p.L383F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31081176G>T" "" "likely benign" "" "0000320010" "0" "30" "8" "30954274" "30954274" "subst" "0" "01943" "WRN_000017" "g.30954274G>T" "" "" "" "WRN(NM_000553.4):c.1899-10G>T, WRN(NM_000553.6):c.1899-10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31096758G>T" "" "likely benign" "" "0000320011" "0" "50" "8" "30977831" "30977831" "subst" "6.50634E-5" "01943" "WRN_000023" "g.30977831G>A" "" "" "" "WRN(NM_000553.4):c.2521G>A (p.A841T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31120315G>A" "" "VUS" "" "0000320012" "0" "30" "8" "30977905" "30977905" "subst" "3.2555E-5" "01943" "WRN_000024" "g.30977905C>T" "" "" "" "WRN(NM_000553.4):c.2595C>T (p.H865=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31120389C>T" "" "likely benign" "" "0000320013" "0" "30" "8" "31004607" "31004607" "subst" "0.000836786" "01943" "WRN_000031" "g.31004607C>T" "" "" "" "WRN(NM_000553.4):c.3422C>T (p.S1141L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31147091C>T" "" "likely benign" "" "0000320014" "0" "30" "8" "31004638" "31004638" "subst" "0.000552428" "01943" "WRN_000032" "g.31004638G>A" "" "" "" "WRN(NM_000553.4):c.3453G>A (p.E1151=), WRN(NM_000553.6):c.3453G>A (p.E1151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31147122G>A" "" "likely benign" "" "0000320015" "0" "30" "8" "31007866" "31007866" "subst" "8.12592E-6" "01943" "WRN_000035" "g.31007866G>T" "" "" "" "WRN(NM_000553.4):c.3582G>T (p.T1194=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31150350G>T" "" "likely benign" "" "0000337675" "0" "10" "8" "30921970" "30921970" "subst" "0.0498899" "02327" "WRN_000043" "g.30921970A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31064454A>T" "" "benign" "" "0000337676" "0" "90" "8" "30922580" "30922580" "subst" "0" "02327" "WRN_000045" "g.30922580G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31065064G>A" "" "pathogenic" "" "0000337677" "0" "10" "8" "30946403" "30946403" "subst" "0.0565511" "02327" "WRN_000048" "g.30946403C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31088887C>A" "" "benign" "" "0000337678" "0" "90" "8" "30946482" "30946482" "subst" "0" "02327" "WRN_000049" "g.30946482G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31088966G>A" "" "pathogenic" "" "0000337680" "0" "10" "8" "30999122" "30999122" "subst" "0.47199" "02327" "WRN_000026" "g.30999122C>T" "" "" "" "WRN(NM_000553.6):c.3138+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31141606C>T" "" "benign" "" "0000337681" "0" "10" "8" "30999123" "30999123" "subst" "0.452382" "02327" "WRN_000027" "g.30999123G>A" "" "" "" "WRN(NM_000553.6):c.3138+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31141607G>A" "" "benign" "" "0000337682" "0" "90" "8" "31004568" "31004568" "subst" "1.63117E-5" "02327" "WRN_000053" "g.31004568G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31147052G>A" "" "pathogenic" "" "0000337683" "0" "70" "8" "31005011" "31005011" "subst" "0.0194245" "02327" "WRN_000054" "g.31005011G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31147495G>A" "" "likely pathogenic" "" "0000339806" "0" "10" "8" "30924557" "30924557" "subst" "0.712819" "02327" "WRN_000005" "g.30924557C>T" "" "" "" "WRN(NM_000553.6):c.513C>T (p.C171=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31067041C>T" "" "benign" "" "0000339807" "0" "10" "8" "30973957" "30973957" "subst" "0.452872" "02327" "WRN_000022" "g.30973957G>T" "" "" "" "WRN(NM_000553.6):c.2361G>T (p.L787=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31116441G>T" "" "benign" "" "0000339812" "0" "10" "8" "31024638" "31024638" "subst" "0.297458" "02327" "WRN_000056" "g.31024638C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31167122C>T" "" "benign" "" "0000342749" "0" "90" "8" "30938648" "30938648" "subst" "0.000179118" "02327" "WRN_000010" "g.30938648C>T" "" "" "" "WRN(NM_000553.6):c.1105C>T (p.(Arg369Ter), p.R369*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic" "" "0000344264" "0" "10" "8" "31024654" "31024654" "subst" "0.238656" "02327" "WRN_000041" "g.31024654T>C" "" "" "" "WRN(NM_000553.6):c.4099T>C (p.C1367R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31167138T>C" "" "benign" "" "0000345280" "0" "50" "8" "30925843" "30925843" "subst" "4.16341E-6" "02327" "WRN_000046" "g.30925843G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31068327G>C" "" "VUS" "" "0000345693" "0" "50" "8" "31014983" "31014983" "subst" "0" "02327" "WRN_000055" "g.31014983G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31157467G>A" "" "VUS" "" "0000346845" "0" "10" "8" "30999280" "30999280" "subst" "0.453173" "02327" "WRN_000028" "g.30999280G>T" "" "" "" "WRN(NM_000553.6):c.3222G>T (p.L1074F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31141764G>T" "" "benign" "" "0000347828" "0" "10" "8" "30938704" "30938704" "subst" "0.0756188" "02327" "WRN_000047" "g.30938704G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31081188G>A" "" "benign" "" "0000349218" "0" "90" "8" "30989910" "30989910" "subst" "0" "02327" "WRN_000052" "g.30989910C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31132394C>G" "" "pathogenic" "" "0000349267" "0" "10" "8" "31012237" "31012237" "subst" "0.00275027" "02327" "WRN_000037" "g.31012237C>G" "" "" "" "WRN(NM_000553.4):c.3785C>G (p.T1262R), WRN(NM_000553.6):c.3785C>G (p.T1262R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31154721C>G" "" "benign" "" "0000349693" "0" "90" "8" "30922510" "30922510" "subst" "4.06283E-6" "02327" "WRN_000044" "g.30922510G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31064994G>A" "" "pathogenic" "" "0000350250" "0" "10" "8" "30921935" "30921935" "subst" "0.0581057" "02327" "WRN_000042" "g.30921935G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31064419G>A" "" "benign" "" "0000534673" "0" "30" "8" "30916058" "30916058" "subst" "0.00311577" "01943" "WRN_000002" "g.30916058A>G" "" "" "" "WRN(NM_000553.4):c.95A>G (p.K32R, p.(Lys32Arg)), WRN(NM_000553.6):c.95A>G (p.K32R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31058542A>G" "" "likely benign" "" "0000534674" "0" "30" "8" "30916058" "30916058" "subst" "0.00311577" "01804" "WRN_000002" "g.30916058A>G" "" "" "" "WRN(NM_000553.4):c.95A>G (p.K32R, p.(Lys32Arg)), WRN(NM_000553.6):c.95A>G (p.K32R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31058542A>G" "" "likely benign" "" "0000534675" "0" "30" "8" "30922527" "30922527" "subst" "0.000113755" "01943" "WRN_000059" "g.30922527T>A" "" "" "" "WRN(NM_000553.4):c.452T>A (p.F151Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31065011T>A" "" "likely benign" "" "0000534677" "0" "30" "8" "30924558" "30924558" "subst" "6.09736E-5" "01943" "WRN_000006" "g.30924558A>C" "" "" "" "WRN(NM_000553.4):c.514A>C (p.T172P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31067042A>C" "" "likely benign" "" "0000534678" "0" "10" "8" "30933828" "30933828" "dup" "0" "02329" "WRN_000061" "g.30933828dup" "" "" "" "WRN(NM_000553.6):c.839+25dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31076312dup" "" "benign" "" "0000534679" "0" "50" "8" "30938816" "30938816" "subst" "0" "01804" "WRN_000062" "g.30938816C>T" "" "" "" "WRN(NM_000553.4):c.1269+4C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31081300C>T" "" "VUS" "" "0000534680" "0" "30" "8" "30945364" "30945364" "subst" "0" "01943" "WRN_000063" "g.30945364G>A" "" "" "" "WRN(NM_000553.4):c.1504G>A (p.G502S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31087848G>A" "" "likely benign" "" "0000534681" "0" "50" "8" "30945387" "30945392" "del" "0" "01943" "WRN_000064" "g.30945387_30945392del" "" "" "" "WRN(NM_000553.4):c.1527_1532delAGAAGA (p.E509_E510del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31087871_31087876del" "" "VUS" "" "0000534682" "0" "30" "8" "30945390" "30945390" "subst" "0.000729065" "01943" "WRN_000065" "g.30945390A>T" "" "" "" "WRN(NM_000553.4):c.1530A>T (p.E510D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31087874A>T" "" "likely benign" "" "0000534683" "0" "10" "8" "30948417" "30948417" "subst" "0.00113381" "02329" "WRN_000066" "g.30948417T>C" "" "" "" "WRN(NM_000553.6):c.1788T>C (p.S596=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31090901T>C" "" "benign" "" "0000534684" "0" "30" "8" "30954279" "30954280" "ins" "0" "02329" "WRN_000067" "g.30954279_30954280insTTAT" "" "" "" "WRN(NM_000553.6):c.1899-5_1899-4insTTAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31096763_31096764insTTAT" "" "likely benign" "" "0000534686" "0" "30" "8" "30958450" "30958450" "subst" "7.71931E-5" "01943" "WRN_000068" "g.30958450C>T" "" "" "" "WRN(NM_000553.4):c.2067C>T (p.S689=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31100934C>T" "" "likely benign" "" "0000534687" "0" "50" "8" "30969173" "30969173" "subst" "0.000223434" "01943" "WRN_000069" "g.30969173C>T" "" "" "" "WRN(NM_000553.4):c.2131C>T (p.R711W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31111657C>T" "" "VUS" "" "0000534688" "0" "50" "8" "30973934" "30973934" "subst" "0.000463358" "01804" "WRN_000070" "g.30973934G>A" "" "" "" "WRN(NM_000553.4):c.2338G>A (p.V780I, p.(Val780Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31116418G>A" "" "VUS" "" "0000534689" "0" "90" "8" "30982072" "30982072" "subst" "2.84687E-5" "01943" "WRN_000071" "g.30982072C>T" "" "" "" "WRN(NM_000553.4):c.2665C>T (p.R889*), WRN(NM_000553.6):c.2665C>T (p.(Arg889Ter), p.R889*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31124556C>T" "" "pathogenic" "" "0000534690" "0" "90" "8" "30982072" "30982072" "subst" "2.84687E-5" "02329" "WRN_000071" "g.30982072C>T" "" "" "" "WRN(NM_000553.4):c.2665C>T (p.R889*), WRN(NM_000553.6):c.2665C>T (p.(Arg889Ter), p.R889*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31124556C>T" "" "pathogenic" "" "0000534691" "0" "30" "8" "30989995" "30989995" "subst" "8.12691E-5" "02329" "WRN_000072" "g.30989995G>C" "" "" "" "WRN(NM_000553.4):c.2940G>C (p.G980=), WRN(NM_000553.6):c.2940G>C (p.G980=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31132479G>C" "" "likely benign" "" "0000534692" "0" "30" "8" "30998961" "30998961" "subst" "0.00238854" "01943" "WRN_000073" "g.30998961G>A" "" "" "" "WRN(NM_000553.4):c.2983G>A (p.A995T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31141445G>A" "" "likely benign" "" "0000534693" "0" "50" "8" "31004979" "31004979" "subst" "8.12222E-6" "01943" "WRN_000034" "g.31004979A>G" "" "" "" "WRN(NM_000553.4):c.3559A>G (p.M1187V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31147463A>G" "" "VUS" "" "0000534694" "0" "50" "8" "31004995" "31004995" "subst" "0" "02327" "WRN_000074" "g.31004995A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31147479A>C" "" "VUS" "" "0000534695" "0" "30" "8" "31012190" "31012190" "subst" "0.000321081" "01943" "WRN_000036" "g.31012190G>A" "" "" "" "WRN(NM_000553.4):c.3738G>A (p.L1246=), WRN(NM_000553.6):c.3738G>A (p.L1246=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31154674G>A" "" "likely benign" "" "0000534696" "0" "50" "8" "31012237" "31012237" "subst" "0.00275027" "01943" "WRN_000037" "g.31012237C>G" "" "" "" "WRN(NM_000553.4):c.3785C>G (p.T1262R), WRN(NM_000553.6):c.3785C>G (p.T1262R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31154721C>G" "" "VUS" "" "0000534697" "0" "30" "8" "31014939" "31014939" "subst" "0.00107299" "01943" "WRN_000039" "g.31014939C>A" "" "" "" "WRN(NM_000553.4):c.3875C>A (p.S1292Y), WRN(NM_000553.6):c.3875C>A (p.S1292Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31157423C>A" "" "likely benign" "" "0000534698" "0" "50" "8" "31014945" "31014945" "subst" "0.000219489" "01943" "WRN_000075" "g.31014945C>T" "" "" "" "WRN(NM_000553.4):c.3881C>T (p.A1294V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31157429C>T" "" "VUS" "" "0000534699" "0" "50" "8" "31030535" "31030535" "subst" "0.00314727" "01943" "WRN_000058" "g.31030535C>T" "" "" "" "WRN(NM_000553.4):c.4216C>T (p.R1406*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31173019C>T" "" "VUS" "" "0000578085" "0" "50" "8" "31030535" "31030535" "subst" "0.00314727" "01474" "WRN_000058" "g.31030535C>T" "" "{PMID:Lhota 2016:26822949}" "" "" "" "Germline" "" "rs11574410" "0" "" "" "g.31173019C>T" "" "VUS" "" "0000578139" "0" "50" "8" "30924648" "30924648" "subst" "0" "01474" "WRN_000060" "g.30924648A>T" "" "{PMID:Lhota 2016:26822949}" "" "" "" "Germline" "" "" "0" "" "" "g.31067132A>T" "" "VUS" "" "0000611605" "0" "30" "8" "30989995" "30989995" "subst" "8.12691E-5" "01943" "WRN_000072" "g.30989995G>C" "" "" "" "WRN(NM_000553.4):c.2940G>C (p.G980=), WRN(NM_000553.6):c.2940G>C (p.G980=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31132479G>C" "" "likely benign" "" "0000611606" "0" "30" "8" "31012183" "31012183" "subst" "0.000203302" "01943" "WRN_000076" "g.31012183C>T" "" "" "" "WRN(NM_000553.4):c.3731C>T (p.T1244M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31154667C>T" "" "likely benign" "" "0000611607" "0" "30" "8" "31014964" "31014964" "subst" "0.000479554" "01943" "WRN_000040" "g.31014964C>A" "" "" "" "WRN(NM_000553.4):c.3900C>A (p.P1300=), WRN(NM_000553.6):c.3900C>A (p.P1300=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31157448C>A" "" "likely benign" "" "0000622061" "0" "50" "8" "31012276" "31012276" "subst" "6.909E-5" "01943" "WRN_000077" "g.31012276G>C" "" "" "" "WRN(NM_000553.4):c.3819+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31154760G>C" "" "VUS" "" "0000652483" "1" "30" "8" "30891353" "30891353" "subst" "0" "03575" "WRN_000078" "g.30891353G>A" "119/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "119 heterozygous; {DB:CLININrs11574158}" "Germline" "" "rs11574158" "0" "" "" "g.31033837G>A" "" "likely benign" "" "0000652484" "1" "50" "8" "30921921" "30921921" "subst" "3.65574E-5" "03575" "WRN_000079" "g.30921921G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs142346721}" "Germline" "" "rs142346721" "0" "" "" "g.31064405G>A" "" "VUS" "" "0000656081" "0" "30" "8" "30921934" "30921934" "subst" "7.31214E-5" "01943" "WRN_000080" "g.30921934C>T" "" "" "" "WRN(NM_000553.4):c.339C>T (p.H113=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31064418C>T" "" "likely benign" "" "0000663598" "3" "50" "8" "31001099" "31001099" "subst" "4.07438E-6" "00006" "WRN_000081" "g.31001099T>A" "" "{PMID:Arno 2017:28132693}" "" "" "" "Germline" "" "" "0" "" "" "g.31143583T>A" "" "VUS" "" "0000670013" "3" "30" "8" "30891353" "30891353" "subst" "0" "03575" "WRN_000078" "g.30891353G>A" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 homozygous; {DB:CLININrs11574158}" "Germline" "" "rs11574158" "0" "" "" "g.31033837G>A" "" "likely benign" "" "0000678378" "0" "30" "8" "30958461" "30958461" "subst" "1.21939E-5" "01943" "WRN_000082" "g.30958461C>G" "" "" "" "WRN(NM_000553.4):c.2078C>G (p.A693G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678379" "0" "90" "8" "31024666" "31024666" "subst" "0" "01943" "WRN_000083" "g.31024666A>T" "" "" "" "WRN(NM_000553.4):c.4111A>T (p.K1371*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000690252" "0" "30" "8" "30921954" "30921954" "subst" "0.00155203" "02325" "WRN_000084" "g.30921954G>C" "" "" "" "WRN(NM_000553.4):c.355+4G>C, WRN(NM_000553.6):c.355+4G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690253" "0" "30" "8" "30925822" "30925822" "subst" "0" "02329" "WRN_000085" "g.30925822C>G" "" "" "" "WRN(NM_000553.6):c.703C>G (p.Q235E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690254" "0" "50" "8" "30954322" "30954322" "subst" "8.1363E-6" "02325" "WRN_000086" "g.30954322G>A" "" "" "" "WRN(NM_000553.6):c.1937G>A (p.C646Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721960" "0" "30" "8" "30924689" "30924689" "subst" "8.13279E-6" "01943" "WRN_000087" "g.30924689T>A" "" "" "" "WRN(NM_000553.4):c.645T>A (p.T215=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721961" "0" "50" "8" "30973934" "30973934" "subst" "0.000463358" "01943" "WRN_000070" "g.30973934G>A" "" "" "" "WRN(NM_000553.4):c.2338G>A (p.V780I, p.(Val780Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721962" "0" "50" "8" "30998956" "30998956" "subst" "2.03092E-5" "01943" "WRN_000025" "g.30998956G>A" "" "" "" "WRN(NM_000553.4):c.2978G>A (p.R993H), WRN(NM_000553.6):c.2978G>A (p.R993H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803622" "0" "50" "8" "30948045" "30948045" "subst" "0.00139981" "01943" "WRN_000088" "g.30948045A>G" "" "" "" "WRN(NM_000553.4):c.1717A>G (p.T573A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803623" "0" "50" "8" "30977873" "30977873" "subst" "0" "01943" "WRN_000089" "g.30977873G>A" "" "" "" "WRN(NM_000553.4):c.2563G>A (p.A855T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803624" "0" "90" "8" "31012272" "31012272" "subst" "0" "01943" "WRN_000090" "g.31012272G>C" "" "" "" "WRN(NM_000553.4):c.3819+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000803625" "0" "30" "8" "31014939" "31014939" "subst" "0.00107299" "02326" "WRN_000039" "g.31014939C>A" "" "" "" "WRN(NM_000553.4):c.3875C>A (p.S1292Y), WRN(NM_000553.6):c.3875C>A (p.S1292Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000845036" "0" "90" "8" "31000152" "31000152" "del" "4.15901E-6" "00006" "WRN_000093" "g.31000152del" "1/486 cases" "{PMID:Jiang 2022:33563768}" "" "3244delG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31142636del" "" "pathogenic" "" "0000845037" "0" "90" "8" "30922577" "30922578" "del" "0" "00006" "WRN_000091" "g.30922577_30922578del" "1/486 cases" "{PMID:Jiang 2022:33563768}" "" "502_503delAA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31065061_31065062del" "" "pathogenic" "" "0000845121" "0" "50" "8" "30933706" "30933706" "subst" "0" "00006" "WRN_000092" "g.30933706A>G" ">1/309 cases" "{PMID:Jiang 2022:33563768}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31076190A>G" "" "VUS" "" "0000851905" "0" "30" "8" "30921954" "30921954" "subst" "0.00155203" "01943" "WRN_000084" "g.30921954G>C" "" "" "" "WRN(NM_000553.4):c.355+4G>C, WRN(NM_000553.6):c.355+4G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851906" "0" "50" "8" "30948034" "30948034" "subst" "0" "01943" "WRN_000095" "g.30948034C>T" "" "" "" "WRN(NM_000553.4):c.1706C>T (p.A569V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851907" "0" "70" "8" "30954282" "30954282" "subst" "8.35869E-6" "01943" "WRN_000096" "g.30954282A>T" "" "" "" "WRN(NM_000553.4):c.1899-2A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000861198" "0" "10" "8" "30938698" "30938698" "subst" "0.00472148" "02329" "WRN_000094" "g.30938698G>A" "" "" "" "WRN(NM_000553.6):c.1155G>A (p.E385=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000873694" "0" "70" "8" "30916777" "30916777" "dup" "0" "00103" "WRN_000097" "g.30916777dup" "" "" "" "205dupA" "" "Germline" "" "" "0" "" "" "g.31059261dup" "" "likely pathogenic" "ACMG" "0000873695" "0" "90" "8" "30938522" "30938522" "subst" "0" "00103" "WRN_000098" "g.30938522G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000873696" "0" "70" "8" "31024568" "31024568" "del" "0" "00103" "WRN_000099" "g.31024568del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.31167052del" "" "likely pathogenic" "ACMG" "0000873697" "0" "90" "8" "30977914" "30977914" "subst" "0" "00103" "WRN_000100" "g.30977914G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000873698" "0" "70" "8" "31024672" "31024675" "dup" "0" "00103" "WRN_000101" "g.31024672_31024675dup" "" "" "" "4117_4120dupAGAT" "" "Germline" "" "" "0" "" "" "g.31167156_31167159dup" "" "likely pathogenic" "ACMG" "0000881955" "3" "90" "8" "30924605" "30924605" "subst" "3.6572E-5" "00006" "WRN_000102" "g.30924605A>G" "" "{PMID:Saha 2013:23936869}" "" "" "" "Germline" "" "" "0" "" "" "g.31067089A>G" "" "pathogenic (recessive)" "" "0000881956" "3" "10" "8" "30916085" "30916085" "subst" "0.989786" "00006" "WRN_000103" "g.30916085T>C" "" "{PMID:Saha 2013:23936869}" "" "" "" "Germline" "" "rs2737316" "0" "" "" "" "" "benign" "" "0000881957" "3" "10" "8" "30924557" "30924557" "subst" "0.712819" "00006" "WRN_000005" "g.30924557C>T" "" "{PMID:Saha 2013:23936869}" "" "" "" "Germline" "" "rs1800389" "0" "" "" "" "" "benign" "" "0000881958" "3" "10" "8" "30938704" "30938704" "subst" "0.0756188" "00006" "WRN_000047" "g.30938704G>A" "" "{PMID:Saha 2013:23936869}" "" "" "" "Germline" "" "rs1800391" "0" "" "" "" "" "benign" "" "0000881959" "3" "10" "8" "30941317" "30941317" "subst" "0.565708" "00006" "WRN_000104" "g.30941317T>C" "" "{PMID:Saha 2013:23936869}" "" "" "" "Germline" "" "rs2737325" "0" "" "" "" "" "benign" "" "0000881960" "3" "10" "8" "30958360" "30958360" "del" "0" "00006" "WRN_000021" "g.30958360del" "" "{PMID:Saha 2013:23936869}" "" "1982-11delT" "" "Germline" "" "rs3087419" "0" "" "" "g.31100844del" "" "benign" "" "0000881961" "3" "10" "8" "30999122" "30999122" "subst" "0.47199" "00006" "WRN_000026" "g.30999122C>T" "" "{PMID:Saha 2013:23936869}" "" "" "" "Germline" "" "rs3024239" "0" "" "" "" "" "benign" "" "0000881962" "3" "10" "8" "31005016" "31005016" "dup" "0" "00006" "WRN_000105" "g.31005016dup" "" "{PMID:Saha 2013:23936869}" "" "3572+24_3572+25insC" "" "Germline" "" "rs3087415" "0" "" "" "g.31147500dup" "" "benign" "" "0000881963" "3" "10" "8" "31024638" "31024638" "subst" "0.297458" "00006" "WRN_000056" "g.31024638C>T" "" "{PMID:Saha 2013:23936869}" "" "" "" "Germline" "" "rs1801196" "0" "" "" "" "" "benign" "" "0000881964" "3" "90" "8" "30924605" "30924605" "subst" "3.6572E-5" "00006" "WRN_000102" "g.30924605A>G" "" "{PMID:Saha 2013:23936869}" "" "" "" "Germline" "" "" "0" "" "" "g.31067089A>G" "" "pathogenic (recessive)" "" "0000881965" "3" "10" "8" "30916085" "30916085" "subst" "0.989786" "00006" "WRN_000103" "g.30916085T>C" "" "{PMID:Saha 2013:23936869}" "" "" "" "Germline" "" "rs2737316" "0" "" "" "" "" "benign" "" "0000881966" "3" "10" "8" "30924557" "30924557" "subst" "0.712819" "00006" "WRN_000005" "g.30924557C>T" "" "{PMID:Saha 2013:23936869}" "" "" "" "Germline" "" "rs1800389" "0" "" "" "" "" "benign" "" "0000881967" "3" "10" "8" "30938704" "30938704" "subst" "0.0756188" "00006" "WRN_000047" "g.30938704G>A" "" "{PMID:Saha 2013:23936869}" "" "" "" "Germline" "" "rs1800391" "0" "" "" "" "" "benign" "" "0000881968" "3" "10" "8" "30941317" "30941317" "subst" "0.565708" "00006" "WRN_000104" "g.30941317T>C" "" "{PMID:Saha 2013:23936869}" "" "" "" "Germline" "" "rs2737325" "0" "" "" "" "" "benign" "" "0000881969" "3" "10" "8" "30958360" "30958360" "del" "0" "00006" "WRN_000021" "g.30958360del" "" "{PMID:Saha 2013:23936869}" "" "1982-11delT" "" "Germline" "" "rs3087419" "0" "" "" "g.31100844del" "" "benign" "" "0000881970" "3" "10" "8" "30999122" "30999122" "subst" "0.47199" "00006" "WRN_000026" "g.30999122C>T" "" "{PMID:Saha 2013:23936869}" "" "" "" "Germline" "" "rs3024239" "0" "" "" "" "" "benign" "" "0000881971" "3" "10" "8" "31005016" "31005016" "dup" "0" "00006" "WRN_000105" "g.31005016dup" "" "{PMID:Saha 2013:23936869}" "" "3572+24_3572+25insC" "" "Germline" "" "rs3087415" "0" "" "" "g.31147500dup" "" "benign" "" "0000881972" "3" "10" "8" "31024638" "31024638" "subst" "0.297458" "00006" "WRN_000056" "g.31024638C>T" "" "{PMID:Saha 2013:23936869}" "" "" "" "Germline" "" "rs1801196" "0" "" "" "" "" "benign" "" "0000882011" "3" "90" "8" "30989910" "30989910" "subst" "0" "00006" "WRN_000106" "g.30989910C>A" "" "{PMID:Friedrich 2010:20443122}, {PMID:Saha 2013:23936869}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000882012" "3" "10" "8" "30916085" "30916085" "subst" "0.989786" "00006" "WRN_000103" "g.30916085T>C" "" "{PMID:Saha 2013:23936869}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000882014" "3" "10" "8" "30977696" "30977696" "subst" "0" "00006" "WRN_000107" "g.30977696A>G" "" "{PMID:Saha 2013:23936869}" "" "" "" "Germline" "" "rs4987034" "0" "" "" "" "" "benign" "" "0000882015" "3" "10" "8" "30981971" "30981971" "subst" "0" "00006" "WRN_000108" "g.30981971G>T" "" "{PMID:Saha 2013:23936869}" "" "" "" "Germline" "" "rs3087417" "0" "" "" "" "" "benign" "" "0000882016" "3" "10" "8" "31004443" "31004443" "subst" "0" "00006" "WRN_000109" "g.31004443T>C" "" "{PMID:Saha 2013:23936869}" "" "" "" "Germline" "" "rs17652261" "0" "" "" "" "" "benign" "" "0000882017" "3" "10" "8" "31004465" "31004465" "subst" "0" "00006" "WRN_000110" "g.31004465T>A" "" "{PMID:Saha 2013:23936869}" "" "" "" "Germline" "" "rs17652297" "0" "" "" "" "" "benign" "" "0000882018" "3" "10" "8" "30958360" "30958360" "del" "0" "00006" "WRN_000021" "g.30958360del" "" "{PMID:Saha 2013:23936869}" "" "1982-11delT" "" "Germline" "" "rs3087419" "0" "" "" "g.31100844del" "" "benign" "" "0000882019" "3" "10" "8" "30999122" "30999122" "subst" "0.47199" "00006" "WRN_000026" "g.30999122C>T" "" "{PMID:Saha 2013:23936869}" "" "" "" "Germline" "" "rs3024239" "0" "" "" "" "" "benign" "" "0000882020" "3" "10" "8" "31005016" "31005016" "dup" "0" "00006" "WRN_000105" "g.31005016dup" "" "{PMID:Saha 2013:23936869}" "" "3572+24_3572+25insC" "" "Germline" "" "rs3087415" "0" "" "" "g.31147500dup" "" "benign" "" "0000882021" "3" "10" "8" "31024654" "31024654" "subst" "0.238656" "00006" "WRN_000041" "g.31024654T>C" "" "{PMID:Saha 2013:23936869}" "" "" "" "Germline" "" "rs1346044" "0" "" "" "" "" "benign" "" "0000882022" "21" "90" "8" "31024664" "31024664" "del" "0" "00006" "WRN_000111" "g.31024664del" "" "{PMID:Yang 2015:26241669}" "" "4108delA" "" "Germline" "" "" "0" "" "" "g.31167148del" "" "pathogenic" "" "0000882025" "1" "90" "8" "31004913" "31004913" "subst" "0" "00006" "WRN_000112" "g.31004913C>T" "" "{PMID:Lessel 2014:24989684}" "" "" "variant suggested to influence AGS phenotype" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000882089" "1" "90" "8" "30916743" "30916743" "subst" "0" "00006" "WRN_000113" "g.30916743C>G" "" "{PMID:Huang 2006:16673358}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000882093" "2" "90" "8" "30969691" "31522697" "delins" "0" "00006" "WRN_000114" "g.30969691_31522697delinsCTCACTGCAGCCTCAAACTCCTGGGTTCAAC" "" "{PMID:Friedrich 2010:20443122}" "" "hg18 g.31231718-31784724delins32" "553-kb deletion from WRN to intron 1 NRG" "Germline" "" "" "0" "" "" "g.31112175_31665181delinsCTCACTGCAGCCTCAAACTCCTGGGTTCAAC" "" "pathogenic (recessive)" "" "0000882103" "3" "90" "8" "30900017" "30959496" "dup" "0" "00006" "WRN_000115" "g.(30898469_30900017)_(30959496_30962693)dup" "" "{PMID:Friedrich 2010:20443122}" "" "hg18 g.(31018011_31019559)_(31079038_31082235)dup" "60 Kb duplication ex2-18" "Germline" "" "" "0" "" "" "g.(31040953_31042501)_(31101980_31105177)dup" "" "pathogenic (recessive)" "" "0000882110" "3" "90" "8" "30999982" "30999982" "subst" "0" "00006" "WRN_000116" "g.30999982A>G" "" "{PMID:Friedrich 2010:20443122}" "" "3234-160A>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000882112" "1" "90" "8" "30938708" "30938708" "del" "0" "00006" "WRN_000117" "g.30938708del" "" "{PMID:Huang 2006:16673358}" "" "1165delA" "" "Germline" "" "" "0" "" "" "g.31081192del" "" "pathogenic (recessive)" "" "0000882113" "2" "90" "8" "30922429" "30922429" "subst" "4.06593E-6" "00006" "WRN_000118" "g.30922429A>C" "" "{PMID:Huang 2006:16673358}, {PMID:Friedrich 2010:20443122}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000882114" "1" "90" "8" "30982072" "30982072" "subst" "2.84687E-5" "00006" "WRN_000071" "g.30982072C>T" "" "{PMID:Friedrich 2010:20443122}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000882115" "2" "30" "8" "30973957" "30973957" "subst" "0.452872" "00006" "WRN_000022" "g.30973957G>T" "" "{PMID:Friedrich 2010:20443122}" "" "" "allele not expressed (deleted in RNA)" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000882116" "2" "90" "8" "30969470" "30969470" "subst" "0" "00006" "WRN_000119" "g.30969470A>G" "" "{PMID:Friedrich 2010:20443122}, {PMID:Miller 2022:35534204}" "" "" "unclear whether this variant causes exon skipping" "Germline" "" "" "0" "" "" "g.31111954A>G" "" "pathogenic (recessive)" "" "0000882118" "1" "90" "8" "30958364" "30958364" "subst" "4.06405E-6" "00006" "WRN_000120" "g.30958364G>A" "" "{PMID:Friedrich 2010:20443122}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000882119" "2" "70" "8" "30948048" "30948048" "subst" "0" "00006" "WRN_000121" "g.30948048G>A" "" "{PMID:Friedrich 2010:20443122}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000882120" "0" "90" "8" "30948048" "30948048" "subst" "0" "00006" "WRN_000121" "g.30948048G>A" "" "{PMID:Tadokoro 2013:23583337}" "" "" "in vitro analysis shows inhibited ATP binding leading to significant decrease in helicase activity, exonuclease activity not significantly affected, single strand DNA annealing activity increased" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000882122" "1" "90" "8" "31007874" "31007874" "del" "0" "00006" "WRN_000122" "g.31007874del" "" "{PMID:Friedrich 2010:20443122}" "" "3590delA" "" "Germline" "" "" "0" "" "" "g.31150358del" "" "pathogenic (recessive)" "" "0000882123" "2" "70" "8" "31024604" "31024604" "subst" "0" "00006" "WRN_000123" "g.31024604T>G" "" "{PMID:Friedrich 2010:20443122}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000882130" "1" "90" "8" "30973963" "30973964" "del" "0" "00006" "WRN_000124" "g.30973963_30973964del" "" "{PMID:Miller 2022:35534204}" "" "2367_2368delAT" "" "Germline" "" "" "0" "" "" "g.31116447_31116448del" "" "pathogenic (recessive)" "" "0000882131" "2" "90" "8" "30935112" "30935112" "subst" "0" "00006" "WRN_000125" "g.30935112T>G" "" "{PMID:Miller 2022:35534204}" "" "" "effect on RNA predicted from in vitro pSPL3 exon trapping" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000882132" "1" "90" "8" "30924605" "30924605" "subst" "3.6572E-5" "00006" "WRN_000102" "g.30924605A>G" "" "{PMID:Miller 2022:35534204}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000882133" "2" "90" "8" "30993338" "31332051" "delins" "0" "00006" "WRN_000126" "g.30993338_31332051delinsTCT" "" "{PMID:Miller 2022:35534204}" "" "" "339 Kb deletion; on Western blot no WRN protein" "Germline" "" "" "0" "" "" "g.31135822_31474535delinsTCT" "" "pathogenic (recessive)" "" "0000882134" "11" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Yokote 2017:27667302}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000882135" "21" "90" "8" "30999972" "30999972" "subst" "0" "00006" "WRN_000116" "g.30999972A>G" "" "{PMID:Miller 2022:35534204}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000882136" "11" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Yokote 2017:27667302}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000882137" "21" "90" "8" "30999972" "30999972" "subst" "0" "00006" "WRN_000116" "g.30999972A>G" "" "{PMID:Miller 2022:35534204}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000882138" "1" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Miller 2022:35534204}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000882139" "2" "90" "8" "30958068" "30958068" "subst" "0" "00006" "WRN_000128" "g.30958068A>G" "" "{PMID:Miller 2022:35534204}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000882140" "1" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Miller 2022:35534204}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000882141" "2" "90" "8" "30958068" "30958068" "subst" "0" "00006" "WRN_000128" "g.30958068A>G" "" "{PMID:Miller 2022:35534204}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000882142" "0" "10" "8" "30938848" "30938848" "subst" "0.000690471" "00006" "WRN_000129" "g.30938848A>G" "" "{PMID:Miller 2022:35534204}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000882143" "1" "90" "8" "30982464" "30982464" "del" "0" "00006" "WRN_000130" "g.30982464del" "" "{PMID:Bennett 1997:9230208}" "" "2773delG" "" "Germline" "" "" "0" "" "" "g.31124948del" "" "pathogenic (recessive)" "" "0000882144" "2" "90" "8" "31015025" "31015025" "subst" "0" "00006" "WRN_000131" "g.31015025C>T" "" "{PMID:Miller 2022:35534204}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000882145" "1" "90" "8" "30938708" "30938708" "del" "0" "00006" "WRN_000117" "g.30938708del" "" "{PMID:Yu 1997:9012406}" "" "1165delA" "" "Germline" "" "" "0" "" "" "g.31081192del" "" "pathogenic (recessive)" "" "0000882146" "2" "90" "8" "30969145" "30969146" "del" "0" "00006" "WRN_000132" "g.30969145_30969146del" "" "{PMID:Miller 2022:35534204}" "" "2103_2104delAC" "" "Germline" "" "" "0" "" "" "g.31111629_31111630del" "" "pathogenic (recessive)" "" "0000888327" "0" "90" "8" "30938555" "30938561" "del" "0" "02325" "WRN_000143" "g.30938555_30938561del" "" "" "" "WRN(NM_000553.6):c.1012_1018delGTTTTAA (p.V338Ffs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888328" "0" "90" "8" "30969263" "30969263" "subst" "8.12559E-6" "02325" "WRN_000171" "g.30969263C>T" "" "" "" "WRN(NM_000553.6):c.2221C>T (p.R741*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000896393" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896394" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896395" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896396" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896397" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896398" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896399" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896400" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896401" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896402" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896403" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896404" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896405" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896406" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896407" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896408" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896409" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896410" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896411" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896412" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896413" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896414" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896415" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896416" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896417" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896418" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Matsumoto 1997:9225981}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896421" "0" "10" "8" "30921935" "30921935" "subst" "0.0581057" "00006" "WRN_000042" "g.30921935G>A" "1/18 cases WRN" "{PMID:Uhrhammer 2006:16786514}" "" "" "" "Germline" "" "" "0" "" "" "g.31064419G>A" "" "benign" "" "0000896422" "0" "10" "8" "30924557" "30924557" "subst" "0.712819" "00006" "WRN_000005" "g.30924557C>T" "3/18 cases WRN (C>T)" "{PMID:Uhrhammer 2006:16786514}" "" "512T>C" "" "Germline" "" "" "0" "" "" "g.31067041C>T" "" "benign" "" "0000896423" "0" "10" "8" "30925803" "30925803" "subst" "0" "00006" "WRN_000139" "g.30925803G>A" "1/18 cases WRN" "{PMID:Uhrhammer 2006:16786514}" "" "Asn228 (silent)" "" "Germline" "" "" "0" "" "" "g.31068287G>A" "" "benign" "" "0000896424" "0" "10" "8" "30933707" "30933707" "subst" "0" "00006" "WRN_000141" "g.30933707G>T" "5/18 cases WRN" "{PMID:Uhrhammer 2006:16786514}" "" "" "" "Germline" "" "" "0" "" "" "g.31076191G>T" "" "benign" "" "0000896425" "0" "10" "8" "30933828" "30933828" "del" "0" "00006" "WRN_000008" "g.30933828del" "2/18 cases WRN" "{PMID:Uhrhammer 2006:16786514}" "" "839+14delT" "" "Germline" "" "" "0" "" "" "g.31076312del" "" "benign" "" "0000896426" "0" "10" "8" "30938513" "30938513" "subst" "0.00355117" "00006" "WRN_000009" "g.30938513A>G" "1/18 cases WRN" "{PMID:Uhrhammer 2006:16786514}" "" "" "" "Germline" "" "" "0" "" "" "g.31080997A>G" "" "benign" "" "0000896427" "0" "10" "8" "30938704" "30938704" "subst" "0.0756188" "00006" "WRN_000047" "g.30938704G>A" "4/18 cases WRN" "{PMID:Uhrhammer 2006:16786514}" "" "" "" "Germline" "" "" "0" "" "" "g.31081188G>A" "" "benign" "" "0000896428" "0" "10" "8" "30945289" "30945289" "subst" "0" "00006" "WRN_000149" "g.30945289C>A" "1/18 cases WRN" "{PMID:Uhrhammer 2006:16786514}" "" "1433-3C>A" "incl. 1 homozygous case" "Germline" "" "" "0" "" "" "g.31087773C>A" "" "benign" "" "0000896429" "0" "10" "8" "30948375" "30948375" "subst" "0" "00006" "WRN_000157" "g.30948375G>T" "3/18 cases WRN" "{PMID:Uhrhammer 2006:16786514}" "" "1717+25A>T" "incl. 2 homozygous cases" "Germline" "" "" "0" "" "" "g.31090859G>T" "" "benign" "" "0000896430" "0" "10" "8" "30958423" "30958423" "subst" "0" "00006" "WRN_000163" "g.30958423T>C" "3/18 cases WRN" "{PMID:Uhrhammer 2006:16786514}" "" "" "" "Germline" "" "" "0" "" "" "g.31100907T>C" "" "benign" "" "0000896431" "0" "10" "8" "30973957" "30973957" "subst" "0.452872" "00006" "WRN_000022" "g.30973957G>T" "10/18 cases WRN (T>G)" "{PMID:Uhrhammer 2006:16786514}" "" "2361T>G" "incl. 5 homozygous cases" "Germline" "" "" "0" "" "" "g.31116441G>T" "" "benign" "" "0000896432" "0" "10" "8" "30973828" "30973828" "subst" "0" "00006" "WRN_000173" "g.30973828T>C" "1/18 cases WRN (C>T)" "{PMID:Uhrhammer 2006:16786514}" "" "2274-42C>T" "incl. 1 homozygous case" "Germline" "" "" "0" "" "" "g.31116312T>C" "" "benign" "" "0000896433" "0" "10" "8" "30977830" "30977830" "subst" "0" "00006" "WRN_000177" "g.30977830T>C" "1/18 cases WRN" "{PMID:Uhrhammer 2006:16786514}" "" "" "" "Germline" "" "" "0" "" "" "g.31120314T>C" "" "benign" "" "0000896434" "0" "10" "8" "30977694" "30977694" "subst" "0" "00006" "WRN_000176" "g.30977694G>T" "3/18 cases WRN" "{PMID:Uhrhammer 2006:16786514}" "" "2448-65G>T" "incl. 1 homozygous case" "Germline" "" "" "0" "" "" "g.31120178G>T" "" "benign" "" "0000896435" "0" "10" "8" "30989816" "30989816" "del" "0" "00006" "WRN_000181" "g.30989816del" "2/18 cases WRN" "{PMID:Uhrhammer 2006:16786514}" "" "2826-65delG" "" "Germline" "" "" "0" "" "" "g.31132300del" "" "benign" "" "0000896436" "0" "10" "8" "30999280" "30999280" "subst" "0.453173" "00006" "WRN_000028" "g.30999280G>T" "8/18 cases WRN (T>G)" "{PMID:Uhrhammer 2006:16786514}" "" "3222T>G" "incl. 3 homozygous cases" "Germline" "" "" "0" "" "" "g.31141764G>T" "" "benign" "" "0000896437" "0" "10" "8" "31000243" "31000243" "subst" "0.393837" "00006" "WRN_000193" "g.31000243T>C" "2/18 cases WRN (C>T)" "{PMID:Uhrhammer 2006:16786514}" "" "3309+26C>T" "" "Germline" "" "" "0" "" "" "g.31142727T>C" "" "benign" "" "0000896438" "0" "10" "8" "31014787" "31014787" "subst" "0" "00006" "WRN_000204" "g.31014787C>T" "1/18 cases WRN" "{PMID:Uhrhammer 2006:16786514}" "" "" "" "Germline" "" "" "0" "" "" "g.31157271C>T" "" "benign" "" "0000896439" "0" "10" "8" "31024638" "31024638" "subst" "0.297458" "00006" "WRN_000056" "g.31024638C>T" "4/18 cases WRN" "{PMID:Uhrhammer 2006:16786514}" "" "" "incl. 1 homozygous case" "Germline" "" "" "0" "" "" "g.31167122C>T" "" "benign" "" "0000896440" "0" "10" "8" "31024654" "31024654" "subst" "0.238656" "00006" "WRN_000041" "g.31024654T>C" "5/18 cases WRN" "{PMID:Uhrhammer 2006:16786514}" "" "" "incl. 1 homozygous case" "Germline" "" "" "0" "" "" "g.31167138T>C" "" "benign" "" "0000896748" "3" "90" "8" "30922450" "30922450" "subst" "0" "00006" "WRN_000134" "g.30922450A>T" "" "{PMID:Huang 2006:16673358}" "" "" "" "Germline" "" "" "0" "" "" "g.31064934A>T" "" "pathogenic" "" "0000896749" "3" "90" "8" "30922562" "30922564" "delins" "0" "00006" "WRN_000137" "g.30922562_30922564delinsC" "" "{PMID:Huang 2006:16673358}" "" "487_489delGATinsC" "" "Germline" "" "" "0" "" "" "g.31065046_31065048delinsC" "" "pathogenic (recessive)" "" "0000896750" "3" "90" "8" "30922577" "30922578" "del" "0" "00006" "WRN_000091" "g.30922577_30922578del" "" "{PMID:Matsumoto 1997:9225981}" "" "502_503delAA" "" "Germline" "" "" "0" "" "" "g.31065061_31065062del" "" "pathogenic (recessive)" "" "0000896751" "1" "90" "8" "30924605" "30924605" "subst" "3.6572E-5" "00006" "WRN_000102" "g.30924605A>G" "" "{PMID:Yokote 2017:27667302}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.31067089A>G" "" "pathogenic" "" "0000896752" "3" "90" "8" "30925773" "30925773" "subst" "0" "00006" "WRN_000138" "g.30925773G>A" "" "{PMID:Huang 2006:16673358}" "" "" "" "Germline" "" "" "0" "" "" "g.31068257G>A" "" "pathogenic (recessive)" "" "0000896753" "3" "90" "8" "30925843" "30925843" "subst" "4.16341E-6" "00006" "WRN_000046" "g.30925843G>C" "" "{PMID:Yokote 2017:27667302}" "" "" "" "Germline" "" "" "0" "" "" "g.31068327G>C" "" "pathogenic (recessive)" "" "0000896754" "1" "90" "8" "30925844" "30925844" "subst" "0" "00006" "WRN_000140" "g.30925844G>T" "" "{PMID:Friedrich 2010:20443122}" "" "" "" "Germline" "" "" "0" "" "" "g.31068328G>T" "" "pathogenic (recessive)" "" "0000896755" "3" "90" "8" "30938410" "30938417" "del" "0" "00006" "WRN_000142" "g.30938410_30938417del" "" "{PMID:Huang 2006:16673358}" "" "867_874delAGAAAATC" "" "Germline" "" "" "0" "" "" "g.31080894_31080901del" "" "pathogenic (recessive)" "" "0000896756" "2" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Friedrich 2010:20443122}" "" "" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896757" "3" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Yu 1997:9012406}" "" "" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896758" "3" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Yu 1997:9012406}" "" "" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896759" "3" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Friedrich 2010:20443122}" "" "" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896760" "2" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Yokote 2017:27667302}" "" "" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896761" "3" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Yokote 2017:27667302}" "" "" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896762" "2" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Friedrich 2010:20443122}" "" "" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896763" "3" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Friedrich 2010:20443122}" "" "" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896764" "1" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Yu 1997:9012406}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic" "" "0000896765" "1" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Yu 1997:9012406}" "" "" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896766" "2" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Friedrich 2010:20443122}" "" "" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896767" "2" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Friedrich 2010:20443122}" "" "" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896768" "3" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Yu 1997:9012406}" "" "" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896769" "2" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Yokote 2017:27667302}" "" "" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896770" "2" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Friedrich 2010:20443122}" "" "" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896771" "3" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Friedrich 2010:20443122}" "" "" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896772" "3" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Oshima 1996:8968742}, {PMID:Yu 1997:9012406}" "" "1336G>A" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896773" "3" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Oshima 1996:8968742}" "" "1336G>A" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896774" "3" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Yokote 2017:27667302}" "" "" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896775" "3" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Yokote 2017:27667302}" "" "" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896776" "3" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Yokote 2017:27667302}" "" "" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896777" "3" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Oshima 1996:8968742}, {PMID:Yu 1997:9012406}" "" "1336G>A" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896778" "3" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Friedrich 2010:20443122}" "" "" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896779" "1" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Yokote 2017:27667302}" "" "" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896780" "3" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Yokote 2017:27667302}" "" "" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896781" "3" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Yokote 2017:27667302}" "" "" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896782" "3" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Friedrich 2010:20443122}" "" "" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896783" "3" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Friedrich 2010:20443122}" "" "" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896784" "1" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Yokote 2017:27667302}" "" "" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896785" "1" "90" "8" "30938666" "30938667" "delins" "0" "00006" "WRN_000144" "g.30938666_30938667delinsC" "" "{PMID:Huang 2006:16673358}" "" "1123_1124delGAinsC" "" "Germline" "" "" "0" "" "" "g.31081150_31081151delinsC" "" "pathogenic (recessive)" "" "0000896786" "1" "90" "8" "30938795" "30938798" "del" "0" "00006" "WRN_000145" "g.30938795_30938798del" "" "{PMID:Huang 2006:16673358}" "" "1250_1253delTTGC" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.31081279_31081282del" "" "pathogenic" "" "0000896787" "3" "90" "8" "30941220" "30941223" "dup" "0" "00006" "WRN_000146" "g.30941220_30941223dup" "" "{PMID:Oshima 1996:8968742}" "" "1509_1520insATCT" "" "Germline" "" "" "0" "" "" "g.31083704_31083707dup" "" "pathogenic (recessive)" "" "0000896788" "3" "90" "8" "30942720" "30942720" "subst" "0" "00006" "WRN_000148" "g.30942720T>A" "" "{PMID:Matsumoto 1997:9225981}" "" "mut9 1620T>A" "" "Germline" "" "" "0" "" "" "g.31085204T>A" "" "pathogenic (recessive)" "" "0000896789" "3" "90" "8" "30945322" "30945322" "subst" "0" "00006" "WRN_000150" "g.30945322G>T" "" "{PMID:Huang 2006:16673358}" "" "" "" "Germline" "" "" "0" "" "" "g.31087806G>T" "" "pathogenic (recessive)" "" "0000896790" "1" "90" "8" "30945346" "30945346" "subst" "8.14571E-6" "00006" "WRN_000151" "g.30945346A>T" "" "{PMID:Huang 2006:16673358}" "" "" "" "Germline" "" "" "0" "" "" "g.31087830A>T" "" "pathogenic (recessive)" "" "0000896791" "3" "90" "8" "30945346" "30945349" "del" "0" "00006" "WRN_000152" "g.30945346_30945349del" "" "{PMID:Huang 2006:16673358}" "" "1486_1489delAAAA" "" "Germline" "" "" "0" "" "" "g.31087830_31087833del" "" "pathogenic (recessive)" "" "0000896792" "2" "90" "8" "30946407" "30946407" "del" "3.31774E-5" "00006" "WRN_000153" "g.30946407del" "" "{PMID:Yokote 2017:27667302}" "" "1578delC" "" "Germline" "" "" "0" "" "" "g.31088891del" "" "pathogenic (recessive)" "" "0000896793" "1" "90" "8" "30946415" "30946415" "subst" "0" "00006" "WRN_000154" "g.30946415G>A" "" "{PMID:Friedrich 2010:20443122}" "" "" "" "Germline" "" "" "0" "" "" "g.31088899G>A" "" "pathogenic (recessive)" "" "0000896794" "1" "90" "8" "30948002" "30948005" "del" "0" "00006" "WRN_000155" "g.30948002_30948005del" "" "{PMID:Huang 2006:16673358}" "" "1674_1677delTTCA" "" "Germline" "" "" "0" "" "" "g.31090486_31090489del" "" "pathogenic (recessive)" "" "0000896795" "1" "90" "8" "30948049" "30948049" "subst" "0" "00006" "WRN_000156" "g.30948049G>A" "" "{PMID:Yokote 2017:27667302}" "" "" "" "Germline" "" "" "0" "" "" "g.31090533G>A" "" "pathogenic (recessive)" "" "0000896796" "1" "90" "8" "30948430" "30948431" "del" "0" "00006" "WRN_000158" "g.30948430_30948431del" "" "{PMID:Huang 2006:16673358}" "" "1799_1800delCT" "" "Germline" "" "" "0" "" "" "g.31090914_31090915del" "" "pathogenic (recessive)" "" "0000896797" "3" "90" "8" "30948460" "30948460" "subst" "0" "00006" "WRN_000159" "g.30948460T>G" "" "{PMID:Friedrich 2010:20443122}" "" "" "" "Germline" "" "" "0" "" "" "g.31090944T>G" "" "pathogenic (recessive)" "" "0000896798" "2" "90" "8" "30954281" "30954281" "subst" "0" "00006" "WRN_000160" "g.30954281C>G" "" "{PMID:Yokote 2017:27667302}" "" "" "" "Germline" "" "" "0" "" "" "g.31096765C>G" "" "pathogenic (recessive)" "" "0000896799" "1" "90" "8" "30958386" "30958387" "del" "0" "00006" "WRN_000162" "g.30958386_30958387del" "" "{PMID:Uhrhammer 2006:16786514}" "" "2003delAC (D668fs)" "" "Germline" "" "" "0" "" "" "g.31100870_31100871del" "" "pathogenic (recessive)" "" "0000896800" "2" "90" "8" "30938708" "30938708" "del" "0" "00006" "WRN_000117" "g.30938708del" "" "{PMID:Yokote 2017:27667302}" "" "1165delA" "" "Germline" "" "" "0" "" "" "g.31081192del" "" "pathogenic (recessive)" "" "0000896801" "3" "90" "8" "30969284" "30969284" "subst" "0" "00006" "WRN_000172" "g.30969284C>T" "" "{PMID:Choi 2001:11292662}" "" "" "" "Germline" "" "" "0" "" "" "g.31111768C>T" "" "pathogenic (recessive)" "" "0000896802" "3" "90" "8" "30974045" "30974045" "subst" "0" "00006" "WRN_000175" "g.30974045G>T" "" "{PMID:Yu 1997:9012406}" "" "" "" "Germline" "" "" "0" "" "" "g.31116529G>T" "" "pathogenic (recessive)" "" "0000896803" "3" "90" "8" "30974045" "30974045" "subst" "0" "00006" "WRN_000175" "g.30974045G>T" "" "{PMID:Yu 1997:9012406}" "" "" "" "Germline" "" "" "0" "" "" "g.31116529G>T" "" "pathogenic (recessive)" "" "0000896804" "1" "90" "8" "30973879" "30973879" "subst" "0" "00006" "WRN_000174" "g.30973879G>A" "" "{PMID:Uhrhammer 2006:16786514}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.31116363G>A" "" "pathogenic" "" "0000896805" "3" "90" "8" "30977891" "30977891" "subst" "4.06858E-6" "00006" "WRN_000178" "g.30977891C>T" "" "{PMID:Huang 2006:16673358}" "" "" "" "Germline" "" "" "0" "" "" "g.31120375C>T" "" "pathogenic (recessive)" "" "0000896806" "3" "90" "8" "30977941" "30977941" "subst" "4.11746E-6" "00006" "WRN_000179" "g.30977941G>A" "" "{PMID:Yokote 2017:27667302}" "" "" "" "Germline" "" "" "0" "" "" "g.31120425G>A" "" "pathogenic (recessive)" "" "0000896807" "3" "90" "8" "30977941" "30977941" "subst" "4.11746E-6" "00006" "WRN_000179" "g.30977941G>A" "" "{PMID:Yokote 2017:27667302}" "" "" "" "Germline" "" "" "0" "" "" "g.31120425G>A" "" "pathogenic (recessive)" "" "0000896808" "1" "90" "8" "30982072" "30982072" "subst" "2.84687E-5" "00006" "WRN_000071" "g.30982072C>T" "" "{PMID:Friedrich 2010:20443122}" "" "" "" "Germline" "" "" "0" "" "" "g.31124556C>T" "" "pathogenic (recessive)" "" "0000896809" "3" "90" "8" "30982072" "30982072" "subst" "2.84687E-5" "00006" "WRN_000071" "g.30982072C>T" "" "{PMID:Yu 1997:9012406}" "" "" "" "Germline" "" "" "0" "" "" "g.31124556C>T" "" "pathogenic (recessive)" "" "0000896810" "3" "90" "8" "30982072" "30982072" "subst" "2.84687E-5" "00006" "WRN_000071" "g.30982072C>T" "" "{PMID:Friedrich 2010:20443122}" "" "" "" "Germline" "" "" "0" "" "" "g.31124556C>T" "" "pathogenic (recessive)" "" "0000896811" "1" "90" "8" "30982072" "30982072" "subst" "2.84687E-5" "00006" "WRN_000071" "g.30982072C>T" "" "{PMID:Oshima 1996:8968742}, {PMID:Friedrich 2010:20443122}" "" "2896C>T" "" "Germline" "" "" "0" "" "" "g.31124556C>T" "" "pathogenic (recessive)" "" "0000896812" "1" "90" "8" "30989880" "30989880" "subst" "0" "00006" "WRN_000182" "g.30989880G>C" "" "{PMID:Huang 2006:16673358}" "" "" "" "Germline" "" "" "0" "" "" "g.31132364G>C" "" "pathogenic (recessive)" "" "0000896813" "3" "90" "8" "30989939" "30989939" "subst" "0" "00006" "WRN_000183" "g.30989939C>T" "" "{PMID:Huang 2006:16673358}" "" "" "" "Germline" "" "" "0" "" "" "g.31132423C>T" "" "pathogenic (recessive)" "" "0000896814" "1" "90" "8" "30990014" "30990014" "subst" "1.62561E-5" "00006" "WRN_000184" "g.30990014C>T" "" "{PMID:Huang 2006:16673358}" "" "" "" "Germline" "" "" "0" "" "" "g.31132498C>T" "" "pathogenic (recessive)" "" "0000896815" "3" "90" "8" "30990014" "30990014" "subst" "1.62561E-5" "00006" "WRN_000184" "g.30990014C>T" "" "{PMID:Takada-Watanabe 2012:22188495}" "" "3910C>T" "" "Germline" "" "" "0" "" "" "g.31132498C>T" "" "pathogenic (recessive)" "" "0000896816" "3" "90" "8" "30990023" "30990023" "subst" "0" "00006" "WRN_000185" "g.30990023G>A" "" "{PMID:Friedrich 2010:20443122}" "" "" "" "Germline" "" "" "0" "" "" "g.31132507G>A" "" "pathogenic (recessive)" "" "0000896817" "3" "90" "8" "30998998" "30998998" "del" "0" "00006" "WRN_000186" "g.30998998del" "" "{PMID:Zhao 2008:18205852}" "" "3020delG" "" "Germline" "" "" "0" "" "" "g.31141482del" "" "pathogenic (recessive)" "" "0000896818" "1" "90" "8" "30999108" "30999108" "dup" "0" "00006" "WRN_000190" "g.30999108dup" "" "{PMID:Huang 2006:16673358}" "" "3130dupA" "" "Germline" "" "" "0" "" "" "g.31141592dup" "" "pathogenic (recessive)" "" "0000896819" "3" "90" "8" "30999292" "30999292" "subst" "0" "00006" "WRN_000191" "g.30999292G>C" "" "{PMID:Moser 1999:10220139}" "" "IVS26+1G>C" "" "Germline" "" "" "0" "" "" "g.31141776G>C" "" "pathogenic (recessive)" "" "0000896820" "3" "90" "8" "30999292" "30999292" "subst" "0" "00006" "WRN_000191" "g.30999292G>C" "" "{PMID:Huang 2006:16673358}" "" "" "" "Germline" "" "" "0" "" "" "g.31141776G>C" "" "pathogenic (recessive)" "" "0000896821" "3" "90" "8" "30999292" "30999292" "subst" "0" "00006" "WRN_000191" "g.30999292G>C" "" "{PMID:Huang 2006:16673358}" "" "" "" "Germline" "" "" "0" "" "" "g.31141776G>C" "" "pathogenic (recessive)" "" "0000896822" "1" "90" "8" "31000152" "31000153" "del" "0" "00006" "WRN_000192" "g.31000152_31000153del" "" "{PMID:Uhrhammer 2006:16786514}" "" "3244_3245delGT" "" "Germline" "" "" "0" "" "" "g.31142636_31142637del" "" "pathogenic (recessive)" "" "0000896823" "3" "90" "8" "31001075" "31001075" "subst" "0" "00006" "WRN_000194" "g.31001075G>T" "" "{PMID:Friedrich 2010:20443122}" "" "" "" "Germline" "" "" "0" "" "" "g.31143559G>T" "" "pathogenic (recessive)" "" "0000896824" "2" "90" "8" "31001140" "31001140" "subst" "8.16813E-6" "00006" "WRN_000195" "g.31001140G>T" "" "{PMID:Oshima 1996:8968742}" "" "r.3541_3614del" "" "Germline" "" "" "0" "" "" "g.31143624G>T" "" "pathogenic (recessive)" "" "0000896825" "3" "90" "8" "31004631" "31004631" "del" "0" "00006" "WRN_000196" "g.31004631del" "" "{PMID:Oshima 1996:8968742}" "" "3677delA" "" "Germline" "" "" "0" "" "" "g.31147115del" "" "pathogenic (recessive)" "" "0000896826" "3" "90" "8" "31004873" "31004873" "subst" "1.62472E-5" "00006" "WRN_000197" "g.31004873T>A" "" "{PMID:Matsumoto 1997:9225981}" "" "mut8 IVS29-7T>A" "" "Germline" "" "" "0" "" "" "g.31147357T>A" "" "pathogenic (recessive)" "" "0000896827" "3" "90" "8" "31012219" "31012219" "subst" "0" "00006" "WRN_000202" "g.31012219C>G" "" "{PMID:Agrelo 2015:25830902}" "" "" "" "Germline" "" "" "0" "" "" "g.31154703C>G" "" "pathogenic (recessive)" "" "0000896828" "3" "90" "8" "31012241" "31012241" "subst" "0" "00006" "WRN_000203" "g.31012241C>G" "" "{PMID:Uhrhammer 2006:16786514}" "" "" "" "Germline" "" "" "0" "" "" "g.31154725C>G" "" "pathogenic (recessive)" "" "0000896829" "3" "90" "8" "31014979" "31014979" "dup" "0" "00006" "WRN_000206" "g.31014979dup" "" "{PMID:Goto 1997:9048918}" "" "3915dupA" "" "Germline" "" "" "0" "" "" "g.31157463dup" "" "pathogenic (recessive)" "" "0000896830" "1" "90" "8" "31015025" "31015025" "subst" "0" "00006" "WRN_000131" "g.31015025C>T" "" "{PMID:Friedrich 2010:20443122}" "" "" "" "Germline" "" "" "0" "" "" "g.31157509C>T" "" "pathogenic (recessive)" "" "0000896831" "2" "90" "8" "31024604" "31024604" "subst" "0" "00006" "WRN_000123" "g.31024604T>G" "" "{PMID:Friedrich 2010:20443122}" "" "" "" "Germline" "" "" "0" "" "" "g.31167088T>G" "" "pathogenic (recessive)" "" "0000896832" "3" "90" "8" "31030535" "31030535" "subst" "0.00314727" "00006" "WRN_000058" "g.31030535C>T" "" "{PMID:Yokote 2017:27667302}" "" "" "" "Germline" "" "" "0" "" "" "g.31173019C>T" "" "pathogenic (recessive)" "" "0000896833" "3" "90" "8" "30959122" "30986186" "del" "0" "00006" "WRN_000165" "g.30959122_30986186del" "" "{PMID:Friedrich 2010:20443122}" "" "chr8:g.31,078,664_31,105,734del" "" "Germline" "" "" "0" "" "" "g.31101606_31128670del" "" "pathogenic (recessive)" "" "0000896834" "1" "90" "8" "30999015" "30999016" "del" "0" "00006" "WRN_000188" "g.30999015_30999016del" "" "{PMID:Huang 2006:16673358}" "" "3037_3038delAG" "" "Germline" "" "" "0" "" "" "g.31141499_31141500del" "" "pathogenic (recessive)" "" "0000896835" "3" "90" "8" "31014977" "31014977" "subst" "2.03242E-5" "00006" "WRN_000205" "g.31014977C>T" "" "{PMID:Yu 1996:8602509}, {PMID:Yu 1997:9012406}" "" "" "" "Germline" "" "" "0" "" "" "g.31157461C>T" "" "pathogenic (recessive)" "" "0000896836" "3" "90" "8" "31014977" "31014977" "subst" "2.03242E-5" "00006" "WRN_000205" "g.31014977C>T" "" "{PMID:Yu 1996:8602509}, {PMID:Yu 1997:9012406}" "" "" "" "Germline" "" "" "0" "" "" "g.31157461C>T" "" "pathogenic (recessive)" "" "0000896837" "3" "90" "8" "31014977" "31014977" "subst" "2.03242E-5" "00006" "WRN_000205" "g.31014977C>T" "" "{PMID:Yu 1996:8602509}, {PMID:Yu 1997:9012406}" "" "" "" "Germline" "" "" "0" "" "" "g.31157461C>T" "" "pathogenic (recessive)" "" "0000896838" "3" "90" "8" "31014977" "31014977" "subst" "2.03242E-5" "00006" "WRN_000205" "g.31014977C>T" "" "{PMID:Yu 1996:8602509}, {PMID:Yu 1997:9012406}" "" "mut5 4146dupA" "" "Germline" "" "" "0" "" "" "g.31157461C>T" "" "pathogenic (recessive)" "" "0000896839" "3" "90" "8" "31014977" "31014977" "subst" "2.03242E-5" "00006" "WRN_000205" "g.31014977C>T" "" "{PMID:Friedrich 2010:20443122}" "" "Arg1305TGA mut1" "" "Germline" "" "" "0" "" "" "g.31157461C>T" "" "pathogenic (recessive)" "" "0000896840" "3" "90" "8" "31014977" "31014977" "subst" "2.03242E-5" "00006" "WRN_000205" "g.31014977C>T" "" "{PMID:Yokote 2017:27667302}" "" "" "" "Germline" "" "" "0" "" "" "g.31157461C>T" "" "pathogenic (recessive)" "" "0000896841" "1" "90" "8" "30938708" "30938708" "del" "0" "00006" "WRN_000117" "g.30938708del" "" "{PMID:Oshima 1996:8968742}" "" "1194-1196delA" "" "Germline" "" "" "0" "" "" "g.31081192del" "" "pathogenic (recessive)" "" "0000896842" "3" "90" "8" "30941261" "30941264" "del" "0" "00006" "WRN_000147" "g.30941261_30941264del" "" "{PMID:Friedrich 2010:20443122}" "" "1316_1319delAGAG" "" "Germline" "" "" "0" "" "" "g.31083745_31083748del" "" "pathogenic (recessive)" "" "0000896843" "3" "90" "8" "30941261" "30941264" "del" "0" "00006" "WRN_000147" "g.30941261_30941264del" "" "{PMID:Friedrich 2010:20443122}" "" "1316_1319delAGAG" "" "Germline" "" "" "0" "" "" "g.31083745_31083748del" "" "pathogenic (recessive)" "" "0000896844" "3" "90" "8" "30941261" "30941264" "del" "0" "00006" "WRN_000147" "g.30941261_30941264del" "" "{PMID:Friedrich 2010:20443122}" "" "1316_1319delAGAG" "" "Germline" "" "" "0" "" "" "g.31083745_31083748del" "" "pathogenic (recessive)" "" "0000896845" "3" "90" "8" "30941261" "30941264" "del" "0" "00006" "WRN_000147" "g.30941261_30941264del" "" "{PMID:Friedrich 2010:20443122}" "" "1316_1319delAGAG" "" "Germline" "" "" "0" "" "" "g.31083745_31083748del" "" "pathogenic (recessive)" "" "0000896846" "3" "90" "8" "30966107" "30966107" "subst" "0" "00006" "WRN_000166" "g.30966107A>G" "" "{PMID:Masala 2007:17478382}" "" "" "" "Germline" "" "" "0" "" "" "g.31108591A>G" "" "pathogenic (recessive)" "" "0000896847" "3" "90" "8" "30966107" "30966107" "subst" "0" "00006" "WRN_000166" "g.30966107A>G" "" "{PMID:Masala 2007:17478382}" "" "" "" "Germline" "" "" "0" "" "" "g.31108591A>G" "" "pathogenic (recessive)" "" "0000896848" "3" "90" "8" "30966107" "30966107" "subst" "0" "00006" "WRN_000166" "g.30966107A>G" "" "{PMID:Oshima 1996:8968742}" "" "r.2319_2320ins105" "" "Germline" "" "" "0" "" "" "g.31108591A>G" "" "pathogenic (recessive)" "" "0000896849" "1" "90" "8" "30969145" "30969146" "del" "0" "00006" "WRN_000132" "g.30969145_30969146del" "" "{PMID:Huang 2006:16673358}" "" "2102_2103delCA" "" "Germline" "" "" "0" "" "" "g.31111629_31111630del" "" "pathogenic (recessive)" "" "0000896850" "21" "90" "8" "30969145" "30969146" "del" "0" "00006" "WRN_000132" "g.30969145_30969146del" "" "{PMID:Muller 2005:15888165}" "" "2103_2104delAC" "" "Germline" "" "" "0" "" "" "g.31111629_31111630del" "" "pathogenic (recessive)" "" "0000896851" "3" "90" "8" "30969221" "30969221" "dup" "0" "00006" "WRN_000169" "g.30969221dup" "" "{PMID:Huang 2006:16673358}" "" "2179dupT" "" "Germline" "" "" "0" "" "" "g.31111705dup" "" "pathogenic (recessive)" "" "0000896852" "3" "90" "8" "30969221" "30969221" "dup" "0" "00006" "WRN_000169" "g.30969221dup" "" "{PMID:Huang 2006:16673358}" "" "2179dupT" "" "Germline" "" "" "0" "" "" "g.31111705dup" "" "pathogenic (recessive)" "" "0000896853" "3" "90" "8" "30969221" "30969221" "dup" "0" "00006" "WRN_000169" "g.30969221dup" "" "{PMID:Huang 2006:16673358}" "" "2179dupT" "" "Germline" "" "" "0" "" "" "g.31111705dup" "" "pathogenic (recessive)" "" "0000896854" "3" "90" "8" "30969236" "30969236" "subst" "1.21891E-5" "00006" "WRN_000170" "g.30969236C>T" "" "{PMID:Huang 2006:16673358}" "" "" "" "Germline" "" "" "0" "" "" "g.31111720C>T" "" "pathogenic (recessive)" "" "0000896855" "3" "90" "8" "30969236" "30969236" "subst" "1.21891E-5" "00006" "WRN_000170" "g.30969236C>T" "" "{PMID:Huang 2006:16673358}" "" "" "" "Germline" "" "" "0" "" "" "g.31111720C>T" "" "pathogenic (recessive)" "" "0000896856" "3" "90" "8" "30969236" "30969236" "subst" "1.21891E-5" "00006" "WRN_000170" "g.30969236C>T" "" "{PMID:Huang 2006:16673358}" "" "" "" "Germline" "" "" "0" "" "" "g.31111720C>T" "" "pathogenic (recessive)" "" "0000896857" "3" "90" "8" "30969236" "30969236" "subst" "1.21891E-5" "00006" "WRN_000170" "g.30969236C>T" "" "{PMID:Huang 2006:16673358}" "" "" "" "Germline" "" "" "0" "" "" "g.31111720C>T" "" "pathogenic (recessive)" "" "0000896858" "3" "90" "8" "30969263" "30969263" "subst" "8.12559E-6" "00006" "WRN_000171" "g.30969263C>T" "" "{PMID:Yokote 2017:27667302}" "" "" "" "Germline" "" "" "0" "" "" "g.31111747C>T" "" "pathogenic (recessive)" "" "0000896859" "2" "90" "8" "30999008" "30999011" "del" "0" "00006" "WRN_000187" "g.30999008_30999011del" "" "{PMID:Friedrich 2010:20443122}" "" "3030_3033delAACA" "" "Germline" "" "" "0" "" "" "g.31141492_31141495del" "" "pathogenic (recessive)" "" "0000896860" "3" "90" "8" "30999008" "30999011" "del" "0" "00006" "WRN_000187" "g.30999008_30999011del" "" "{PMID:Friedrich 2010:20443122}" "" "3030_3033delAACA" "" "Germline" "" "" "0" "" "" "g.31141492_31141495del" "" "pathogenic (recessive)" "" "0000896861" "1" "90" "8" "30999008" "30999011" "del" "0" "00006" "WRN_000187" "g.30999008_30999011del" "" "{PMID:Yokote 2017:27667302}" "" "3030_3033delAACA" "" "Germline" "" "" "0" "" "" "g.31141492_31141495del" "" "pathogenic (recessive)" "" "0000896862" "3" "90" "8" "30999015" "30999016" "del" "0" "00006" "WRN_000188" "g.30999015_30999016del" "" "{PMID:Huang 2006:16673358}" "" "3037_3038delAG" "" "Germline" "" "" "0" "" "" "g.31141499_31141500del" "" "pathogenic (recessive)" "" "0000896863" "3" "90" "8" "30999015" "30999016" "del" "0" "00006" "WRN_000188" "g.30999015_30999016del" "" "{PMID:Huang 2006:16673358}" "" "3037_3038delAG" "" "Germline" "" "" "0" "" "" "g.31141499_31141500del" "" "pathogenic (recessive)" "" "0000896864" "2" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Yokote 2017:27667302}" "" "IVS25-1G>C mut4" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896865" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Yokote 2017:27667302}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896866" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Friedrich 2010:20443122}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896867" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Yu 1997:9012406}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896868" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Yu 1997:9012406}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896869" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Yu 1997:9012406}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896870" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Yu 1997:9012406}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896871" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Friedrich 2010:20443122}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896872" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Yu 1997:9012406}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896873" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Yu 1997:9012406}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896874" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Yu 1997:9012406}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896875" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Yu 1997:9012406}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896876" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Yu 1997:9012406}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896877" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Yu 1997:9012406}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896878" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Friedrich 2010:20443122}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896879" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Yu 1997:9012406}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896880" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Friedrich 2010:20443122}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896881" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Yu 1997:9012406}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896882" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Yu 1997:9012406}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896883" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Yu 1997:9012406}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896884" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Yu 1997:9012406}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896885" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Yu 1997:9012406}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896886" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Yu 1997:9012406}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896887" "3" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Friedrich 2010:20443122}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896888" "3" "90" "8" "31004878" "31004878" "subst" "0" "00006" "WRN_000198" "g.31004878A>G" "" "{PMID:Huang 2006:16673358}" "" "" "" "Germline" "" "" "0" "" "" "g.31147362A>G" "" "pathogenic (recessive)" "" "0000896889" "3" "90" "8" "31004878" "31004878" "subst" "0" "00006" "WRN_000198" "g.31004878A>G" "" "{PMID:Friedrich 2010:20443122}" "" "" "" "Germline" "" "" "0" "" "" "g.31147362A>G" "" "pathogenic (recessive)" "" "0000896890" "3" "90" "8" "31004878" "31004878" "subst" "0" "00006" "WRN_000198" "g.31004878A>G" "" "{PMID:Friedrich 2010:20443122}" "" "" "" "Germline" "" "" "0" "" "" "g.31147362A>G" "" "pathogenic (recessive)" "" "0000896891" "3" "90" "8" "31004913" "31004913" "subst" "0" "00006" "WRN_000112" "g.31004913C>T" "" "{PMID:Oshima 1996:8968742}" "" "3724C>T" "" "Germline" "" "" "0" "" "" "g.31147397C>T" "" "pathogenic (recessive)" "" "0000896892" "3" "90" "8" "31004913" "31004913" "subst" "0" "00006" "WRN_000112" "g.31004913C>T" "" "{PMID:Friedrich 2010:20443122}" "" "" "" "Germline" "" "" "0" "" "" "g.31147397C>T" "" "pathogenic (recessive)" "" "0000896893" "3" "90" "8" "31004913" "31004913" "subst" "0" "00006" "WRN_000112" "g.31004913C>T" "" "{PMID:Friedrich 2010:20443122}" "" "" "" "Germline" "" "" "0" "" "" "g.31147397C>T" "" "pathogenic (recessive)" "" "0000896894" "3" "90" "8" "31004913" "31004913" "subst" "0" "00006" "WRN_000112" "g.31004913C>T" "" "{PMID:Yu 1996:8602509}, {PMID:Yu 1997:9012406}" "" "Gln1165TAG mut2" "" "Germline" "" "" "0" "" "" "g.31147397C>T" "" "pathogenic (recessive)" "" "0000896895" "3" "90" "8" "31004913" "31004913" "subst" "0" "00006" "WRN_000112" "g.31004913C>T" "" "{PMID:Oshima 1996:8968742}" "" "3724C>T" "" "Germline" "" "" "0" "" "" "g.31147397C>T" "" "pathogenic (recessive)" "" "0000896896" "1" "90" "8" "31004913" "31004913" "subst" "0" "00006" "WRN_000112" "g.31004913C>T" "" "{PMID:Yokote 2017:27667302}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.31147397C>T" "" "pathogenic (recessive)" "" "0000896897" "3" "90" "8" "31004913" "31004913" "subst" "0" "00006" "WRN_000112" "g.31004913C>T" "" "{PMID:Yokote 2017:27667302}" "" "" "" "Germline" "" "" "0" "" "" "g.31147397C>T" "" "pathogenic (recessive)" "" "0000896898" "2" "90" "8" "31004994" "31004994" "subst" "0" "00006" "WRN_000200" "g.31004994T>A" "" "{PMID:Friedrich 2010:20443122}" "" "r.3691-3803del" "" "Germline" "" "" "0" "" "" "g.31147478T>A" "" "pathogenic (recessive)" "" "0000896899" "3" "90" "8" "31007874" "31007874" "del" "0" "00006" "WRN_000122" "g.31007874del" "" "{PMID:Friedrich 2010:20443122}" "" "3590delA" "" "Germline" "" "" "0" "" "" "g.31150358del" "" "pathogenic (recessive)" "" "0000896900" "3" "90" "8" "31007874" "31007874" "del" "0" "00006" "WRN_000122" "g.31007874del" "" "{PMID:Yokote 2017:27667302}" "" "3590delA" "" "Germline" "" "" "0" "" "" "g.31150358del" "" "pathogenic (recessive)" "" "0000896901" "3" "90" "8" "31012142" "31012145" "del" "0" "00006" "WRN_000201" "g.31012142_31012145del" "" "{PMID:Yu 1996:8602509}, {PMID:Yu 1997:9012406}" "" "mut3 del agAC" "" "Germline" "" "" "0" "" "" "g.31154626_31154629del" "" "pathogenic (recessive)" "" "0000896902" "3" "90" "8" "31012142" "31012145" "del" "0" "00006" "WRN_000201" "g.31012142_31012145del" "" "{PMID:Yu 1996:8602509}, {PMID:Yu 1997:9012406}" "" "mut3 del agAC" "" "Germline" "" "" "0" "" "" "g.31154626_31154629del" "" "pathogenic (recessive)" "" "0000896903" "3" "90" "8" "31012142" "31012145" "del" "0" "00006" "WRN_000201" "g.31012142_31012145del" "" "{PMID:Yu 1996:8602509}, {PMID:Yu 1997:9012406}" "" "3690_3693delACAG" "" "Germline" "" "" "0" "" "" "g.31154626_31154629del" "" "pathogenic (recessive)" "" "0000896904" "3" "90" "8" "31012142" "31012145" "del" "0" "00006" "WRN_000201" "g.31012142_31012145del" "" "{PMID:Oshima 1996:8968742}" "" "mut3 del agAC" "" "Germline" "" "" "0" "" "" "g.31154626_31154629del" "" "pathogenic (recessive)" "" "0000896905" "1" "90" "8" "30916743" "30916743" "subst" "0" "00006" "WRN_000113" "g.30916743C>G" "" "{PMID:Huang 2006:16673358}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.31059227C>G" "" "pathogenic" "" "0000896906" "3" "50" "8" "30938704" "30938704" "subst" "0.0756188" "00006" "WRN_000047" "g.30938704G>A" "" "{PMID:Vidal 1997:10206685}" "" "1392G>A" "" "Germline" "" "" "0" "" "" "g.31081188G>A" "" "VUS" "" "0000896907" "11" "90" "8" "31004994" "31004994" "subst" "0" "00006" "WRN_000200" "g.31004994T>A" "" "{PMID:Meisslitzer 1997:9450180}" "" "IVS30+2T>A" "" "Germline" "" "" "0" "" "" "g.31147478T>A" "" "pathogenic (recessive)" "" "0000896908" "1" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Uhrhammer 2006:16786514}" "" "" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896909" "3" "90" "8" "30938708" "30938708" "del" "0" "00006" "WRN_000117" "g.30938708del" "" "{PMID:Uhrhammer 2006:16786514}" "" "1165delA" "" "Germline" "" "" "0" "" "" "g.31081192del" "" "pathogenic (recessive)" "" "0000896910" "3" "90" "8" "30922429" "30922429" "subst" "4.06593E-6" "00006" "WRN_000118" "g.30922429A>C" "" "{PMID:Uhrhammer 2006:16786514}" "" "" "" "Germline" "" "" "0" "" "" "g.31064913A>C" "" "pathogenic (recessive)" "" "0000896911" "1" "90" "8" "30922549" "30922549" "del" "0" "00006" "WRN_000136" "g.30922549del" "" "{PMID:Uhrhammer 2006:16786514}" "" "474delT" "" "Germline" "" "" "0" "" "" "g.31065033del" "" "pathogenic (recessive)" "" "0000896912" "3" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Uhrhammer 2006:16786514}" "" "" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896913" "3" "90" "8" "30938708" "30938708" "del" "0" "00006" "WRN_000117" "g.30938708del" "" "{PMID:Uhrhammer 2006:16786514}" "" "1165delA" "" "Germline" "" "" "0" "" "" "g.31081192del" "" "pathogenic (recessive)" "" "0000896914" "1" "90" "8" "31004916" "31004916" "subst" "0" "00006" "WRN_000199" "g.31004916A>T" "" "{PMID:Uhrhammer 2006:16786514}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.31147400A>T" "" "pathogenic" "" "0000896915" "3" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Matsumoto 1997:9225981}" "" "mut6 1336C>T" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896916" "3" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Matsumoto 1997:9225981}" "" "mut6 1336C>T" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896917" "3" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Matsumoto 1997:9225981}" "" "mut6 1336C>T" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896918" "3" "90" "8" "31004631" "31004631" "del" "0" "00006" "WRN_000196" "g.31004631del" "" "{PMID:Matsumoto 1997:9225981}" "" "mut7 3677delA" "" "Germline" "" "" "0" "" "" "g.31147115del" "" "pathogenic (recessive)" "" "0000896919" "3" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Matsumoto 1997:9225981}" "" "mut6 1336C>T" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896920" "3" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Matsumoto 1997:9225981}" "" "mut6 1336C>T" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896921" "3" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Matsumoto 1997:9225981}" "" "mut6 1336C>T" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896922" "3" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Matsumoto 1997:9225981}" "" "mut6 1336C>T" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896923" "3" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Matsumoto 1997:9225981}" "" "mut6 1336C>T" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896924" "3" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Matsumoto 1997:9225981}" "" "mut6 1336C>T" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896925" "3" "90" "8" "31012219" "31012219" "subst" "0" "00006" "WRN_000202" "g.31012219C>G" "" "{PMID:Agrelo 2015:25830902}" "" "" "" "Germline" "" "" "0" "" "" "g.31154703C>G" "" "pathogenic (recessive)" "" "0000896926" "3" "50" "8" "30922478" "30922478" "subst" "0" "00006" "WRN_000135" "g.30922478A>G" "" "{PMID:Huang 2006:16673358}" "" "" "" "Germline" "" "" "0" "" "" "g.31064962A>G" "" "VUS" "" "0000896927" "2" "90" "8" "30958438" "30958438" "del" "0" "00006" "WRN_000164" "g.30958438del" "" "{PMID:Friedrich 2010:20443122}" "" "2055delG" "" "Germline" "" "" "0" "" "" "g.31100922del" "" "pathogenic (recessive)" "" "0000896928" "1" "90" "8" "31004994" "31004994" "subst" "0" "00006" "WRN_000200" "g.31004994T>A" "" "{PMID:Friedrich 2010:20443122}" "" "" "" "Germline" "" "" "0" "" "" "g.31147478T>A" "" "pathogenic (recessive)" "" "0000896929" "1" "90" "8" "30938708" "30938708" "del" "0" "00006" "WRN_000117" "g.30938708del" "" "{PMID:Yokote 2017:27667302}" "" "1165delA" "" "Germline" "" "" "0" "" "" "g.31081192del" "" "pathogenic (recessive)" "" "0000896930" "1" "90" "8" "30938708" "30938708" "del" "0" "00006" "WRN_000117" "g.30938708del" "" "{PMID:Friedrich 2010:20443122}" "" "1165delA" "" "Germline" "" "" "0" "" "" "g.31081192del" "" "pathogenic (recessive)" "" "0000896931" "2" "90" "8" "30969130" "30982517" "del" "0" "00006" "WRN_000168" "g.(30958472_30969130)_(30982517_30989880)del" "" "{PMID:Yu 1997:9012406}, {PMID:Friedrich 2010:20443122}" "" "del ex19-23, (2088+1_2089-1)_(2825+1_2826-1)del alu/alu, chr8:g.31,078,664_31,105,734del" "" "Germline" "" "" "0" "" "" "g.(31100956_31111614)_(31125001_31132364)del" "" "pathogenic (recessive)" "" "0000896932" "1" "90" "8" "30969263" "30969263" "subst" "8.12559E-6" "00006" "WRN_000171" "g.30969263C>T" "" "{PMID:Friedrich 2010:20443122}" "" "" "" "Germline" "" "" "0" "" "" "g.31111747C>T" "" "pathogenic (recessive)" "" "0000896933" "1" "90" "8" "30969145" "30969146" "del" "0" "00006" "WRN_000132" "g.30969145_30969146del" "" "{PMID:Friedrich 2010:20443122}" "" "2103_2104delAC" "" "Germline" "" "" "0" "" "" "g.31111629_31111630del" "" "pathogenic (recessive)" "" "0000896934" "1" "90" "8" "30969145" "30969146" "del" "0" "00006" "WRN_000132" "g.30969145_30969146del" "" "{PMID:Yokote 2017:27667302}" "" "2103_2104delAC" "" "Germline" "" "" "0" "" "" "g.31111629_31111630del" "" "pathogenic (recessive)" "" "0000896935" "1" "90" "8" "30999196" "30999196" "subst" "8.12434E-6" "00006" "WRN_000127" "g.30999196G>C" "" "{PMID:Friedrich 2010:20443122}" "" "" "" "Germline" "" "" "0" "" "" "g.31141680G>C" "" "pathogenic (recessive)" "" "0000896936" "2" "90" "8" "30982072" "30982072" "subst" "2.84687E-5" "00006" "WRN_000071" "g.30982072C>T" "" "{PMID:Yokote 2017:27667302}" "" "" "" "Germline" "" "" "0" "" "" "g.31124556C>T" "" "pathogenic (recessive)" "" "0000896937" "2" "90" "8" "30945346" "30945346" "subst" "8.14571E-6" "00006" "WRN_000151" "g.30945346A>T" "" "{PMID:Yokote 2017:27667302}" "" "" "" "Germline" "" "" "0" "" "" "g.31087830A>T" "" "pathogenic (recessive)" "" "0000896938" "2" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Huang 2006:16673358}" "" "" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896939" "2" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Huang 2006:16673358}" "" "" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896940" "1" "90" "8" "30969263" "30969263" "subst" "8.12559E-6" "00006" "WRN_000171" "g.30969263C>T" "" "{PMID:Yokote 2017:27667302}" "" "" "" "Germline" "" "" "0" "" "" "g.31111747C>T" "" "pathogenic (recessive)" "" "0000896941" "2" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Friedrich 2010:20443122}" "" "" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896942" "2" "90" "8" "30999008" "30999011" "del" "0" "00006" "WRN_000187" "g.30999008_30999011del" "" "{PMID:Huang 2006:16673358}" "" "3030_3033delAACA" "" "Germline" "" "" "0" "" "" "g.31141492_31141495del" "" "pathogenic (recessive)" "" "0000896943" "2" "90" "8" "30982463" "30982463" "del" "0" "00006" "WRN_000180" "g.30982463del" "" "{PMID:Yokote 2017:27667302}" "" "c2772delA" "" "Germline" "" "" "0" "" "" "g.31124947del" "" "pathogenic (recessive)" "" "0000896944" "2" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Huang 2006:16673358}" "" "" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896945" "1" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Yu 1997:9012406}" "" "" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896946" "2" "90" "8" "30999068" "31012145" "del" "0" "00006" "WRN_000189" "g.30999068_31012145del" "" "{PMID:Uhrhammer 2006:16786514}" "" "3090_3693del4" "" "Germline" "" "" "0" "" "" "g.31141552_31154629del" "" "pathogenic (recessive)" "" "0000896947" "1" "90" "8" "30969130" "30969130" "subst" "0" "00006" "WRN_000167" "g.30969130G>C" "" "{PMID:Yokote 2017:27667302}" "" "" "" "Germline" "" "" "0" "" "" "g.31111614G>C" "" "pathogenic (recessive)" "" "0000896948" "2" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Friedrich 2010:20443122}" "" "" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896949" "2" "90" "8" "30959122" "30986186" "del" "0" "00006" "WRN_000165" "g.30959122_30986186del" "" "{PMID:Oshima 1996:8968742}, {PMID:Friedrich 2010:20443122}" "" "r.2320_3056del, chr8:g.31,078,664_31,105,734del" "" "Germline" "" "" "0" "" "" "g.31101606_31128670del" "" "pathogenic (recessive)" "" "0000896950" "2" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Huang 2006:16673358}" "" "" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896951" "2" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Huang 2006:16673358}" "" "" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896952" "2" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Huang 2006:16673358}" "" "" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896953" "2" "90" "8" "30954294" "30954294" "subst" "0.000396229" "00006" "WRN_000161" "g.30954294C>T" "" "{PMID:Uhrhammer 2006:16786514}" "" "1909A>T (R637W)" "" "Germline" "" "" "0" "" "" "g.31096778C>T" "" "pathogenic (recessive)" "" "0000896954" "1" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Oshima 1996:8968742}, {PMID:Yu 1997:9012406}" "" "1335G>A" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896955" "2" "90" "8" "30938648" "30938648" "subst" "0.000179118" "00006" "WRN_000010" "g.30938648C>T" "" "{PMID:Friedrich 2010:20443122}" "" "" "" "Germline" "" "" "0" "" "" "g.31081132C>T" "" "pathogenic (recessive)" "" "0000896956" "1" "90" "8" "31007874" "31007874" "del" "0" "00006" "WRN_000122" "g.31007874del" "" "{PMID:Friedrich 2010:20443122}" "" "3590delA" "" "Germline" "" "" "0" "" "" "g.31150358del" "" "pathogenic (recessive)" "" "0000896957" "2" "90" "8" "30969130" "30982517" "del" "0" "00006" "WRN_000168" "g.(30958472_30969130)_(30982517_30989880)del" "" "{PMID:Yu 1997:9012406}" "" "del ex19-23" "" "Germline" "" "" "0" "" "" "g.(31100956_31111614)_(31125001_31132364)del" "" "pathogenic (recessive)" "" "0000896958" "2" "90" "8" "31004994" "31004994" "subst" "0" "00006" "WRN_000200" "g.31004994T>A" "" "{PMID:Oshima 1996:8968742}" "" "" "" "Germline" "" "" "0" "" "" "g.31147478T>A" "" "pathogenic (recessive)" "" "0000896959" "2" "90" "8" "31012142" "31012145" "del" "0" "00006" "WRN_000201" "g.31012142_31012145del" "" "{PMID:Huang 2006:16673358}" "" "" "" "Germline" "" "" "0" "" "" "g.31154626_31154629del" "" "pathogenic (recessive)" "" "0000896960" "11" "90" "8" "30938708" "30938708" "del" "0" "00006" "WRN_000117" "g.30938708del" "" "{PMID:Muller 2005:15888165}" "" "1165delA" "" "Germline" "" "" "0" "" "" "g.31081192del" "" "pathogenic (recessive)" "" "0000896961" "1" "90" "8" "30999015" "30999016" "del" "0" "00006" "WRN_000188" "g.30999015_30999016del" "" "{PMID:Friedrich 2010:20443122}" "" "3037_3038delAG" "" "Germline" "" "" "0" "" "" "g.31141499_31141500del" "" "pathogenic (recessive)" "" "0000896962" "2" "90" "8" "31012142" "31012145" "del" "0" "00006" "WRN_000201" "g.31012142_31012145del" "" "{PMID:Yokote 2017:27667302}" "" "3688_3691delACAG" "" "Germline" "" "" "0" "" "" "g.31154626_31154629del" "" "pathogenic (recessive)" "" "0000896963" "1" "90" "8" "31014977" "31014977" "subst" "2.03242E-5" "00006" "WRN_000205" "g.31014977C>T" "" "{PMID:Yokote 2017:27667302}" "" "" "" "Germline" "" "" "0" "" "" "g.31157461C>T" "" "pathogenic (recessive)" "" "0000896964" "1" "90" "8" "30938708" "30938708" "del" "0" "00006" "WRN_000117" "g.30938708del" "" "{PMID:Friedrich 2010:20443122}" "" "1165delA" "" "Germline" "" "" "0" "" "" "g.31081192del" "" "pathogenic (recessive)" "" "0000896965" "3" "90" "8" "30938708" "30938708" "del" "0" "00006" "WRN_000117" "g.30938708del" "" "{PMID:Vidal 1997:10206685}" "" "1396delA" "" "Germline" "" "" "0" "" "" "g.31081192del" "" "pathogenic (recessive)" "" "0000896966" "21" "10" "8" "30938704" "30938704" "subst" "0.0756188" "00006" "WRN_000047" "g.30938704G>A" "" "{PMID:Meisslitzer 1997:9450180}" "" "1392G>A" "" "Germline" "" "" "0" "" "" "g.31081188G>A" "" "benign" "" "0000896967" "21" "90" "8" "30938708" "30938708" "del" "0" "00006" "WRN_000117" "g.30938708del" "" "{PMID:Meisslitzer 1997:9450180}" "" "1396delA" "" "Germline" "" "" "0" "" "" "g.31081192del" "" "pathogenic (recessive)" "" "0000896968" "11" "10" "8" "30999280" "30999280" "subst" "0.453173" "00006" "WRN_000028" "g.30999280G>T" "" "{PMID:Meisslitzer 1997:9450180}" "" "3453T>G (F1054L)" "" "Germline" "" "" "0" "" "" "g.31141764G>T" "" "benign" "" "0000896969" "2" "90" "8" "30982072" "30982072" "subst" "2.84687E-5" "00006" "WRN_000071" "g.30982072C>T" "" "{PMID:Uhrhammer 2006:16786514}" "" "" "" "Germline" "" "" "0" "" "" "g.31124556C>T" "" "pathogenic (recessive)" "" "0000896970" "2" "90" "8" "30938708" "30938708" "del" "0" "00006" "WRN_000117" "g.30938708del" "" "{PMID:Uhrhammer 2006:16786514}" "" "1165delA" "" "Germline" "" "" "0" "" "" "g.31081192del" "" "pathogenic (recessive)" "" "0000896971" "0" "10" "8" "30924557" "30924557" "subst" "0.712819" "00006" "WRN_000005" "g.30924557C>T" "" "{PMID:Castro 1999:10069711}" "" "744T>C" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000896972" "0" "10" "8" "30938704" "30938704" "subst" "0.0756188" "00006" "WRN_000047" "g.30938704G>A" "" "{PMID:Castro 1999:10069711}" "" "1392G>A" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000896973" "0" "10" "8" "30973957" "30973957" "subst" "0.452872" "00006" "WRN_000022" "g.30973957G>T" "" "{PMID:Castro 1999:10069711}" "" "2592T>G (L787L)" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000896974" "0" "10" "8" "30977770" "30977770" "subst" "0" "00006" "WRN_000133" "g.30977770T>G" "" "{PMID:Castro 1999:10069711}" "" "2691T>G (A820A)" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000896975" "0" "10" "8" "31024638" "31024638" "subst" "0.297458" "00006" "WRN_000056" "g.31024638C>T" "" "{PMID:Castro 1999:10069711}" "" "4314C>T (S1361S)" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000896976" "0" "70" "8" "31024654" "31024654" "subst" "0.238656" "00006" "WRN_000041" "g.31024654T>C" "" "{PMID:Ye 1997:9021029}" "" "4330T>C (C1367R)" "variant associated with myocardial infarction" "Germline" "" "" "0" "" "" "" "" "association" "" "0000896977" "1" "10" "8" "30938704" "30938704" "subst" "0.0756188" "00006" "WRN_000047" "g.30938704G>A" "" "{PMID:Castro 1999:10069711}" "" "1392G>A (M387I)" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000896978" "1" "10" "8" "30938704" "30938704" "subst" "0.0756188" "00006" "WRN_000047" "g.30938704G>A" "" "{PMID:Castro 1999:10069711}" "" "1392G>A (M387I)" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000896979" "1" "10" "8" "30938704" "30938704" "subst" "0.0756188" "00006" "WRN_000047" "g.30938704G>A" "" "{PMID:Castro 1999:10069711}" "" "1392G>A (M387I)" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000896981" "0" "10" "8" "30938513" "30938513" "subst" "0.00355117" "00006" "WRN_000009" "g.30938513A>G" "" "{PMID:Castro 1999:10069711}" "" "1201A>G (T324A)" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000912948" "0" "30" "8" "30938692" "30938692" "subst" "0.0020958" "02326" "WRN_000011" "g.30938692G>T" "" "" "" "WRN(NM_000553.4):c.1149G>T (p.L383F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912949" "0" "30" "8" "30998961" "30998961" "subst" "0.00238854" "02326" "WRN_000073" "g.30998961G>A" "" "" "" "WRN(NM_000553.4):c.2983G>A (p.A995T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000932963" "0" "90" "8" "30982072" "30982072" "subst" "2.84687E-5" "03779" "WRN_000071" "g.30982072C>T" "" "" "" "" "" "Unknown" "" "rs774765029" "0" "" "" "" "" "pathogenic" "" "0000932964" "0" "70" "8" "30922549" "30922549" "del" "0" "03779" "WRN_000136" "g.30922549del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000964984" "0" "30" "8" "30942677" "30942677" "del" "0" "02326" "WRN_000207" "g.30942677del" "" "" "" "WRN(NM_000553.4):c.1351-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000985075" "0" "90" "8" "30941235" "30941238" "del" "0" "03779" "WRN_000208" "g.30941235_30941238del" "" "" "" "" "" "CLASSIFICATION record" "" "rs1389340786" "0" "" "" "" "" "pathogenic" "" "0000997142" "0" "50" "8" "30933786" "30933786" "subst" "0" "02329" "WRN_000209" "g.30933786A>G" "" "" "" "WRN(NM_000553.6):c.822A>G (p.K274=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997143" "0" "50" "8" "31000155" "31000155" "subst" "0" "02329" "WRN_000210" "g.31000155T>C" "" "" "" "WRN(NM_000553.6):c.3247T>C (p.S1083P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014442" "0" "90" "8" "30969221" "30969221" "dup" "0" "02327" "WRN_000169" "g.30969221dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001016681" "0" "90" "8" "30922577" "30922578" "del" "0" "04749" "WRN_000091" "g.30922577_30922578del" "" "Yuen (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.31065061_31065062del" "" "pathogenic" "" "0001016682" "0" "90" "8" "30922577" "30922578" "del" "0" "04749" "WRN_000091" "g.30922577_30922578del" "" "Yuen (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.31065061_31065062del" "" "pathogenic" "" "0001052985" "0" "90" "8" "30938648" "30938648" "subst" "0.000179118" "01804" "WRN_000010" "g.30938648C>T" "" "" "" "WRN(NM_000553.6):c.1105C>T (p.(Arg369Ter), p.R369*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001052986" "0" "90" "8" "30982072" "30982072" "subst" "2.84687E-5" "01804" "WRN_000071" "g.30982072C>T" "" "" "" "WRN(NM_000553.4):c.2665C>T (p.R889*), WRN(NM_000553.6):c.2665C>T (p.(Arg889Ter), p.R889*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## 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 WRN ## Count = 476 "{{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}}" "0000004615" "00001669" "50" "2826" "-1284" "2826" "-1284" "c.2826-1284G>A" "r.(=)" "p.(=)" "" "0000012598" "00001669" "50" "2826" "-1284" "2826" "-1284" "c.2826-1284G>A" "r.(=)" "p.(=)" "" "0000249986" "00001669" "30" "970" "0" "970" "0" "c.970A>G" "r.(?)" "p.(Thr324Ala)" "" "0000250372" "00001669" "30" "95" "0" "95" "0" "c.95A>G" "r.(?)" "p.(Lys32Arg)" "" "0000250443" "00001669" "30" "1899" "-4" "1899" "-4" "c.1899-4A>T" "r.spl?" "p.?" "" "0000250444" "00001669" "30" "1981" "11" "1981" "11" "c.1981+11A>G" "r.(=)" "p.(=)" "" "0000254077" "00001669" "30" "970" "0" "970" "0" "c.970A>G" "r.(?)" "p.(Thr324Ala)" "" "0000254575" "00001669" "30" "2416" "0" "2416" "0" "c.2416A>G" "r.(?)" "p.(Ile806Val)" "" "0000313103" "00001669" "10" "1982" "-5" "1982" "-5" "c.1982-5del" "r.spl?" "p.?" "" "0000313104" "00001669" "10" "2361" "0" "2361" "0" "c.2361G>T" "r.(?)" "p.(Leu787=)" "" "0000313105" "00001669" "10" "3138" "6" "3138" "6" "c.3138+6C>T" "r.(=)" "p.(=)" "" "0000313106" "00001669" "10" "3138" "7" "3138" "7" "c.3138+7G>A" "r.(=)" "p.(=)" "" "0000313107" "00001669" "10" "3222" "0" "3222" "0" "c.3222G>T" "r.(?)" "p.(Leu1074Phe)" "" "0000313108" "00001669" "10" "4099" "0" "4099" "0" "c.4099T>C" "r.(?)" "p.(Cys1367Arg)" "" "0000313109" "00001669" "10" "513" "0" "513" "0" "c.513C>T" "r.(?)" "p.(Cys171=)" "" "0000313715" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "" "0000313716" "00001669" "30" "1504" "0" "1504" "0" "c.1504G>C" "r.(?)" "p.(Gly502Arg)" "" "0000313717" "00001669" "30" "1830" "-3" "1830" "-3" "c.1830-3T>C" "r.spl?" "p.?" "" "0000313718" "00001669" "10" "1899" "-10" "1899" "-10" "c.1899-10G>T" "r.(=)" "p.(=)" "" "0000313719" "00001669" "10" "1899" "-14" "1899" "-14" "c.1899-14G>T" "r.(=)" "p.(=)" "" "0000313720" "00001669" "10" "1899" "-19" "1899" "-19" "c.1899-19C>T" "r.(=)" "p.(=)" "" "0000313722" "00001669" "50" "217" "0" "217" "0" "c.217C>G" "r.(?)" "p.(Leu73Val)" "" "0000313723" "00001669" "50" "2978" "0" "2978" "0" "c.2978G>A" "r.(?)" "p.(Arg993His)" "" "0000313724" "00001669" "10" "3236" "0" "3236" "0" "c.3236C>T" "r.(?)" "p.(Ser1079Leu)" "" "0000313725" "00001669" "30" "3310" "-17" "3310" "-17" "c.3310-17T>C" "r.(=)" "p.(=)" "" "0000313726" "00001669" "30" "3453" "0" "3453" "0" "c.3453G>A" "r.(?)" "p.(Glu1151=)" "" "0000313727" "00001669" "30" "3460" "-17" "3460" "-17" "c.3460-17C>G" "r.(=)" "p.(=)" "" "0000313728" "00001669" "30" "3738" "0" "3738" "0" "c.3738G>A" "r.(?)" "p.(Leu1246=)" "" "0000313729" "00001669" "30" "3785" "0" "3785" "0" "c.3785C>G" "r.(?)" "p.(Thr1262Arg)" "" "0000313730" "00001669" "30" "3875" "0" "3875" "0" "c.3875C>A" "r.(?)" "p.(Ser1292Tyr)" "" "0000313731" "00001669" "30" "3900" "0" "3900" "0" "c.3900C>A" "r.(?)" "p.(Pro1300=)" "" "0000313732" "00001669" "30" "505" "-4" "505" "-4" "c.505-4C>G" "r.spl?" "p.?" "" "0000313734" "00001669" "10" "839" "25" "839" "25" "c.839+25del" "r.(=)" "p.(=)" "" "0000320009" "00001669" "30" "1149" "0" "1149" "0" "c.1149G>T" "r.(?)" "p.(Leu383Phe)" "" "0000320010" "00001669" "30" "1899" "-10" "1899" "-10" "c.1899-10G>T" "r.(=)" "p.(=)" "" "0000320011" "00001669" "50" "2521" "0" "2521" "0" "c.2521G>A" "r.(?)" "p.(Ala841Thr)" "" "0000320012" "00001669" "30" "2595" "0" "2595" "0" "c.2595C>T" "r.(?)" "p.(His865=)" "" "0000320013" "00001669" "30" "3422" "0" "3422" "0" "c.3422C>T" "r.(?)" "p.(Ser1141Leu)" "" "0000320014" "00001669" "30" "3453" "0" "3453" "0" "c.3453G>A" "r.(?)" "p.(Glu1151=)" "" "0000320015" "00001669" "30" "3582" "0" "3582" "0" "c.3582G>T" "r.(?)" "p.(Thr1194=)" "" "0000337675" "00001669" "10" "355" "20" "355" "20" "c.355+20A>T" "r.(=)" "p.(=)" "" "0000337676" "00001669" "90" "504" "1" "504" "1" "c.504+1G>A" "r.spl?" "p.?" "" "0000337677" "00001669" "10" "1577" "-3" "1577" "-3" "c.1577-3C>A" "r.spl?" "p.?" "" "0000337678" "00001669" "90" "1652" "1" "1652" "1" "c.1652+1G>A" "r.spl?" "p.?" "" "0000337680" "00001669" "10" "3138" "6" "3138" "6" "c.3138+6C>T" "r.(=)" "p.(=)" "" "0000337681" "00001669" "10" "3138" "7" "3138" "7" "c.3138+7G>A" "r.(=)" "p.(=)" "" "0000337682" "00001669" "90" "3384" "-1" "3384" "-1" "c.3384-1G>A" "r.spl?" "p.?" "" "0000337683" "00001669" "70" "3572" "19" "3572" "19" "c.3572+19G>A" "r.(=)" "p.(=)" "" "0000339806" "00001669" "10" "513" "0" "513" "0" "c.513C>T" "r.(?)" "p.(Cys171=)" "" "0000339807" "00001669" "10" "2361" "0" "2361" "0" "c.2361G>T" "r.(?)" "p.(Leu787=)" "" "0000339812" "00001669" "10" "4083" "0" "4083" "0" "c.4083C>T" "r.(?)" "p.(Ser1361=)" "" "0000342749" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "" "0000344264" "00001669" "10" "4099" "0" "4099" "0" "c.4099T>C" "r.(?)" "p.(Cys1367Arg)" "" "0000345280" "00001669" "50" "724" "0" "724" "0" "c.724G>C" "r.(?)" "p.(Glu242Gln)" "" "0000345693" "00001669" "50" "3919" "0" "3919" "0" "c.3919G>A" "r.(?)" "p.(Gly1307Ser)" "" "0000346845" "00001669" "10" "3222" "0" "3222" "0" "c.3222G>T" "r.(?)" "p.(Leu1074Phe)" "" "0000347828" "00001669" "10" "1161" "0" "1161" "0" "c.1161G>A" "r.(?)" "p.(Met387Ile)" "" "0000349218" "00001669" "90" "2855" "0" "2855" "0" "c.2855C>G" "r.(?)" "p.(Ser952Ter)" "" "0000349267" "00001669" "10" "3785" "0" "3785" "0" "c.3785C>G" "r.(?)" "p.(Thr1262Arg)" "" "0000349693" "00001669" "90" "435" "0" "435" "0" "c.435G>A" "r.(?)" "p.(Trp145Ter)" "" "0000350250" "00001669" "10" "340" "0" "340" "0" "c.340G>A" "r.(?)" "p.(Val114Ile)" "" "0000534673" "00001669" "30" "95" "0" "95" "0" "c.95A>G" "r.(?)" "p.(Lys32Arg)" "" "0000534674" "00001669" "30" "95" "0" "95" "0" "c.95A>G" "r.(?)" "p.(Lys32Arg)" "" "0000534675" "00001669" "30" "452" "0" "452" "0" "c.452T>A" "r.(?)" "p.(Phe151Tyr)" "" "0000534677" "00001669" "30" "514" "0" "514" "0" "c.514A>C" "r.(?)" "p.(Thr172Pro)" "" "0000534678" "00001669" "10" "839" "25" "839" "25" "c.839+25dup" "r.(=)" "p.(=)" "" "0000534679" "00001669" "50" "1269" "4" "1269" "4" "c.1269+4C>T" "r.spl?" "p.?" "" "0000534680" "00001669" "30" "1504" "0" "1504" "0" "c.1504G>A" "r.(?)" "p.(Gly502Ser)" "" "0000534681" "00001669" "50" "1527" "0" "1532" "0" "c.1527_1532del" "r.(?)" "p.(Glu509_Glu510del)" "" "0000534682" "00001669" "30" "1530" "0" "1530" "0" "c.1530A>T" "r.(?)" "p.(Glu510Asp)" "" "0000534683" "00001669" "10" "1788" "0" "1788" "0" "c.1788T>C" "r.(?)" "p.(Ser596=)" "" "0000534684" "00001669" "30" "1899" "-5" "1899" "-4" "c.1899-5_1899-4insTTAT" "r.spl?" "p.?" "" "0000534686" "00001669" "30" "2067" "0" "2067" "0" "c.2067C>T" "r.(?)" "p.(Ser689=)" "" "0000534687" "00001669" "50" "2131" "0" "2131" "0" "c.2131C>T" "r.(?)" "p.(Arg711Trp)" "" "0000534688" "00001669" "50" "2338" "0" "2338" "0" "c.2338G>A" "r.(?)" "p.(Val780Ile)" "" "0000534689" "00001669" "90" "2665" "0" "2665" "0" "c.2665C>T" "r.(?)" "p.(Arg889Ter)" "" "0000534690" "00001669" "90" "2665" "0" "2665" "0" "c.2665C>T" "r.(?)" "p.(Arg889Ter)" "" "0000534691" "00001669" "30" "2940" "0" "2940" "0" "c.2940G>C" "r.(?)" "p.(Gly980=)" "" "0000534692" "00001669" "30" "2983" "0" "2983" "0" "c.2983G>A" "r.(?)" "p.(Ala995Thr)" "" "0000534693" "00001669" "50" "3559" "0" "3559" "0" "c.3559A>G" "r.(?)" "p.(Met1187Val)" "" "0000534694" "00001669" "50" "3572" "3" "3572" "3" "c.3572+3A>C" "r.spl?" "p.?" "" "0000534695" "00001669" "30" "3738" "0" "3738" "0" "c.3738G>A" "r.(?)" "p.(Leu1246=)" "" "0000534696" "00001669" "50" "3785" "0" "3785" "0" "c.3785C>G" "r.(?)" "p.(Thr1262Arg)" "" "0000534697" "00001669" "30" "3875" "0" "3875" "0" "c.3875C>A" "r.(?)" "p.(Ser1292Tyr)" "" "0000534698" "00001669" "50" "3881" "0" "3881" "0" "c.3881C>T" "r.(?)" "p.(Ala1294Val)" "" "0000534699" "00001669" "50" "4216" "0" "4216" "0" "c.4216C>T" "r.(?)" "p.(Arg1406Ter)" "" "0000578085" "00001669" "50" "4216" "0" "4216" "0" "c.4216C>T" "r.(?)" "p.(Arg1406*)" "" "0000578139" "00001669" "00" "604" "0" "604" "0" "c.604A>T" "r.(?)" "p.(Lys202*)" "" "0000611605" "00001669" "30" "2940" "0" "2940" "0" "c.2940G>C" "r.(?)" "p.(Gly980=)" "" "0000611606" "00001669" "30" "3731" "0" "3731" "0" "c.3731C>T" "r.(?)" "p.(Thr1244Met)" "" "0000611607" "00001669" "30" "3900" "0" "3900" "0" "c.3900C>A" "r.(?)" "p.(Pro1300=)" "" "0000622061" "00001669" "50" "3819" "5" "3819" "5" "c.3819+5G>C" "r.spl?" "p.?" "" "0000652483" "00001669" "30" "-213" "0" "-213" "0" "c.-213G>A" "r.(=)" "p.(=)" "" "0000652484" "00001669" "50" "326" "0" "326" "0" "c.326G>A" "r.(?)" "p.(Cys109Tyr)" "" "0000656081" "00001669" "30" "339" "0" "339" "0" "c.339C>T" "r.(?)" "p.(His113=)" "" "0000663598" "00001669" "50" "3343" "0" "3343" "0" "c.3343T>A" "r.(?)" "p.(Cys1115Ser)" "" "0000670013" "00001669" "30" "-213" "0" "-213" "0" "c.-213G>A" "r.(=)" "p.(=)" "" "0000678378" "00001669" "30" "2078" "0" "2078" "0" "c.2078C>G" "r.(?)" "p.(Ala693Gly)" "" "0000678379" "00001669" "90" "4111" "0" "4111" "0" "c.4111A>T" "r.(?)" "p.(Lys1371Ter)" "" "0000690252" "00001669" "30" "355" "4" "355" "4" "c.355+4G>C" "r.spl?" "p.?" "" "0000690253" "00001669" "30" "703" "0" "703" "0" "c.703C>G" "r.(?)" "p.(Gln235Glu)" "" "0000690254" "00001669" "50" "1937" "0" "1937" "0" "c.1937G>A" "r.(?)" "p.(Cys646Tyr)" "" "0000721960" "00001669" "30" "645" "0" "645" "0" "c.645T>A" "r.(?)" "p.(Thr215=)" "" "0000721961" "00001669" "50" "2338" "0" "2338" "0" "c.2338G>A" "r.(?)" "p.(Val780Ile)" "" "0000721962" "00001669" "50" "2978" "0" "2978" "0" "c.2978G>A" "r.(?)" "p.(Arg993His)" "" "0000803622" "00001669" "50" "1717" "0" "1717" "0" "c.1717A>G" "r.(?)" "p.(Thr573Ala)" "" "0000803623" "00001669" "50" "2563" "0" "2563" "0" "c.2563G>A" "r.(?)" "p.(Ala855Thr)" "" "0000803624" "00001669" "90" "3819" "1" "3819" "1" "c.3819+1G>C" "r.spl?" "p.?" "" "0000803625" "00001669" "30" "3875" "0" "3875" "0" "c.3875C>A" "r.(?)" "p.(Ser1292Tyr)" "" "0000845036" "00001669" "90" "3244" "0" "3244" "0" "c.3244del" "r.(?)" "p.(Val1082TyrfsTer17)" "" "0000845037" "00001669" "50" "502" "0" "503" "0" "c.502_503del" "r.(?)" "p.(Lys168AlafsTer10)" "" "0000845121" "00001669" "90" "742" "0" "742" "0" "c.742A>G" "r.(?)" "p.(Ser248Gly)" "" "0000851905" "00001669" "30" "355" "4" "355" "4" "c.355+4G>C" "r.spl?" "p.?" "" "0000851906" "00001669" "50" "1706" "0" "1706" "0" "c.1706C>T" "r.(?)" "p.(Ala569Val)" "" "0000851907" "00001669" "70" "1899" "-2" "1899" "-2" "c.1899-2A>T" "r.spl?" "p.?" "" "0000861198" "00001669" "10" "1155" "0" "1155" "0" "c.1155G>A" "r.(?)" "p.(Glu385=)" "" "0000873694" "00001669" "70" "205" "0" "205" "0" "c.205dup" "r.(205dup)" "p.(Ile69Asnfs*2)" "" "0000873695" "00001669" "90" "979" "0" "979" "0" "c.979G>T" "r.(979g>u)" "p.(Gly327*)" "" "0000873696" "00001669" "70" "4013" "0" "4013" "0" "c.4013del" "r.(4013del)" "p.(Leu1338*)" "" "0000873697" "00001669" "90" "2604" "0" "2604" "0" "c.2604G>A" "r.(2604g>a)" "p.(Trp868*)" "" "0000873698" "00001669" "70" "4117" "0" "4120" "0" "c.4117_4120dup" "r.(4117_4120dup)" "p.(Cys1374*)" "" "0000881955" "00001669" "90" "561" "0" "561" "0" "c.561A>G" "r.557_654del" "p.Lys187Trpfs*13" "6" "0000881956" "00001669" "10" "96" "26" "96" "26" "c.96+26T>C" "r.=" "p.=" "2i" "0000881957" "00001669" "10" "513" "0" "513" "0" "c.513C>T" "r.513c>u" "p.Cys171=" "6" "0000881958" "00001669" "10" "1161" "0" "1161" "0" "c.1161G>A" "r.1161g>a" "p.Met387Ile" "9" "0000881959" "00001669" "10" "1350" "22" "1350" "22" "c.1350+22T>C" "r.=" "p.=" "10i" "0000881960" "00001669" "10" "1982" "-5" "1982" "-5" "c.1982-5del" "r.=" "p.=" "17i" "0000881961" "00001669" "10" "3138" "6" "3138" "6" "c.3138+6C>T" "r.=" "p.=" "25i" "0000881962" "00001669" "10" "3572" "24" "3572" "24" "c.3572+24dup" "r.=" "p.=" "30i" "0000881963" "00001669" "10" "4083" "0" "4083" "0" "c.4083C>T" "r.4083c>u" "p.Ser1361=" "34" "0000881964" "00001669" "90" "561" "0" "561" "0" "c.561A>G" "r.557_654del" "p.Lys187Trpfs*13" "6" "0000881965" "00001669" "10" "96" "26" "96" "26" "c.96+26T>C" "r.=" "p.=" "2i" "0000881966" "00001669" "10" "513" "0" "513" "0" "c.513C>T" "r.513c>u" "p.Cys171=" "6" "0000881967" "00001669" "10" "1161" "0" "1161" "0" "c.1161G>A" "r.1161g>a" "p.Met387Ile" "9" "0000881968" "00001669" "10" "1350" "22" "1350" "22" "c.1350+22T>C" "r.=" "p.=" "10i" "0000881969" "00001669" "10" "1982" "-5" "1982" "-5" "c.1982-5del" "r.=" "p.=" "17i" "0000881970" "00001669" "10" "3138" "6" "3138" "6" "c.3138+6C>T" "r.=" "p.=" "25i" "0000881971" "00001669" "10" "3572" "24" "3572" "24" "c.3572+24dup" "r.=" "p.=" "30i" "0000881972" "00001669" "10" "4083" "0" "4083" "0" "c.4083C>T" "r.4083c>u" "p.Ser1361=" "34" "0000882011" "00001669" "90" "2855" "0" "2855" "0" "c.2855C>A" "r.2855c>a" "p.Ser952*" "24" "0000882012" "00001669" "10" "96" "26" "96" "26" "c.96+26T>C" "r.=" "p.=" "2i" "0000882014" "00001669" "10" "2449" "-63" "2449" "-63" "c.2449-63A>G" "r.=" "p.=" "20i" "0000882015" "00001669" "10" "2631" "-67" "2631" "-67" "c.2631-67G>T" "r.=" "p.=" "21i" "0000882016" "00001669" "10" "3384" "-126" "3384" "-126" "c.3384-126T>C" "r.=" "p.=" "28i" "0000882017" "00001669" "10" "3384" "-104" "3384" "-104" "c.3384-104T>A" "r.=" "p.=" "28i" "0000882018" "00001669" "10" "1982" "-5" "1982" "-5" "c.1982-5del" "r.=" "p.=" "17i" "0000882019" "00001669" "10" "3138" "6" "3138" "6" "c.3138+6C>T" "r.=" "p.=" "25i" "0000882020" "00001669" "10" "3572" "24" "3572" "24" "c.3572+24dup" "r.=" "p.=" "30i" "0000882021" "00001669" "10" "4099" "0" "4099" "0" "c.4099T>C" "r.4099u>c" "p.Cys1367Arg" "34" "0000882022" "00001669" "90" "4109" "0" "4109" "0" "c.4109del" "r.(?)" "p.(Asn1370Thrfs*23)" "34" "0000882025" "00001669" "90" "3493" "0" "3493" "0" "c.3493C>T" "r.(?)" "p.(Gln1165*)" "30" "0000882089" "00001669" "90" "171" "0" "171" "0" "c.171C>G" "r.(?)" "p.(Tyr57*)" "3" "0000882093" "00001669" "90" "0" "0" "0" "0" "c.2273+376_*659{0}" "r.?" "p.?" "19i_35_" "0000882103" "00001669" "90" "-77" "8528" "2088" "1025" "c.(-77+6980_-77+8528)_(2088+1025_2088+4222)dup" "r.?" "p.?" "1i_18i" "0000882110" "00001669" "90" "3234" "-170" "3234" "-170" "c.3234-170A>G" "r.3233_3234ins3234-169_3234-101" "p.0" "26i" "0000882112" "00001669" "90" "1165" "0" "1165" "0" "c.1165del" "r.1165del" "p.Arg389Glufs*4" "9" "0000882113" "00001669" "90" "356" "-2" "356" "-2" "c.356-2A>C" "r.356_366del" "p.Val119GlyfsTer7" "4i" "0000882114" "00001669" "90" "2665" "0" "2665" "0" "c.2665C>T" "r.2665c>u" "p.Arg889*" "" "0000882115" "00001669" "30" "2361" "0" "2361" "0" "c.2361G>T" "-" "-" "21" "0000882116" "00001669" "90" "2273" "155" "2273" "155" "c.2273+155A>G" "r.2274_2448del" "p.Ser759ValfsTer3" "20i" "0000882118" "00001669" "90" "1982" "-1" "1982" "-1" "c.1982-1G>A" "r.spl" "p.?" "17i" "0000882119" "00001669" "70" "1720" "0" "1720" "0" "c.1720G>A" "r.(?)" "p.(Gly574Arg)" "14" "0000882120" "00001669" "90" "1720" "0" "1720" "0" "c.1720G>A" "-" "p.Gly574Arg" "14" "0000882122" "00001669" "90" "3590" "0" "3590" "0" "c.3590del" "r.(?)" "p.(Asn1197Thrfs*2)" "" "0000882123" "00001669" "70" "4049" "0" "4049" "0" "c.4049T>G" "r.spl?" "p.(Met1350Arg)" "34" "0000882130" "00001669" "90" "2367" "0" "2368" "0" "c.2367_2368del" "r.2367_2368del" "p.Ser790Leufs*11" "20" "0000882131" "00001669" "90" "839" "1309" "839" "1309" "c.839+1309T>G" "r.(839_840ins[893+1139_893+1308;g])" "p.(Arg280SerfsTer9)" "8i" "0000882132" "00001669" "90" "561" "0" "561" "0" "c.561A>G" "r.557_654del" "p.Lys187Trpfs*13" "6" "0000882133" "00001669" "90" "0" "0" "0" "0" "c.2967+3316_*659{0}" "r.0?" "p.0?" "24i_35_" "0000882134" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.1105c>u" "p.Arg369*" "9" "0000882135" "00001669" "90" "3234" "-170" "3234" "-170" "c.3234-170A>G" "r.[3233_3234ins3234-169_3234-101,3233_3234ins3234-169_3234-1]" "p.?" "26i" "0000882136" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.1105c>u" "p.Arg369*" "9" "0000882137" "00001669" "90" "3234" "-170" "3234" "-170" "c.3234-170A>G" "r.[3233_3234ins3234-169_3234-101,3233_3234ins3234-169_3234-1]" "p.?" "26i" "0000882138" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.(3139_3233del)" "p.(Gly1047Phefs*14)" "25i" "0000882139" "00001669" "90" "1982" "-297" "1982" "-297" "c.1982-297A>G" "r.(1981_1982ins[1982-369_1982-298;g])" "p.?" "17i" "0000882140" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.3139_3233del" "p.Gly1047Phefs*14" "25i" "0000882141" "00001669" "90" "1982" "-297" "1982" "-297" "c.1982-297A>G" "r.1981_1982ins[1982-369_1982-298;g]" "p.?" "17i" "0000882142" "00001669" "10" "1269" "36" "1269" "36" "c.1269+36A>G" "r.=" "p.=" "9i" "0000882143" "00001669" "90" "2773" "0" "2773" "0" "c.2773del" "r.2773del" "p.Ala925Profs*49" "23" "0000882144" "00001669" "90" "3961" "0" "3961" "0" "c.3961C>T" "r.(?)" "p.(Arg1321*)" "33" "0000882145" "00001669" "90" "1165" "0" "1165" "0" "c.1165del" "r.1165del" "p.Arg389Glufs*4" "9" "0000882146" "00001669" "90" "2103" "0" "2104" "0" "c.2103_2104del" "r.(?)" "p.(Leu702Tyrfs*29)" "19" "0000888327" "00001669" "90" "1012" "0" "1018" "0" "c.1012_1018del" "r.(?)" "p.(Val338Phefs*15)" "" "0000888328" "00001669" "90" "2221" "0" "2221" "0" "c.2221C>T" "r.(?)" "p.(Arg741*)" "" "0000896393" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.(3139_3233del)" "p.(Gly1047Phefs*14)" "25i" "0000896394" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.(3139_3233del)" "p.(Gly1047Phefs*14)" "25i" "0000896395" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.(3139_3233del)" "p.(Gly1047Phefs*14)" "25i" "0000896396" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.(3139_3233del)" "p.(Gly1047Phefs*14)" "25i" "0000896397" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.(3139_3233del)" "p.(Gly1047Phefs*14)" "25i" "0000896398" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.(3139_3233del)" "p.(Gly1047Phefs*14)" "25i" "0000896399" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.(3139_3233del)" "p.(Gly1047Phefs*14)" "25i" "0000896400" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.(3139_3233del)" "p.(Gly1047Phefs*14)" "25i" "0000896401" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.(3139_3233del)" "p.(Gly1047Phefs*14)" "25i" "0000896402" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.(3139_3233del)" "p.(Gly1047Phefs*14)" "25i" "0000896403" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.(3139_3233del)" "p.(Gly1047Phefs*14)" "25i" "0000896404" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.(3139_3233del)" "p.(Gly1047Phefs*14)" "25i" "0000896405" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.(3139_3233del)" "p.(Gly1047Phefs*14)" "25i" "0000896406" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.(3139_3233del)" "p.(Gly1047Phefs*14)" "25i" "0000896407" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.(3139_3233del)" "p.(Gly1047Phefs*14)" "25i" "0000896408" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.(3139_3233del)" "p.(Gly1047Phefs*14)" "25i" "0000896409" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.(3139_3233del)" "p.(Gly1047Phefs*14)" "25i" "0000896410" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.(3139_3233del)" "p.(Gly1047Phefs*14)" "25i" "0000896411" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.(3139_3233del)" "p.(Gly1047Phefs*14)" "25i" "0000896412" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.(3139_3233del)" "p.(Gly1047Phefs*14)" "25i" "0000896413" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.(3139_3233del)" "p.(Gly1047Phefs*14)" "25i" "0000896414" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.(3139_3233del)" "p.(Gly1047Phefs*14)" "25i" "0000896415" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.(3139_3233del)" "p.(Gly1047Phefs*14)" "25i" "0000896416" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.(3139_3233del)" "p.(Gly1047Phefs*14)" "25i" "0000896417" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.(3139_3233del)" "p.(Gly1047Phefs*14)" "25i" "0000896418" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.(3139_3233del)" "p.(Gly1047Phefs*14)" "25i" "0000896421" "00001669" "10" "340" "0" "340" "0" "c.340G>A" "r.(?)" "p.(Val114Ile)" "" "0000896422" "00001669" "10" "513" "0" "513" "0" "c.513C>T" "r.(?)" "p.(Cys171=)" "" "0000896423" "00001669" "10" "684" "0" "684" "0" "c.684G>A" "r.(?)" "p.(Glu228=)" "" "0000896424" "00001669" "10" "743" "0" "743" "0" "c.743G>T" "r.(?)" "p.(Ser248Ile)" "" "0000896425" "00001669" "10" "839" "25" "839" "25" "c.839+25del" "r.(?)" "p.(=)" "" "0000896426" "00001669" "10" "970" "0" "970" "0" "c.970A>G" "r.(?)" "p.(Thr324Ala)" "" "0000896427" "00001669" "10" "1161" "0" "1161" "0" "c.1161G>A" "r.(?)" "p.(Met387Ile)" "" "0000896428" "00001669" "10" "1432" "-3" "1432" "-3" "c.1432-3C>A" "r.(?)" "p.(=)" "" "0000896429" "00001669" "10" "1721" "25" "1721" "25" "c.1721+25A>T" "r.(?)" "p.(=)" "" "0000896430" "00001669" "10" "2040" "0" "2040" "0" "c.2040T>C" "r.(?)" "p.(Phe680=)" "" "0000896431" "00001669" "10" "2361" "0" "2361" "0" "c.2361G>T" "r.(?)" "p.(Leu787=)" "" "0000896432" "00001669" "10" "2274" "-42" "2274" "-42" "c.2274-42T>C" "r.(?)" "p.(=)" "" "0000896433" "00001669" "10" "2520" "0" "2520" "0" "c.2520T>C" "r.(?)" "p.(Gly840=)" "" "0000896434" "00001669" "10" "2449" "-65" "2449" "-65" "c.2449-65G>T" "r.(?)" "p.(=)" "" "0000896435" "00001669" "10" "2826" "-65" "2826" "-65" "c.2826-65del" "r.(?)" "p.(=)" "" "0000896436" "00001669" "10" "3222" "0" "3222" "0" "c.3222G>T" "r.(?)" "p.(Leu1074Phe)" "" "0000896437" "00001669" "10" "3309" "26" "3309" "26" "c.3309+26T>C" "r.(?)" "p.(=)" "" "0000896438" "00001669" "10" "3820" "-97" "3820" "-97" "c.3820-97C>T" "r.(?)" "p.(=)" "" "0000896439" "00001669" "10" "4083" "0" "4083" "0" "c.4083C>T" "r.(?)" "p.(Ser1361=)" "" "0000896440" "00001669" "10" "4099" "0" "4099" "0" "c.4099T>C" "r.(?)" "p.(Cys1367Arg)" "" "0000896748" "00001669" "90" "375" "0" "375" "0" "c.375A>T" "r.(?)" "p.(Lys125Asn)" "5" "0000896749" "00001669" "90" "487" "0" "489" "0" "c.487_489delinsC" "r.(?)" "p.(Asp163ArgfsTer4)" "5" "0000896750" "00001669" "90" "502" "0" "503" "0" "c.502_503del" "r.(?)" "p.(Lys168AlafsTer10)" "5" "0000896751" "00001669" "90" "561" "0" "561" "0" "c.561A>G" "r.557_654del" "p.Lys187Trpfs*13" "6" "0000896752" "00001669" "90" "655" "-1" "655" "-1" "c.655-1G>A" "r.655_724del" "p.Ala219Argfs*9" "6i" "0000896753" "00001669" "90" "724" "0" "724" "0" "c.724G>C" "r.655_724del" "p.Ala219Argfs*9" "7" "0000896754" "00001669" "90" "724" "1" "724" "1" "c.724+1G>T" "r.655_724del" "p.Ala219Argfs*9" "7i" "0000896755" "00001669" "90" "867" "0" "874" "0" "c.867_874del" "r.(?)" "p.(Glu290IlefsTer12)" "9" "0000896756" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896757" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896758" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896759" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896760" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896761" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896762" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896763" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896764" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896765" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896766" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896767" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896768" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896769" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896770" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896771" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896772" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896773" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896774" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896775" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896776" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896777" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896778" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896779" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896780" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896781" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896782" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896783" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896784" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896785" "00001669" "90" "1123" "0" "1124" "0" "c.1123_1124delinsC" "r.(?)" "p.(Glu375GlnfsTer4)" "9" "0000896786" "00001669" "90" "1252" "0" "1255" "0" "c.1252_1255del" "r.(?)" "p.(Ala418IlefsTer19)" "9" "0000896787" "00001669" "90" "1275" "0" "1278" "0" "c.1275_1278dup" "r.(?)" "p.(Pro427IlefsTer4)" "10" "0000896788" "00001669" "90" "1389" "0" "1389" "0" "c.1389T>A" "r.(?)" "p.(Tyr463Ter)" "11" "0000896789" "00001669" "90" "1462" "0" "1462" "0" "c.1462G>T" "r.(?)" "p.(Glu488Ter)" "12" "0000896790" "00001669" "90" "1486" "0" "1486" "0" "c.1486A>T" "r.(?)" "p.(Lys496Ter)" "12" "0000896791" "00001669" "90" "1486" "0" "1489" "0" "c.1486_1489del" "r.(?)" "p.(Lys496TrpfsTer60)" "12" "0000896792" "00001669" "90" "1578" "0" "1578" "0" "c.1578del" "r.(?)" "p.(Leu528CysfsTer29)" "13" "0000896793" "00001669" "90" "1586" "0" "1586" "0" "c.1586G>A" "r.(?)" "p.(Trp529Ter)" "13" "0000896794" "00001669" "90" "1674" "0" "1677" "0" "c.1674_1677del" "r.(?)" "p.(His558GlnfsTer3)" "14" "0000896795" "00001669" "90" "1720" "1" "1720" "1" "c.1720+1G>A" "r.1653_1720del" "p.Val552Ilefs*36" "14i" "0000896796" "00001669" "90" "1801" "0" "1802" "0" "c.1801_1802del" "r.(?)" "p.(Leu601AspfsTer9)" "15" "0000896797" "00001669" "90" "1829" "2" "1829" "2" "c.1829+2T>G" "r.1721_1829del" "p.Gly574Glufs*19" "15i" "0000896798" "00001669" "90" "1899" "-3" "1899" "-3" "c.1899-3C>G" "r.1898_1899insAG" "p.Gly634Glufs*9" "16i" "0000896799" "00001669" "90" "2003" "0" "2004" "0" "c.2003_2004del" "r.(?)" "p.(Asp668GlyfsTer7)" "18" "0000896800" "00001669" "90" "1165" "0" "1165" "0" "c.1165del" "r.(?)" "p.(Arg389GlufsTer4)" "9" "0000896801" "00001669" "90" "2242" "0" "2242" "0" "c.2242C>T" "r.(?)" "p.(Gln748Ter)" "19" "0000896802" "00001669" "90" "2448" "1" "2448" "1" "c.2448+1G>T" "r.2274_2448del" "p.Ser759Valfs*3" "20i" "0000896803" "00001669" "90" "2448" "1" "2448" "1" "c.2448+1G>T" "r.2274_2448del" "p.Ser759Valfs*3" "20i" "0000896804" "00001669" "90" "2283" "0" "2283" "0" "c.2283G>A" "r.(?)" "p.(Trp761Ter)" "20" "0000896805" "00001669" "90" "2581" "0" "2581" "0" "c.2581C>T" "r.(?)" "p.(Gln861Ter)" "21" "0000896806" "00001669" "90" "2630" "1" "2630" "1" "c.2630+1G>A" "r.2449_2630del" "p.Cys817Alafs*5" "21i" "0000896807" "00001669" "90" "2630" "1" "2630" "1" "c.2630+1G>A" "r.2449_2630del" "p.Cys817Alafs*5" "21i" "0000896808" "00001669" "90" "2665" "0" "2665" "0" "c.2665C>T" "r.(?)" "p.(Arg889Ter)" "22" "0000896809" "00001669" "90" "2665" "0" "2665" "0" "c.2665C>T" "r.(?)" "p.(Arg889Ter)" "22" "0000896810" "00001669" "90" "2665" "0" "2665" "0" "c.2665C>T" "r.(?)" "p.(Arg889Ter)" "22" "0000896811" "00001669" "90" "2665" "0" "2665" "0" "c.2665C>T" "r.(?)" "p.(Arg889Ter)" "9" "0000896812" "00001669" "90" "2826" "-1" "2826" "-1" "c.2826-1G>C" "r.2826_2967del" "p.Leu943Ilefs*33" "23i" "0000896813" "00001669" "90" "2884" "0" "2884" "0" "c.2884C>T" "r.(?)" "p.(Gln962Ter)" "24" "0000896814" "00001669" "90" "2959" "0" "2959" "0" "c.2959C>T" "r.(?)" "p.(Arg987Ter)" "24" "0000896815" "00001669" "90" "2959" "0" "2959" "0" "c.2959C>T" "r.(?)" "p.(Arg987Ter)" "24" "0000896816" "00001669" "90" "2967" "1" "2967" "1" "c.2967+1G>A" "r.2826_2967del" "p.Leu943Ilefs*33" "24i" "0000896817" "00001669" "90" "3020" "0" "3020" "0" "c.3020del" "r.(?)" "p.(Gly1007AlafsTer16)" "25" "0000896818" "00001669" "90" "3130" "0" "3130" "0" "c.3130dup" "r.(?)" "p.(Thr1044AsnfsTer5)" "25" "0000896819" "00001669" "90" "3233" "1" "3233" "1" "c.3233+1G>C" "r.3139_3233del" "p.Gly1047Phefs*14" "26i" "0000896820" "00001669" "90" "3233" "1" "3233" "1" "c.3233+1G>C" "r.3139_3233del" "p.Gly1047Phefs*14" "26i" "0000896821" "00001669" "90" "3233" "1" "3233" "1" "c.3233+1G>C" "r.3139_3233del" "p.Gly1047Phefs*14" "26i" "0000896822" "00001669" "90" "3244" "0" "3245" "0" "c.3244_3245del" "r.(?)" "p.(Val1082IlefsTer10)" "27" "0000896823" "00001669" "90" "3319" "0" "3319" "0" "c.3319G>T" "r.(?)" "p.(Glu1107Ter)" "28" "0000896824" "00001669" "90" "3383" "1" "3383" "1" "c.3383+1G>T" "r.3310_3383del" "p.Ser1104Tyrfs*36" "28i" "0000896825" "00001669" "90" "3446" "0" "3446" "0" "c.3446del" "r.(?)" "p.(Glu1149GlyfsTer13)" "29" "0000896826" "00001669" "90" "3460" "-7" "3460" "-7" "c.3460-7T>A" "r.3459_3460insuucag" "p.Ile1154Phefs*10" "29i" "0000896827" "00001669" "90" "3767" "0" "3767" "0" "c.3767C>G" "r.(?)" "p.(Ser1256Ter)" "32" "0000896828" "00001669" "90" "3789" "0" "3789" "0" "c.3789C>G" "r.(?)" "p.(Tyr1263Ter)" "32" "0000896829" "00001669" "90" "3915" "0" "3915" "0" "c.3915dup" "r.(?)" "p.(Ala1306SerfsTer13)" "33" "0000896830" "00001669" "90" "3961" "0" "3961" "0" "c.3961C>T" "r.(?)" "p.(Arg1321Ter)" "33" "0000896831" "00001669" "90" "4049" "0" "4049" "0" "c.4049T>G" "r.spl" "p.?" "34" "0000896832" "00001669" "90" "4216" "0" "4216" "0" "c.4216C>T" "r.(?)" "p.(Arg1406Ter)" "35" "0000896833" "00001669" "90" "2088" "651" "2825" "3670" "c.2088+651_2825+3670del" "r.?" "p.?" "18i_23i" "0000896834" "00001669" "90" "3037" "0" "3038" "0" "c.3037_3038del" "r.(?)" "p.(Ser1013LeufsTer12)" "25" "0000896835" "00001669" "90" "3913" "0" "3913" "0" "c.3913C>T" "r.(?)" "p.(Arg1305Ter)" "33" "0000896836" "00001669" "90" "3913" "0" "3913" "0" "c.3913C>T" "r.(?)" "p.(Arg1305Ter)" "33" "0000896837" "00001669" "90" "3913" "0" "3913" "0" "c.3913C>T" "r.(?)" "p.(Arg1305Ter)" "33" "0000896838" "00001669" "90" "3913" "0" "3913" "0" "c.3913C>T" "r.(?)" "p.(Arg1305Ter)" "33" "0000896839" "00001669" "90" "3913" "0" "3913" "0" "c.3913C>T" "r.(?)" "p.(Arg1305Ter)" "33" "0000896840" "00001669" "90" "3913" "0" "3913" "0" "c.3913C>T" "r.(?)" "p.(Arg1305Ter)" "33" "0000896841" "00001669" "90" "1165" "0" "1165" "0" "c.1165del" "r.(?)" "p.(Arg389GlufsTer4)" "9" "0000896842" "00001669" "90" "1316" "0" "1319" "0" "c.1316_1319del" "r.(?)" "p.(Glu439ValfsTer5)" "10" "0000896843" "00001669" "90" "1316" "0" "1319" "0" "c.1316_1319del" "r.(?)" "p.(Glu439ValfsTer5)" "10" "0000896844" "00001669" "90" "1316" "0" "1319" "0" "c.1316_1319del" "r.(?)" "p.(Glu439ValfsTer5)" "10" "0000896845" "00001669" "90" "1316" "0" "1319" "0" "c.1316_1319del" "r.(?)" "p.(Glu439ValfsTer5)" "10" "0000896846" "00001669" "90" "2089" "-3024" "2089" "-3024" "c.2089-3024A>G" "r.2088_2089ins2089-3130_2089-3025" "p.Val97PhefsTer13" "18i" "0000896847" "00001669" "90" "2089" "-3024" "2089" "-3024" "c.2089-3024A>G" "r.2088_2089ins2089-3130_2089-3025" "p.Val97PhefsTer13" "18i" "0000896848" "00001669" "90" "2089" "-3024" "2089" "-3024" "c.2089-3024A>G" "r.2088_2089ins2089-3130_2089-3025" "p.Val97PhefsTer13" "18i" "0000896849" "00001669" "90" "2103" "0" "2104" "0" "c.2103_2104del" "r.(?)" "p.(Leu702TyrfsTer29)" "19" "0000896850" "00001669" "90" "2103" "0" "2104" "0" "c.2103_2104del" "r.(?)" "p.(Leu702TyrfsTer29)" "19" "0000896851" "00001669" "90" "2179" "0" "2179" "0" "c.2179dup" "r.(?)" "p.(Cys727LeufsTer5)" "19" "0000896852" "00001669" "90" "2179" "0" "2179" "0" "c.2179dup" "r.(?)" "p.(Cys727LeufsTer5)" "19" "0000896853" "00001669" "90" "2179" "0" "2179" "0" "c.2179dup" "r.(?)" "p.(Cys727LeufsTer5)" "19" "0000896854" "00001669" "90" "2194" "0" "2194" "0" "c.2194C>T" "r.(?)" "p.(Arg732Ter)" "19" "0000896855" "00001669" "90" "2194" "0" "2194" "0" "c.2194C>T" "r.(?)" "p.(Arg732Ter)" "19" "0000896856" "00001669" "90" "2194" "0" "2194" "0" "c.2194C>T" "r.(?)" "p.(Arg732Ter)" "19" "0000896857" "00001669" "90" "2194" "0" "2194" "0" "c.2194C>T" "r.(?)" "p.(Arg732Ter)" "19" "0000896858" "00001669" "90" "2221" "0" "2221" "0" "c.2221C>T" "r.(?)" "p.(Arg741Ter)" "19" "0000896859" "00001669" "90" "3030" "0" "3033" "0" "c.3030_3033del" "r.(?)" "p.(Thr1011ArgfsTer11)" "25" "0000896860" "00001669" "90" "3030" "0" "3033" "0" "c.3030_3033del" "r.(?)" "p.(Thr1011ArgfsTer11)" "25" "0000896861" "00001669" "90" "3030" "0" "3033" "0" "c.3030_3033del" "r.(?)" "p.(Thr1011ArgfsTer11)" "25" "0000896862" "00001669" "90" "3037" "0" "3038" "0" "c.3037_3038del" "r.(?)" "p.(Ser1013LeufsTer12)" "25" "0000896863" "00001669" "90" "3037" "0" "3038" "0" "c.3037_3038del" "r.(?)" "p.(Ser1013LeufsTer12)" "25" "0000896864" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.3139_3233del" "p.Gly1047Phefs*14" "25i" "0000896865" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.3139_3233del" "p.Gly1047Phefs*14" "25i" "0000896866" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.3139_3233del" "p.Gly1047Phefs*14" "25i" "0000896867" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.3139_3233del" "p.Gly1047Phefs*14" "25i" "0000896868" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.3139_3233del" "p.Gly1047Phefs*14" "25i" "0000896869" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.3139_3233del" "p.Gly1047Phefs*14" "25i" "0000896870" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.3139_3233del" "p.Gly1047Phefs*14" "25i" "0000896871" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.3139_3233del" "p.Gly1047Phefs*14" "25i" "0000896872" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.3139_3233del" "p.Gly1047Phefs*14" "25i" "0000896873" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.3139_3233del" "p.Gly1047Phefs*14" "25i" "0000896874" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.3139_3233del" "p.Gly1047Phefs*14" "25i" "0000896875" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.3139_3233del" "p.Gly1047Phefs*14" "25i" "0000896876" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.3139_3233del" "p.Gly1047Phefs*14" "25i" "0000896877" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.3139_3233del" "p.Gly1047Phefs*14" "25i" "0000896878" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.3139_3233del" "p.Gly1047Phefs*14" "25i" "0000896879" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.3139_3233del" "p.Gly1047Phefs*14" "25i" "0000896880" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.3139_3233del" "p.Gly1047Phefs*14" "25i" "0000896881" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.3139_3233del" "p.Gly1047Phefs*14" "25i" "0000896882" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.3139_3233del" "p.Gly1047Phefs*14" "25i" "0000896883" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.3139_3233del" "p.Gly1047Phefs*14" "25i" "0000896884" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.3139_3233del" "p.Gly1047Phefs*14" "25i" "0000896885" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.3139_3233del" "p.Gly1047Phefs*14" "25i" "0000896886" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.3139_3233del" "p.Gly1047Phefs*14" "25i" "0000896887" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.3139_3233del" "p.Gly1047Phefs*14" "25i" "0000896888" "00001669" "90" "3460" "-2" "3460" "-2" "c.3460-2A>G" "r.3460_3572del" "p.Ile1154Thrfs*5" "29i" "0000896889" "00001669" "90" "3460" "-2" "3460" "-2" "c.3460-2A>G" "r.3460_3572del" "p.Ile1154Thrfs*5" "29i" "0000896890" "00001669" "90" "3460" "-2" "3460" "-2" "c.3460-2A>G" "r.3460_3572del" "p.Ile1154Thrfs*5" "29i" "0000896891" "00001669" "90" "3493" "0" "3493" "0" "c.3493C>T" "r.(?)" "p.(Gln1165Ter)" "30" "0000896892" "00001669" "90" "3493" "0" "3493" "0" "c.3493C>T" "r.(?)" "p.(Gln1165Ter)" "30" "0000896893" "00001669" "90" "3493" "0" "3493" "0" "c.3493C>T" "r.(?)" "p.(Gln1165Ter)" "30" "0000896894" "00001669" "90" "3493" "0" "3493" "0" "c.3493C>T" "r.(?)" "p.(Gln1165Ter)" "30" "0000896895" "00001669" "90" "3493" "0" "3493" "0" "c.3493C>T" "r.(?)" "p.(Gln1165Ter)" "30" "0000896896" "00001669" "90" "3493" "0" "3493" "0" "c.3493C>T" "r.(?)" "p.(Gln1165Ter)" "30" "0000896897" "00001669" "90" "3493" "0" "3493" "0" "c.3493C>T" "r.(?)" "p.(Gln1165Ter)" "30" "0000896898" "00001669" "90" "3572" "2" "3572" "2" "c.3572+2T>A" "r.3460_3572del" "p.Ile1154Thrfs*5" "30i" "0000896899" "00001669" "90" "3590" "0" "3590" "0" "c.3590del" "r.(?)" "p.(Asn1197ThrfsTer2)" "31" "0000896900" "00001669" "90" "3590" "0" "3590" "0" "c.3590del" "r.(?)" "p.(Asn1197ThrfsTer2)" "31" "0000896901" "00001669" "90" "3690" "0" "3693" "0" "c.3690_3693del" "r.spl?" "p.(Asp1231SerfsTer16)" "32" "0000896902" "00001669" "90" "3690" "0" "3693" "0" "c.3690_3693del" "r.spl?" "p.(Asp1231SerfsTer16)" "32" "0000896903" "00001669" "90" "3690" "0" "3693" "0" "c.3690_3693del" "r.spl?" "p.(Asp1231SerfsTer16)" "32" "0000896904" "00001669" "90" "3690" "0" "3693" "0" "c.3690_3693del" "r.spl?" "p.(Asp1231SerfsTer16)" "32" "0000896905" "00001669" "90" "171" "0" "171" "0" "c.171C>G" "r.(?)" "p.(Tyr57Ter)" "3" "0000896906" "00001669" "50" "1161" "0" "1161" "0" "c.1161G>A" "r.(?)" "p.(Met387Ile)" "9" "0000896907" "00001669" "90" "3572" "2" "3572" "2" "c.3572+2T>A" "r.3460_3572del" "p.Ile1154Thrfs*5" "30i" "0000896908" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896909" "00001669" "90" "1165" "0" "1165" "0" "c.1165del" "r.(?)" "p.(Arg389GlufsTer4)" "9" "0000896910" "00001669" "90" "356" "-2" "356" "-2" "c.356-2A>C" "r.356_504del" "p.Val119Alafs*10" "4i" "0000896911" "00001669" "90" "474" "0" "474" "0" "c.474del" "r.(?)" "p.(Phe158LeufsTer4)" "5" "0000896912" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896913" "00001669" "90" "1165" "0" "1165" "0" "c.1165del" "r.(?)" "p.(Arg389GlufsTer4)" "9" "0000896914" "00001669" "90" "3496" "0" "3496" "0" "c.3496A>T" "r.(?)" "p.(Lys1166Ter)" "30" "0000896915" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896916" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896917" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896918" "00001669" "90" "3446" "0" "3446" "0" "c.3446del" "r.(?)" "p.(Glu1149GlyfsTer13)" "29" "0000896919" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896920" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896921" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896922" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896923" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896924" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896925" "00001669" "90" "3767" "0" "3767" "0" "c.3767C>G" "r.(?)" "p.(Ser1256Ter)" "32" "0000896926" "00001669" "50" "403" "0" "403" "0" "c.403A>G" "r.(?)" "p.(Lys135Glu)" "5" "0000896927" "00001669" "90" "2055" "0" "2055" "0" "c.2055del" "r.(?)" "p.(Lys686SerfsTer5)" "18" "0000896928" "00001669" "90" "3572" "2" "3572" "2" "c.3572+2T>A" "r.3460_3572del" "p.Ile1154Thrfs*5" "30i" "0000896929" "00001669" "90" "1165" "0" "1165" "0" "c.1165del" "r.(?)" "p.(Arg389GlufsTer4)" "9" "0000896930" "00001669" "90" "1165" "0" "1165" "0" "c.1165del" "r.(?)" "p.(Arg389GlufsTer4)" "9" "0000896931" "00001669" "90" "2089" "-1" "2825" "1" "c.(2088+1_2089-1)_(2825+1_2826-1)del" "r.2089_2825del" "p.Val697Ilefs*9" "18i_23i" "0000896932" "00001669" "90" "2221" "0" "2221" "0" "c.2221C>T" "r.(?)" "p.(Arg741Ter)" "19" "0000896933" "00001669" "90" "2103" "0" "2104" "0" "c.2103_2104del" "r.(?)" "p.(Leu702TyrfsTer29)" "19" "0000896934" "00001669" "90" "2103" "0" "2104" "0" "c.2103_2104del" "r.(?)" "p.(Leu702TyrfsTer29)" "19" "0000896935" "00001669" "90" "3139" "-1" "3139" "-1" "c.3139-1G>C" "r.3139_3233del" "p.Gly1047Phefs*14" "25i" "0000896936" "00001669" "90" "2665" "0" "2665" "0" "c.2665C>T" "r.(?)" "p.(Arg889Ter)" "22" "0000896937" "00001669" "90" "1486" "0" "1486" "0" "c.1486A>T" "r.(?)" "p.(Lys496Ter)" "12" "0000896938" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896939" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896940" "00001669" "90" "2221" "0" "2221" "0" "c.2221C>T" "r.(?)" "p.(Arg741Ter)" "19" "0000896941" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896942" "00001669" "90" "3030" "0" "3033" "0" "c.3030_3033del" "r.(?)" "p.(Thr1011ArgfsTer11)" "25" "0000896943" "00001669" "90" "2772" "0" "2772" "0" "c.2772del" "r.(?)" "p.(Ala925ProfsTer49)" "23" "0000896944" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896945" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896946" "00001669" "90" "3090" "0" "3693" "0" "c.3090_3693del" "r.(?)" "p.(Glu1030AspfsTer17)" "25" "0000896947" "00001669" "90" "2089" "-1" "2089" "-1" "c.2089-1G>C" "r.2089_2273del" "p.Val697Phefs*6" "18i" "0000896948" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896949" "00001669" "90" "2088" "651" "2825" "3670" "c.2088+651_2825+3670del" "r.?" "p.?" "18i_23i" "0000896950" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896951" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896952" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896953" "00001669" "90" "1909" "0" "1909" "0" "c.1909C>T" "r.(?)" "p.(Arg637Trp)" "17" "0000896954" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896955" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "9" "0000896956" "00001669" "90" "3590" "0" "3590" "0" "c.3590del" "r.(?)" "p.(Asn1197ThrfsTer2)" "31" "0000896957" "00001669" "90" "2089" "-1" "2825" "1" "c.(2088+1_2089-1)_(2825+1_2826-1)del" "r.?" "p.?" "18i_23i" "0000896958" "00001669" "90" "3572" "2" "3572" "2" "c.3572+2T>A" "r.3460_3572del" "p.Ile1154Thrfs*5" "30i" "0000896959" "00001669" "90" "3690" "0" "3693" "0" "c.3690_3693del" "r.3690_3693del" "p.Asp1231Serfs*16" "32" "0000896960" "00001669" "90" "1165" "0" "1165" "0" "c.1165del" "r.(?)" "p.(Arg389GlufsTer4)" "9" "0000896961" "00001669" "90" "3037" "0" "3038" "0" "c.3037_3038del" "r.(?)" "p.(Ser1013LeufsTer12)" "25" "0000896962" "00001669" "90" "3690" "0" "3693" "0" "c.3690_3693del" "r.(?)" "p.(Asp1231SerfsTer16)" "31" "0000896963" "00001669" "90" "3913" "0" "3913" "0" "c.3913C>T" "r.(?)" "p.(Arg1305Ter)" "33" "0000896964" "00001669" "90" "1165" "0" "1165" "0" "c.1165del" "r.(?)" "p.(Arg389GlufsTer4)" "9" "0000896965" "00001669" "90" "1165" "0" "1165" "0" "c.1165del" "r.(?)" "p.(Arg389GlufsTer4)" "9" "0000896966" "00001669" "10" "1161" "0" "1161" "0" "c.1161G>A" "r.1161g>a" "p.Met387Ile" "9" "0000896967" "00001669" "90" "1165" "0" "1165" "0" "c.1165del" "r.1165del" "p.Arg389GlufsTer4" "9" "0000896968" "00001669" "10" "3222" "0" "3222" "0" "c.3222G>T" "r.3222g>u" "p.Leu1074Phe" "26" "0000896969" "00001669" "90" "2665" "0" "2665" "0" "c.2665C>T" "r.(?)" "p.(Arg889Ter)" "22" "0000896970" "00001669" "90" "1165" "0" "1165" "0" "c.1165del" "r.(?)" "p.(Arg389GlufsTer4)" "9" "0000896971" "00001669" "10" "513" "0" "513" "0" "c.513C>T" "r.(=)" "p.(Cys171=)" "" "0000896972" "00001669" "10" "1161" "0" "1161" "0" "c.1161G>A" "r.(?)" "p.(Met387Ile)" "" "0000896973" "00001669" "10" "2361" "0" "2361" "0" "c.2361G>T" "r.(=)" "p.(Leu787=)" "" "0000896974" "00001669" "10" "2460" "0" "2460" "0" "c.2460T>G" "r.(=)" "p.(Ala820=)" "" "0000896975" "00001669" "10" "4083" "0" "4083" "0" "c.4083C>T" "r.(?)" "p.(Ser1361=)" "" "0000896976" "00001669" "70" "4099" "0" "4099" "0" "c.4099T>C" "r.(?)" "p.(Cys1367Arg)" "" "0000896977" "00001669" "10" "1161" "0" "1161" "0" "c.1161G>A" "r.(?)" "p.(Met387Ile)" "" "0000896978" "00001669" "10" "1161" "0" "1161" "0" "c.1161G>A" "r.(?)" "p.(Met387Ile)" "" "0000896979" "00001669" "10" "1161" "0" "1161" "0" "c.1161G>A" "r.(?)" "p.(Met387Ile)" "" "0000896981" "00001669" "10" "970" "0" "970" "0" "c.970A>G" "r.(?)" "p.(Thr324Ala)" "" "0000912948" "00001669" "30" "1149" "0" "1149" "0" "c.1149G>T" "r.(?)" "p.(Leu383Phe)" "" "0000912949" "00001669" "30" "2983" "0" "2983" "0" "c.2983G>A" "r.(?)" "p.(Ala995Thr)" "" "0000932963" "00001669" "90" "2665" "0" "2665" "0" "c.2665C>T" "r.(?)" "p.(Arg889Ter)" "" "0000932964" "00001669" "70" "474" "0" "474" "0" "c.474del" "r.(?)" "p.(Phe158LeufsTer4)" "" "0000964984" "00001669" "30" "1351" "-5" "1351" "-5" "c.1351-5del" "r.spl?" "p.?" "" "0000985075" "00001669" "90" "1290" "0" "1293" "0" "c.1290_1293del" "r.(?)" "p.(Asn430LysfsTer7)" "" "0000997142" "00001669" "50" "822" "0" "822" "0" "c.822A>G" "r.(?)" "p.(=)" "" "0000997143" "00001669" "50" "3247" "0" "3247" "0" "c.3247T>C" "r.(?)" "p.(Ser1083Pro)" "" "0001014442" "00001669" "90" "2179" "0" "2179" "0" "c.2179dup" "r.(?)" "p.(Cys727Leufs*5)" "" "0001016681" "00001669" "90" "502" "0" "503" "0" "c.502_503del" "r.(?)" "p.(Lys168AlafsTer10)" "" "0001016682" "00001669" "90" "502" "0" "503" "0" "c.502_503del" "r.(?)" "p.(Lys168AlafsTer10)" "" "0001052985" "00001669" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Ter)" "" "0001052986" "00001669" "90" "2665" "0" "2665" "0" "c.2665C>T" "r.(?)" "p.(Arg889Ter)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 357 "{{screeningid}}" "{{variantid}}" "0000000209" "0000004615" "0000000210" "0000012598" "0000249329" "0000578085" "0000249373" "0000578139" "0000295794" "0000652483" "0000295795" "0000652484" "0000300752" "0000663598" "0000306325" "0000670013" "0000408159" "0000845036" "0000408160" "0000845037" "0000408244" "0000845121" "0000415803" "0000873694" "0000415804" "0000873695" "0000415805" "0000873696" "0000415806" "0000873697" "0000415807" "0000873698" "0000421280" "0000881955" "0000421280" "0000881956" "0000421280" "0000881957" "0000421280" "0000881958" "0000421280" "0000881959" "0000421280" "0000881960" "0000421280" "0000881961" "0000421280" "0000881962" "0000421280" "0000881963" "0000421281" "0000881964" "0000421281" "0000881965" "0000421281" "0000881966" "0000421281" "0000881967" "0000421281" "0000881968" "0000421281" "0000881969" "0000421281" "0000881970" "0000421281" "0000881971" "0000421281" "0000881972" "0000421303" "0000882011" "0000421303" "0000882012" "0000421303" "0000882014" "0000421303" "0000882015" "0000421303" "0000882016" "0000421303" "0000882017" "0000421303" "0000882018" "0000421303" "0000882019" "0000421303" "0000882020" "0000421303" "0000882021" "0000421304" "0000882022" "0000421305" "0000882025" "0000421338" "0000882089" "0000421338" "0000882093" "0000421344" "0000882103" "0000421350" "0000882110" "0000421351" "0000882112" "0000421351" "0000882113" "0000421352" "0000882114" "0000421352" "0000882115" "0000421352" "0000882116" "0000421352" "0000882142" "0000421353" "0000882118" "0000421353" "0000882119" "0000421355" "0000882122" "0000421355" "0000882123" "0000421360" "0000882130" "0000421360" "0000882131" "0000421361" "0000882132" "0000421361" "0000882133" "0000421362" "0000882134" "0000421362" "0000882135" "0000421363" "0000882136" "0000421363" "0000882137" "0000421364" "0000882138" "0000421364" "0000882139" "0000421365" "0000882140" "0000421365" "0000882141" "0000421366" "0000882143" "0000421366" "0000882144" "0000421367" "0000882145" "0000421367" "0000882146" "0000421367" "0000896977" "0000421651" "0000896393" "0000421652" "0000896394" "0000421653" "0000896395" "0000421654" "0000896396" "0000421655" "0000896397" "0000421656" "0000896398" "0000421657" "0000896399" "0000421658" "0000896400" "0000421659" "0000896401" "0000421660" "0000896402" "0000421661" "0000896403" "0000421662" "0000896404" "0000421663" "0000896405" "0000421664" "0000896406" "0000421665" "0000896407" "0000421666" "0000896408" "0000421667" "0000896409" "0000421668" "0000896410" "0000421669" "0000896411" "0000421670" "0000896412" "0000421671" "0000896413" "0000421672" "0000896414" "0000421673" "0000896415" "0000421674" "0000896416" "0000421675" "0000896417" "0000421676" "0000896418" "0000421678" "0000896421" "0000421679" "0000896422" "0000421680" "0000896423" "0000421681" "0000896424" "0000421682" "0000896425" "0000421683" "0000896426" "0000421684" "0000896427" "0000421685" "0000896428" "0000421686" "0000896429" "0000421687" "0000896430" "0000421688" "0000896431" "0000421689" "0000896432" "0000421690" "0000896433" "0000421691" "0000896434" "0000421692" "0000896435" "0000421693" "0000896436" "0000421694" "0000896437" "0000421695" "0000896438" "0000421696" "0000896439" "0000421697" "0000896440" "0000421906" "0000896748" "0000421906" "0000896926" "0000421907" "0000896749" "0000421908" "0000896750" "0000421909" "0000896751" "0000421910" "0000896752" "0000421911" "0000896753" "0000421912" "0000896754" "0000421912" "0000896927" "0000421913" "0000896755" "0000421914" "0000896756" "0000421914" "0000896928" "0000421915" "0000896757" "0000421916" "0000896758" "0000421917" "0000896759" "0000421918" "0000896760" "0000421918" "0000896929" "0000421919" "0000896761" "0000421920" "0000896762" "0000421920" "0000896930" "0000421920" "0000896978" "0000421921" "0000896763" "0000421922" "0000896764" "0000421923" "0000896765" "0000421923" "0000896931" "0000421924" "0000896766" "0000421924" "0000896932" "0000421925" "0000896767" "0000421925" "0000896933" "0000421926" "0000896768" "0000421927" "0000896769" "0000421927" "0000896934" "0000421928" "0000896770" "0000421928" "0000896935" "0000421929" "0000896771" "0000421930" "0000896772" "0000421931" "0000896773" "0000421932" "0000896774" "0000421933" "0000896775" "0000421934" "0000896776" "0000421935" "0000896777" "0000421936" "0000896778" "0000421937" "0000896779" "0000421937" "0000896936" "0000421938" "0000896780" "0000421939" "0000896781" "0000421940" "0000896782" "0000421941" "0000896783" "0000421942" "0000896784" "0000421942" "0000896937" "0000421943" "0000896785" "0000421943" "0000896938" "0000421944" "0000896786" "0000421945" "0000896787" "0000421946" "0000896788" "0000421947" "0000896789" "0000421948" "0000896790" "0000421948" "0000896939" "0000421949" "0000896791" "0000421950" "0000896792" "0000421950" "0000896940" "0000421951" "0000896793" "0000421951" "0000896941" "0000421952" "0000896794" "0000421952" "0000896942" "0000421953" "0000896795" "0000421953" "0000896943" "0000421954" "0000896796" "0000421954" "0000896944" "0000421955" "0000896797" "0000421956" "0000896798" "0000421956" "0000896945" "0000421957" "0000896799" "0000421957" "0000896946" "0000421958" "0000896800" "0000421958" "0000896947" "0000421959" "0000896801" "0000421960" "0000896802" "0000421961" "0000896803" "0000421962" "0000896804" "0000421963" "0000896805" "0000421964" "0000896806" "0000421965" "0000896807" "0000421966" "0000896808" "0000421966" "0000896948" "0000421967" "0000896809" "0000421968" "0000896810" "0000421969" "0000896811" "0000421969" "0000896949" "0000421970" "0000896812" "0000421970" "0000896950" "0000421971" "0000896813" "0000421972" "0000896814" "0000421972" "0000896951" "0000421973" "0000896815" "0000421974" "0000896816" "0000421975" "0000896817" "0000421976" "0000896818" "0000421976" "0000896952" "0000421977" "0000896819" "0000421978" "0000896820" "0000421979" "0000896821" "0000421980" "0000896822" "0000421980" "0000896953" "0000421981" "0000896823" "0000421982" "0000896824" "0000421982" "0000896954" "0000421983" "0000896825" "0000421984" "0000896826" "0000421985" "0000896827" "0000421986" "0000896828" "0000421987" "0000896829" "0000421988" "0000896830" "0000421988" "0000896955" "0000421989" "0000896831" "0000421989" "0000896956" "0000421990" "0000896832" "0000421991" "0000896833" "0000421992" "0000896834" "0000421992" "0000896957" "0000421993" "0000896835" "0000421994" "0000896836" "0000421995" "0000896837" "0000421996" "0000896838" "0000421997" "0000896839" "0000421998" "0000896840" "0000421999" "0000896841" "0000421999" "0000896958" "0000421999" "0000896979" "0000422000" "0000896842" "0000422001" "0000896843" "0000422002" "0000896844" "0000422003" "0000896845" "0000422004" "0000896846" "0000422005" "0000896847" "0000422006" "0000896848" "0000422007" "0000896849" "0000422007" "0000896959" "0000422008" "0000896850" "0000422008" "0000896960" "0000422009" "0000896851" "0000422010" "0000896852" "0000422011" "0000896853" "0000422012" "0000896854" "0000422013" "0000896855" "0000422014" "0000896856" "0000422015" "0000896857" "0000422016" "0000896858" "0000422017" "0000896859" "0000422017" "0000896961" "0000422018" "0000896860" "0000422019" "0000896861" "0000422019" "0000896962" "0000422020" "0000896862" "0000422021" "0000896863" "0000422022" "0000896864" "0000422022" "0000896963" "0000422023" "0000896865" "0000422024" "0000896866" "0000422025" "0000896867" "0000422026" "0000896868" "0000422027" "0000896869" "0000422028" "0000896870" "0000422029" "0000896871" "0000422030" "0000896872" "0000422031" "0000896873" "0000422032" "0000896874" "0000422033" "0000896875" "0000422034" "0000896876" "0000422035" "0000896877" "0000422036" "0000896878" "0000422037" "0000896879" "0000422038" "0000896880" "0000422039" "0000896881" "0000422040" "0000896882" "0000422041" "0000896883" "0000422042" "0000896884" "0000422043" "0000896885" "0000422044" "0000896886" "0000422045" "0000896887" "0000422046" "0000896888" "0000422047" "0000896889" "0000422048" "0000896890" "0000422049" "0000896891" "0000422050" "0000896892" "0000422051" "0000896893" "0000422052" "0000896894" "0000422053" "0000896895" "0000422054" "0000896896" "0000422055" "0000896897" "0000422056" "0000896898" "0000422056" "0000896964" "0000422057" "0000896899" "0000422058" "0000896900" "0000422059" "0000896901" "0000422060" "0000896902" "0000422061" "0000896903" "0000422062" "0000896904" "0000422063" "0000896905" "0000422064" "0000896906" "0000422064" "0000896965" "0000422065" "0000896907" "0000422065" "0000896966" "0000422065" "0000896967" "0000422065" "0000896968" "0000422066" "0000896908" "0000422066" "0000896969" "0000422067" "0000896909" "0000422068" "0000896910" "0000422069" "0000896911" "0000422069" "0000896970" "0000422070" "0000896912" "0000422071" "0000896913" "0000422072" "0000896914" "0000422073" "0000896915" "0000422074" "0000896916" "0000422075" "0000896917" "0000422076" "0000896918" "0000422077" "0000896919" "0000422078" "0000896920" "0000422079" "0000896921" "0000422080" "0000896922" "0000422081" "0000896923" "0000422082" "0000896924" "0000422083" "0000896925" "0000422084" "0000896971" "0000422085" "0000896972" "0000422086" "0000896973" "0000422087" "0000896974" "0000422088" "0000896975" "0000422089" "0000896976" "0000422090" "0000896981" "0000458984" "0001016681" "0000458985" "0001016682"