### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CDKN2A) # 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}}" "CDKN2A" "cyclin-dependent kinase inhibitor 2A" "9" "p21" "unknown" "LRG_11" "UD_127955181972" "" "https://www.LOVD.nl/CDKN2A" "" "1" "1787" "1029" "600160" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/CDKN2A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2007-03-10 00:00:00" "00006" "2016-12-10 13:02:28" "00000" "2025-09-22 11:41:02" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00004876" "CDKN2A" "cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4), transcript variant 1" "002" "NM_000077.4" "" "NP_000068.1" "" "" "" "-306" "948" "471" "21975132" "21967751" "" "0000-00-00 00:00:00" "" "" "00024207" "CDKN2A" "transcript variant 4" "001" "NM_058195.3" "" "NP_478102.2" "" "" "" "-160" "991" "399" "21994490" "21967751" "00006" "2016-12-10 13:08:38" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00091" "CRC" "cancer, colorectal, susceptibility to (CRC)" "AD;SMu" "114500" "" "" "" "00001" "2012-12-07 10:49:46" "00006" "2021-12-10 21:51:32" "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" "00681" "cancer, pancreatic" "cancer, pancreatic" "" "260350" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-08-28 08:24:29" "00926" "melanoma" "melanoma" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-24 11:48:38" "01432" "CMM2" "melanoma, cutaneous, malignant, susceptibility to, type 2 (CMM-2)" "AD" "155601" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01433" "-" "melanoma astrocytoma syndrome" "AD" "155755" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02597" "-" "melanoma-pancreatic cancer syndrome" "AD" "606719" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "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" "" "" "05389" "SWNTS" "Schwannomatosis (SWNTS)" "" "" "" "" "" "00006" "2018-02-01 14:09:26" "" "" "05489" "cancer, colon" "cancer, colon" "" "" "" "" "" "00006" "2018-10-26 16:33:57" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "CDKN2A" "00926" "CDKN2A" "01432" "CDKN2A" "01433" "CDKN2A" "02597" ## Individuals ## Do not remove or alter this header ## ## Count = 457 "{{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}}" "00047320" "" "" "" "1" "" "00727" "{PMID:Foppiani 2008:18299477}" "" "M" "" "(Italy)" "" "0" "" "" "" "" "00090508" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090509" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090510" "" "" "" "7" "" "01816" "" "gene panel study on controls" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090511" "" "" "" "8" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090512" "" "" "" "5" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090513" "" "" "" "2" "" "01816" "" "gene panel study on controls" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090514" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090515" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090516" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090517" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090518" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090519" "" "" "" "3" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090520" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090521" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090882" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00111200" "" "" "" "1" "" "00640" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00111201" "" "" "" "1" "" "00006" "{PMID:Eliason 2006:16397522}" "" "" "" "United States" "" "0" "" "" "Utah" "" "00111202" "" "" "" "1" "" "00006" "{PMID:Begg 2005:16234564}" "" "" "" "" "" "0" "" "" "" "" "00111203" "" "" "" "1" "" "00006" "{PMID:Begg 2005:16234564}" "" "" "" "" "" "0" "" "" "" "" "00111204" "" "" "" "1" "" "00006" "{PMID:Ruiz 1999:10874641}" "3 patients with CMM" "" "" "Spain" "" "0" "" "" "" "" "00111205" "" "" "" "1" "" "00006" "{PMID:FitzGerald 1996:8710906}" "" "" "" "" "" "0" "" "" "" "" "00111206" "" "" "" "1" "" "00006" "{PMID:Lynch 2002:11815963}" "" "" "" "United States" "" "0" "" "" "" "" "00111207" "" "" "" "1" "" "00006" "{PMID:Ruiz 1999:10874641}" "" "" "" "" "" "0" "" "" "" "" "00111208" "" "" "" "1" "" "00006" "{PMID:Ruas 1998:9823374}" "" "" "" "" "" "0" "" "" "" "" "00111209" "" "" "" "1" "" "00006" "{PMID:Harland 1997:9328469}" "" "" "" "" "" "0" "" "" "" "" "00111210" "" "" "" "1" "" "00006" "{PMID:FitzGerald 1996:8710906}" "" "" "" "" "" "0" "" "" "" "" "00111211" "" "" "" "1" "" "00006" "{PMID:Hocevar 2006:17167857}" "" "" "" "" "" "0" "" "" "" "" "00111212" "" "" "" "1" "" "00006" "{PMID:Goldstein 2007:16905682}" "" "" "" "" "" "0" "" "" "" "" "00111213" "" "" "" "1" "" "02158" "" "" "F" "?" "Slovenia" "" "0" "" "" "" "" "00111214" "" "" "" "1" "" "02158" "" "" "M" "?" "Slovenia" "" "0" "" "" "" "" "00111215" "" "" "" "1" "" "00006" "submitted Harland" "" "" "" "" "" "0" "" "" "" "" "00111216" "" "" "" "1" "" "00006" "{PMID:Bartsch 2002:1245451}" "" "" "" "" "" "0" "" "" "" "" "00111217" "" "" "" "1" "" "00006" "{PMID:Bartsch 2002:1245451}" "" "" "" "" "" "0" "" "" "" "" "00111218" "" "" "" "1" "" "00006" "{PMID:Yarbrough 2002:12461329}" "" "" "" "" "" "0" "" "" "" "" "00111219" "" "" "" "1" "" "00006" "{PMID:Soufir 1998:9425228}" "" "" "" "" "" "0" "" "" "" "" "00111220" "" "" "" "1" "" "00006" "{PMID:Begg 2005:16234564}" "" "" "" "" "" "0" "" "" "" "" "00111221" "" "" "" "1" "" "00006" "{PMID:Soufir 1998:9425228}" "" "" "" "" "" "0" "" "" "" "" "00111222" "" "" "" "1" "" "00006" "{PMID:Yarbrough 2002:12461329}" "" "" "" "" "" "0" "" "" "" "" "00111223" "" "" "" "1" "" "01540" "" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00111224" "" "" "" "1" "" "00006" "{PMID:Blackwood 2002:12001124}" "" "" "" "" "" "0" "" "" "" "12001124-M011" "00111225" "" "" "" "1" "" "00006" "{PMID:Begg 2005:16234564}" "" "" "" "" "" "0" "" "" "" "" "00111226" "" "" "" "1" "" "00006" "{PMID:Begg 2005:16234564}" "" "" "" "" "" "0" "" "" "" "" "00111227" "" "" "" "1" "" "00006" "{PMID:Monzon 1998:9516223}" "" "" "" "" "" "0" "" "" "" "" "00111228" "" "" "" "1" "" "00006" "{PMID:Liu 1995:7624155}" "" "" "" "" "" "0" "" "" "" "" "00111229" "" "" "" "1" "" "00006" "{PMID:Fujimoto 1999:10229204}" "" "" "" "" "" "0" "" "" "" "" "00111230" "" "" "" "1" "" "00006" "{PMID:FitzGerald 1996:8710906}" "" "" "" "" "" "0" "" "" "" "" "00111231" "" "" "" "1" "" "00006" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00111232" "" "" "" "1" "" "00006" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00111233" "" "" "" "1" "" "00006" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00111234" "" "" "" "1" "" "00006" "{PMID:FitzGerald 1996:8710906}" "" "" "" "" "" "0" "" "" "" "" "00111235" "" "" "" "1" "" "00006" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00111236" "" "" "" "1" "" "00006" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00111237" "" "" "" "1" "" "00006" "{PMID:FitzGerald 1996:8710906}" "" "" "" "" "" "0" "" "" "" "" "00111238" "" "" "" "1" "" "00006" "{PMID:Flores 1997:9416844}" "" "" "" "" "" "0" "" "" "" "" "00111239" "" "" "" "1" "" "00006" "{PMID:Stratigos 2006:16374456}" "" "" "" "" "" "0" "" "" "" "" "00111240" "" "" "" "1" "" "00006" "{PMID:Borg 1996:8653684}" "" "" "" "" "" "0" "" "" "" "" "00111241" "" "" "" "1" "" "00006" "{PMID:Holland 1999:10398427}" "" "" "" "" "" "0" "" "" "" "" "00111242" "" "" "" "1" "" "00006" "Weiss, submitted 2007" "" "" "" "" "" "0" "" "" "" "" "00111243" "" "" "" "1" "" "00006" "{PMID:FitzGerald 1996:8710906}" "" "" "" "" "" "0" "" "" "" "" "00111244" "" "" "" "1" "" "00006" "{PMID:Auroy 2001:11579459}" "" "" "" "" "" "0" "" "" "" "" "00111245" "" "" "" "1" "" "00006" "{PMID:Holland 1999:10398427}" "" "" "" "" "" "0" "" "" "" "" "00111246" "" "" "" "1" "" "00006" "{PMID:Fargnoli 1998:9856841}" "" "" "" "" "" "0" "" "" "" "" "00111247" "" "" "" "1" "" "00006" "{PMID:Borg 2000:10922411}" "" "" "" "" "" "0" "" "" "" "" "00111248" "" "" "" "1" "" "00006" "{PMID:Blackwood 2002:12001124}" "" "" "" "" "" "0" "" "" "German, English, Irish" "12001124-M002" "00111249" "" "" "" "1" "" "00006" "{PMID:Bishop 2002:12072543}" "" "F" "" "" "" "0" "" "" "" "" "00111250" "" "" "" "1" "" "00006" "{PMID:Helsing 2008:18023021}" "" "" "" "" "" "0" "" "" "" "" "00111251" "" "" "" "1" "" "00006" "{PMID:Goldstein 2007:16905682}" "" "" "" "" "" "0" "" "" "" "" "00111252" "" "" "" "1" "" "00006" "{PMID:Yakobson 2000:10951521}" "" "" "" "" "" "0" "" "" "" "" "00111253" "" "" "" "1" "" "00006" "submitted Harland" "" "" "" "" "" "0" "" "" "" "" "00111254" "" "" "" "1" "" "00006" "{PMID:Begg 2005:16234564}" "" "" "" "" "" "0" "" "" "" "" "00111255" "" "" "" "1" "" "00006" "{PMID:Holland 1999:10398427}" "" "" "" "" "" "0" "" "" "" "" "00111256" "" "" "" "1" "" "00006" "{PMID:Bishop 2002:12072543}" "" "" "" "" "" "0" "" "" "" "" "00111257" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00111258" "" "" "" "1" "" "00006" "{PMID:Lynch 2002:11815963}" "" "" "" "" "" "0" "" "" "" "" "00111259" "" "" "" "1" "" "00006" "{PMID:Ruas 1998:9823374}" "" "" "" "" "" "0" "" "" "" "" "00111260" "" "" "" "1" "" "00006" "{PMID:Landi 2004:15235029}" "" "" "" "" "" "0" "" "" "" "" "00111261" "" "" "" "1" "" "00006" "submitted Harland" "" "" "" "" "" "0" "" "" "" "" "00111262" "" "" "" "1" "" "00006" "{PMID:Helsing 2008:18023021}" "" "" "" "" "" "0" "" "" "" "" "00111263" "" "" "" "1" "" "00006" "{PMID:Helsing 2008:18023021}" "" "" "" "" "" "0" "" "" "" "" "00111264" "" "" "" "1" "" "00006" "submitted Weiss" "" "" "" "" "" "0" "" "" "" "" "00111265" "" "" "" "1" "" "00006" "submitted Weiss" "" "" "" "" "" "0" "" "" "" "" "00111266" "" "" "" "1" "" "00006" "{PMID:Orlow 2007:17218939}" "" "" "" "" "" "0" "" "" "" "" "00111267" "" "" "" "1" "" "00006" "{PMID:Soufir 1998:9425228}" "" "" "" "" "" "0" "" "" "" "" "00111268" "" "" "" "1" "" "00006" "{PMID:FitzGerald 1996:8710906}" "" "" "" "" "" "0" "" "" "" "" "00111269" "" "" "" "1" "" "00006" "{PMID:Kannengieser 2003:14506702}" "" "" "" "" "" "0" "" "" "" "" "00111270" "" "" "" "1" "" "00006" "{PMID:Bishop 2002:12072543}" "" "" "" "" "" "0" "" "" "" "" "00111271" "" "" "" "1" "" "00006" "{PMID:Goldstein 2008:18178632}" "" "" "" "" "" "0" "" "" "" "" "00111272" "" "" "" "1" "" "00006" "{PMID:Goldstein 2008:18178632}" "" "" "" "" "" "0" "" "" "" "" "00111273" "" "" "" "1" "" "00006" "submitted Harland" "" "" "" "" "" "0" "" "" "" "" "00111274" "" "" "" "1" "" "00006" "submitted Harland" "" "" "" "" "" "0" "" "" "" "" "00111275" "" "" "" "1" "" "00006" "submitted Harland" "" "" "" "" "" "0" "" "" "" "" "00111276" "" "" "" "1" "" "00006" "{PMID:Harland 2001:11726555}" "" "" "" "" "" "0" "" "" "" "" "00111277" "" "" "" "1" "" "00006" "submitted Harland" "" "" "" "" "" "0" "" "" "" "" "00111278" "" "" "" "1" "" "00006" "{PMID:Bishop 2002:12072543}" "" "" "" "" "" "0" "" "" "" "" "00111279" "" "" "" "1" "" "00006" "submitted Weiss" "" "" "" "" "" "0" "" "" "" "" "00111280" "" "" "" "1" "" "00006" "{PMID:Orlow 2007:17218939}" "" "" "" "" "" "0" "" "" "" "" "00111281" "" "" "" "1" "" "00006" "{PMID:Goldstein 2008:18178632}" "" "" "" "" "" "0" "" "" "" "" "00111282" "" "" "" "1" "" "00006" "{PMID:Soufir 1998:9425228}" "" "" "" "" "" "0" "" "" "" "" "00111283" "" "" "" "1" "" "00006" "{PMID:Orlow 2007:17218939}" "" "" "" "" "" "0" "" "" "" "" "00111284" "" "" "" "1" "" "01540" "" "~155 kb deletion includes CDKN2B, CDKN2A and part of MTAP. Boundaries NOT defined." "F" "" "Netherlands" "" "0" "" "" "" "" "00111285" "" "" "" "1" "" "00006" "{PMID:Begg 2005:16234564}" "" "" "" "" "" "0" "" "" "" "" "00111286" "" "" "" "1" "" "00006" "{PMID:Blackwood 2002:12001124}" "" "" "" "" "" "0" "" "" "Scottish, English, German" "12001124-M064" "00111287" "" "" "" "1" "" "00006" "{PMID:Soufir 1998:9425228}" "" "" "" "" "" "0" "" "" "" "" "00111288" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00111289" "" "" "" "1" "" "00006" "{PMID:Harland 1997:9328469}" "" "" "" "" "" "0" "" "" "" "" "00111290" "" "" "" "1" "" "00006" "{PMID:Ghiorzo 2006:16893909}" "" "" "" "" "" "0" "" "" "" "" "00111291" "" "" "" "1" "" "00006" "{PMID:Hashemi 2000:11156381}" "" "" "" "" "" "0" "" "" "" "" "00111292" "" "" "" "1" "" "00006" "{PMID:Blackwood 2002:12001124}" "" "" "" "Poland" "" "0" "" "" "" "12001124-M054" "00111293" "" "" "" "1" "" "00006" "{PMID:Bishop 2002:12072543}" "" "" "" "" "" "0" "" "" "" "" "00111294" "" "" "" "1" "" "00006" "{PMID:Walker 1995:8595405}" "" "" "" "" "" "0" "" "" "" "" "00111295" "" "" "" "1" "" "00006" "" "" "" "" "Netherlands" "" "0" "" "" "Dutch" "" "00111296" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00111297" "" "" "" "1" "" "00006" "{PMID:Hearle 2003:12556369}" "" "" "" "" "" "0" "" "" "" "" "00111298" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00111299" "" "" "" "1" "" "00006" "{PMID:Holland 1999:10398427}" "" "" "" "" "" "0" "" "" "" "" "00111300" "" "" "" "1" "" "00006" "{PMID:Auroy 2001:11579459}" "" "" "" "" "" "0" "" "" "" "" "00111301" "" "" "" "1" "" "00006" "{PMID:Lukowsky 2007:17890059}" "" "" "" "Germany" "" "0" "" "" "" "" "00111302" "" "" "" "1" "" "00006" "{PMID:Goldstein 2007:16905682}" "" "" "" "" "" "0" "" "" "" "" "00111303" "" "" "" "1" "" "00006" "{PMID:Pollock 2001:11477665}" "" "" "" "" "" "0" "" "" "" "" "00111304" "" "" "" "1" "" "00006" "{PMID:Begg 2005:16234564}" "" "" "" "" "" "0" "" "" "" "" "00111305" "" "" "" "1" "" "00006" "{PMID:Begg 2005:16234564}" "" "" "" "" "" "0" "" "" "" "" "00111306" "" "" "" "1" "" "00006" "" "" "" "" "Netherlands" "" "0" "" "" "Dutch" "" "00111307" "" "" "" "1" "" "00006" "{PMID:MacKie 1998:9699728}" "" "" "" "" "" "0" "" "" "" "" "00111308" "" "" "" "1" "" "00006" "{PMID:Begg 2005:16234564}" "" "" "" "" "" "0" "" "" "" "" "00111309" "" "" "" "1" "" "00006" "{PMID:MacKie 1998:9699728}" "" "" "" "" "" "0" "" "" "" "" "00111310" "" "" "" "1" "" "00006" "{PMID:Orlow 2007:17218939}" "" "" "" "" "" "0" "" "" "" "" "00111311" "" "" "" "1" "" "00006" "{PMID:Della Torre 2001:11556834}" "" "" "" "" "" "0" "" "" "" "" "00111312" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00111313" "" "" "" "1" "" "00006" "{PMID:Platz 1997:9168184}" "" "" "" "" "" "0" "" "" "" "" "00111314" "" "" "" "1" "" "00006" "{PMID:Ranade 1995:7647780}" "" "" "" "" "" "0" "" "" "" "" "00111315" "" "" "" "1" "" "00006" "{PMID:Holland 1999:10398427}" "" "" "" "" "" "0" "" "" "" "" "00111316" "" "" "" "1" "" "00006" "{PMID:Bartsch 2002:12454511}" "" "" "" "" "" "0" "" "" "" "" "00111317" "" "" "" "1" "" "00006" "" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00111318" "" "" "" "1" "" "00006" "{PMID:Lynch 2002:11815963}" "" "" "" "" "" "0" "" "" "" "" "00111319" "" "" "" "1" "" "00006" "{PMID:Walker 1995:8595405}" "" "" "" "" "" "0" "" "" "" "" "00111320" "" "" "" "1" "" "00006" "{PMID:Goldstein 2007:16905682}" "" "" "" "" "" "0" "" "" "" "" "00111321" "" "" "" "1" "" "00006" "{PMID:Blackwood 2002:12001124}" "" "" "" "Italy" "" "0" "" "" "" "12001124-M086" "00111322" "" "" "" "1" "" "00006" "{PMID:Goldstein 2007:16905682}" "" "" "" "" "" "0" "" "" "" "" "00111323" "" "" "" "2" "" "00006" "{PMID:Lang 2005:16307646}" "" "F" "" "Scotland" "" "0" "" "" "Scottish" "16307646-Fam33" "00111324" "" "" "" "1" "" "00006" "{PMID:Goldstein 2008:18178632}" "" "" "" "" "" "0" "" "" "" "" "00111325" "" "" "" "1" "" "00006" "{PMID:Chaudru 2004:15150307}" "" "" "" "" "" "0" "" "" "" "" "00111326" "" "" "" "1" "" "01540" "" "" "" "" "Netherlands" "" "0" "" "" "Dutch" "" "00111327" "" "" "" "1" "" "02158" "" "" "F" "?" "Slovenia" "" "0" "" "" "" "" "00111328" "" "" "" "1" "" "01540" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00111329" "" "" "" "1" "" "00006" "{PMID:Yang 2004:15304098}" "" "" "" "" "" "0" "" "" "" "" "00111330" "" "" "" "1" "" "00006" "{PMID:Huot 2002:12417717}" "" "" "" "" "" "0" "" "" "" "" "00111331" "" "" "" "1" "" "00006" "{PMID:Begg 2005:16234564}" "" "" "" "" "" "0" "" "" "" "" "00111332" "" "" "" "1" "" "00006" "{PMID:Soufir 1998:9425228}" "" "" "" "" "" "0" "" "" "" "" "00111333" "" "" "" "1" "" "00006" "{PMID:Chaubert 1997:9185756}" "" "" "" "" "" "0" "" "" "" "" "00111334" "" "" "" "1" "" "00006" "{PMID:FitzGerald 1996:8710906}" "" "" "" "" "" "0" "" "" "" "" "00111335" "" "" "" "1" "" "00006" "{PMID:Soufir 1998:9425228}" "" "" "" "" "" "0" "" "" "" "" "00111336" "" "" "" "1" "" "00006" "{PMID:Bishop 2002:12072543}" "" "" "" "" "" "0" "" "" "" "" "00111337" "" "" "" "1" "" "00006" "{PMID:Helsing 2008:18023021}" "" "" "" "" "" "0" "" "" "" "" "00111338" "" "" "" "1" "" "00006" "{PMID:Soufir 1998:9425228}" "" "" "" "" "" "0" "" "" "" "" "00111339" "" "" "" "1" "" "01540" "" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00111340" "" "" "" "1" "" "00006" "{PMID:Chaubert 1997:9185756}" "" "" "" "" "" "0" "" "" "" "" "00111341" "" "" "" "1" "" "00006" "{PMID:Begg 2005;16234564}" "" "" "" "" "" "0" "" "" "" "" "00111342" "" "" "" "1" "" "00006" "{PMID:Soufir 1998:9425228}" "" "" "" "" "" "0" "" "" "" "" "00111343" "" "" "" "1" "" "00006" "{PMID:Begg 2005:16234564}" "" "" "" "" "" "0" "" "" "" "" "00111344" "" "" "" "1" "" "00006" "{PMID:Hashemi 2000:11156381}" "" "" "" "" "" "0" "" "" "" "" "00111345" "" "" "" "1" "" "00006" "{PMID:Soufir 1998:9425228}" "" "" "" "" "" "0" "" "" "" "" "00111346" "" "" "" "1" "" "00006" "{PMID:Goldstein 2007:16905682}" "" "" "" "" "" "0" "" "" "" "" "00111347" "" "" "" "1" "" "00006" "{PMID:FitzGerald 1996:8710906}" "" "" "" "" "" "0" "" "" "" "" "00111348" "" "" "" "1" "" "00006" "{PMID:Goldstein 2007:16905682}" "" "" "" "" "" "0" "" "" "" "" "00111349" "" "" "" "1" "" "00006" "{PMID:Stratigos 2006:16374456}" "" "" "" "" "" "0" "" "" "" "" "00111350" "" "" "" "1" "" "00006" "{PMID:Bishop 2002:12072543}" "" "" "" "" "" "0" "" "" "" "" "00111351" "" "" "" "1" "" "00006" "{PMID:Kannengieser 2003:14506702}" "" "" "" "" "" "0" "" "" "" "" "00111352" "" "" "" "1" "" "00006" "{PMID:Newton Bishop 1999:10390011}" "" "" "" "" "" "0" "" "" "" "" "00111353" "" "" "" "1" "" "00006" "{PMID:Chaudru 2004:15150307}" "" "" "" "" "" "0" "" "" "" "" "00111354" "" "" "" "1" "" "00006" "{PMID:Grammatico 2001:11595880}" "" "" "" "" "" "0" "" "" "" "" "00111355" "" "" "" "1" "" "01540" "submitted Weiss 2007" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00111356" "" "" "" "1" "" "01540" "" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00111357" "" "" "" "1" "" "00006" "{PMID:Souffir 1998:9425228}" "" "" "" "" "" "0" "" "" "" "" "00111358" "" "" "" "1" "" "00006" "{PMID:FitzGerald 1996:8710906}" "" "" "" "" "" "0" "" "" "" "" "00111359" "" "" "" "1" "" "00006" "" "" "F" "" "Netherlands" "" "0" "" "" "Dutch" "" "00111360" "" "" "" "1" "" "00006" "" "SSCV on tumor DNA as well as normal DNA" "" "" "Germany" "" "0" "" "" "" "" "00111361" "" "" "" "1" "" "00006" "{PMID:Monzon 1998:9516223}" "" "" "" "" "" "0" "" "" "" "" "00111362" "" "" "" "1" "" "00006" "{PMID:Lamperska 2002:12362978}" "" "" "" "" "" "0" "" "" "" "" "00111363" "" "" "" "1" "" "00006" "{PMID:Ruas 1998:9823374}" "" "" "" "" "" "0" "" "" "" "" "00111364" "" "" "" "1" "" "00006" "{PMID:Fargnoli 1998:9856841}" "" "" "" "" "" "0" "" "" "" "" "00111365" "" "" "" "1" "" "00006" "{PMID:Souffir 1998:9425228}" "" "" "" "" "" "0" "" "" "" "" "00111366" "" "" "" "1" "" "00006" "{PMID:Gruis 1995a:7640518}" "" "" "" "" "" "0" "" "" "" "" "00111367" "" "" "" "150" "" "00657" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00111368" "" "" "" "1" "" "00006" "{PMID:Iwato 2000:10786670}" "" "" "" "" "" "0" "" "" "" "" "00111369" "" "" "" "2" "" "00006" "{PMID:Bishop 2002:12072543}" "" "" "" "" "" "0" "" "" "" "" "00111370" "" "" "" "1" "" "00006" "{PMID:Monnerat 2007:17624602}" "" "" "" "France" "" "0" "" "" "" "" "00111371" "" "" "" "1" "" "00006" "{PMID:Helsing 2008:18023021}" "" "" "" "" "" "0" "" "" "" "" "00111435" "" "" "" "1" "" "00006" "{PMID:Orlow 2007:17218939}" "" "" "" "" "" "0" "" "" "" "" "00111436" "" "" "" "1" "" "00006" "{PMID:Orlow 2007:17218939}" "" "" "" "" "" "0" "" "" "" "" "00111437" "" "" "" "1" "" "00006" "{PMID:Ruas 1998:9823374}" "" "" "" "" "" "0" "" "" "" "" "00111438" "" "" "" "1" "" "00006" "{PMID:Helsing 2008:18023021}" "" "" "" "" "" "0" "" "" "" "" "00111439" "" "" "" "1" "" "00006" "{PMID:Hussussian 1994:7987387}" "" "" "" "" "" "0" "" "" "" "" "00111440" "" "" "" "1" "" "00006" "{PMID:Newton Bishop 1999:10390011}" "" "" "" "" "" "0" "" "" "" "" "00111441" "" "" "" "1" "" "00006" "{PMID:Ruas 1998:9823374}" "" "" "" "" "" "0" "" "" "" "" "00111442" "" "" "" "1" "" "00006" "{PMID:Ruas 1998:9823374}" "" "" "" "" "" "0" "" "" "" "" "00111443" "" "" "" "1" "" "00006" "{PMID:Orlow 2007:17218939}" "" "" "" "" "" "0" "" "" "" "" "00111444" "" "" "" "1" "" "00006" "{PMID:Ruas 1998:9823374}" "" "" "" "" "" "0" "" "" "" "" "00111445" "" "" "" "1" "" "00006" "{PMID:Orlow 2007:17218939}" "" "" "" "" "" "0" "" "" "" "" "00111446" "" "" "" "1" "" "00006" "{PMID:Goldstein 2007:16905682}" "" "" "" "" "" "0" "" "" "" "" "00111447" "" "" "" "1" "" "00006" "{PMID:Ruas 1998:9823374}" "" "" "" "" "" "0" "" "" "" "" "00111448" "" "" "" "1" "" "00006" "{PMID:Begg 2005:16234564}" "" "" "" "" "" "0" "" "" "" "" "00111449" "" "" "" "1" "" "00006" "{PMID:Bishop 2002:12072543}" "" "" "" "" "" "0" "" "" "" "" "00111450" "" "" "" "1" "" "00006" "{PMID:Ruas 1998:9823374}" "" "" "" "" "" "0" "" "" "" "" "00111451" "" "" "" "1" "" "00006" "{PMID:Bishop 2002:12072543}" "" "" "" "" "" "0" "" "" "" "" "00111452" "" "" "" "1" "" "00006" "{PMID:Platz 1997:9168184}" "" "" "" "" "" "0" "" "" "" "" "00111453" "" "" "" "1" "" "00006" "{PMID:Orlow 2007:17218939}" "" "" "" "" "" "0" "" "" "" "" "00111454" "" "" "" "1" "" "00006" "{PMID:Ruas 1998:9823374}" "" "" "" "" "" "0" "" "" "" "" "00111455" "" "" "" "1" "" "00006" "{PMID:Kannengiesser 2007:17492760}" "" "" "" "" "" "0" "" "" "" "" "00111456" "" "" "" "1" "" "00006" "{PMID:Harland 1997:9328469}" "" "F" "" "" "" "0" "" "" "" "" "00111457" "" "" "" "1" "" "00006" "{PMID:Ruiz 1999:10874641}" "" "" "" "" "" "0" "" "" "" "" "00111458" "" "" "" "1" "" "00006" "{PMID:Orlow 2007:17218939}" "" "" "" "" "" "0" "" "" "" "" "00111459" "" "" "" "1" "" "00006" "{PMID:Bishop 2002:12072543}" "" "" "" "" "" "0" "" "" "" "" "00111460" "" "" "" "1" "" "00006" "{PMID:Goldstein 2007:16905682}" "" "" "" "" "" "0" "" "" "" "" "00111461" "" "" "" "1" "" "00006" "{PMID:Ruas 1999:10498896}" "" "" "" "" "" "0" "" "" "" "" "00111462" "" "" "" "1" "" "00006" "{PMID:Orlow 2007:17218939}" "" "" "" "" "" "0" "" "" "" "" "00111463" "" "" "" "1" "" "00006" "{PMID:Ruas 1998:9823374}" "" "" "" "" "" "0" "" "" "" "" "00111464" "" "" "" "1" "" "00006" "{PMID:Fargnoli 1998:9856841}" "" "" "" "" "" "0" "" "" "" "" "00111465" "" "" "" "1" "" "00006" "{PMID:Goldstein 2007:16905682}" "" "" "" "" "" "0" "" "" "" "" "00111466" "" "" "" "1" "" "00006" "{PMID:Goldstein 2007:16905682}" "" "" "" "" "" "0" "" "" "" "" "00111467" "" "" "" "1" "" "00006" "{PMID:Harland 2005b:15761864}" "" "" "" "" "" "0" "" "" "" "" "00111468" "" "" "" "1" "" "00006" "{PMID:Goldstein 2007:16905682}" "" "" "" "" "" "0" "" "" "" "" "00111469" "" "" "" "1" "" "00006" "{PMID:Goldstein 2008:18178632}" "" "" "" "" "" "0" "" "" "" "" "00111470" "" "" "" "1" "" "00006" "{PMID:Ruas 1998:9823374}" "" "" "" "" "" "0" "" "" "" "" "00111471" "" "" "" "1" "" "00006" "{PMID:Goldstein 2007:16905682}" "" "" "" "" "" "0" "" "" "" "" "00111472" "" "" "" "1" "" "00006" "{PMID:Ruas 1998:9823374}" "" "" "" "" "" "0" "" "" "" "" "00111473" "" "" "" "1" "" "00006" "{PMID:Soufir 1998:9425228}" "" "" "" "" "" "0" "" "" "" "" "00111474" "" "" "" "1" "" "00006" "{PMID:Helsing 2008:18023021}" "" "" "" "" "" "0" "" "" "" "" "00111475" "" "" "" "1" "" "00006" "{PMID:Harland 1997:9328469}" "" "" "" "" "" "0" "" "" "" "" "00111476" "" "" "" "1" "" "00006" "{PMID:Ruas 1998:9823374}" "" "" "" "" "" "0" "" "" "" "" "00111477" "" "" "" "1" "" "00006" "{PMID:Walker 1995:8595405}" "" "" "" "" "" "0" "" "" "" "" "00111478" "" "" "" "1" "" "00006" "{PMID:Bishop 2002:12072543}" "" "" "" "" "" "0" "" "" "" "" "00111479" "" "" "" "1" "" "00006" "{PMID:Orlow 2007:17218939}" "" "" "" "" "" "0" "" "" "" "" "00111480" "" "" "" "1" "" "00006" "{PMID:Orlow 2007:17218939}" "" "" "" "" "" "0" "" "" "" "" "00111481" "" "" "" "1" "" "00006" "{PMID:Orlow 2007:17218939}" "" "" "" "" "" "0" "" "" "" "" "00111482" "" "" "" "1" "" "00006" "{PMID:Moore 2000:11058911}" "" "" "" "" "" "0" "" "" "" "" "00111483" "" "" "" "1" "" "00006" "{PMID:Ruas 1999:10498896}" "" "" "" "" "" "0" "" "" "" "" "00111484" "" "" "" "1" "" "00006" "{PMID:Hussussian 1994:7987387}" "" "" "" "" "" "0" "" "" "" "" "00111485" "" "" "" "1" "" "00006" "{PMID:Ruas 1998:9823374}" "" "" "" "" "" "0" "" "" "" "" "00111486" "" "" "" "1" "" "00006" "{PMID:Loo 2003:14508519}" "" "" "" "" "" "0" "" "" "" "" "00111487" "" "" "" "1" "" "00006" "{PMID:Ruas 1998:9823374}" "" "" "" "" "" "0" "" "" "" "" "00111488" "" "" "" "1" "" "00006" "{PMID:Orlow 2007:17218939}" "" "" "" "" "" "0" "" "" "" "" "00111489" "" "" "" "1" "" "00006" "{PMID:FitzGerald 1996:8710906}" "" "" "" "" "" "0" "" "" "" "" "00111490" "" "" "" "1" "" "00006" "{PMID:Ruas 1998:9823374}" "" "" "" "" "" "0" "" "" "" "" "00111491" "" "" "" "1" "" "00006" "{PMID:Ruas 1998:9823374}" "" "" "" "" "" "0" "" "" "" "" "00111492" "" "" "" "1" "" "00006" "{PMID:Goldstein 2007:16905682}" "" "" "" "" "" "0" "" "" "" "" "00111493" "" "" "" "1" "" "00006" "{PMID:Ruas 1998:9823374}" "" "" "" "" "" "0" "" "" "" "" "00111494" "" "" "" "1" "" "00006" "{PMID:Ranade 1995:7647780}" "" "" "" "" "" "0" "" "" "" "" "00111495" "" "" "" "1" "" "00006" "{PMID:Orlow 2007:17218939}" "" "" "" "" "" "0" "" "" "" "" "00111496" "" "" "" "1" "" "00006" "{PMID:Yakobson 2003:12700603}" "" "" "" "" "" "0" "" "" "" "" "00111497" "" "" "" "1" "" "00006" "{PMID:Orlow 2007:17218939}" "" "" "" "" "" "0" "" "" "" "" "00111498" "" "" "" "1" "" "00006" "{PMID:Hashemi 2002:12175554}" "" "" "" "" "" "0" "" "" "" "" "00111499" "" "" "" "1" "" "00006" "{PMID:Bishop 2002:12072543}" "" "" "" "" "" "0" "" "" "" "" "00111500" "" "" "" "1" "" "00006" "{PMID:Ruas 1998:9823374}" "" "" "" "" "" "0" "" "" "" "" "00111501" "" "" "" "1" "" "00006" "{PMID:Landi 2004:15235029}" "" "" "" "" "" "0" "" "" "" "" "00111502" "" "" "" "1" "" "00006" "{PMID:Aitken 1999:10070944}" "" "" "" "" "" "0" "" "" "" "" "00111503" "" "" "" "1" "" "00006" "{PMID:Bishop 2002:12072543}, {PMID:Goldstein 2007:16905682}" "" "" "" "" "" "0" "" "" "" "" "00111504" "" "" "" "1" "" "00006" "{PMID:Goldstein 2007:16905682}" "" "" "" "" "" "0" "" "" "" "" "00111505" "" "" "" "1" "" "00006" "{PMID:Ruas 1998:9823374}" "" "" "" "" "" "0" "" "" "" "" "00111506" "" "" "" "1" "" "00006" "{PMID:Ruas 1998:9823374}" "" "" "" "" "" "0" "" "" "" "" "00111507" "" "" "" "1" "" "00006" "{PMID:Harland 1997:9328469}" "" "" "" "" "" "0" "" "" "" "" "00111508" "" "" "" "1" "" "00006" "{PMID:Della Torre 2001:11556834}" "" "" "" "" "" "0" "" "" "" "" "00111509" "" "" "" "1" "" "00006" "{PMID:Ruas 1998:9823374}" "" "" "" "" "" "0" "" "" "" "" "00111510" "" "" "" "1" "" "00006" "{PMID:Gruis 1995b:7670475}" "" "" "" "" "" "0" "" "" "" "" "00111511" "" "" "" "1" "" "00006" "{PMID:FitzGerald 1996:8710906}" "" "" "" "" "" "0" "" "" "" "" "00111512" "" "" "" "1" "" "00006" "{PMID:Auroy 2001:11579459}" "" "" "" "" "" "0" "" "" "" "" "00111513" "" "" "" "1" "" "00006" "{PMID:Becker 2001:11595726}" "" "" "" "" "" "0" "" "" "" "" "00111514" "" "" "" "1" "" "00006" "{PMID:Begg 2005:16234564}" "" "" "" "" "" "0" "" "" "" "" "00111515" "" "" "" "1" "" "00006" "{PMID:Begg 2005:16234564}" "" "" "" "" "" "0" "" "" "" "" "00111516" "" "" "" "1" "" "00006" "{PMID:Begg 2005:16234564}" "" "" "" "" "" "0" "" "" "" "" "00111517" "" "" "" "1" "" "00006" "{PMID:Begg 2005:16234564}" "" "" "" "" "" "0" "" "" "" "" "00111518" "" "" "" "1" "" "00006" "{PMID:Begg 2005:16234564}" "" "" "" "" "" "0" "" "" "" "" "00111519" "" "" "" "1" "" "00006" "{PMID:Begg 2005:16234564}" "" "" "" "" "" "0" "" "" "" "" "00111520" "" "" "" "1" "" "00006" "{PMID:Bishop 2002:12072543}" "" "" "" "" "" "0" "" "" "" "" "00111521" "" "" "" "1" "" "00006" "{PMID:Bishop 2002:12072543}" "" "" "" "" "" "0" "" "" "" "" "00111522" "" "" "" "1" "" "00006" "{PMID:Bishop 2002:12072543}" "" "" "" "" "" "0" "" "" "" "" "00111523" "" "" "" "1" "" "00006" "{PMID:Bishop 2002:12072543}" "" "" "" "" "" "0" "" "" "" "" "00111524" "" "" "" "1" "" "00006" "{PMID:Bishop 2002:12072543}" "" "" "" "" "" "0" "" "" "" "" "00111525" "" "" "" "1" "" "00006" "{PMID:Bishop 2002:12072543}" "" "" "" "" "" "0" "" "" "" "" "00111526" "" "" "" "1" "" "00006" "{PMID:Bishop 2002:12072543}" "" "" "" "" "" "0" "" "" "" "" "00111527" "" "" "" "1" "" "00006" "{PMID:Bishop 2002:12072543}" "" "" "" "" "" "0" "" "" "" "" "00111528" "" "" "" "1" "" "00006" "{PMID:Bishop 2002:12072543}" "" "" "" "" "" "0" "" "" "" "" "00111529" "" "" "" "1" "" "00006" "{PMID:Bishop 2002:12072543}" "" "" "" "" "" "0" "" "" "" "" "00111530" "" "" "" "1" "" "00006" "{PMID:Fargnoli 1998:9856841}" "" "" "" "" "" "0" "" "" "" "" "00111531" "" "" "" "1" "" "00006" "{PMID:Flores 1997:9416844}" "" "" "" "" "" "0" "" "" "" "" "00111532" "" "" "" "1" "" "00006" "{PMID:Gerdes 2000:11075991}" "" "" "" "" "" "0" "" "" "" "" "00111533" "" "" "" "1" "" "00006" "{PMID:Goldstein 2007:16905682}" "" "" "" "" "" "0" "" "" "" "" "00111534" "" "" "" "1" "" "00006" "{PMID:Goldstein 2007:16905682}" "" "" "" "" "" "0" "" "" "" "" "00111535" "" "" "" "1" "" "00006" "{PMID:Goldstein 2007:16905682}" "" "F" "" "" "" "0" "" "" "" "" "00111536" "" "" "" "1" "" "00006" "{PMID:Goldstein 2007:16905682}" "" "" "" "" "" "0" "" "" "" "" "00111537" "" "" "" "1" "" "00006" "{PMID:Goldstein 2007:16905682}" "" "" "" "" "" "0" "" "" "" "" "00111538" "" "" "" "1" "" "00006" "{PMID:Goldstein 2007:16905682}" "" "" "" "" "" "0" "" "" "" "" "00111539" "" "" "" "1" "" "00006" "{PMID:Goldstein 2007:16905682}" "" "" "" "" "" "0" "" "" "" "" "00111540" "" "" "" "1" "" "00006" "{PMID:Goldstein 2007:16905682}" "" "" "" "" "" "0" "" "" "" "" "00111541" "" "" "" "1" "" "00006" "{PMID:Helsing 2008:18023021}" "" "" "" "" "" "0" "" "" "" "" "00111542" "" "" "" "1" "" "00006" "{PMID:Holland 1999:10398427}" "" "" "" "" "" "0" "" "" "" "" "00111543" "" "" "" "1" "" "00006" "{PMID:Kannengiesser 2007:17492760}" "" "" "" "" "" "0" "" "" "" "" "00111544" "" "" "" "5" "" "00006" "{PMID:Lang 2005:16307646}" "" "F;M" "" "Scotland" "" "0" "" "" "" "16307646-Fam19" "00111545" "" "" "" "1" "" "00006" "{PMID:MacKie 1998:9699728}" "" "" "" "" "" "0" "" "" "" "" "00111546" "" "" "" "1" "" "00006" "{PMID:MacKie 1998:9699728}" "" "" "" "" "" "0" "" "" "" "" "00111547" "" "" "" "1" "" "00006" "{PMID:MacKie 1998:9699728}" "" "" "" "" "" "0" "" "" "" "" "00111548" "" "" "" "1" "" "00006" "{PMID:Mantelli 2002:11807902}" "" "" "" "" "" "0" "" "" "" "" "00111549" "" "" "" "1" "" "00006" "{PMID:Monzon 1998:9516223}" "" "" "" "" "" "0" "" "" "" "" "00111550" "" "" "" "1" "" "00006" "{PMID:Moskaluk 1998:10627132}" "" "" "" "" "" "0" "" "" "" "" "00111551" "" "" "" "1" "" "00006" "{PMID:Orlow 2007:17218939}" "" "" "" "" "" "0" "" "" "" "" "00111552" "" "" "" "1" "" "00006" "{PMID:Orlow 2007:17218939}" "" "" "" "" "" "0" "" "" "" "" "00111553" "" "" "" "1" "" "00006" "{PMID:Platz 1997:9168184}" "" "" "" "" "" "0" "" "" "" "" "00111554" "" "" "" "1" "" "00006" "{PMID:Puig 1997:9439668}" "" "" "" "" "" "0" "" "" "" "" "00111555" "" "" "" "1" "" "00006" "{PMID:Ranade 1995:7647780}" "" "" "" "" "" "0" "" "" "" "" "00111556" "" "" "" "1" "" "00006" "{PMID:Ruas 1998:9823374}" "" "" "" "" "" "0" "" "" "" "" "00111557" "" "" "" "1" "" "00006" "{PMID:Ruas 1998:9823374}" "" "" "" "" "" "0" "" "" "" "" "00111558" "" "" "" "1" "" "00006" "{PMID:Ruas 1998:9823374}" "" "" "" "" "" "0" "" "" "" "" "00111559" "" "" "" "1" "" "00006" "{PMID:Ruas 1998:9823374}" "" "" "" "" "" "0" "" "" "" "" "00111560" "" "" "" "1" "" "00006" "{PMID:Schraml 2001:11159196}" "" "" "" "" "" "0" "" "" "" "" "00111561" "" "" "" "1" "" "00006" "{PMID:Smith-Sorensen 1996:8723678}" "" "" "" "" "" "0" "" "" "" "" "00111562" "" "" "" "1" "" "00006" "{PMID:Walker 1995:8595405}" "" "" "" "" "" "0" "" "" "" "" "00111563" "" "" "" "1" "" "00006" "Ruas M 1998" "" "" "" "" "" "0" "" "" "" "" "00111564" "" "" "" "1" "" "00006" "submitted Weiss" "" "" "" "" "" "0" "" "" "" "" "00111565" "" "" "" "1" "" "00006" "{PMID:Bishop 2002:12072543}" "" "" "" "" "" "0" "" "" "" "" "00111566" "" "" "" "1" "" "00006" "{PMID:Bishop 2002:12072543}" "" "" "" "" "" "0" "" "" "" "" "00111567" "" "" "" "1" "" "00006" "{PMID:Bishop 2002:12072543}" "" "" "" "" "" "0" "" "" "" "" "00111568" "" "" "" "1" "" "00006" "{PMID:Bishop 2002:12072543}" "" "" "" "" "" "0" "" "" "" "" "00111569" "" "" "" "1" "" "00006" "{PMID:Bishop 2002:12072543}" "" "" "" "" "" "0" "" "" "" "" "00111570" "" "" "" "1" "" "00006" "{PMID:Eliason 2006:16397522}" "one family" "" "" "United States" "" "0" "" "" "Utah" "16397522-Fam" "00111571" "" "" "" "1" "" "00006" "{PMID:Goldstein 2007:16905682}" "" "" "" "" "" "0" "" "" "" "" "00111572" "" "" "" "1" "" "00006" "{PMID:Goldstein 2007:16905682}" "" "" "" "" "" "0" "" "" "" "" "00111573" "" "" "" "1" "" "00006" "{PMID:Goldstein 2007:16905682}" "" "" "" "" "" "0" "" "" "" "" "00111574" "" "" "" "1" "" "00006" "{PMID:Goldstein 2007:16905682}" "" "" "" "" "" "0" "" "" "" "" "00111575" "" "" "" "1" "" "00006" "{PMID:Goldstein 2007:16905682}" "" "" "" "" "" "0" "" "" "" "" "00111576" "" "" "" "1" "" "00006" "{PMID:Goldstein 2007:16905682}" "" "" "" "" "" "0" "" "" "" "" "00111577" "" "" "" "1" "" "00006" "{PMID:Goldstein 2007:16905682}" "" "" "" "" "" "0" "" "" "" "" "00111578" "" "" "" "1" "" "00006" "{PMID:Goldstein 2007:16905682}" "" "" "" "" "" "0" "" "" "" "" "00111579" "" "" "" "1" "" "00006" "{PMID:Goldstein 2007:16905682}" "" "" "" "" "" "0" "" "" "" "" "00111580" "" "" "" "1" "" "00006" "{PMID:Harland 1997:9328469}" "" "" "" "" "" "0" "" "" "" "" "00111581" "" "" "" "1" "" "00006" "{PMID:Holland 1999:10398427}" "" "" "" "" "" "0" "" "" "" "" "00111582" "" "" "" "1" "" "00006" "{PMID:Huber 2006:16470311}" "" "" "" "" "" "0" "" "" "" "" "00111583" "" "" "" "1" "" "00006" "{PMID:Huot 2002:12417717}" "" "" "" "" "" "0" "" "" "" "" "00111584" "" "" "" "1" "" "00006" "{PMID:Loo 2003:14508519}" "" "" "" "" "" "0" "" "" "" "" "00111585" "" "" "" "1" "" "00006" "{PMID:Loo 2003:14508519}" "" "" "" "" "" "0" "" "" "" "" "00111586" "" "" "" "1" "" "00006" "{PMID:Orlow 2001:11687599}" "" "" "" "" "" "0" "" "" "" "" "00111587" "" "" "" "1" "" "00006" "{PMID:Orlow 2001:11687599}" "" "" "" "" "" "0" "" "" "" "" "00111588" "" "" "" "1" "" "00006" "{PMID:Orlow 2001:11687599}" "" "" "" "" "" "0" "" "" "" "" "00111589" "" "" "" "1" "" "00006" "{PMID:Orlow 2007:17218939}" "" "" "" "" "" "0" "" "" "" "" "00111590" "" "" "" "1" "" "00006" "{PMID:Orlow 2007:17218939}" "" "" "" "" "" "0" "" "" "" "" "00111591" "" "" "" "1" "" "00006" "{PMID:Orlow 2007:17218939}" "" "" "" "" "" "0" "" "" "" "" "00111592" "" "" "" "1" "" "00006" "{PMID:Orlow 2007:17218939}" "" "" "" "" "" "0" "" "" "" "" "00111593" "" "" "" "1" "" "00006" "{PMID:Orlow 2007:17218939}" "" "" "" "" "" "0" "" "" "" "" "00111594" "" "" "" "1" "" "00006" "{PMID:Pollock 2001:11477665}" "" "" "" "" "" "0" "" "" "" "" "00111595" "" "" "" "1" "" "00006" "{PMID:Rizos 2001:11518711}" "" "" "" "" "" "0" "" "" "" "" "00111596" "" "" "" "1" "" "00006" "{PMID:Ruas 1998:9823374}" "" "" "" "" "" "0" "" "" "" "" "00111597" "" "" "" "1" "" "00006" "{PMID:Ruas 1998:9823374}" "" "F" "" "" "" "0" "" "" "" "" "00111598" "" "" "" "1" "" "00006" "{PMID:Ruas 1998:9823374}" "" "" "" "" "" "0" "" "" "" "" "00111599" "" "" "" "1" "" "00006" "{PMID:Ruas 1998:9823374}" "" "" "" "" "" "0" "" "" "" "" "00111600" "" "" "" "1" "" "00006" "{PMID:Ruiz 1999:10874641}" "" "" "" "" "" "0" "" "" "" "" "00111601" "" "" "" "1" "" "00006" "{PMID:Soufir 1998:9425228}" "" "" "" "" "" "0" "" "" "" "" "00111602" "" "" "" "1" "" "00006" "{PMID:Spica 2006:16614725}" "" "" "" "" "" "0" "" "" "" "" "00111603" "" "" "" "1" "" "00006" "{PMID:Walker 1999:1038976}" "" "" "" "" "" "0" "" "" "" "" "00111604" "" "" "" "1" "" "00006" "{PMID:Whiteman 1997:9326917}" "" "" "" "" "" "0" "" "" "" "" "00111605" "" "" "" "1" "" "00006" "{PMID:Begg 2005:16234564}" "" "" "" "" "" "0" "" "" "" "" "00111606" "" "" "" "1" "" "00006" "{PMID:Begg 2005:16234564}" "" "" "" "" "" "0" "" "" "" "" "00111607" "" "" "" "1" "" "00006" "{PMID:Begg 2005:16234564}" "" "" "" "" "" "0" "" "" "" "" "00111608" "" "" "" "1" "" "00006" "{PMID:Begg 2005:16234564}" "" "" "" "" "" "0" "" "" "" "" "00111609" "" "" "" "1" "" "00006" "{PMID:Begg 2005:16234564}" "" "" "" "" "" "0" "" "" "" "" "00111610" "" "" "" "1" "" "00006" "{PMID:Begg 2005:16234564}" "" "" "" "" "" "0" "" "" "" "" "00111611" "" "" "" "1" "" "00006" "{PMID:Bishop 2002:12072543}" "" "" "" "" "" "0" "" "" "" "" "00111612" "" "" "" "1" "" "00006" "{PMID:Bishop 2002:12072543}" "" "" "" "" "" "0" "" "" "" "" "00111613" "" "" "" "1" "" "00006" "{PMID:Bishop 2002:12072543}" "" "" "" "" "" "0" "" "" "" "" "00111614" "" "" "" "1" "" "00006" "{PMID:Borg 2000:10922411}" "" "" "" "" "" "0" "" "" "" "" "00111615" "" "" "" "1" "" "00006" "{PMID:Chaudru 2004:15150307}" "" "" "" "" "" "0" "" "" "" "" "00111616" "" "" "" "1" "" "00006" "{PMID:Chaudru 2004:15150307}" "" "" "" "" "" "0" "" "" "" "" "00111617" "" "" "" "1" "" "00006" "{PMID:Chaudru 2004:15150307}" "" "" "" "" "" "0" "" "" "" "" "00111618" "" "" "" "1" "" "00006" "{PMID:Chaudru 2004:15150307}" "" "" "" "" "" "0" "" "" "" "" "00111619" "" "" "" "1" "" "00006" "{PMID:Chaudru 2004:15150307}" "" "" "" "" "" "0" "" "" "" "" "00111620" "" "" "" "1" "" "00006" "{PMID:Chaudru 2004:15150307}" "" "" "" "" "" "0" "" "" "" "" "00111621" "" "" "" "1" "" "00006" "{PMID:Goldstein 2007:16905682}" "" "" "" "" "" "0" "" "" "" "" "00111622" "" "" "" "1" "" "00006" "{PMID:Goldstein 2007:16905682}" "" "" "" "" "" "0" "" "" "" "" "00111623" "" "" "" "1" "" "00006" "{PMID:Goldstein 2007:16905682}" "" "" "" "" "" "0" "" "" "" "" "00111624" "" "" "" "1" "" "00006" "{PMID:Goldstein 2008:18178632}" "" "" "" "" "" "0" "" "" "" "" "00111625" "" "" "" "1" "" "00006" "{PMID:Holland 1995:8570179}" "" "" "" "" "" "0" "" "" "" "" "00111626" "" "" "" "1" "" "00006" "{PMID:Kannengieser 2003:14506702}" "" "" "" "" "" "0" "" "" "" "" "00111627" "" "" "" "1" "" "00006" "{PMID:Monnerat 2007:17624602}" "" "" "" "" "" "0" "" "" "" "" "00111628" "" "" "" "1" "" "00006" "{PMID:Newton Bishop 1999:10390011}" "" "F" "" "" "" "0" "" "" "" "" "00111629" "" "" "" "1" "" "00006" "{PMID:Ohta 1994:7923152}" "" "" "" "" "" "0" "" "" "" "" "00111630" "" "" "" "1" "" "00006" "{PMID:Ruas 1998:9823374}" "" "" "" "" "" "0" "" "" "" "" "00111631" "" "" "" "1" "" "00006" "{PMID:Stratigos 2006:16374456}" "" "" "" "" "" "0" "" "" "" "" "00111632" "" "" "" "1" "" "00006" "{PMID:Walker 1995:8595405}" "" "" "" "" "" "0" "" "" "" "" "00111633" "" "" "" "1" "" "00006" "{PMID:Yu 2002:12352668}" "" "" "" "" "" "0" "" "" "" "" "00111636" "" "" "" "1" "" "00006" "{PMID:Begg 2005:16234564}" "" "" "" "" "" "0" "" "" "" "" "00111637" "" "" "" "1" "" "00006" "{PMID:Bertram 2002:12406345}" "" "" "" "" "" "0" "" "" "" "" "00111638" "" "" "" "1" "" "00006" "{PMID:Goldstein 2007:16905682}" "" "" "" "" "" "0" "" "" "" "" "00111639" "" "" "" "1" "" "00006" "{PMID:Goldstein 2007:16905682}" "" "" "" "" "" "0" "" "" "" "" "00111640" "" "" "" "1" "" "00006" "{PMID:Goldstein 2007:16905682}" "" "" "" "" "" "0" "" "" "" "" "00111641" "" "" "" "1" "" "00006" "{PMID:Goldstein 2007:16905682}" "" "" "" "" "" "0" "" "" "" "" "00111642" "" "" "" "1" "" "00006" "{PMID:Goldstein 2007:16905682}" "" "" "" "" "" "0" "" "" "" "" "00111643" "" "" "" "1" "" "00006" "{PMID:Goldstein 2007:16905682}" "" "" "" "" "" "0" "" "" "" "" "00111644" "" "" "" "1" "" "00006" "{PMID:Goldstein 2007:16905682}" "" "" "" "" "" "0" "" "" "" "" "00111645" "" "" "" "1" "" "00006" "{PMID:Goldstein 2007:16905682}" "" "" "" "" "" "0" "" "" "" "" "00111646" "" "" "" "1" "" "00006" "{PMID:Lal 2000:10719365}" "" "" "" "" "" "0" "" "" "" "" "00111647" "" "" "" "1" "" "00006" "{PMID:Landi 2004:15235029}" "" "" "" "" "" "0" "" "" "" "" "00111648" "" "" "" "2" "" "00006" "{PMID:Lang 2005:16307646}" "" "M" "" "Scotland" "" "0" "" "" "" "16307646Fam28" "00111649" "" "" "" "1" "" "00006" "{PMID:Orlow 2007:17218939}" "" "" "" "" "" "0" "" "" "" "" "00111650" "" "" "" "1" "" "00006" "{PMID:Ruas 1998:9823374}" "" "" "" "" "" "0" "" "" "" "" "00111651" "" "" "" "1" "" "00006" "{PMID:Ruas 1998:9823374}" "" "" "" "" "" "0" "" "" "" "" "00111652" "" "" "" "1" "" "00006" "{PMID:Ruas 1998:9823374}" "" "" "" "" "" "0" "" "" "" "" "00111653" "" "" "" "1" "" "00006" "{PMID:Smith-Sorensen 1996:8723678}" "" "" "" "" "" "0" "" "" "" "" "00111654" "" "" "" "1" "" "00006" "{PMID:Smith-Sorensen 1996:8723678}" "" "" "" "" "" "0" "" "" "" "" "00111656" "" "" "" "1" "" "00006" "{PMID:Chaudru 2004:15150307}" "" "" "" "" "" "0" "" "" "" "" "00111657" "" "" "" "1" "" "00006" "{PMID:Flores 1997:9416844}" "" "" "" "" "" "0" "" "" "" "" "00111658" "" "" "" "1" "" "00006" "{PMID:Goldstein 2007:16905682}" "" "" "" "" "" "0" "" "" "" "" "00111659" "" "" "" "1" "" "00006" "{PMID:Hashemi 2000:11156381}" "" "" "" "" "" "0" "" "" "" "" "00111660" "" "" "" "1" "" "00006" "{PMID:Holland 1999:10398427}" "" "" "" "" "" "0" "" "" "" "" "00111661" "" "" "" "1" "" "00006" "{PMID:Holland 1999:10398427}" "" "" "" "" "" "0" "" "" "" "" "00111662" "" "" "" "3" "" "00006" "{PMID:Lang 2005:16307646}" "" "F;M" "" "" "" "0" "" "" "" "16307646-Fam22" "00111663" "" "" "" "1" "" "00006" "{PMID:Monnerat 2007:17624602}" "" "" "" "" "" "0" "" "" "" "" "00111664" "" "" "" "1" "" "00006" "{PMID:Orlow 2007:17218939}" "" "" "" "" "" "0" "" "" "" "" "00111665" "" "" "" "1" "" "00006" "{PMID:Orlow 2007:17218939}" "" "" "" "" "" "0" "" "" "" "" "00111666" "" "" "" "1" "" "00006" "{PMID:Orlow 2007:17218939}" "" "" "" "" "" "0" "" "" "" "" "00111667" "" "" "" "1" "" "00006" "{PMID:Ruiz 1999:10874641}" "" "" "" "" "" "0" "" "" "" "" "00111668" "" "" "" "1" "" "00006" "{PMID:Florell 2004:15304099}" "" "" "" "" "" "0" "" "" "" "" "00111669" "" "" "" "1" "" "00006" "{PMID:Hashemi 2001:11319798}" "" "" "" "" "" "0" "" "" "" "" "00111670" "" "" "" "1" "" "00006" "{PMID:Hocevar 2006:17167857}" "" "" "" "" "" "0" "" "" "" "" "00111671" "" "" "" "1" "" "00006" "{PMID:Kannengiesser 2007:17492760}" "" "" "" "" "" "0" "" "" "" "" "00111672" "" "" "" "1" "" "00006" "{PMID:Newton Bishop 1999:10390011}" "" "" "" "" "" "0" "" "" "" "" "00111673" "" "" "" "1" "" "00006" "{PMID:Pjanova 2007:17505264}" "" "" "" "" "" "0" "" "" "" "" "00111674" "" "" "" "1" "" "00006" "{PMID:Smith-Sorensen 1996:8723678}" "" "" "" "" "" "0" "" "" "" "" "00111675" "" "" "" "1" "" "00006" "{PMID:Smith-Sorensen 1996:8723678}" "" "" "" "" "" "0" "" "" "" "" "00111677" "" "" "" "1" "" "00006" "{PMID:Begg 2005:16234564}" "" "" "" "" "" "0" "" "" "" "" "00111678" "" "" "" "1" "" "00006" "{PMID:Gold:18178632}" "" "" "" "" "" "0" "" "" "" "" "00111685" "" "" "" "1" "" "00006" "{PMID:Blackwood 2002:12001124}" "" "" "" "" "" "0" "" "" "German, English, Irish" "12001124-M082" "00111686" "" "" "" "1" "" "00006" "{PMID:Blackwood 2002:12001124}" "" "" "" "" "" "0" "" "" "" "12001124-M085" "00111687" "" "" "" "1" "" "00006" "{PMID:Blackwood 2002:12001124}" "" "" "" "Germany" "" "0" "" "" "" "12001124-M041" "00111688" "" "" "" "1" "" "00006" "{PMID:Blackwood 2002:12001124}" "" "" "" "" "" "0" "" "" "" "12001124-M063" "00111689" "" "" "" "2" "" "00006" "{PMID:Lang 2005:16307646}" "" "M" "" "Scotland" "" "0" "" "" "" "16307646-Fam17" "00117189" "" "" "" "1" "" "00006" "{PMID:Eliason 2006:16397522}" "" "" "" "United States" "" "0" "" "" "Utah" "16397522-Fam" "00117190" "" "" "" "1" "" "00006" "{PMID:Eliason 2006:16397522}" "2 families" "" "" "United States" "" "0" "" "" "Utah" "16397522-Fam" "00117191" "" "" "" "1" "" "00006" "{PMID:Eliason 2006:16397522}" "" "" "" "United States" "" "0" "" "" "Utah" "16397522-Fam" "00117192" "" "" "" "3" "" "00006" "{PMID:Eliason 2006:16397522}" "3 families" "" "" "United States" "" "0" "" "" "Utah" "16397522-Fam" "00117193" "" "" "" "1" "" "00006" "{PMID:Eliason 2006:16397522}" "" "" "" "United States" "" "0" "" "" "Utah" "16397522-Fam" "00117194" "" "" "" "1" "" "00006" "{PMID:Eliason 2006:16397522}" "" "" "" "United States" "" "0" "" "" "Utah" "16397522-Fam" "00155215" "" "" "" "1" "" "00657" "" "" "F" "?" "Netherlands" "57y" "0" "" "" "" "" "00155216" "" "" "" "1" "" "00657" "" "" "F" "?" "Netherlands" "" "0" "" "" "" "" "00245792" "" "" "" "1" "" "03356" "{PMID:Schwartz 2019:31432501}" "" "" "" "" "" "0" "" "" "" "" "00245793" "" "" "" "1" "" "03356" "{PMID:Schwartz 2019:31432501}" "" "" "" "" "" "0" "" "" "" "" "00245794" "" "" "" "1" "" "03356" "{PMID:Schwartz 2019:31432501}" "" "" "" "" "" "0" "" "" "" "" "00245795" "" "" "" "1" "" "03356" "{PMID:Schwartz 2019:31432501}" "" "" "" "" "" "0" "" "" "" "" "00245796" "" "" "" "1" "" "03356" "{PMID:Schwartz 2019:31432501}" "" "" "" "" "" "0" "" "" "" "" "00245798" "" "" "" "1" "" "03356" "{PMID:Schwartz 2019:31432501}" "" "" "" "" "" "0" "" "" "" "" "00246488" "" "" "" "1" "" "00643" "{PMID:Fostira 2020:31300551}" "" "" "" "Greece" "" "0" "" "" "" "" "00294833" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294834" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294835" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295228" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295328" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295329" "" "" "" "38" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00376144" "" "" "" "1" "" "00585" "" "" "F" "" "Belgium" "" "0" "" "" "" "" "00402449" "" "" "" "1" "" "04260" "Perez-Becerril et al. (submitted for publication)" "" "" "" "" "" "" "" "" "" "" "00443498" "" "" "" "1" "" "04599" "" "" "M" "" "Mexico" "" "" "" "" "Mexican" "UCDMX006_S6" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 458 "{{individualid}}" "{{diseaseid}}" "00047320" "04296" "00090508" "00091" "00090509" "00091" "00090510" "00000" "00090511" "00091" "00090512" "00091" "00090513" "00000" "00090514" "00091" "00090515" "00091" "00090516" "00091" "00090517" "00091" "00090518" "00091" "00090519" "00091" "00090520" "00091" "00090521" "00091" "00090882" "00091" "00111200" "00926" "00111201" "00926" "00111202" "00926" "00111203" "00926" "00111204" "00926" "00111205" "00926" "00111206" "01432" "00111207" "00926" "00111208" "00926" "00111209" "00926" "00111210" "00926" "00111211" "00198" "00111212" "00926" "00111213" "00926" "00111214" "00926" "00111215" "00198" "00111216" "02597" "00111217" "02597" "00111218" "00926" "00111219" "00926" "00111220" "00926" "00111221" "00926" "00111222" "00198" "00111223" "02597" "00111224" "00926" "00111225" "00926" "00111226" "00926" "00111227" "00926" "00111228" "00926" "00111229" "00198" "00111230" "00926" "00111231" "01432" "00111232" "01432" "00111233" "01432" "00111234" "00926" "00111235" "01432" "00111236" "01432" "00111237" "00926" "00111238" "00926" "00111239" "00926" "00111240" "00926" "00111241" "00926" "00111242" "00198" "00111243" "00926" "00111244" "00926" "00111245" "00926" "00111246" "00926" "00111247" "00926" "00111248" "00926" "00111249" "00926" "00111250" "00926" "00111251" "00926" "00111252" "00926" "00111253" "00198" "00111254" "00926" "00111255" "00926" "00111256" "00926" "00111257" "00926" "00111258" "01432" "00111259" "00198" "00111260" "00926" "00111261" "00198" "00111262" "00926" "00111263" "00926" "00111264" "00198" "00111265" "00198" "00111266" "00926" "00111267" "00926" "00111268" "00926" "00111269" "02597" "00111270" "00926" "00111271" "00198" "00111272" "00198" "00111273" "00198" "00111274" "00198" "00111275" "00198" "00111276" "00926" "00111277" "00198" "00111278" "00926" "00111279" "00198" "00111280" "00198" "00111281" "00198" "00111282" "00926" "00111283" "00926" "00111284" "00926" "00111285" "00926" "00111286" "00926" "00111287" "00926" "00111288" "00198" "00111289" "00926" "00111290" "00926" "00111291" "00926" "00111292" "00926" "00111293" "00926" "00111294" "00926" "00111295" "00926" "00111296" "00198" "00111297" "00926" "00111298" "00198" "00111299" "00926" "00111300" "00926" "00111301" "00926" "00111302" "00926" "00111303" "00926" "00111304" "00926" "00111305" "00926" "00111306" "00198" "00111307" "00926" "00111308" "00198" "00111309" "00926" "00111310" "00926" "00111311" "00926" "00111312" "00926" "00111313" "00926" "00111314" "00926" "00111315" "00926" "00111316" "00926" "00111317" "00926" "00111318" "00926" "00111319" "00926" "00111320" "00926" "00111321" "00926" "00111322" "00926" "00111323" "00926" "00111324" "00198" "00111325" "00198" "00111326" "00926" "00111327" "00926" "00111328" "00926" "00111329" "00926" "00111330" "00926" "00111331" "00926" "00111332" "00926" "00111333" "00926" "00111334" "00926" "00111335" "00926" "00111336" "00926" "00111337" "00926" "00111338" "00926" "00111339" "00926" "00111340" "00926" "00111341" "00926" "00111342" "00926" "00111343" "00926" "00111344" "00926" "00111345" "00926" "00111346" "00926" "00111347" "00926" "00111348" "00926" "00111349" "00926" "00111350" "00198" "00111351" "00926" "00111352" "00926" "00111353" "00926" "00111354" "00926" "00111355" "00926" "00111356" "00926" "00111357" "00926" "00111358" "00926" "00111359" "01432" "00111360" "00926" "00111361" "00198" "00111362" "00926" "00111363" "00926" "00111364" "00926" "00111365" "00926" "00111366" "00926" "00111367" "02597" "00111368" "00926" "00111369" "00926" "00111370" "00926" "00111371" "00926" "00111435" "00926" "00111436" "00926" "00111437" "00926" "00111438" "00926" "00111439" "00926" "00111440" "00926" "00111441" "00926" "00111442" "00926" "00111443" "00926" "00111444" "00926" "00111445" "00926" "00111446" "00926" "00111447" "00926" "00111448" "00926" "00111449" "00926" "00111450" "00926" "00111451" "00926" "00111452" "00926" "00111453" "00926" "00111454" "00926" "00111455" "00926" "00111456" "00926" "00111457" "00926" "00111458" "00926" "00111459" "00926" "00111460" "00926" "00111461" "01432" "00111462" "00926" "00111463" "00926" "00111464" "00926" "00111465" "02597" "00111466" "00926" "00111467" "00926" "00111468" "00926" "00111469" "00198" "00111470" "00926" "00111471" "00926" "00111472" "00926" "00111473" "00926" "00111474" "00926" "00111475" "00926" "00111476" "00926" "00111477" "00926" "00111478" "00926" "00111479" "00926" "00111480" "00926" "00111481" "00198" "00111482" "00926" "00111483" "00926" "00111484" "00926" "00111485" "00926" "00111486" "00926" "00111487" "00926" "00111488" "00926" "00111489" "00926" "00111490" "00926" "00111491" "00926" "00111492" "00926" "00111493" "00926" "00111494" "00926" "00111495" "00926" "00111496" "00926" "00111497" "00926" "00111498" "00926" "00111499" "00926" "00111500" "00926" "00111501" "00926" "00111502" "00198" "00111503" "00926" "00111504" "00926" "00111505" "00926" "00111506" "00926" "00111507" "00198" "00111508" "00926" "00111509" "00926" "00111510" "00926" "00111511" "00926" "00111512" "00926" "00111513" "00926" "00111514" "00926" "00111515" "00926" "00111516" "00926" "00111517" "00926" "00111518" "00926" "00111519" "00926" "00111520" "00926" "00111521" "00926" "00111522" "00926" "00111523" "00926" "00111524" "00926" "00111525" "00926" "00111526" "00926" "00111527" "00926" "00111528" "00926" "00111529" "00926" "00111530" "00926" "00111531" "00926" "00111532" "00926" "00111533" "00926" "00111534" "00926" "00111535" "00926" "00111536" "00926" "00111537" "00926" "00111538" "00926" "00111539" "00926" "00111540" "00926" "00111541" "01432" "00111542" "00926" "00111543" "00926" "00111544" "00926" "00111545" "00926" "00111546" "00926" "00111547" "00198" "00111548" "00926" "00111549" "00926" "00111550" "02597" "00111551" "00926" "00111552" "00926" "00111553" "00926" "00111554" "00926" "00111555" "00926" "00111556" "00926" "00111557" "00926" "00111558" "00926" "00111559" "00926" "00111560" "00198" "00111561" "00926" "00111562" "00198" "00111563" "00926" "00111564" "00926" "00111565" "00926" "00111566" "00926" "00111567" "00926" "00111568" "00926" "00111569" "00926" "00111570" "00926" "00111571" "00926" "00111572" "00926" "00111573" "00926" "00111574" "00926" "00111575" "00926" "00111576" "00926" "00111577" "00198" "00111578" "00926" "00111579" "00926" "00111580" "00926" "00111581" "00926" "00111582" "00926" "00111583" "00926" "00111584" "02597" "00111585" "00926" "00111586" "00926" "00111587" "00926" "00111588" "00926" "00111589" "00926" "00111590" "00926" "00111591" "00926" "00111592" "00926" "00111593" "00926" "00111594" "00926" "00111595" "00926" "00111596" "00926" "00111597" "00926" "00111598" "00926" "00111599" "00926" "00111600" "00926" "00111601" "00926" "00111602" "00926" "00111603" "00926" "00111604" "00926" "00111605" "00926" "00111606" "00926" "00111607" "00926" "00111608" "00926" "00111609" "00926" "00111610" "00926" "00111611" "00926" "00111612" "00926" "00111613" "00926" "00111614" "00926" "00111615" "00926" "00111616" "00926" "00111617" "00926" "00111618" "00926" "00111619" "00926" "00111620" "00926" "00111621" "00926" "00111622" "00926" "00111623" "00198" "00111624" "00926" "00111625" "00926" "00111626" "00926" "00111627" "00926" "00111628" "00926" "00111629" "00926" "00111630" "00926" "00111631" "00926" "00111632" "00926" "00111633" "00926" "00111636" "00926" "00111637" "00926" "00111638" "00926" "00111639" "00926" "00111640" "00926" "00111641" "00926" "00111642" "00926" "00111643" "00926" "00111644" "00926" "00111645" "00926" "00111646" "00926" "00111647" "00926" "00111648" "00926" "00111649" "00926" "00111650" "00926" "00111651" "00926" "00111652" "00926" "00111653" "00926" "00111654" "00926" "00111656" "00926" "00111657" "00198" "00111658" "00926" "00111659" "00926" "00111660" "00926" "00111661" "00926" "00111662" "00926" "00111663" "00926" "00111664" "00926" "00111665" "00926" "00111666" "00926" "00111667" "00926" "00111668" "00926" "00111669" "00926" "00111670" "00926" "00111671" "00926" "00111672" "00926" "00111673" "00926" "00111674" "00926" "00111675" "00926" "00111677" "00926" "00111678" "00926" "00111685" "00926" "00111686" "00926" "00111687" "00926" "00111688" "00926" "00111689" "00926" "00117189" "00926" "00117190" "00926" "00117191" "00926" "00117192" "00926" "00117193" "00926" "00117194" "00926" "00155215" "02597" "00155216" "02597" "00245792" "00681" "00245793" "00681" "00245794" "00681" "00245795" "00681" "00245796" "00681" "00245798" "05093" "00246488" "00318" "00294833" "00198" "00294834" "00198" "00294835" "00198" "00295228" "00198" "00295328" "00198" "00295329" "00198" "00376144" "00681" "00402449" "01432" "00402449" "05389" "00443498" "05489" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00091, 00198, 00318, 00681, 00926, 01432, 01433, 02597, 04296, 05093, 05389, 05489 ## Count = 172 "{{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/Cysts}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Cancer/Sub_type}}" "{{Phenotype/Eye/Retina}}" "{{Phenotype/Neoplasm}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000034723" "04296" "00047320" "00727" "Unknown" "" "neoplasia, multiple inherited alleles; cutaneous malignant melanoma <55y; Parathyroid chief cell adenoma 55y; Thyroid sclerotic papillary carcinoma 55y; Thyroid C cell hyperplasia 55y" "" "" "" "" "" "" "" "" "" "" "" "" "" "neoplasia, multiple inherited alleles (MINAS)" "" "0000087313" "00926" "00111200" "00640" "Unknown" "" "cancer, melanoma, familial (FM)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087314" "00926" "00111284" "01540" "Unknown" "" "5xM; cancer, melanoma, multiple primary (MPM)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087315" "00926" "00111295" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087316" "00198" "00111306" "00006" "Unknown" "" "neuroblastomas" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087317" "00926" "00111317" "00006" "Unknown" "" "M15+23, DN; MPM" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087318" "00926" "00111328" "01540" "Unknown" "" "2 sibs with M (40,56 yr); 1 sib with B53; cancer, melanoma, familial (FM)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087319" "00926" "00111339" "01540" "Unknown" "" "cancer, melanoma, familial (FM)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087320" "00926" "00111201" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087321" "00926" "00111212" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087322" "02597" "00111223" "01540" "Unknown" "" "PaC55; 2 brothers PaC; cancer, pancreas, familial (FPC)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087323" "00926" "00111234" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087324" "00926" "00111245" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087325" "00926" "00111256" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087326" "00926" "00111267" "00006" "Unknown" "" "FM, MPM, B" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087327" "00926" "00111278" "00006" "Unknown" "" "FM, MPM, B" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087328" "00926" "00111282" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087329" "00926" "00111283" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087330" "00926" "00111285" "00006" "Unknown" "" "MPM" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087331" "00926" "00111287" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087332" "00926" "00111289" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087333" "00926" "00111290" "00006" "Unknown" "" "MPM, FM" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087334" "00926" "00111291" "00006" "Unknown" "" "MPM" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087335" "00926" "00111292" "00006" "Unknown" "" "melanoma 20y, 2 melanomas, no family history" "20y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087336" "00926" "00111293" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087337" "00926" "00111294" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087338" "00926" "00111297" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087339" "00926" "00111299" "00006" "Unknown" "" "FM; MPM; DN" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087340" "00926" "00111300" "00006" "Unknown" "" "MPM" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087341" "00926" "00111301" "00006" "Unknown" "" "MPM" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087342" "00926" "00111302" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087343" "00926" "00111303" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087344" "00926" "00111304" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087345" "00926" "00111305" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087346" "00926" "00111307" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087347" "00926" "00111309" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087348" "00926" "00111310" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087349" "00926" "00111311" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087350" "00926" "00111312" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087351" "00926" "00111313" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087352" "00926" "00111314" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087353" "00926" "00111315" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087354" "00926" "00111316" "00006" "Unknown" "" "PC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087355" "00926" "00111318" "00006" "Unknown" "" "FM; PC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087356" "00926" "00111319" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087357" "00926" "00111320" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087358" "00926" "00111321" "00006" "Unknown" "" "first melanoma 46y, 2 melanoma, mother with breast carcinoma" "46y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087359" "00926" "00111322" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087360" "00926" "00111323" "00006" "Familial" "" "age onset 25y and 28y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087361" "00926" "00111326" "01540" "Unknown" "" "M45;melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087362" "00926" "00111327" "02158" "Familial" "" "multiple melanoma, familial melanoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087363" "00926" "00111329" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087364" "00926" "00111330" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087365" "00926" "00111331" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087366" "00926" "00111332" "00006" "Unknown" "" "FM, MPM" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087367" "00926" "00111333" "00006" "Unknown" "" "Familial Hepatocellular Carcinoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087368" "00926" "00111334" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087369" "00926" "00111335" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087370" "00926" "00111336" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087371" "00926" "00111337" "00006" "Unknown" "" "MPM" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087372" "00926" "00111338" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087373" "00926" "00111340" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087374" "00926" "00111341" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087375" "00926" "00111342" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087376" "00926" "00111343" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087377" "00926" "00111344" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087378" "00926" "00111345" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087379" "00926" "00111346" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087380" "00926" "00111347" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087381" "00926" "00111348" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087382" "00926" "00111349" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087383" "00926" "00111351" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087384" "00926" "00111352" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087385" "00926" "00111353" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087386" "00926" "00111354" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087387" "00926" "00111355" "01540" "Unknown" "" "M52; sister M49; mother M; grandmother PaC52; melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087388" "00926" "00111356" "01540" "Unknown" "" "M35?; father, uncle and cousin M; cancer, melanoma, familial (FM)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087389" "00926" "00111357" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087390" "00926" "00111358" "00006" "Unknown" "" "FM; thyroid cancer, vocal cord cancer, BCC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087391" "01432" "00111359" "00006" "Unknown" "" "M44; melanomas, malignant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087392" "00926" "00111360" "00006" "Unknown" "" "PC, thyroid cancer (anaplastic), vocal cord cancer, BCC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087393" "00926" "00111362" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087394" "00926" "00111363" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087395" "00926" "00111364" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087396" "00926" "00111365" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087397" "00926" "00111366" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087398" "02597" "00111367" "00657" "Familial, autosomal dominant" "" "n=150 carriers of c.225_243del19 (p16-Leiden), Prospectively evaluated for a median of 43 months (median age 51 years), , Melanoma: RR 41.3 (95% CI 22.9-74.6), Pancreatic cancer: RR 80.8 (95% CI 44.7-146), Cancer of lip, mouth, pharynx: RR 18.8 (95% CI 6.05-58.2), Respiratory cancer (including larynx): RR 4.56 (95% CI 1.71-12.1), Carcinoid tumours: RR 119 (95% CI 29.7-475), , Any cancer except melanoma and pancreas: RR 4.31 (95% CI 2.91-6.37), , Sarcoidosis diagnosed in 6/150 individuals (4%); FAMMM" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087399" "00926" "00111368" "00006" "Unknown" "" "york sac tumor (intracranial germ cell tumor)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087400" "00926" "00111369" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087401" "00926" "00111370" "00006" "Unknown" "" "M, B" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087402" "00926" "00111371" "00006" "Unknown" "" "MPM" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087403" "00926" "00111202" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087404" "00926" "00111203" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087405" "00926" "00111204" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087406" "00926" "00111205" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087407" "01432" "00111206" "00006" "Unknown" "" "CMM, PC, endometrialC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087408" "00926" "00111207" "00006" "Unknown" "" "FM, MPM" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087409" "00926" "00111208" "00006" "Unknown" "" "FM, head&neck SCC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087410" "00926" "00111209" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087411" "00926" "00111210" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087412" "00926" "00111213" "02158" "Familial" "" "multiple melanoma, familial melanoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087413" "00926" "00111214" "02158" "Familial" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087414" "02597" "00111216" "00006" "Unknown" "" "FPC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087415" "02597" "00111217" "00006" "Unknown" "" "FPC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087416" "00926" "00111218" "00006" "Unknown" "" "FM, head&neck SCC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087417" "00926" "00111219" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087418" "00926" "00111220" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087419" "00926" "00111221" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087420" "00926" "00111224" "00006" "Familial" "" "2 melanomas, father with basal cell carcinoma" "64y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087421" "00926" "00111225" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087422" "00926" "00111226" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087423" "00926" "00111227" "00006" "Unknown" "" "MPM" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087424" "00926" "00111228" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087425" "00926" "00111230" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087426" "01432" "00111231" "00006" "Unknown" "" "M21+34;melanomas, malignant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087427" "01432" "00111232" "00006" "Unknown" "" "melanomas, malignant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087428" "01432" "00111233" "00006" "Unknown" "" "5xM;melanomas, malignant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087429" "01432" "00111235" "00006" "Unknown" "" "melanomas, malignant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087430" "01432" "00111236" "00006" "Unknown" "" "2xM;melanomas, malignant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087431" "00926" "00111237" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087432" "00926" "00111238" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087433" "00926" "00111239" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087434" "00926" "00111240" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087435" "00926" "00111241" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087436" "00926" "00111243" "00006" "Unknown" "" "FM, SMM" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087437" "00926" "00111244" "00006" "Unknown" "" "FM, SMM" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087438" "00926" "00111246" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087439" "00926" "00111247" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087440" "00926" "00111248" "00006" "Familial" "" "4 melanomas, father with single cutaneous melanoma" "31y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087441" "00926" "00111249" "00006" "Unknown" "" "M34; cancer, melanoma, familial (FM)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087442" "00926" "00111250" "00006" "Unknown" "" "MPM" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087443" "00926" "00111251" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087444" "00926" "00111252" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087445" "00926" "00111254" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087446" "00926" "00111255" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087447" "00926" "00111257" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087448" "01432" "00111258" "00006" "Unknown" "" "PC, CMM" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087449" "00926" "00111260" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087450" "00926" "00111262" "00006" "Unknown" "" "MPM" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087451" "00926" "00111263" "00006" "Unknown" "" "MPM" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087452" "00926" "00111266" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087453" "00926" "00111268" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087454" "02597" "00111269" "00006" "Unknown" "" "FPC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087455" "00926" "00111270" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087456" "00926" "00111276" "00006" "Unknown" "" "melanoma, familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087523" "00926" "00111286" "00006" "Familial" "" "first melanoma 32y, 2 melanomas, maternal grandmother with single cutaneous melanoma" "32y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087524" "00926" "00111685" "00006" "Familial" "" "6 melanomas, paternal grandmother\r\nwith single cutaneous melanoma" "21y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087525" "00926" "00111686" "00006" "Familial, autosomal dominant" "" "2 melanomas; father and brother with single cutaneous melanoma" "48y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087526" "00926" "00111687" "00006" "Familial, autosomal dominant" "" "3 melanomas; multiple family members with single cutaneous melanoma" "36y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087527" "00926" "00111688" "00006" "Familial, autosomal dominant" "" "7 melanomas; mother with multiple primary melanoma" "13y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087528" "00926" "00111662" "00006" "Familial, autosomal dominant" "" "age onset F38y, M33y, M29y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087529" "00926" "00111544" "00006" "Familial, autosomal dominant" "" "F?y, F33y (multiple primary melanomas), F49y (multiple primary melanomas), M40y, F35y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087530" "00926" "00111648" "00006" "Familial" "" "M34y (multiple primary melanomas), M37y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087531" "00926" "00111689" "00006" "Familial" "" "M34y, M36y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092434" "00926" "00111570" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092435" "00926" "00117189" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092436" "00926" "00117190" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092437" "00926" "00117191" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092438" "00926" "00117192" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092439" "00926" "00117193" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092440" "00926" "00117194" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000127750" "02597" "00155215" "00657" "Familial" "" "46y-ampullary carcinoma; 57y-pancreatic ductal adenocarcinoma; the PDAC is considered a second primary based on NGS analysis on tumor tissue of both tumours:\r\n- tumor at age 46: KRAS c.35G>A, p. (Gly12Asp)\r\n- tumor at age 57: KRAS c.35G>A, p. (Gly12Asp), TP53 c.722C>T, p.(Ser241Phe), STK11 c.598-1G>A" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000127751" "02597" "00155216" "00657" "Familial" "" "67y-two synchronous primary pancreatic ductal adenocarcinomas, tumor in pancreatic head 13 mm, tumor in pancreatic corpus 19 mm; molecular analysis of both tumours showed no clonal relatedness and therefore these tumours are considered both primary tumours" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000185655" "00681" "00245792" "03356" "Unknown" "" "Pancreatic ductal adenocarcinoma (PDAC) at age 64, and one first degree relative with PDAC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000185656" "00681" "00245793" "03356" "Unknown" "" "Pancreatic ductal adenocarcinoma (PDAC) at age 50, melanoma at age 42, and two second degree relatives with PDAC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000185657" "00681" "00245794" "03356" "Unknown" "" "Pancreatic ductal adenocarcinoma (PDAC) at age 54 and one first degree relative with PDAC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000185658" "00681" "00245795" "03356" "Unknown" "" "Pancreatic ductal adenocarcinoma at age 45, melanoma at age 42" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000185659" "00681" "00245796" "03356" "Unknown" "" "Pancreatic ductal adenocarcinoma at age 50, and two first-degree relatives with PDAC. No history of melanoma." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000185661" "05093" "00245798" "03356" "Unknown" "" "Intraductal Papillary Mucinous Neoplasia at age 37, one first-degree realtive with PDAC, one second-degree realtive with PDAC.No history of melanoma." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186339" "00318" "00246488" "00643" "Unknown" "" "family history; triple-negative breast cancer; 36y first breast cancer" "" "" "" "" "" "" "" "" "" "" "" "" "" "breast cancer" "" "0000271355" "00681" "00376144" "00585" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "pancreatic ductal adenocarcinoma" "" "0000332832" "05489" "00443498" "04599" "Unknown" "24" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 457 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000047420" "00047320" "1" "00727" "00727" "2015-08-20 17:21:51" "" "" "SEQ" "DNA" "" "" "0000090653" "00090508" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090654" "00090509" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090655" "00090510" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090656" "00090511" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090657" "00090512" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090658" "00090513" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090659" "00090514" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090660" "00090515" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090661" "00090516" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090662" "00090517" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090663" "00090518" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090664" "00090519" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090665" "00090520" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090666" "00090521" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000091027" "00090882" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000111665" "00111200" "1" "00640" "00640" "2008-09-26 15:10:32" "" "" "SEQ" "DNA" "" "" "0000111666" "00111284" "1" "01540" "01043" "2008-11-27 12:36:17" "" "" "MLPA" "DNA" "" "" "0000111667" "00111295" "1" "00006" "01043" "2008-05-23 12:34:40" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111668" "00111306" "1" "00006" "01043" "2008-05-23 12:37:20" "" "" "SEQ" "DNA" "" "" "0000111669" "00111317" "1" "00006" "01043" "2008-06-03 14:29:38" "" "" "SEQ" "DNA" "" "" "0000111670" "00111328" "1" "01540" "01043" "2008-10-24 08:38:35" "" "" "SEQ" "DNA" "" "" "0000111671" "00111339" "1" "01540" "01043" "2008-10-24 09:15:33" "" "" "SEQ" "DNA" "" "" "0000111672" "00111350" "1" "00006" "01043" "2008-03-03 16:33:48" "" "" "SEQ" "DNA" "" "" "0000111673" "00111361" "1" "00006" "01043" "2008-03-03 16:33:48" "" "" "PCR;SEQ" "DNA" "" "" "0000111674" "00111201" "1" "00006" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111675" "00111212" "1" "00006" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111676" "00111223" "1" "01540" "01043" "2008-10-28 13:45:06" "01043" "2008-10-28 13:51:15" "SEQ" "DNA" "" "" "0000111677" "00111234" "1" "00006" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "PCR;SEQ" "DNA" "" "" "0000111678" "00111245" "1" "00006" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111679" "00111256" "1" "00006" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "PCR;SEQ" "DNA" "" "" "0000111680" "00111267" "1" "00006" "01043" "2008-03-03 16:33:48" "" "" "PCR;SSCA;SEQ" "DNA" "" "" "0000111681" "00111278" "1" "00006" "01043" "2008-03-03 16:33:48" "" "" "SEQ" "DNA" "" "" "0000111682" "00111282" "1" "00006" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "PCR;SSCA;SEQ" "DNA" "" "" "0000111683" "00111283" "1" "00006" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111684" "00111285" "1" "00006" "01043" "2008-03-03 16:33:48" "" "" "PCR;SEQ" "DNA" "" "" "0000111685" "00111286" "1" "00006" "01043" "2008-03-03 16:33:48" "" "" "SEQ" "DNA" "" "" "0000111686" "00111287" "1" "00006" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "PCR;SSCA;SEQ" "DNA" "" "" "0000111687" "00111288" "1" "00006" "01043" "2008-03-03 16:33:48" "" "" "SEQ" "DNA" "" "" "0000111688" "00111289" "1" "00006" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111689" "00111290" "1" "00006" "01043" "2008-03-03 16:33:48" "" "" "SEQ" "DNA" "" "" "0000111690" "00111291" "1" "00006" "01043" "2008-03-03 16:33:48" "" "" "PCR;SSCA;SEQ" "DNA" "" "" "0000111691" "00111292" "1" "00006" "01043" "2008-03-03 16:33:48" "" "" "PCR;SEQ" "DNA" "" "" "0000111692" "00111293" "1" "00006" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111693" "00111294" "1" "00006" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "DHPLC" "DNA" "" "" "0000111694" "00111296" "1" "00006" "01043" "2008-03-03 16:33:48" "" "" "SEQ" "DNA" "" "" "0000111695" "00111297" "1" "00006" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "PCR;SEQ" "DNA" "" "" "0000111696" "00111298" "1" "00006" "01043" "2008-03-03 16:33:48" "" "" "SEQ" "DNA" "" "" "0000111697" "00111299" "1" "00006" "01043" "2008-03-03 16:33:48" "" "" "SEQ" "DNA" "" "" "0000111698" "00111300" "1" "00006" "01043" "2008-03-03 16:33:48" "" "" "PCR;SSCA;SEQ" "DNA" "" "" "0000111699" "00111301" "1" "00006" "01043" "2008-03-03 16:33:48" "" "" "SEQ" "DNA" "" "" "0000111700" "00111302" "1" "00006" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111701" "00111303" "1" "00006" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "PCR;SEQ" "DNA" "" "" "0000111702" "00111304" "1" "00006" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111703" "00111305" "1" "00006" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111704" "00111307" "1" "00006" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111705" "00111308" "1" "00006" "01043" "2008-03-03 16:33:48" "" "" "SEQ" "DNA" "" "" "0000111706" "00111309" "1" "00006" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111707" "00111310" "1" "00006" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111708" "00111311" "1" "00006" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "PCR;SSCA;SEQ" "DNA" "" "" "0000111709" "00111312" "1" "00006" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111710" "00111313" "1" "00006" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "PCR;SEQ" "DNA" "" "" "0000111711" "00111314" "1" "00006" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "PCR;SSCA;SEQ" "DNA" "" "" "0000111712" "00111315" "1" "00006" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111713" "00111316" "1" "00006" "01043" "2008-03-03 16:33:48" "" "" "PCR;SEQ" "DNA" "" "" "0000111714" "00111318" "1" "00006" "01043" "2008-03-03 16:33:48" "" "" "PCR;SEQ" "DNA" "" "" "0000111715" "00111319" "1" "00006" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "PCR;SEQ" "DNA" "" "" "0000111716" "00111320" "1" "00006" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "PCR;SEQ" "DNA" "" "" "0000111717" "00111321" "1" "00006" "01043" "2008-05-15 14:20:21" "" "" "SEQ" "DNA" "" "" "0000111718" "00111322" "1" "00006" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111719" "00111323" "1" "00006" "01043" "2008-05-15 14:20:21" "" "" "DHPLC;SEQ" "DNA" "" "" "0000111720" "00111324" "1" "00006" "01043" "2008-05-16 15:44:02" "" "" "SEQ" "DNA" "" "" "0000111721" "00111325" "1" "00006" "01043" "2008-05-16 15:44:02" "" "" "SEQ" "DNA" "" "" "0000111722" "00111326" "1" "01540" "01540" "2008-05-22 15:21:24" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111723" "00111327" "1" "02158" "02158" "2012-08-10 14:59:41" "" "" "SEQ" "DNA" "" "" "0000111724" "00111329" "1" "00006" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111725" "00111330" "1" "00006" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "PCR;SEQ" "DNA" "" "" "0000111726" "00111331" "1" "00006" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111727" "00111332" "1" "00006" "01043" "2008-05-15 14:20:21" "" "" "SEQ" "DNA" "" "" "0000111728" "00111333" "1" "00006" "01043" "2008-05-15 14:20:21" "" "" "PCR;SSCA;SEQ" "DNA" "" "" "0000111729" "00111334" "1" "00006" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "PCR;SEQ" "DNA" "" "" "0000111730" "00111335" "1" "00006" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "PCR;SSCA;SEQ" "DNA" "" "" "0000111731" "00111336" "1" "00006" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111732" "00111337" "1" "00006" "01043" "2008-05-15 14:20:21" "" "" "SEQ" "DNA" "" "" "0000111733" "00111338" "1" "00006" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "PCR;SSCA;SEQ" "DNA" "" "" "0000111734" "00111340" "1" "00006" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "PCR;SSCA;SEQ" "DNA" "" "" "0000111735" "00111341" "1" "00006" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111736" "00111342" "1" "00006" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "PCR;SSCA;SEQ" "DNA" "" "" "0000111737" "00111343" "1" "00006" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111738" "00111344" "1" "00006" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111739" "00111345" "1" "00006" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "PCR;SSCA;SEQ" "DNA" "" "" "0000111740" "00111346" "1" "00006" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111741" "00111347" "1" "00006" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "PCR;SEQ" "DNA" "" "" "0000111742" "00111348" "1" "00006" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111743" "00111349" "1" "00006" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111744" "00111351" "1" "00006" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111745" "00111352" "1" "00006" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "PCR;SEQ" "DNA" "" "" "0000111746" "00111353" "1" "00006" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111747" "00111354" "1" "00006" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "PCR;SEQ" "DNA" "" "" "0000111748" "00111355" "1" "01540" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111749" "00111356" "1" "01540" "01043" "2008-12-01 11:09:29" "" "" "SEQ" "DNA" "" "" "0000111750" "00111357" "1" "00006" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "PCR;SSCA;SEQ" "DNA" "" "" "0000111751" "00111358" "1" "00006" "01043" "2008-05-15 14:20:21" "" "" "PCR;SSCA;SEQ" "DNA" "" "" "0000111752" "00111359" "1" "00006" "01043" "2008-05-20 11:12:19" "" "" "SEQ" "DNA" "" "" "0000111753" "00111360" "1" "00006" "01043" "2008-05-20 11:24:36" "01043" "2008-05-20 11:34:57" "SSCA" "DNA" "" "" "0000111754" "00111362" "1" "00006" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111755" "00111363" "1" "00006" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "PCR;SSCA;SEQ" "DNA" "" "" "0000111756" "00111364" "1" "00006" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "PCR;SEQ" "DNA" "" "" "0000111757" "00111365" "1" "00006" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "PCR;SSCA;SEQ" "DNA" "" "" "0000111758" "00111366" "1" "00006" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111759" "00111367" "1" "00657" "00657" "2014-06-09 14:40:53" "00657" "2014-06-10 22:22:30" "SEQ" "DNA" "" "" "0000111760" "00111368" "1" "00006" "01043" "2008-05-15 14:20:21" "" "" "PCR;SSCA;SEQ" "DNA" "" "" "0000111761" "00111369" "1" "00006" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111762" "00111370" "1" "00006" "01043" "2008-05-15 14:20:21" "" "" "SEQ" "DNA" "" "" "0000111763" "00111371" "1" "00006" "01043" "2008-05-15 14:20:21" "" "" "SEQ" "DNA" "" "" "0000111764" "00111202" "1" "00006" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111765" "00111203" "1" "00006" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111766" "00111204" "1" "00006" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "PCR;SSCA;SEQ" "DNA" "" "" "0000111767" "00111205" "1" "00006" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "PCR;SEQ" "DNA" "" "" "0000111768" "00111206" "1" "00006" "01043" "2008-05-15 14:20:21" "" "" "PCR;SEQ" "DNA" "" "" "0000111769" "00111207" "1" "00006" "01043" "2008-05-15 14:20:21" "" "" "PCR;SSCA;SEQ" "DNA" "" "" "0000111770" "00111208" "1" "00006" "01043" "2008-05-16 15:44:02" "" "" "PCR;SSCA;SEQ" "DNA" "" "" "0000111771" "00111209" "1" "00006" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111772" "00111210" "1" "00006" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "PCR;SEQ" "DNA" "" "" "0000111773" "00111211" "1" "00006" "01043" "2008-05-16 15:44:02" "" "" "SEQ" "DNA" "" "" "0000111774" "00111213" "1" "02158" "02158" "2012-08-10 15:07:46" "" "" "SEQ" "DNA" "" "" "0000111775" "00111214" "1" "02158" "02158" "2012-08-10 15:10:56" "" "" "SEQ" "DNA" "" "" "0000111776" "00111215" "1" "00006" "01043" "2008-05-16 15:44:02" "" "" "SEQ" "DNA" "" "" "0000111777" "00111216" "1" "00006" "01043" "2008-05-16 15:44:02" "" "" "SEQ" "DNA" "" "" "0000111778" "00111217" "1" "00006" "01043" "2008-05-16 15:44:02" "" "" "PCR;SEQ" "DNA" "" "" "0000111779" "00111218" "1" "00006" "01043" "2008-05-16 15:44:02" "" "" "PCR;SEQ" "DNA" "" "" "0000111780" "00111219" "1" "00006" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "PCR;SSCA;SEQ" "DNA" "" "" "0000111781" "00111220" "1" "00006" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111782" "00111221" "1" "00006" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "PCR;SSCA;SEQ" "DNA" "" "" "0000111783" "00111222" "1" "00006" "01043" "2008-05-16 15:44:02" "" "" "PCR;SEQ" "DNA" "" "" "0000111784" "00111224" "1" "00006" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111785" "00111225" "1" "00006" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111786" "00111226" "1" "00006" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111787" "00111227" "1" "00006" "01043" "2008-05-16 15:44:02" "" "" "PCR;SEQ" "DNA" "" "" "0000111788" "00111228" "1" "00006" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "PCR;SSCA;SEQ" "DNA" "" "" "0000111789" "00111229" "1" "00006" "01043" "2008-05-16 15:44:02" "" "" "SEQ" "DNA" "" "" "0000111790" "00111230" "1" "00006" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "DHPLC" "DNA" "" "" "0000111791" "00111231" "1" "00006" "01043" "2008-05-20 12:34:17" "" "" "SEQ" "DNA" "" "" "0000111792" "00111232" "1" "00006" "01043" "2008-05-20 12:35:51" "" "" "SEQ" "DNA" "" "" "0000111793" "00111233" "1" "00006" "01043" "2008-05-20 12:37:12" "" "" "SEQ" "DNA" "" "" "0000111794" "00111235" "1" "00006" "01043" "2008-05-20 12:38:33" "" "" "SEQ" "DNA" "" "" "0000111795" "00111236" "1" "00006" "01043" "2008-05-20 12:40:12" "" "" "SEQ" "DNA" "" "" "0000111796" "00111237" "1" "00006" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "PCR;SEQ" "DNA" "" "" "0000111797" "00111238" "1" "00006" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "PCR;SEQ" "DNA" "" "" "0000111798" "00111239" "1" "00006" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111799" "00111240" "1" "00006" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111800" "00111241" "1" "00006" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111801" "00111242" "1" "00006" "01043" "2008-05-16 15:44:02" "" "" "SEQ" "DNA" "" "" "0000111802" "00111243" "1" "00006" "01043" "2008-05-16 15:44:02" "" "" "PCR;SEQ" "DNA" "" "" "0000111803" "00111244" "1" "00006" "01043" "2008-05-16 15:44:02" "" "" "PCR;SSCA;SEQ" "DNA" "" "" "0000111804" "00111246" "1" "00006" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "PCR;SEQ" "DNA" "" "" "0000111805" "00111247" "1" "00006" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "PCR;SSCA;SEQ" "DNA" "" "" "0000111806" "00111248" "1" "00006" "01043" "2008-05-16 15:44:02" "" "" "SEQ" "DNA" "" "" "0000111807" "00111249" "1" "00006" "01043" "2008-05-19 15:58:46" "01043" "2008-09-30 15:19:40" "PCR;SEQ" "DNA" "" "" "0000111808" "00111250" "1" "00006" "01043" "2008-05-19 15:58:46" "" "" "SEQ" "DNA" "" "" "0000111809" "00111251" "1" "00006" "01043" "2008-05-19 15:58:46" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111810" "00111252" "1" "00006" "01043" "2008-05-19 15:58:46" "00006" "2011-01-24 22:15:24" "PCR;SSCA;SEQ" "DNA" "" "" "0000111811" "00111253" "1" "00006" "01043" "2008-05-19 15:58:46" "" "" "SEQ" "DNA" "" "" "0000111812" "00111254" "1" "00006" "01043" "2008-05-19 15:58:46" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111813" "00111255" "1" "00006" "01043" "2008-05-19 15:58:46" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111814" "00111257" "1" "00006" "01043" "2008-05-19 15:58:46" "00006" "2011-01-24 22:15:24" "PCR;SSCA;SEQ" "DNA" "" "" "0000111815" "00111258" "1" "00006" "01043" "2008-05-19 15:58:46" "" "" "PCR;SEQ" "DNA" "" "" "0000111816" "00111259" "1" "00006" "01043" "2008-05-19 15:58:46" "" "" "PCR;SSCA;SEQ" "DNA" "" "" "0000111817" "00111260" "1" "00006" "01043" "2008-05-19 15:58:46" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111818" "00111261" "1" "00006" "01043" "2008-05-19 15:58:46" "" "" "SEQ" "DNA" "" "" "0000111819" "00111262" "1" "00006" "01043" "2008-05-19 15:58:46" "" "" "SEQ" "DNA" "" "" "0000111820" "00111263" "1" "00006" "01043" "2008-05-19 15:58:46" "" "" "SEQ" "DNA" "" "" "0000111821" "00111264" "1" "00006" "01043" "2008-05-19 15:58:46" "" "" "SEQ" "DNA" "" "" "0000111822" "00111265" "1" "00006" "01043" "2008-05-19 15:58:46" "" "" "SEQ" "DNA" "" "" "0000111823" "00111266" "1" "00006" "01043" "2008-05-19 15:58:46" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111824" "00111268" "1" "00006" "01043" "2008-05-19 15:58:46" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111825" "00111269" "1" "00006" "01043" "2008-05-19 15:58:46" "" "" "SEQ" "DNA" "" "" "0000111826" "00111270" "1" "00006" "01043" "2008-05-19 15:58:46" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111827" "00111271" "1" "00006" "01043" "2008-05-19 15:58:46" "" "" "SEQ" "DNA" "" "" "0000111828" "00111272" "1" "00006" "01043" "2008-05-19 15:58:46" "" "" "SEQ" "DNA" "" "" "0000111829" "00111273" "1" "00006" "01043" "2008-05-19 15:58:46" "" "" "SEQ" "DNA" "" "" "0000111830" "00111274" "1" "00006" "01043" "2008-05-19 15:58:46" "" "" "SEQ" "DNA" "" "" "0000111831" "00111275" "1" "00006" "01043" "2008-05-19 15:58:46" "" "" "SEQ" "DNA" "" "" "0000111832" "00111276" "1" "00006" "01043" "2008-05-19 15:58:46" "00006" "2011-01-24 22:15:24" "PCR;SEQ" "DNA" "" "" "0000111833" "00111277" "1" "00006" "01043" "2008-05-19 15:58:46" "" "" "SEQ" "DNA" "" "" "0000111834" "00111279" "1" "00006" "01043" "2008-05-19 15:58:46" "" "" "SEQ" "DNA" "" "" "0000111835" "00111280" "1" "00006" "01043" "2008-05-19 15:58:46" "" "" "SEQ" "DNA" "" "" "0000111836" "00111281" "1" "00006" "01043" "2008-05-19 15:58:46" "" "" "SEQ" "DNA" "" "" "0000111899" "00111435" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111900" "00111436" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111901" "00111437" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111902" "00111438" "1" "01043" "01043" "2008-05-15 14:20:21" "" "" "SEQ" "DNA" "" "" "0000111903" "00111439" "1" "01043" "01043" "2008-05-16 15:44:02" "" "" "SEQ" "DNA" "" "" "0000111904" "00111440" "1" "01043" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111905" "00111441" "1" "01043" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111906" "00111442" "1" "01043" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111907" "00111443" "1" "01043" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111908" "00111444" "1" "01043" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111909" "00111445" "1" "01043" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111910" "00111446" "1" "01043" "01043" "2008-05-16 15:44:02" "" "" "SEQ" "DNA" "" "" "0000111911" "00111447" "1" "01043" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111912" "00111448" "1" "01043" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111913" "00111449" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111914" "00111450" "1" "01043" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111915" "00111451" "1" "01043" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111916" "00111452" "1" "01043" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111917" "00111453" "1" "01043" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111918" "00111454" "1" "01043" "01043" "2008-05-16 15:44:02" "" "" "SEQ" "DNA" "" "" "0000111919" "00111455" "1" "01043" "01043" "2008-05-16 15:44:02" "" "" "SEQ" "DNA" "" "" "0000111920" "00111456" "1" "01043" "01043" "2008-05-19 15:58:46" "01043" "2008-09-30 15:19:40" "SEQ" "DNA" "" "" "0000111921" "00111457" "1" "01043" "01043" "2008-05-19 15:58:46" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111922" "00111458" "1" "01043" "01043" "2008-05-19 15:58:46" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111923" "00111459" "1" "01043" "01043" "2008-05-19 15:58:46" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111924" "00111460" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111925" "00111461" "1" "01043" "01043" "2008-05-19 15:58:46" "" "" "SEQ" "DNA" "" "" "0000111926" "00111462" "1" "01043" "01043" "2008-05-19 15:58:46" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111927" "00111463" "1" "01043" "01043" "2008-03-03 16:33:48" "" "" "SEQ" "DNA" "" "" "0000111928" "00111464" "1" "01043" "01043" "2008-05-19 15:58:46" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111929" "00111465" "1" "01043" "01043" "2008-05-19 15:58:46" "" "" "SEQ" "DNA" "" "" "0000111930" "00111466" "1" "01043" "01043" "2008-05-19 15:58:46" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111931" "00111467" "1" "01043" "01043" "2008-05-19 15:58:46" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111932" "00111468" "1" "01043" "01043" "2008-03-03 16:33:48" "" "" "SEQ" "DNA" "" "" "0000111933" "00111469" "1" "01043" "01043" "2008-05-19 15:58:46" "" "" "SEQ" "DNA" "" "" "0000111934" "00111470" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111935" "00111471" "1" "01043" "01043" "2008-03-03 16:33:48" "" "" "SEQ" "DNA" "" "" "0000111936" "00111472" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111937" "00111473" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111938" "00111474" "1" "01043" "01043" "2008-03-03 16:33:48" "" "" "SEQ" "DNA" "" "" "0000111939" "00111475" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111940" "00111476" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111941" "00111477" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111942" "00111478" "1" "01043" "01043" "2008-03-03 16:33:48" "" "" "SEQ" "DNA" "" "" "0000111943" "00111479" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111944" "00111480" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111945" "00111481" "1" "01043" "01043" "2008-03-03 16:33:48" "" "" "SEQ" "DNA" "" "" "0000111946" "00111482" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111947" "00111483" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111948" "00111484" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111949" "00111485" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111950" "00111486" "1" "01043" "01043" "2008-03-03 16:33:48" "" "" "SEQ" "DNA" "" "" "0000111951" "00111487" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111952" "00111488" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111953" "00111489" "1" "01043" "01043" "2008-05-15 14:20:21" "" "" "SEQ" "DNA" "" "" "0000111954" "00111490" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111955" "00111491" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111956" "00111492" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111957" "00111493" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111958" "00111494" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111959" "00111495" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111960" "00111496" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111961" "00111497" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111962" "00111498" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111963" "00111499" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111964" "00111500" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111965" "00111501" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111966" "00111502" "1" "01043" "01043" "2008-03-03 16:33:48" "" "" "SEQ" "DNA" "" "" "0000111967" "00111503" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111968" "00111504" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111969" "00111505" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111970" "00111506" "1" "01043" "01043" "2008-05-15 14:20:21" "" "" "SEQ" "DNA" "" "" "0000111971" "00111507" "1" "01043" "01043" "2008-03-03 16:33:48" "" "" "SEQ" "DNA" "" "" "0000111972" "00111508" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111973" "00111509" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111974" "00111510" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111975" "00111511" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111976" "00111512" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111977" "00111513" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111978" "00111514" "1" "01043" "01043" "2008-05-19 15:58:46" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111979" "00111515" "1" "01043" "01043" "2008-05-19 15:58:46" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111980" "00111516" "1" "01043" "01043" "2008-03-03 16:33:48" "" "" "SEQ" "DNA" "" "" "0000111981" "00111517" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111982" "00111518" "1" "01043" "01043" "2008-03-03 16:33:48" "" "" "SEQ" "DNA" "" "" "0000111983" "00111519" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111984" "00111520" "1" "01043" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111985" "00111521" "1" "01043" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111986" "00111522" "1" "01043" "01043" "2008-03-03 16:33:48" "" "" "SEQ" "DNA" "" "" "0000111987" "00111523" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111988" "00111524" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111989" "00111525" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111990" "00111526" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111991" "00111527" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111992" "00111528" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111993" "00111529" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111994" "00111530" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111995" "00111531" "1" "01043" "01043" "2008-05-15 14:20:21" "" "" "SEQ" "DNA" "" "" "0000111996" "00111532" "1" "01043" "01043" "2008-05-15 14:20:21" "" "" "SEQ" "DNA" "" "" "0000111997" "00111533" "1" "01043" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111998" "00111534" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000111999" "00111535" "1" "01043" "01043" "2008-05-19 15:58:46" "01043" "2008-09-30 15:19:40" "SEQ" "DNA" "" "" "0000112000" "00111536" "1" "01043" "01043" "2008-05-19 15:58:46" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112001" "00111537" "1" "01043" "01043" "2008-03-03 16:33:48" "" "" "SEQ" "DNA" "" "" "0000112002" "00111538" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112003" "00111539" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112004" "00111540" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112005" "00111541" "1" "01043" "01043" "2008-05-19 15:58:46" "" "" "SEQ" "DNA" "" "" "0000112006" "00111542" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112007" "00111543" "1" "01043" "01043" "2008-05-16 15:44:02" "" "" "SEQ" "DNA" "" "" "0000112008" "00111544" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112009" "00111545" "1" "01043" "01043" "2008-05-19 15:58:46" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112010" "00111546" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112011" "00111547" "1" "01043" "01043" "2008-03-03 16:33:48" "" "" "SEQ" "DNA" "" "" "0000112012" "00111548" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112013" "00111549" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112014" "00111550" "1" "01043" "01043" "2008-05-19 15:58:46" "" "" "SEQ" "DNA" "" "" "0000112015" "00111551" "1" "01043" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112016" "00111552" "1" "01043" "01043" "2008-03-03 16:33:48" "" "" "SEQ" "DNA" "" "" "0000112017" "00111553" "1" "01043" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112018" "00111554" "1" "01043" "01043" "2008-05-19 15:58:46" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112019" "00111555" "1" "01043" "01043" "2008-05-16 15:44:02" "" "" "SEQ" "DNA" "" "" "0000112020" "00111556" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112021" "00111557" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112022" "00111558" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112023" "00111559" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112024" "00111560" "1" "01043" "01043" "2008-03-03 16:33:48" "" "" "SEQ" "DNA" "" "" "0000112025" "00111561" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112026" "00111562" "1" "01043" "01043" "2008-03-03 16:33:48" "" "" "SEQ" "DNA" "" "" "0000112027" "00111563" "1" "01043" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112028" "00111564" "1" "01043" "01043" "2008-05-19 15:58:46" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112029" "00111565" "1" "01043" "01043" "2008-05-16 15:44:02" "" "" "SEQ" "DNA" "" "" "0000112030" "00111566" "1" "01043" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112031" "00111567" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112032" "00111568" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112033" "00111569" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112034" "00111570" "1" "01043" "01043" "2008-03-03 16:33:48" "" "" "SEQ" "DNA" "" "" "0000112035" "00111571" "1" "01043" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112036" "00111572" "1" "01043" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112037" "00111573" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112038" "00111574" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112039" "00111575" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112040" "00111576" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112041" "00111577" "1" "01043" "01043" "2008-03-03 16:33:48" "" "" "SEQ" "DNA" "" "" "0000112042" "00111578" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112043" "00111579" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112044" "00111580" "1" "01043" "01043" "2008-05-15 14:20:21" "" "" "SEQ" "DNA" "" "" "0000112045" "00111581" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112046" "00111582" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112047" "00111583" "1" "01043" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112048" "00111584" "1" "01043" "01043" "2008-05-19 15:58:46" "" "" "SEQ" "DNA" "" "" "0000112049" "00111585" "1" "01043" "01043" "2008-05-19 15:58:46" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112050" "00111586" "1" "01043" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112051" "00111587" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112052" "00111588" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112053" "00111589" "1" "01043" "01043" "2008-05-19 15:58:46" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112054" "00111590" "1" "01043" "01043" "2008-03-03 16:33:48" "" "" "SEQ" "DNA" "" "" "0000112055" "00111591" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112056" "00111592" "1" "01043" "01043" "2008-03-03 16:33:48" "" "" "SEQ" "DNA" "" "" "0000112057" "00111593" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112058" "00111594" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112059" "00111595" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112060" "00111596" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112061" "00111597" "1" "01043" "01043" "2008-05-19 15:58:46" "01043" "2008-09-30 15:19:40" "SEQ" "DNA" "" "" "0000112062" "00111598" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112063" "00111599" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112064" "00111600" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112065" "00111601" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112066" "00111602" "1" "01043" "01043" "2008-05-19 15:58:46" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112067" "00111603" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112068" "00111604" "1" "01043" "01043" "2008-03-03 16:33:48" "" "" "SEQ" "DNA" "" "" "0000112069" "00111605" "1" "01043" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112070" "00111606" "1" "01043" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112071" "00111607" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112072" "00111608" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112073" "00111609" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112074" "00111610" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112075" "00111611" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112076" "00111612" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112077" "00111613" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112078" "00111614" "1" "01043" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112079" "00111615" "1" "01043" "01043" "2008-03-03 16:33:48" "" "" "SEQ" "DNA" "" "" "0000112080" "00111616" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112081" "00111617" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112082" "00111618" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112083" "00111619" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112084" "00111620" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112085" "00111621" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112086" "00111622" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112087" "00111623" "1" "01043" "01043" "2008-03-03 16:33:48" "" "" "SEQ" "DNA" "" "" "0000112088" "00111624" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112089" "00111625" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112090" "00111626" "1" "01043" "01043" "2008-05-19 15:58:46" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112091" "00111627" "1" "01043" "01043" "2008-03-03 16:33:48" "" "" "SEQ" "DNA" "" "" "0000112092" "00111628" "1" "01043" "01043" "2008-05-19 15:58:46" "01043" "2008-09-30 15:19:40" "SEQ" "DNA" "" "" "0000112093" "00111629" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112094" "00111630" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112095" "00111631" "1" "01043" "01043" "2008-05-19 15:58:46" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112096" "00111632" "1" "01043" "01043" "2008-05-15 14:20:21" "" "" "SEQ" "DNA" "" "" "0000112097" "00111633" "1" "01043" "01043" "2008-05-16 15:44:02" "" "" "SEQ" "DNA" "" "" "0000112098" "00111636" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112099" "00111637" "1" "01043" "01043" "2008-05-19 15:58:46" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112100" "00111638" "1" "01043" "01043" "2008-05-16 15:44:02" "" "" "SEQ" "DNA" "" "" "0000112101" "00111639" "1" "01043" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112102" "00111640" "1" "01043" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112103" "00111641" "1" "01043" "01043" "2008-03-03 16:33:48" "" "" "SEQ" "DNA" "" "" "0000112104" "00111642" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112105" "00111643" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112106" "00111644" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112107" "00111645" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112108" "00111646" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112109" "00111647" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112110" "00111648" "1" "01043" "01043" "2008-03-03 16:33:48" "" "" "SEQ" "DNA" "" "" "0000112111" "00111649" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112112" "00111650" "1" "01043" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112113" "00111651" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112114" "00111652" "1" "01043" "01043" "2008-05-15 14:20:21" "" "" "SEQ" "DNA" "" "" "0000112115" "00111653" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112116" "00111654" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112117" "00111656" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112118" "00111657" "1" "01043" "01043" "2008-03-03 16:33:48" "" "" "SEQ" "DNA" "" "" "0000112119" "00111658" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112120" "00111659" "1" "01043" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112121" "00111660" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112122" "00111661" "1" "01043" "01043" "2008-05-15 14:20:21" "" "" "SEQ" "DNA" "" "" "0000112123" "00111662" "1" "01043" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112124" "00111663" "1" "01043" "01043" "2008-03-03 16:33:48" "" "" "SEQ" "DNA" "" "" "0000112125" "00111664" "1" "01043" "01043" "2008-05-19 15:58:46" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112126" "00111665" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112127" "00111666" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112128" "00111667" "1" "01043" "01043" "2008-05-16 15:44:02" "" "" "SEQ" "DNA" "" "" "0000112130" "00111668" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112131" "00111669" "1" "01043" "01043" "2008-05-16 15:44:02" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112132" "00111670" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112133" "00111671" "1" "01043" "01043" "2008-05-15 14:20:21" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112134" "00111672" "1" "01043" "01043" "2008-05-15 14:20:21" "" "" "SEQ" "DNA" "" "" "0000112135" "00111673" "1" "01043" "01043" "2008-05-19 15:58:46" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112136" "00111674" "1" "01043" "01043" "2008-05-16 15:44:02" "" "" "SEQ" "DNA" "" "" "0000112137" "00111675" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112138" "00111677" "1" "01043" "01043" "2008-03-03 16:33:48" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112139" "00111678" "1" "01043" "01043" "2008-05-19 15:58:46" "00006" "2011-01-24 22:15:24" "SEQ" "DNA" "" "" "0000112144" "00111685" "1" "00006" "00006" "2017-08-03 19:49:02" "" "" "SEQ" "DNA" "" "" "0000112145" "00111686" "1" "00006" "00006" "2017-08-03 19:54:22" "" "" "SEQ" "DNA" "" "" "0000112146" "00111687" "1" "00006" "00006" "2017-08-03 20:02:41" "" "" "SEQ" "DNA" "" "" "0000112147" "00111688" "1" "00006" "00006" "2017-08-03 20:07:10" "" "" "SEQ" "DNA" "" "" "0000112148" "00111689" "1" "00006" "00006" "2017-08-03 20:42:38" "" "" "SEQ" "DNA" "" "" "0000117649" "00117189" "1" "00006" "00006" "2017-08-11 19:40:31" "" "" "SEQ" "DNA" "" "" "0000117650" "00117190" "1" "00006" "00006" "2017-08-11 19:43:39" "" "" "SEQ" "DNA" "" "" "0000117651" "00117191" "1" "00006" "00006" "2017-08-11 19:46:59" "" "" "SEQ" "DNA" "" "" "0000117652" "00117192" "1" "00006" "00006" "2017-08-11 19:49:26" "" "" "SEQ" "DNA" "" "" "0000117653" "00117193" "1" "00006" "00006" "2017-08-11 19:52:32" "" "" "SEQ" "DNA" "" "" "0000117654" "00117194" "1" "00006" "00006" "2017-08-11 19:55:12" "" "" "SEQ" "DNA" "" "" "0000156079" "00155215" "1" "00657" "00657" "2018-03-15 11:22:29" "" "" "PCR" "DNA" "blood" "" "0000156080" "00155216" "1" "00657" "00657" "2018-03-15 11:38:38" "" "" "PCR" "DNA" "blood" "" "0000246904" "00245792" "1" "03356" "03356" "2019-07-08 17:46:22" "" "" "SEQ" "DNA" "" "" "0000246905" "00245793" "1" "03356" "03356" "2019-07-08 17:50:49" "" "" "SEQ" "DNA" "" "" "0000246906" "00245794" "1" "03356" "03356" "2019-07-08 17:54:25" "" "" "SEQ" "DNA" "" "" "0000246907" "00245795" "1" "03356" "03356" "2019-07-08 17:58:44" "" "" "SEQ" "DNA" "" "" "0000246908" "00245796" "1" "03356" "03356" "2019-07-08 18:02:13" "" "" "SEQ" "DNA" "" "" "0000246910" "00245798" "1" "03356" "03356" "2019-07-08 18:10:43" "" "" "SEQ" "DNA" "" "" "0000247600" "00246488" "1" "00643" "00006" "2019-07-12 12:55:51" "" "" "SEQ" "DNA" "" "gene panel" "0000296001" "00294833" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296002" "00294834" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296003" "00294835" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296396" "00295228" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296496" "00295328" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296497" "00295329" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000377340" "00376144" "1" "00585" "00585" "2021-06-17 14:26:27" "" "" "SEQ-NG" "DNA" "blood" "" "0000403691" "00402449" "1" "04260" "04260" "2022-02-06 19:31:23" "" "" "MLPA;SEQ;SEQ-NG" "DNA" "" "" "0000444990" "00443498" "1" "04599" "04599" "2023-11-28 00:40:53" "" "" "SEQ-NG-I" "DNA" "B" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 456 "{{screeningid}}" "{{geneid}}" "0000047420" "CDKN2A" "0000090653" "CDKN2A" "0000090654" "CDKN2A" "0000090655" "CDKN2A" "0000090656" "CDKN2A" "0000090657" "CDKN2A" "0000090658" "CDKN2A" "0000090659" "CDKN2A" "0000090660" "CDKN2A" "0000090661" "CDKN2A" "0000090662" "CDKN2A" "0000090663" "CDKN2A" "0000090664" "CDKN2A" "0000090665" "CDKN2A" "0000090666" "CDKN2A" "0000091027" "CDKN2A" "0000111665" "CDKN2A" "0000111666" "CDKN2A" "0000111667" "CDKN2A" "0000111668" "CDKN2A" "0000111669" "CDKN2A" "0000111670" "CDKN2A" "0000111671" "CDKN2A" "0000111672" "CDKN2A" "0000111673" "CDKN2A" "0000111674" "CDKN2A" "0000111675" "CDKN2A" "0000111676" "CDKN2A" "0000111677" "CDKN2A" "0000111678" "CDKN2A" "0000111679" "CDKN2A" "0000111680" "CDKN2A" "0000111681" "CDKN2A" "0000111682" "CDKN2A" "0000111683" "CDKN2A" "0000111684" "CDKN2A" "0000111685" "CDKN2A" "0000111686" "CDKN2A" "0000111687" "CDKN2A" "0000111688" "CDKN2A" "0000111689" "CDKN2A" "0000111690" "CDKN2A" "0000111691" "CDKN2A" "0000111692" "CDKN2A" "0000111693" "CDKN2A" "0000111694" "CDKN2A" "0000111695" "CDKN2A" "0000111696" "CDKN2A" "0000111697" "CDKN2A" "0000111698" "CDKN2A" "0000111699" "CDKN2A" "0000111700" "CDKN2A" "0000111701" "CDKN2A" "0000111702" "CDKN2A" "0000111703" "CDKN2A" "0000111704" "CDKN2A" "0000111705" "CDKN2A" "0000111706" "CDKN2A" "0000111707" "CDKN2A" "0000111708" "CDKN2A" "0000111709" "CDKN2A" "0000111710" "CDKN2A" "0000111711" "CDKN2A" "0000111712" "CDKN2A" "0000111713" "CDKN2A" "0000111714" "CDKN2A" "0000111715" "CDKN2A" "0000111716" "CDKN2A" "0000111717" "CDKN2A" "0000111718" "CDKN2A" "0000111719" "CDKN2A" "0000111720" "CDKN2A" "0000111721" "CDKN2A" "0000111722" "CDKN2A" "0000111723" "CDKN2A" "0000111724" "CDKN2A" "0000111725" "CDKN2A" "0000111726" "CDKN2A" "0000111727" "CDKN2A" "0000111728" "CDKN2A" "0000111729" "CDKN2A" "0000111730" "CDKN2A" "0000111731" "CDKN2A" "0000111732" "CDKN2A" "0000111733" "CDKN2A" "0000111734" "CDKN2A" "0000111735" "CDKN2A" "0000111736" "CDKN2A" "0000111737" "CDKN2A" "0000111738" "CDKN2A" "0000111739" "CDKN2A" "0000111740" "CDKN2A" "0000111741" "CDKN2A" "0000111742" "CDKN2A" "0000111743" "CDKN2A" "0000111744" "CDKN2A" "0000111745" "CDKN2A" "0000111746" "CDKN2A" "0000111747" "CDKN2A" "0000111748" "CDKN2A" "0000111749" "CDKN2A" "0000111750" "CDKN2A" "0000111751" "CDKN2A" "0000111752" "CDKN2A" "0000111753" "CDKN2A" "0000111754" "CDKN2A" "0000111755" "CDKN2A" "0000111756" "CDKN2A" "0000111757" "CDKN2A" "0000111758" "CDKN2A" "0000111759" "CDKN2A" "0000111760" "CDKN2A" "0000111761" "CDKN2A" "0000111762" "CDKN2A" "0000111763" "CDKN2A" "0000111764" "CDKN2A" "0000111765" "CDKN2A" "0000111766" "CDKN2A" "0000111767" "CDKN2A" "0000111768" "CDKN2A" "0000111769" "CDKN2A" "0000111770" "CDKN2A" "0000111771" "CDKN2A" "0000111772" "CDKN2A" "0000111773" "CDKN2A" "0000111774" "CDKN2A" "0000111775" "CDKN2A" "0000111776" "CDKN2A" "0000111777" "CDKN2A" "0000111778" "CDKN2A" "0000111779" "CDKN2A" "0000111780" "CDKN2A" "0000111781" "CDKN2A" "0000111782" "CDKN2A" "0000111783" "CDKN2A" "0000111784" "CDKN2A" "0000111785" "CDKN2A" "0000111786" "CDKN2A" "0000111787" "CDKN2A" "0000111788" "CDKN2A" "0000111789" "CDKN2A" "0000111790" "CDKN2A" "0000111791" "CDKN2A" "0000111792" "CDKN2A" "0000111793" "CDKN2A" "0000111794" "CDKN2A" "0000111795" "CDKN2A" "0000111796" "CDKN2A" "0000111797" "CDKN2A" "0000111798" "CDKN2A" "0000111799" "CDKN2A" "0000111800" "CDKN2A" "0000111801" "CDKN2A" "0000111802" "CDKN2A" "0000111803" "CDKN2A" "0000111804" "CDKN2A" "0000111805" "CDKN2A" "0000111806" "CDKN2A" "0000111807" "CDKN2A" "0000111808" "CDKN2A" "0000111809" "CDKN2A" "0000111810" "CDKN2A" "0000111811" "CDKN2A" "0000111812" "CDKN2A" "0000111813" "CDKN2A" "0000111814" "CDKN2A" "0000111815" "CDKN2A" "0000111816" "CDKN2A" "0000111817" "CDKN2A" "0000111818" "CDKN2A" "0000111819" "CDKN2A" "0000111820" "CDKN2A" "0000111821" "CDKN2A" "0000111822" "CDKN2A" "0000111823" "CDKN2A" "0000111824" "CDKN2A" "0000111825" "CDKN2A" "0000111826" "CDKN2A" "0000111827" "CDKN2A" "0000111828" "CDKN2A" "0000111829" "CDKN2A" "0000111830" "CDKN2A" "0000111831" "CDKN2A" "0000111832" "CDKN2A" "0000111833" "CDKN2A" "0000111834" "CDKN2A" "0000111835" "CDKN2A" "0000111836" "CDKN2A" "0000111899" "CDKN2A" "0000111900" "CDKN2A" "0000111901" "CDKN2A" "0000111902" "CDKN2A" "0000111903" "CDKN2A" "0000111904" "CDKN2A" "0000111905" "CDKN2A" "0000111906" "CDKN2A" "0000111907" "CDKN2A" "0000111908" "CDKN2A" "0000111909" "CDKN2A" "0000111910" "CDKN2A" "0000111911" "CDKN2A" "0000111912" "CDKN2A" "0000111913" "CDKN2A" "0000111914" "CDKN2A" "0000111915" "CDKN2A" "0000111916" "CDKN2A" "0000111917" "CDKN2A" "0000111918" "CDKN2A" "0000111919" "CDKN2A" "0000111920" "CDKN2A" "0000111921" "CDKN2A" "0000111922" "CDKN2A" "0000111923" "CDKN2A" "0000111924" "CDKN2A" "0000111925" "CDKN2A" "0000111926" "CDKN2A" "0000111927" "CDKN2A" "0000111928" "CDKN2A" "0000111929" "CDKN2A" "0000111930" "CDKN2A" "0000111931" "CDKN2A" "0000111932" "CDKN2A" "0000111933" "CDKN2A" "0000111934" "CDKN2A" "0000111935" "CDKN2A" "0000111936" "CDKN2A" "0000111937" "CDKN2A" "0000111938" "CDKN2A" "0000111939" "CDKN2A" "0000111940" "CDKN2A" "0000111941" "CDKN2A" "0000111942" "CDKN2A" "0000111943" "CDKN2A" "0000111944" "CDKN2A" "0000111945" "CDKN2A" "0000111946" "CDKN2A" "0000111947" "CDKN2A" "0000111948" "CDKN2A" "0000111949" "CDKN2A" "0000111950" "CDKN2A" "0000111951" "CDKN2A" "0000111952" "CDKN2A" "0000111953" "CDKN2A" "0000111954" "CDKN2A" "0000111955" "CDKN2A" "0000111956" "CDKN2A" "0000111957" "CDKN2A" "0000111958" "CDKN2A" "0000111959" "CDKN2A" "0000111960" "CDKN2A" "0000111961" "CDKN2A" "0000111962" "CDKN2A" "0000111963" "CDKN2A" "0000111964" "CDKN2A" "0000111965" "CDKN2A" "0000111966" "CDKN2A" "0000111967" "CDKN2A" "0000111968" "CDKN2A" "0000111969" "CDKN2A" "0000111970" "CDKN2A" "0000111971" "CDKN2A" "0000111972" "CDKN2A" "0000111973" "CDKN2A" "0000111974" "CDKN2A" "0000111975" "CDKN2A" "0000111976" "CDKN2A" "0000111977" "CDKN2A" "0000111978" "CDKN2A" "0000111979" "CDKN2A" "0000111980" "CDKN2A" "0000111981" "CDKN2A" "0000111982" "CDKN2A" "0000111983" "CDKN2A" "0000111984" "CDKN2A" "0000111985" "CDKN2A" "0000111986" "CDKN2A" "0000111987" "CDKN2A" "0000111988" "CDKN2A" "0000111989" "CDKN2A" "0000111990" "CDKN2A" "0000111991" "CDKN2A" "0000111992" "CDKN2A" "0000111993" "CDKN2A" "0000111994" "CDKN2A" "0000111995" "CDKN2A" "0000111996" "CDKN2A" "0000111997" "CDKN2A" "0000111998" "CDKN2A" "0000111999" "CDKN2A" "0000112000" "CDKN2A" "0000112001" "CDKN2A" "0000112002" "CDKN2A" "0000112003" "CDKN2A" "0000112004" "CDKN2A" "0000112005" "CDKN2A" "0000112006" "CDKN2A" "0000112007" "CDKN2A" "0000112008" "CDKN2A" "0000112009" "CDKN2A" "0000112010" "CDKN2A" "0000112011" "CDKN2A" "0000112012" "CDKN2A" "0000112013" "CDKN2A" "0000112014" "CDKN2A" "0000112015" "CDKN2A" "0000112016" "CDKN2A" "0000112017" "CDKN2A" "0000112018" "CDKN2A" "0000112019" "CDKN2A" "0000112020" "CDKN2A" "0000112021" "CDKN2A" "0000112022" "CDKN2A" "0000112023" "CDKN2A" "0000112024" "CDKN2A" "0000112025" "CDKN2A" "0000112026" "CDKN2A" "0000112027" "CDKN2A" "0000112028" "CDKN2A" "0000112029" "CDKN2A" "0000112030" "CDKN2A" "0000112031" "CDKN2A" "0000112032" "CDKN2A" "0000112033" "CDKN2A" "0000112034" "CDKN2A" "0000112035" "CDKN2A" "0000112036" "CDKN2A" "0000112037" "CDKN2A" "0000112038" "CDKN2A" "0000112039" "CDKN2A" "0000112040" "CDKN2A" "0000112041" "CDKN2A" "0000112042" "CDKN2A" "0000112043" "CDKN2A" "0000112044" "CDKN2A" "0000112045" "CDKN2A" "0000112046" "CDKN2A" "0000112047" "CDKN2A" "0000112048" "CDKN2A" "0000112049" "CDKN2A" "0000112050" "CDKN2A" "0000112051" "CDKN2A" "0000112052" "CDKN2A" "0000112053" "CDKN2A" "0000112054" "CDKN2A" "0000112055" "CDKN2A" "0000112056" "CDKN2A" "0000112057" "CDKN2A" "0000112058" "CDKN2A" "0000112059" "CDKN2A" "0000112060" "CDKN2A" "0000112061" "CDKN2A" "0000112062" "CDKN2A" "0000112063" "CDKN2A" "0000112064" "CDKN2A" "0000112065" "CDKN2A" "0000112066" "CDKN2A" "0000112067" "CDKN2A" "0000112068" "CDKN2A" "0000112069" "CDKN2A" "0000112070" "CDKN2A" "0000112071" "CDKN2A" "0000112072" "CDKN2A" "0000112073" "CDKN2A" "0000112074" "CDKN2A" "0000112075" "CDKN2A" "0000112076" "CDKN2A" "0000112077" "CDKN2A" "0000112078" "CDKN2A" "0000112079" "CDKN2A" "0000112080" "CDKN2A" "0000112081" "CDKN2A" "0000112082" "CDKN2A" "0000112083" "CDKN2A" "0000112084" "CDKN2A" "0000112085" "CDKN2A" "0000112086" "CDKN2A" "0000112087" "CDKN2A" "0000112088" "CDKN2A" "0000112089" "CDKN2A" "0000112090" "CDKN2A" "0000112091" "CDKN2A" "0000112092" "CDKN2A" "0000112093" "CDKN2A" "0000112094" "CDKN2A" "0000112095" "CDKN2A" "0000112096" "CDKN2A" "0000112097" "CDKN2A" "0000112098" "CDKN2A" "0000112099" "CDKN2A" "0000112100" "CDKN2A" "0000112101" "CDKN2A" "0000112102" "CDKN2A" "0000112103" "CDKN2A" "0000112104" "CDKN2A" "0000112105" "CDKN2A" "0000112106" "CDKN2A" "0000112107" "CDKN2A" "0000112108" "CDKN2A" "0000112109" "CDKN2A" "0000112110" "CDKN2A" "0000112111" "CDKN2A" "0000112112" "CDKN2A" "0000112113" "CDKN2A" "0000112114" "CDKN2A" "0000112115" "CDKN2A" "0000112116" "CDKN2A" "0000112117" "CDKN2A" "0000112118" "CDKN2A" "0000112119" "CDKN2A" "0000112120" "CDKN2A" "0000112121" "CDKN2A" "0000112122" "CDKN2A" "0000112123" "CDKN2A" "0000112124" "CDKN2A" "0000112125" "CDKN2A" "0000112126" "CDKN2A" "0000112127" "CDKN2A" "0000112128" "CDKN2A" "0000112130" "CDKN2A" "0000112131" "CDKN2A" "0000112132" "CDKN2A" "0000112133" "CDKN2A" "0000112134" "CDKN2A" "0000112135" "CDKN2A" "0000112136" "CDKN2A" "0000112137" "CDKN2A" "0000112138" "CDKN2A" "0000112139" "CDKN2A" "0000112144" "CDKN2A" "0000112145" "CDKN2A" "0000112146" "CDKN2A" "0000112147" "CDKN2A" "0000112148" "CDKN2A" "0000117649" "CDKN2A" "0000117650" "CDKN2A" "0000117651" "CDKN2A" "0000117652" "CDKN2A" "0000117653" "CDKN2A" "0000117654" "CDKN2A" "0000156079" "CDKN2A" "0000156080" "CDKN2A" "0000246904" "CDKN2A" "0000246905" "CDKN2A" "0000246906" "CDKN2A" "0000246907" "CDKN2A" "0000246908" "CDKN2A" "0000246910" "CDKN2A" "0000247600" "CDKN2A" "0000403691" "CDKN2A" "0000403691" "CDKN2B" "0000403691" "COQ6" "0000403691" "DGCR8" "0000403691" "LZTR1" "0000403691" "NF2" "0000403691" "SMARCB1" "0000444990" "CDKN2A" ## 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 = 557 "{{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}}" "0000076111" "0" "90" "9" "21974685" "21974685" "subst" "0" "00727" "CDKN2A_000037" "g.21974685G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21974686G>T" "" "pathogenic" "" "0000148782" "1" "50" "9" "21968732" "21968732" "subst" "0.00141036" "01816" "CDKN2A_000179" "g.21968732G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.21968733G>A" "" "VUS" "" "0000148783" "1" "10" "9" "21970916" "21970916" "subst" "0.0208602" "01816" "CDKN2A_000140" "g.21970916C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.21970917C>T" "" "VUS" "" "0000148784" "1" "10" "9" "21970916" "21970916" "subst" "0.0208602" "01816" "CDKN2A_000140" "g.21970916C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.21970917C>T" "" "VUS" "" "0000148785" "1" "30" "9" "21970928" "21970928" "subst" "0.000561705" "01816" "CDKN2A_000176" "g.21970928G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.21970929G>A" "" "VUS" "" "0000148786" "1" "10" "9" "21970979" "21970979" "subst" "0.0012908" "01816" "CDKN2A_000132" "g.21970979C>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.21970980C>A" "" "VUS" "" "0000148787" "1" "50" "9" "21970985" "21970985" "subst" "0.000104324" "01816" "CDKN2A_000129" "g.21970985C>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.21970986C>G" "" "VUS" "" "0000148788" "1" "50" "9" "21970985" "21970985" "subst" "0.000104324" "01816" "CDKN2A_000129" "g.21970985C>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.21970986C>G" "" "VUS" "" "0000148789" "1" "30" "9" "21970989" "21970989" "subst" "0.00027144" "01816" "CDKN2A_000169" "g.21970989A>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.21970990A>T" "" "VUS" "" "0000148790" "1" "50" "9" "21970993" "21970993" "subst" "3.76932E-5" "01816" "CDKN2A_000126" "g.21970993C>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.21970994C>A" "" "VUS" "" "0000148791" "1" "50" "9" "21971040" "21971040" "subst" "0.000219659" "01816" "CDKN2A_000111" "g.21971040C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.21971041C>T" "" "VUS" "" "0000148792" "1" "50" "9" "21974595" "21974595" "subst" "4.06147E-6" "01816" "CDKN2A_000172" "g.21974595T>C" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.21974596T>C" "" "VUS" "" "0000148793" "1" "50" "9" "21974640" "21974640" "subst" "0.00200656" "01816" "CDKN2A_000173" "g.21974640C>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.21974641C>G" "" "VUS" "" "0000148794" "1" "50" "9" "21994288" "21994288" "subst" "0" "01816" "CDKN2A_000174" "g.21994288A>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.21994289A>G" "" "VUS" "" "0000148795" "1" "50" "9" "21994339" "21994339" "subst" "1.31678E-5" "01816" "CDKN2A_000175" "g.21994339C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.21994340C>T" "" "VUS" "" "0000149156" "3" "10" "9" "21970916" "21970916" "subst" "0.0208602" "01816" "CDKN2A_000140" "g.21970916C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.21970917C>T" "" "VUS" "" "0000178814" "0" "55" "9" "21974859" "21974859" "subst" "0.0012018" "00640" "CDKN2A_000155" "g.21974859C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21974860C>G" "" "VUS" "" "0000178815" "0" "50" "9" "21974817" "21974817" "subst" "0" "00006" "CDKN2A_000003" "g.21974817C>T" "" "{PMID:Eliason 2006:16397522}" "" "A4T" "Unclear nomenclature" "Germline" "no" "" "0" "" "" "g.21974818C>T" "" "VUS" "" "0000178816" "0" "55" "9" "21971111" "21971111" "subst" "0" "00006" "CDKN2A_000084" "g.21971111G>A" "" "{PMID:Begg 2005:16234564}" "" "" "" "Germline" "" "" "0" "" "" "g.21971112G>A" "" "VUS" "" "0000178817" "0" "55" "9" "21971109" "21971109" "subst" "0" "00006" "CDKN2A_000086" "g.21971109G>T" "" "{PMID:Begg 2005:16234564}" "" "" "" "Germline" "" "" "0" "" "" "g.21971110G>T" "" "VUS" "" "0000178818" "0" "55" "9" "21971108" "21971108" "subst" "0" "00006" "CDKN2A_000087" "g.21971108C>A" "" "{PMID:Ruiz 1999:10874641}" "" "" "" "Germline" "" "" "0" "" "" "g.21971109C>A" "" "VUS" "" "0000178819" "0" "10" "9" "21971105" "21971105" "subst" "0" "00006" "CDKN2A_000088" "g.21971105C>T" "" "{PMID:FitzGerald 1996:8710906}" "" "" "" "Germline" "" "" "0" "" "" "g.21971106C>T" "" "benign" "" "0000178820" "0" "55" "9" "21971099" "21971099" "subst" "0" "00006" "CDKN2A_000089" "g.21971099G>C" "1 family" "{PMID:Lynch 2002:11815963}" "" "" "" "Germline" "" "" "0" "" "" "g.21971100G>C" "" "VUS" "" "0000178821" "0" "55" "9" "21971099" "21971099" "subst" "8.72265E-6" "00006" "CDKN2A_000090" "g.21971099G>A" "" "{PMID:Ruiz 1999:10874641}" "" "" "another mutation (R87P) described and proven to fail to inhibit the cyclin complex {PMID:Hussussian 1994:7987387}; Protein_p14ARF: p.Pro101Leu" "Germline" "" "" "0" "" "" "g.21971100G>A" "" "VUS" "" "0000178822" "0" "90" "9" "21971098" "21971098" "subst" "0" "00006" "CDKN2A_000091" "g.21971098C>G" "" "{PMID:Ruas 1998:9823374}" "" "" "" "Germline" "" "" "0" "" "" "g.21971099C>G" "" "pathogenic" "" "0000178823" "0" "55" "9" "21971098" "21971098" "del" "0" "00006" "CDKN2A_000092" "g.21971098del" "" "{PMID:Harland 1997:9328469}" "" "" "The new reading frame ends in a STOP codon 57 positions downstream.; chimeric p14ARF-p16 protein" "Germline" "" "" "0" "" "" "g.21971099del" "" "VUS" "" "0000178824" "0" "10" "9" "21971091" "21971091" "subst" "0" "00006" "CDKN2A_000093" "g.21971091G>T" "" "{PMID:FitzGerald 1996:8710906}" "" "p16 codon 98" "" "Germline" "" "" "0" "" "" "g.21971092G>T" "" "benign" "" "0000178825" "0" "55" "9" "21971077" "21971077" "subst" "0" "00006" "CDKN2A_000096" "g.21971077A>T" "" "{PMID:Hocevar 2006:17167857}" "" "" "" "Germline" "" "" "0" "" "" "g.21971078A>T" "" "VUS" "" "0000178826" "0" "50" "9" "21974808" "21974809" "ins" "0" "00006" "CDKN2A_000004" "g.21974808_21974809insN[6]" "" "{PMID:Goldstein 2007:16905682}" "" "18_19ins6" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000178827" "21" "75" "9" "21971077" "21971077" "subst" "0" "02158" "CDKN2A_000096" "g.21971077A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21971078A>T" "" "likely pathogenic" "" "0000178828" "21" "70" "9" "21971077" "21971077" "subst" "0" "02158" "CDKN2A_000096" "g.21971077A>T" "" "" "" "Ala108" "" "Germline" "" "" "0" "" "" "g.21971078A>T" "" "likely pathogenic" "" "0000178829" "0" "55" "9" "21971077" "21971077" "subst" "0" "00006" "CDKN2A_000095" "g.21971077A>G" "" "submitted Harland" "" "" "" "Germline" "" "" "0" "" "" "g.21971078A>G" "" "VUS" "" "0000178830" "0" "90" "9" "21971076" "21971076" "dup" "0" "00006" "CDKN2A_000097" "g.21971076dup" "" "{PMID:Bartsch 2002:1245451}" "" "c.323-324insG, E119X" "The new reading frame ends in a STOP codon 24 positions downstream.; Protein_p14ARF: p.Gly110fs" "Germline" "" "" "0" "" "" "g.21971077dup" "" "pathogenic" "" "0000178831" "0" "10" "9" "21971074" "21971074" "subst" "0" "00006" "CDKN2A_000098" "g.21971074A>T" "" "{PMID:Bartsch 2002:1245451}" "" "324T>A" "" "Germline" "" "" "0" "" "" "g.21971075A>T" "" "benign" "" "0000178832" "0" "90" "9" "21971062" "21971073" "del" "0" "00006" "CDKN2A_000099" "g.21971062_21971073del" "" "{PMID:Yarbrough 2002:12461329}" "" "c.285_296del12 or c.286delGTGCTGCACCGGGinsT" "This deletion causes the loss of 4 residues.; Protein_p14ARF: p.Ala110_Pro113del" "Germline" "" "" "0" "" "" "g.21971063_21971074del" "" "pathogenic" "" "0000178833" "0" "55" "9" "21971068" "21971068" "subst" "0" "00006" "CDKN2A_000100" "g.21971068A>G" "" "{PMID:Soufir 1998:9425228}" "" "p14ARF P113P" "" "Germline" "" "" "0" "" "" "g.21971069A>G" "" "VUS" "" "0000178834" "0" "55" "9" "21971063" "21971063" "subst" "0" "00006" "CDKN2A_000101" "g.21971063G>A" "" "{PMID:Begg 2005:16234564}" "" "p14ARF Pro154Leu" "rs34886500; Protein_p14ARF: p.Pro113Leu" "Germline" "" "" "0" "" "" "g.21971064G>A" "" "VUS" "" "0000178835" "0" "55" "9" "21971062" "21971062" "subst" "0" "00006" "CDKN2A_000102" "g.21971062C>G" "" "{PMID:Soufir 1998:9425228}" "" "" "" "Germline" "" "" "0" "" "" "g.21971063C>G" "" "VUS" "" "0000178836" "0" "55" "9" "21971060" "21971060" "subst" "8.64409E-5" "00006" "CDKN2A_000103" "g.21971060C>A" "" "{PMID:Yarbrough 2002:12461329}" "" "" "" "Germline" "" "" "0" "" "" "g.21971061C>A" "" "VUS" "" "0000178837" "0" "59" "9" "21974805" "21974809" "dup" "0" "01540" "CDKN2A_000158" "g.21974805_21974809dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21974806_21974810dup" "" "VUS" "" "0000178838" "0" "90" "9" "21971057" "21971057" "subst" "0" "00006" "CDKN2A_000104" "g.21971057C>A" "" "{PMID:Blackwood 2002:12001124}" "" "G341T (G101W)" "" "Germline" "" "" "0" "" "" "g.21971058C>A" "" "pathogenic" "" "0000178839" "0" "55" "9" "21971054" "21971054" "subst" "4.31734E-6" "00006" "CDKN2A_000106" "g.21971054C>T" "" "{PMID:Begg 2005:16234564}" "" "p14ARF Gly157Asp" "rs35741010; Protein_p14ARF: p.Gly116Asp" "Germline" "" "" "0" "" "" "g.21971055C>T" "" "VUS" "" "0000178840" "0" "55" "9" "21971052" "21971052" "subst" "0" "00006" "CDKN2A_000107" "g.21971052C>T" "" "{PMID:Begg 2005:16234564}" "" "p14ARF Ala158Thr" "" "Germline" "" "" "0" "" "" "g.21971053C>T" "" "VUS" "" "0000178841" "0" "90" "9" "21971053" "21971054" "del" "0" "00006" "CDKN2A_000108" "g.21971053_21971054del" "" "{PMID:Monzon 1998:9516223}" "" "" "" "Germline" "" "" "0" "" "" "g.21971054_21971055del" "" "pathogenic" "" "0000178842" "0" "55" "9" "21971043" "21971048" "del" "0" "00006" "CDKN2A_000109" "g.21971043_21971048del" "" "{PMID:Liu 1995:7624155}" "" "Asp96_Leu97del" "Inframe deletion; causes the loss of 2 residues.; Protein_p14ARF: p.Ala118_Gly119delinsGly" "Germline" "" "" "0" "" "" "g.21971044_21971049del" "" "VUS" "" "0000178843" "0" "10" "9" "21971043" "21971043" "subst" "3.01807E-5" "00006" "CDKN2A_000110" "g.21971043G>T" "" "{PMID:Fujimoto 1999:10229204}" "" "" "" "Germline" "" "" "0" "" "" "g.21971044G>T" "" "benign" "" "0000178844" "0" "53" "9" "21971040" "21971040" "subst" "0.000219659" "00006" "CDKN2A_000111" "g.21971040C>T" "" "{PMID:FitzGerald 1996:8710906}" "" "" "Found together with patient carrying the p16 Leiden pathogenic mutation (unpublished results).; Protein_p14ARF: p.Ala121Thr" "Germline" "" "" "0" "" "" "g.21971041C>T" "" "VUS" "" "0000178845" "0" "55" "9" "21971040" "21971040" "subst" "0.000219659" "00006" "CDKN2A_000111" "g.21971040C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21971041C>T" "" "VUS" "" "0000178846" "0" "53" "9" "21971040" "21971040" "subst" "0.000219659" "00006" "CDKN2A_000111" "g.21971040C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21971041C>T" "" "VUS" "" "0000178847" "0" "55" "9" "21971040" "21971040" "subst" "0.000219659" "00006" "CDKN2A_000111" "g.21971040C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21971041C>T" "" "VUS" "" "0000178848" "0" "90" "9" "21974783" "21974783" "subst" "0" "00006" "CDKN2A_000005" "g.21974783C>T" "" "{PMID:FitzGerald 1996:8710906}" "" "" "Nonsense substitution." "Germline" "" "" "0" "" "" "g.21974784C>T" "" "pathogenic" "" "0000178849" "0" "55" "9" "21971040" "21971040" "subst" "0.000219659" "00006" "CDKN2A_000111" "g.21971040C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21971041C>T" "" "VUS" "" "0000178850" "0" "55" "9" "21971040" "21971040" "subst" "0.000219659" "00006" "CDKN2A_000111" "g.21971040C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21971041C>T" "" "VUS" "" "0000178851" "0" "55" "9" "21971039" "21971039" "subst" "0" "00006" "CDKN2A_000112" "g.21971039G>A" "" "{PMID:FitzGerald 1996:8710906}" "" "" "" "Germline" "" "" "0" "" "" "g.21971040G>A" "" "VUS" "" "0000178852" "0" "55" "9" "21971036" "21971036" "subst" "0" "00006" "CDKN2A_000113" "g.21971036C>T" "" "{PMID:Flores 1997:9416844}" "" "" "Found together with patient carrying the p16 Leiden pathogenic mutation (unpublished results).; Protein_p14ARF: p.Arg122Gln" "Germline" "" "" "0" "" "" "g.21971037C>T" "" "VUS" "" "0000178853" "0" "55" "9" "21971028" "21971028" "subst" "0" "00006" "CDKN2A_000114" "g.21971028C>T" "" "{PMID:Stratigos 2006:16374456}" "" "" "" "Germline" "" "" "0" "" "" "g.21971029C>T" "" "VUS" "" "0000178854" "1" "90" "9" "21971022" "21971024" "dup" "0" "00006" "CDKN2A_000115" "g.21971022_21971024dup" "" "{PMID:Borg 1996:8653684}" "" "Ins R113" "Founder mutation in Sweden" "Germline" "" "" "0" "" "" "g.21971023_21971025dup" "" "pathogenic" "" "0000178855" "0" "55" "9" "21971024" "21971024" "subst" "0" "00006" "CDKN2A_000116" "g.21971024G>C" "" "{PMID:Holland 1999:10398427}" "" "" "" "Germline" "" "" "0" "" "" "g.21971025G>C" "" "VUS" "" "0000178856" "0" "55" "9" "21971023" "21971023" "subst" "0" "00006" "CDKN2A_000117" "g.21971023C>T" "" "Weiss, submitted 2007" "" "" "" "Germline" "" "" "0" "" "" "g.21971024C>T" "" "VUS" "" "0000178857" "0" "10" "9" "21971019" "21971019" "subst" "0" "00006" "CDKN2A_000118" "g.21971019C>T" "" "{PMID:FitzGerald 1996:8710906}" "" "" "Found in tandem with Pro114Ser ({PMID:Kannengiesser 2007:17492760}); Protein_p14ARF: p.Ala128Thr" "Germline" "" "" "0" "" "" "g.21971020C>T" "" "benign" "" "0000178858" "0" "55" "9" "21971018" "21971018" "subst" "0" "00006" "CDKN2A_000119" "g.21971018G>A" "" "{PMID:Auroy 2001:11579459}" "" "" "" "Germline" "" "" "0" "" "" "g.21971019G>A" "" "VUS" "" "0000178859" "0" "90" "9" "21974782" "21974782" "subst" "4.303E-6" "00006" "CDKN2A_000006" "g.21974782C>T" "" "{PMID:Holland 1999:10398427}" "" "" "Nonsense substitution." "Germline" "" "" "0" "" "" "g.21974783C>T" "" "pathogenic" "" "0000178860" "0" "55" "9" "21971017" "21971017" "subst" "0" "00006" "CDKN2A_000120" "g.21971017G>A" "" "{PMID:Fargnoli 1998:9856841}" "" "" "" "Germline" "" "" "0" "" "" "g.21971018G>A" "" "VUS" "" "0000178861" "0" "55" "9" "21971014" "21971014" "subst" "8.47486E-6" "00006" "CDKN2A_000121" "g.21971014A>C" "" "{PMID:Borg 2000:10922411}" "" "" "" "Germline" "" "" "0" "" "" "g.21971015A>C" "" "VUS" "" "0000178862" "0" "90" "9" "21971199" "21971199" "subst" "9.16893E-6" "00006" "CDKN2A_000048" "g.21971199C>G" "" "{PMID:Blackwood 2002:12001124}" "" "G199C (M53I)" "" "Germline" "" "" "0" "" "" "g.21971200C>G" "" "pathogenic" "" "0000178863" "0" "55" "9" "21971006" "21971006" "subst" "0" "00006" "CDKN2A_000123" "g.21971006C>T" "" "{PMID:Bishop 2002:12072543}" "" "" "" "Germline" "" "" "0" "" "" "g.21971007C>T" "" "VUS" "" "0000178864" "0" "55" "9" "21971005" "21971005" "subst" "0" "00006" "CDKN2A_000124" "g.21971005G>A" "" "{PMID:Helsing 2008:18023021}" "" "" "" "Germline" "" "" "0" "" "" "g.21971006G>A" "" "VUS" "" "0000178865" "0" "90" "9" "21971001" "21971001" "del" "0" "00006" "CDKN2A_000125" "g.21971001del" "" "{PMID:Goldstein 2007:16905682}" "" "The new reading frame ends in a STOP codon 25 positions downstream." "" "Germline" "" "" "0" "" "" "g.21971002del" "" "pathogenic" "" "0000178866" "0" "55" "9" "21970993" "21970993" "subst" "3.76932E-5" "00006" "CDKN2A_000126" "g.21970993C>A" "" "{PMID:Yakobson 2000:10951521}" "" "" "" "Germline" "" "" "0" "" "" "g.21970994C>A" "" "VUS" "" "0000178867" "0" "55" "9" "21970989" "21970989" "subst" "2.9232E-5" "00006" "CDKN2A_000127" "g.21970989A>G" "" "submitted Harland" "" "" "" "Germline" "" "" "0" "" "" "g.21970990A>G" "" "VUS" "" "0000178868" "0" "55" "9" "21970988" "21970988" "subst" "0.00011696" "00006" "CDKN2A_000128" "g.21970988G>A" "" "{PMID:Begg 2005:16234564}" "" "" "rs34170727" "Germline" "" "" "0" "" "" "g.21970989G>A" "" "VUS" "" "0000178869" "0" "55" "9" "21970985" "21970985" "subst" "0.000104324" "00006" "CDKN2A_000129" "g.21970985C>G" "" "{PMID:Holland 1999:10398427}" "" "" "" "Germline" "" "" "0" "" "" "g.21970986C>G" "" "VUS" "" "0000178870" "0" "90" "9" "21974781" "21974781" "del" "0" "00006" "CDKN2A_000007" "g.21974781del" "" "{PMID:Bishop 2002:12072543}" "" "" "The new reading frame ends in a STOP codon 9 positions downstream." "Germline" "" "" "0" "" "" "g.21974782del" "" "pathogenic" "" "0000178871" "0" "90" "9" "21970981" "21970981" "subst" "0" "00006" "CDKN2A_000130" "g.21970981A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21970982A>T" "" "pathogenic" "" "0000178872" "0" "55" "9" "21970979" "21970979" "subst" "4.16386E-6" "00006" "CDKN2A_000131" "g.21970979C>G" "" "{PMID:Lynch 2002:11815963}" "" "" "" "Germline" "" "" "0" "" "" "g.21970980C>G" "" "VUS" "" "0000178873" "0" "99" "9" "21970979" "21970979" "subst" "0.0012908" "00006" "CDKN2A_000132" "g.21970979C>A" "" "{PMID:Ruas 1998:9823374}" "" "" "rs6413464" "Germline" "" "" "0" "" "" "g.21970980C>A" "" "pathogenic" "" "0000178874" "0" "55" "9" "21970974" "21970974" "subst" "0.000108012" "00006" "CDKN2A_000133" "g.21970974C>T" "" "{PMID:Landi 2004:15235029}" "" "" "" "Germline" "" "" "0" "" "" "g.21970975C>T" "" "VUS" "" "0000178875" "0" "55" "9" "21970972" "21970973" "del" "0" "00006" "CDKN2A_000134" "g.21970972_21970973del" "" "submitted Harland" "" "" "The new reading frame ends in a STOP codon 11 positions downstream." "Germline" "" "" "0" "" "" "g.21970973_21970974del" "" "VUS" "" "0000178876" "0" "55" "9" "21970970" "21970970" "subst" "0" "00006" "CDKN2A_000135" "g.21970970G>C" "" "{PMID:Helsing 2008:18023021}" "" "" "" "Germline" "" "" "0" "" "" "g.21970971G>C" "" "VUS" "" "0000178877" "0" "55" "9" "21970966" "21970966" "subst" "0" "00006" "CDKN2A_000136" "g.21970966C>G" "" "{PMID:Helsing 2008:18023021}" "" "" "" "Germline" "" "" "0" "" "" "g.21970967C>G" "" "VUS" "" "0000178878" "0" "55" "9" "21970953" "21970953" "subst" "8.6968E-5" "00006" "CDKN2A_000137" "g.21970953C>T" "" "submitted Weiss" "" "" "" "Germline" "" "" "0" "" "" "g.21970954C>T" "" "VUS" "" "0000178879" "0" "55" "9" "21970945" "21970945" "subst" "0" "00006" "CDKN2A_000138" "g.21970945C>G" "" "submitted Weiss" "" "" "" "Germline" "" "" "0" "" "" "g.21970946C>G" "" "VUS" "" "0000178880" "0" "10" "9" "21970931" "21970931" "subst" "1.23873E-5" "00006" "CDKN2A_000139" "g.21970931C>T" "" "{PMID:Orlow 2007:17218939}" "" "" "" "Germline" "" "" "0" "" "" "g.21970932C>T" "" "benign" "" "0000178881" "0" "55" "9" "21974780" "21974780" "subst" "0" "00006" "CDKN2A_000008" "g.21974780A>G" "" "{PMID:Soufir 1998:9425228}" "" "c.47T>G" "" "Germline" "" "" "0" "" "" "g.21974781A>G" "" "VUS" "" "0000178882" "0" "55" "9" "21970916" "21970916" "subst" "0.0208602" "00006" "CDKN2A_000140" "g.21970916C>T" "" "{PMID:FitzGerald 1996:8710906}" "" "482G>A (Bartsch 2002)" "rs3731249" "Germline" "" "" "0" "" "" "g.21970917C>T" "" "VUS" "" "0000178883" "0" "90" "9" "21970901" "21970901" "subst" "0" "00006" "CDKN2A_000141" "g.21970901C>A" "" "{PMID:Kannengieser 2003:14506702}" "" "451G>T, Asp145Cys (Moskaluk 1998)" "lacks 24 amino acids encoded by exon 2 and suffers a frameshift in exon 3 ({PMID:Loo 2003:14508519})" "Germline" "" "" "0" "" "" "g.21970902C>A" "" "pathogenic" "" "0000178884" "0" "90" "9" "21970900" "21970900" "subst" "0" "00006" "CDKN2A_000142" "g.21970900C>A" "" "{PMID:Bishop 2002:12072543}" "" "" "lacks 24 amino acids encoded by exon 2 and suffers a frameshift in exon 3 (Loo 2003)" "Germline" "" "" "0" "" "" "g.21970901C>A" "" "pathogenic" "" "0000178885" "0" "55" "9" "21970818" "21970818" "subst" "0" "00006" "CDKN2A_000145" "g.21970818G>A" "" "{PMID:Goldstein 2008:18178632}" "" "" "" "Germline" "" "" "0" "" "" "g.21970819G>A" "" "VUS" "" "0000178886" "0" "55" "9" "21970674" "21970674" "subst" "0" "00006" "CDKN2A_000146" "g.21970674T>C" "" "{PMID:Goldstein 2008:18178632}" "" "" "" "Germline" "" "" "0" "" "" "g.21970675T>C" "" "VUS" "" "0000178887" "0" "10" "9" "21970427" "21970427" "subst" "0" "00006" "CDKN2A_000143" "g.21970427A>G" "" "submitted Harland" "" "" "rs2518719" "Germline" "" "" "0" "" "" "g.21970428A>G" "" "benign" "" "0000178888" "0" "55" "9" "21970223" "21970223" "subst" "0" "00006" "CDKN2A_000144" "g.21970223A>G" "" "submitted Harland" "" "" "" "Germline" "" "" "0" "" "" "g.21970224A>G" "" "VUS" "" "0000178889" "0" "55" "9" "21968519" "21968519" "subst" "0" "00006" "CDKN2A_000150" "g.21968519G>A" "" "submitted Harland" "" "" "rs45502295" "Germline" "" "" "0" "" "" "g.21968520G>A" "" "VUS" "" "0000178890" "0" "90" "9" "21968346" "21968346" "subst" "0" "00006" "CDKN2A_000149" "g.21968346T>C" "" "{PMID:Harland 2001:11726555}" "" "" "Creates a false GT splice donor site 105 bases 5\' of exon 3 and results in aberrant splicing (Harland 2001)" "Germline" "" "" "0" "" "" "g.21968347T>C" "" "pathogenic" "" "0000178891" "0" "55" "9" "21968330" "21968330" "subst" "0" "00006" "CDKN2A_000148" "g.21968330G>A" "" "submitted Harland" "" "" "" "Germline" "" "" "0" "" "" "g.21968331G>A" "" "VUS" "" "0000178892" "0" "55" "9" "21974780" "21974780" "subst" "0" "00006" "CDKN2A_000009" "g.21974780A>C" "" "{PMID:Bishop 2002:12072543}" "" "L16P" "" "Germline" "" "" "0" "" "" "g.21974781A>C" "" "VUS" "" "0000178893" "0" "55" "9" "21968301" "21968301" "subst" "0" "00006" "CDKN2A_000147" "g.21968301T>A" "" "submitted Weiss" "" "" "" "Germline" "" "" "0" "" "" "g.21968302T>A" "" "VUS" "" "0000178894" "0" "10" "9" "21968199" "21968199" "subst" "0" "00006" "CDKN2A_000151" "g.21968199G>C" "" "{PMID:Orlow 2007:17218939}" "" "500C>G" "rs11515\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.21968200G>C" "" "benign" "" "0000178895" "0" "10" "9" "21968159" "21968159" "subst" "0" "00006" "CDKN2A_000152" "g.21968159G>A" "" "{PMID:Goldstein 2008:18178632}" "" "540C>T" "rs3088440" "Germline" "" "" "0" "" "" "g.21968160G>A" "" "benign" "" "0000178896" "0" "90" "9" "21974774" "21974779" "dup" "0" "00006" "CDKN2A_000010" "g.21974774_21974779dup" "" "{PMID:Soufir 1998:9425228}" "" "" "This duplication causes the duplication of 2 residue(s): TA." "Germline" "" "" "0" "" "" "g.21974775_21974780dup" "" "pathogenic" "" "0000178897" "0" "55" "9" "21974760" "21974760" "subst" "0" "00006" "CDKN2A_000013" "g.21974760C>T" "" "{PMID:Orlow 2007:17218939}" "" "" "" "Germline" "" "" "0" "" "" "g.21974761C>T" "" "VUS" "" "0000178898" "0" "59" "9" "21967751" "21994490" "" "0" "01540" "CDKN2A_000159" "g.(21800000_21967751)_(21994490_22050000)del" "" "" "" "whole gene deletion" "de novo, in patient; ~155 kb deletion includes CDKN2B, CDKN2A and part of MTAP, boundaries NOT defined." "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000178899" "0" "55" "9" "21974760" "21974760" "subst" "0" "00006" "CDKN2A_000011" "g.21974760C>G" "" "{PMID:Begg 2005:16234564}" "" "" "" "Germline" "" "" "0" "" "" "g.21974761C>G" "" "VUS" "" "0000178900" "0" "55" "9" "21974760" "21974760" "subst" "0" "00006" "CDKN2A_000012" "g.21974760C>A" "" "{PMID:Blackwood 2002:12001124}" "" "G>T (G23C)" "" "Germline" "" "" "0" "" "" "g.21974761C>A" "" "VUS" "" "0000178901" "0" "55" "9" "21974759" "21974759" "subst" "0" "00006" "CDKN2A_000014" "g.21974759C>T" "" "{PMID:Soufir 1998:9425228}" "" "" "" "Germline" "" "" "0" "" "" "g.21974760C>T" "" "VUS" "" "0000178902" "0" "55" "9" "21974756" "21974756" "subst" "1.28192E-5" "00006" "CDKN2A_000016" "g.21974756C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21974757C>T" "" "VUS" "" "0000178903" "0" "55" "9" "21974756" "21974756" "subst" "1.70923E-5" "00006" "CDKN2A_000015" "g.21974756C>G" "" "{PMID:Harland 1997:9328469}" "" "" "" "Germline" "" "" "0" "" "" "g.21974757C>G" "" "VUS" "" "0000178904" "0" "90" "9" "21974748" "21974748" "subst" "0" "00006" "CDKN2A_000018" "g.21974748C>A" "" "{PMID:Ghiorzo 2006:16893909}" "" "" "" "Germline" "" "" "0" "" "" "g.21974749C>A" "" "pathogenic" "" "0000178905" "0" "90" "9" "21974744" "21974744" "dup" "0" "00006" "CDKN2A_000020" "g.21974744dup" "" "{PMID:Hashemi 2000:11156381}" "" "" "The new reading frame ends in a STOP codon 14 positions downstream." "Germline" "" "" "0" "" "" "g.21974745dup" "" "pathogenic" "" "0000178906" "0" "55" "9" "21974744" "21974744" "subst" "0" "00006" "CDKN2A_000019" "g.21974744A>C" "" "{PMID:Blackwood 2002:12001124}" "" "T122G (V28G)" "" "Germline" "" "" "0" "" "" "g.21974745A>C" "" "VUS" "" "0000178907" "0" "90" "9" "21974741" "21974741" "del" "0" "00006" "CDKN2A_000021" "g.21974741del" "" "{PMID:Bishop 2002:12072543}" "" "" "The new reading frame ends in a STOP codon 22 positions downstream." "Germline" "" "" "0" "" "" "g.21974742del" "" "pathogenic" "" "0000178908" "0" "55" "9" "21974732" "21974732" "subst" "0" "00006" "CDKN2A_000022" "g.21974732A>G" "" "{PMID:Walker 1995:8595405}" "" "" "" "Germline" "" "" "0" "" "" "g.21974733A>G" "" "VUS" "" "0000178909" "0" "99" "9" "21994137" "21994137" "subst" "0" "00006" "CDKN2A_000154" "g.21994137C>T" "" "" "" "c.193+1G>A" "Splicing affected; cryptic splice donor site activated at -12 in p14ARF (NM_058195.3) 5\'UTR, acceptor site activated in exon 2 at base 463." "Germline" "" "" "0" "" "" "g.21994138C>T" "" "pathogenic" "" "0000178910" "0" "55" "9" "21974726" "21974727" "del" "0" "00006" "CDKN2A_000023" "g.21974726_21974727del" "" "" "" "" "The new reading frame ends in a STOP codon 8 positions downstream." "Germline" "" "" "0" "" "" "g.21974727_21974728del" "" "VUS" "" "0000178911" "0" "90" "9" "21974723" "21974723" "subst" "1.2435E-5" "00006" "CDKN2A_000024" "g.21974723C>G" "" "{PMID:Hearle 2003:12556369}" "" "" "" "Germline" "" "" "0" "" "" "g.21974724C>G" "" "pathogenic" "" "0000178912" "0" "55" "9" "21974722" "21974722" "subst" "0" "00006" "CDKN2A_000025" "g.21974722C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21974723C>T" "" "VUS" "" "0000178913" "0" "55" "9" "21974721" "21974721" "subst" "0" "00006" "CDKN2A_000026" "g.21974721C>G" "" "{PMID:Holland 1999:10398427}" "" "" "" "Germline" "" "" "0" "" "" "g.21974722C>G" "" "VUS" "" "0000178914" "0" "55" "9" "21974716" "21974716" "subst" "0" "00006" "CDKN2A_000027" "g.21974716C>A" "" "{PMID:Auroy 2001:11579459}" "" "" "" "Germline" "" "" "0" "" "" "g.21974717C>A" "" "VUS" "" "0000178915" "0" "55" "9" "21974715" "21974715" "subst" "0" "00006" "CDKN2A_000028" "g.21974715G>A" "" "{PMID:Lukowsky 2007:17890059}" "" "" "" "Germline" "" "" "0" "" "" "g.21974716G>A" "" "VUS" "" "0000178916" "0" "55" "9" "21974714" "21974714" "subst" "0" "00006" "CDKN2A_000029" "g.21974714G>C" "" "{PMID:Goldstein 2007:16905682}" "" "" "" "Germline" "" "" "0" "" "" "g.21974715G>C" "" "VUS" "" "0000178917" "0" "10" "9" "21974707" "21974707" "subst" "0" "00006" "CDKN2A_000030" "g.21974707T>G" "" "{PMID:Pollock 2001:11477665}" "" "" "p.Ala40" "Germline" "" "" "0" "" "" "g.21974708T>G" "" "benign" "" "0000178918" "0" "10" "9" "21974704" "21974704" "subst" "4.14917E-6" "00006" "CDKN2A_000031" "g.21974704C>T" "" "{PMID:Begg 2005:16234564}" "" "" "p.Pro41" "Germline" "" "" "0" "" "" "g.21974705C>T" "" "benign" "" "0000178919" "0" "90" "9" "21974696" "21974696" "dup" "0" "00006" "CDKN2A_000032" "g.21974696dup" "" "{PMID:Begg 2005:16234564}" "" "" "codon Tyr44 is replaced by a STOP codon." "Germline" "" "" "0" "" "" "g.21974697dup" "" "pathogenic" "" "0000178920" "0" "99" "9" "21994137" "21994137" "subst" "0" "00006" "CDKN2A_000154" "g.21994137C>T" "" "" "" "c.193+1G>A" "Splicing affected; cryptic splice donor site activated at -12 in p14ARF (NM_058195.3) 5\'UTR, acceptor site activated in exon 2 at base 463." "Germline" "" "" "0" "" "" "g.21994138C>T" "" "pathogenic" "" "0000178921" "0" "90" "9" "21974696" "21974697" "ins" "0" "00006" "CDKN2A_000033" "g.21974696_21974697insTT" "" "{PMID:MacKie 1998:9699728}" "" "" "codon Tyr44 is replaced by a STOP codon." "Germline" "" "" "0" "" "" "g.21974697_21974698insTT" "" "pathogenic" "" "0000178922" "0" "90" "9" "21974695" "21974695" "subst" "0" "00006" "CDKN2A_000035" "g.21974695G>T" "" "{PMID:Begg 2005:16234564}" "" "" "The reading frame is interrupted by a premature STOP codon." "Germline" "" "" "0" "" "" "g.21974696G>T" "" "pathogenic" "" "0000178923" "0" "90" "9" "21974695" "21974695" "subst" "0" "00006" "CDKN2A_000034" "g.21974695G>C" "" "{PMID:MacKie 1998:9699728}" "" "" "The reading frame is interrupted by a premature STOP codon." "Germline" "" "" "0" "" "" "g.21974696G>C" "" "pathogenic" "" "0000178924" "0" "55" "9" "21974691" "21974691" "subst" "0" "00006" "CDKN2A_000036" "g.21974691G>T" "" "{PMID:Orlow 2007:17218939}" "" "" "" "Germline" "" "" "0" "" "" "g.21974692G>T" "" "VUS" "" "0000178925" "0" "70" "9" "21974685" "21974685" "subst" "0" "00006" "CDKN2A_000037" "g.21974685G>T" "" "{PMID:Della Torre 2001:11556834}" "" "" "" "Germline" "" "" "0" "" "" "g.21974686G>T" "" "likely pathogenic" "" "0000178926" "0" "55" "9" "21974684" "21974684" "subst" "0" "00006" "CDKN2A_000039" "g.21974684G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21974685G>T" "" "VUS" "" "0000178927" "0" "55" "9" "21974684" "21974684" "subst" "0" "00006" "CDKN2A_000038" "g.21974684G>A" "" "{PMID:Platz 1997:9168184}" "" "" "" "Germline" "" "" "0" "" "" "g.21974685G>A" "" "VUS" "" "0000178928" "0" "55" "9" "21974681" "21974681" "subst" "0.000617865" "00006" "CDKN2A_000041" "g.21974681A>G" "" "{PMID:Ranade 1995:7647780}" "" "" "" "Germline" "" "" "0" "" "" "g.21974682A>G" "" "VUS" "" "0000178929" "0" "90" "9" "21974681" "21974681" "subst" "0" "00006" "CDKN2A_000040" "g.21974681A>C" "" "{PMID:Holland 1999:10398427}" "" "" "" "Germline" "" "" "0" "" "" "g.21974682A>C" "" "pathogenic" "" "0000178930" "0" "55" "9" "21974679" "21974679" "subst" "0" "00006" "CDKN2A_000042" "g.21974679G>A" "" "{PMID:Bartsch 2002:12454511}" "" "c.188C>T" "" "Germline" "" "" "0" "" "" "g.21974680G>A" "" "VUS" "" "0000178931" "0" "59" "9" "21994137" "21994137" "subst" "0" "00006" "CDKN2A_000154" "g.21994137C>T" "" "" "" "c.193+1G>A" "Splicing affected; cryptic splice donor site activated at -12 in p14ARF (NM_058195.3) 5\'UTR, acceptor site activated in exon 2 at base 463." "Germline" "" "" "0" "" "" "g.21994138C>T" "" "VUS" "" "0000178932" "0" "55" "9" "21974678" "21974678" "subst" "0" "00006" "CDKN2A_000043" "g.21974678T>G" "" "{PMID:Lynch 2002:11815963}" "" "" "Variant occurs in splice site." "Germline" "" "" "0" "" "" "g.21974679T>G" "" "VUS" "" "0000178933" "0" "55" "9" "21974678" "21974678" "subst" "4.08951E-6" "00006" "CDKN2A_000044" "g.21974678T>C" "" "{PMID:Walker 1995:8595405}" "" "" "Variant occurs in splice site." "Germline" "" "" "0" "" "" "g.21974679T>C" "" "VUS" "" "0000178934" "0" "55" "9" "21971207" "21971207" "subst" "0" "00006" "CDKN2A_000045" "g.21971207C>A" "" "{PMID:Goldstein 2007:16905682}" "" "V51F" "" "Germline" "" "" "0" "" "" "g.21971208C>A" "" "VUS" "" "0000178935" "0" "95" "9" "21971034" "21971049" "del" "0" "00006" "CDKN2A_000069" "g.21971034_21971049del" "" "{PMID:Blackwood 2002:12001124}" "" "349del16 104fs X140" "" "Germline" "" "" "0" "" "" "g.21971035_21971050del" "" "pathogenic" "" "0000178936" "0" "50" "9" "21971152" "21971152" "subst" "9.63382E-6" "00006" "CDKN2A_000075" "g.21971152T>C" "" "{PMID:Goldstein 2007:16905682}" "" "E69G" "" "Germline" "" "" "0" "" "" "g.21971153T>C" "" "VUS" "" "0000178937" "1" "55" "9" "21971111" "21971111" "subst" "0" "00006" "CDKN2A_000085" "g.21971111G>T" "" "{PMID:Lang 2005:16307646}" "" "" "" "Germline" "" "" "0" "" "" "g.21971112G>T" "" "VUS" "" "0000178938" "0" "55" "9" "21971092" "21971092" "subst" "0" "00006" "CDKN2A_000094" "g.21971092C>T" "" "{PMID:Goldstein 2008:18178632}" "" "" "" "Germline" "" "" "0" "" "" "g.21971093C>T" "" "VUS" "" "0000178939" "0" "95" "9" "21971054" "21971055" "ins" "0" "00006" "CDKN2A_000105" "g.21971054_21971055insG" "" "{PMID:Chaudru 2004:15150307}" "" "304insC, p.FS102,119X" "unclear nomenclature" "Germline" "" "" "0" "" "" "g.21971055_21971056insG" "" "pathogenic" "" "0000178940" "0" "55" "9" "21971209" "21971209" "subst" "0" "01540" "CDKN2A_000153" "g.21971209T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21971210T>C" "" "VUS" "" "0000178941" "0" "70" "9" "21971208" "21971208" "subst" "0" "02158" "CDKN2A_000160" "g.21971208C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.21971209C>T" "" "likely pathogenic" "" "0000178942" "0" "55" "9" "21974921" "21974921" "subst" "0" "01540" "CDKN2A_000156" "g.21974921C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21974922C>T" "" "VUS" "" "0000178943" "0" "55" "9" "21971201" "21971201" "subst" "0" "00006" "CDKN2A_000046" "g.21971201T>C" "" "{PMID:Yang 2004:15304098}" "" "157G>A" "" "Germline" "" "" "0" "" "" "g.21971202T>C" "" "VUS" "" "0000178944" "0" "90" "9" "21971200" "21971200" "subst" "0" "00006" "CDKN2A_000047" "g.21971200A>G" "" "{PMID:Huot 2002:12417717}" "" "" "found together with c.322G>A, p.Asp108Asn; functionally tested as pathogenic; Protein_p14ARF: p.Asp67" "Germline" "" "" "0" "" "" "g.21971201A>G" "" "pathogenic" "" "0000178945" "0" "90" "9" "21971199" "21971199" "subst" "0" "00006" "CDKN2A_000049" "g.21971199C>T" "" "{PMID:Begg 2005:16234564}" "" "" "" "Germline" "" "" "0" "" "" "g.21971200C>T" "" "pathogenic" "" "0000178946" "0" "90" "9" "21971199" "21971199" "subst" "9.16893E-6" "00006" "CDKN2A_000048" "g.21971199C>G" "" "{PMID:Soufir 1998:9425228}" "" "" "" "Germline" "" "" "0" "" "" "g.21971200C>G" "" "pathogenic" "" "0000178947" "0" "55" "9" "21971196" "21971196" "subst" "0" "00006" "CDKN2A_000050" "g.21971196C>A" "" "{PMID:Chaubert 1997:9185756}" "" "" "" "Germline" "" "" "0" "" "" "g.21971197C>A" "" "VUS" "" "0000178948" "0" "90" "9" "21971136" "21971193" "del" "0" "00006" "CDKN2A_000051" "g.21971136_21971193del" "" "{PMID:FitzGerald 1996:8710906}" "" "" "Chimeric p14ARF-p16 protein contains the 82 C-terminal amino acids of p16 substituted for the terminal 62 amino acids of p14ARF ({PMID:FitzGerald 1996:8710906}); chimeric p14ARF-p16 protein" "Germline" "" "" "0" "" "" "g.21971137_21971194del" "" "pathogenic" "" "0000178949" "0" "55" "9" "21971191" "21971191" "subst" "0" "00006" "CDKN2A_000053" "g.21971191C>A" "" "{PMID:Soufir 1998:9425228}" "" "" "homozygous patient ({PMID:Kannengiesser 2007:17492760}); Protein_p14ARF: p.Gln70His" "Germline" "" "" "0" "" "" "g.21971192C>A" "" "VUS" "" "0000178950" "0" "90" "9" "21971163" "21971193" "del" "0" "00006" "CDKN2A_000052" "g.21971163_21971193del" "" "{PMID:Bishop 2002:12072543}" "" "c.167_197del31" "" "Germline" "" "" "0" "" "" "g.21971164_21971194del" "" "pathogenic" "" "0000178951" "0" "55" "9" "21971188" "21971188" "subst" "2.7636E-5" "00006" "CDKN2A_000055" "g.21971188G>C" "" "{PMID:Helsing 2008:18023021}" "" "" "" "Germline" "" "" "0" "" "" "g.21971189G>C" "" "VUS" "" "0000178952" "0" "55" "9" "21971188" "21971188" "subst" "9.212E-5" "00006" "CDKN2A_000054" "g.21971188G>A" "" "{PMID:Soufir 1998:9425228}" "" "" "reported for p14ARF as R112R by {PMID:Goldstein 2008:18178632}; Protein_p14ARF: p.= (Arg71)" "Germline" "" "" "0" "" "" "g.21971189G>A" "" "VUS" "" "0000178953" "0" "55" "9" "21974851" "21974851" "subst" "0.00310457" "01540" "CDKN2A_000157" "g.21974851G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21974852G>A" "" "VUS" "" "0000178954" "0" "90" "9" "21971186" "21971186" "subst" "0" "00006" "CDKN2A_000056" "g.21971186G>A" "" "{PMID:Chaubert 1997:9185756}" "" "" "" "Germline" "" "" "0" "" "" "g.21971187G>A" "" "pathogenic" "" "0000178955" "0" "55" "9" "21971184" "21971184" "subst" "0.000693584" "00006" "CDKN2A_000057" "g.21971184T>G" "" "{PMID:Begg 2005;16234564}" "" "" "" "Germline" "" "" "0" "" "" "g.21971185T>G" "" "VUS" "" "0000178956" "0" "55" "9" "21971182" "21971182" "subst" "4.63255E-6" "00006" "CDKN2A_000058" "g.21971182A>C" "" "{PMID:Soufir 1998:9425228}" "" "" "recurrent mutation in 4 different families (Israel, French 2x, Spanish) ({PMID:Yakobson 2003:12700603}); Protein_p14ARF: p.Ser73Arg" "Germline" "" "" "0" "" "" "g.21971183A>C" "" "VUS" "" "0000178957" "0" "55" "9" "21971179" "21971179" "subst" "0" "00006" "CDKN2A_000059" "g.21971179G>A" "" "{PMID:Begg 2005:16234564}" "" "" "" "Germline" "" "" "0" "" "" "g.21971180G>A" "" "VUS" "" "0000178958" "0" "90" "9" "21971157" "21971180" "del" "0" "00006" "CDKN2A_000060" "g.21971157_21971180del" "" "{PMID:Hashemi 2000:11156381}" "" "" "" "Germline" "" "" "0" "" "" "g.21971158_21971181del" "" "pathogenic" "" "0000178959" "0" "55" "9" "21971173" "21971173" "subst" "0" "00006" "CDKN2A_000061" "g.21971173A>G" "" "{PMID:Soufir 1998:9425228}" "" "" "" "Germline" "" "" "0" "" "" "g.21971174A>G" "" "VUS" "" "0000178960" "0" "55" "9" "21971170" "21971170" "subst" "0" "00006" "CDKN2A_000062" "g.21971170A>G" "" "{PMID:Goldstein 2007:16905682}" "" "" "" "Germline" "" "" "0" "" "" "g.21971171A>G" "" "VUS" "" "0000178961" "0" "10" "9" "21971166" "21971166" "subst" "0" "00006" "CDKN2A_000063" "g.21971166C>T" "" "{PMID:FitzGerald 1996:8710906}" "" "" "319C>T, Arg107Cys variant found in same patient; Protein_p14ARF: p.Ala79Thr" "Germline" "" "" "0" "" "" "g.21971167C>T" "" "benign" "" "0000178962" "0" "55" "9" "21971164" "21971164" "subst" "0" "00006" "CDKN2A_000065" "g.21971164A>G" "" "{PMID:Goldstein 2007:16905682}" "" "" "" "Germline" "" "" "0" "" "" "g.21971165A>G" "" "VUS" "" "0000178963" "0" "55" "9" "21971160" "21971160" "subst" "2.85605E-5" "00006" "CDKN2A_000066" "g.21971160G>A" "" "{PMID:Stratigos 2006:16374456}" "" "" "" "Germline" "" "" "0" "" "" "g.21971161G>A" "" "VUS" "" "0000178964" "0" "55" "9" "21974795" "21974818" "del" "0.000142743" "00006" "CDKN2A_000001" "g.21974795_21974818del" "" "{PMID:Bishop 2002:12072543}" "" "c.8_33del24" "This deletion causes the loss of 8 residues.\r\nVariant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.21974796_21974819del" "" "VUS" "" "0000178965" "0" "90" "9" "21971159" "21971159" "subst" "4.77683E-6" "00006" "CDKN2A_000067" "g.21971159C>T" "" "{PMID:Kannengieser 2003:14506702}" "" "" "alters both p16 and p14ARF function functionally {PMID:Rizos 2001:11518711}; Protein_p14ARF: p.Arg81Gln" "Germline" "" "" "0" "" "" "g.21971160C>T" "" "pathogenic" "" "0000178966" "0" "55" "9" "21971159" "21971159" "subst" "4.77683E-6" "00006" "CDKN2A_000068" "g.21971159C>G" "" "{PMID:Newton Bishop 1999:10390011}" "" "" "" "Germline" "" "" "0" "" "" "g.21971160C>G" "" "VUS" "" "0000178967" "0" "55" "9" "21971147" "21971161" "del" "0" "00006" "CDKN2A_000070" "g.21971147_21971161del" "" "{PMID:Chaudru 2004:15150307}" "" "199del15, del67-71" "15bps deletion, inframe" "Germline" "" "" "0" "" "" "g.21971148_21971162del" "" "VUS" "" "0000178968" "0" "90" "9" "21971157" "21971157" "del" "0" "00006" "CDKN2A_000071" "g.21971157del" "" "{PMID:Grammatico 2001:11595880}" "" "" "STOP codon 77 positions downstream; chimeric p14ARF-p16 protein" "Germline" "" "" "0" "" "" "g.21971158del" "" "pathogenic" "" "0000178969" "0" "55" "9" "21971156" "21971156" "subst" "0" "01540" "CDKN2A_000072" "g.21971156C>G" "" "submitted Weiss 2007" "" "" "" "Germline" "" "" "0" "" "" "g.21971157C>G" "" "VUS" "" "0000178970" "0" "57" "9" "21971156" "21971156" "subst" "0" "01540" "CDKN2A_000072" "g.21971156C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21971157C>G" "" "VUS" "" "0000178971" "0" "90" "9" "21971155" "21971156" "" "0" "00006" "CDKN2A_000073" "g.21971155_21971156delinsAA" "" "{PMID:Souffir 1998:9425228}" "" "G202C203>TT" "" "Germline" "" "" "0" "" "" "g.21971156_21971157delinsAA" "" "pathogenic" "" "0000178972" "0" "55" "9" "21971155" "21971155" "subst" "0" "00006" "CDKN2A_000074" "g.21971155G>A" "" "{PMID:FitzGerald 1996:8710906}" "" "" "Variant absent in brother who is also affected with melanoma + 2 silent p16 variants found (c.267C>A and c.339G>A) (FitzGerald 1996). Detected in PC tumor as well as normal DNA, not detected in 100 normal controls (Gerdes 2000).; Protein_p14ARF:" "Germline" "" "" "0" "" "" "g.21971156G>A" "" "VUS" "" "0000178973" "0" "55" "9" "21971155" "21971155" "subst" "0" "00006" "CDKN2A_000074" "g.21971155G>A" "" "" "" "" "Variant absent in brother who is also affected with melanoma + 2 silent p16 variants found (c.267C>A and c.339G>A) (FitzGerald 1996). Detected in PC tumor as well as normal DNA, not detected in 100 normal controls (Gerdes 2000).; Protein_p14ARF:" "Germline" "" "" "0" "" "" "g.21971156G>A" "" "VUS" "" "0000178974" "0" "55" "9" "21971155" "21971155" "subst" "0" "00006" "CDKN2A_000074" "g.21971155G>A" "" "" "" "" "Variant absent in brother who is also affected with melanoma + 2 silent p16 variants found (c.267C>A and c.339G>A) (FitzGerald 1996). Detected in PC tumor as well as normal DNA, not detected in 100 normal controls (Gerdes 2000).; Protein_p14ARF:" "Germline" "" "" "0" "" "" "g.21971156G>A" "" "VUS" "" "0000178975" "0" "55" "9" "21974795" "21974818" "dup" "8.65112E-6" "00006" "CDKN2A_000002" "g.21974795_21974818dup" "" "{PMID:Monzon 1998:9516223}" "" "" "This duplication causes the duplication of 8 residue(s).\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.21974796_21974819dup" "" "VUS" "" "0000178976" "0" "90" "9" "21971153" "21971153" "subst" "0" "00006" "CDKN2A_000064" "g.21971153C>A" "" "{PMID:Lamperska 2002:12362978}" "" "" "" "Germline" "" "" "0" "" "" "g.21971154C>A" "" "pathogenic" "" "0000178977" "0" "55" "9" "21971146" "21971146" "subst" "0" "00006" "CDKN2A_000076" "g.21971146T>C" "" "{PMID:Ruas 1998:9823374}" "" "" "" "Germline" "" "" "0" "" "" "g.21971147T>C" "" "VUS" "" "0000178978" "0" "55" "9" "21971146" "21971146" "subst" "0" "00006" "CDKN2A_000077" "g.21971146T>A" "" "{PMID:Fargnoli 1998:9856841}" "" "" "" "Germline" "" "" "0" "" "" "g.21971147T>A" "" "VUS" "" "0000178979" "0" "55" "9" "21971145" "21971145" "subst" "0" "00006" "CDKN2A_000078" "g.21971145G>T" "" "{PMID:Souffir 1998:9425228}" "" "" "" "Germline" "" "" "0" "" "" "g.21971146G>T" "" "VUS" "" "0000178980" "0" "55" "9" "21971122" "21971140" "del" "0" "00006" "CDKN2A_000079" "g.21971122_21971140del" "" "{PMID:Gruis 1995a:7640518}" "" "p16 Leiden" "" "Germline" "" "" "0" "" "" "g.21971123_21971141del" "" "VUS" "" "0000178981" "0" "99" "9" "21971122" "21971140" "del" "0" "00657" "CDKN2A_000079" "g.21971122_21971140del" "" "" "" "p16 Leiden" "" "Germline" "" "" "0" "" "" "g.21971123_21971141del" "" "pathogenic" "" "0000178982" "0" "55" "9" "21971131" "21971132" "ins" "0" "00006" "CDKN2A_000080" "g.21971131_21971132insA" "" "{PMID:Iwato 2000:10786670}" "" "" "" "Germline" "" "" "0" "" "" "g.21971132_21971133insA" "" "VUS" "" "0000178983" "0" "55" "9" "21971107" "21971120" "del" "0" "00006" "CDKN2A_000081" "g.21971107_21971120del" "" "{PMID:Bishop 2002:12072543}" "" "p.1-80p16:100-133p14" "" "Germline" "" "" "0" "" "" "g.21971108_21971121del" "" "VUS" "" "0000178984" "0" "90" "9" "21971117" "21971117" "subst" "0" "00006" "CDKN2A_000082" "g.21971117G>T" "" "{PMID:Monnerat 2007:17624602}" "" "" "" "Germline" "" "" "0" "" "" "g.21971118G>T" "" "pathogenic" "" "0000178985" "0" "55" "9" "21971116" "21971116" "subst" "0" "00006" "CDKN2A_000083" "g.21971116G>C" "" "{PMID:Helsing 2008:18023021}" "" "" "" "Germline" "" "" "0" "" "" "g.21971117G>C" "" "VUS" "" "0000179055" "0" "55" "9" "21971111" "21971111" "subst" "0" "00006" "CDKN2A_000084" "g.21971111G>A" "" "{PMID:Orlow 2007:17218939}" "" "" "" "Germline" "" "" "0" "" "" "g.21971112G>A" "" "VUS" "" "0000179056" "0" "55" "9" "21971109" "21971109" "subst" "0" "00006" "CDKN2A_000086" "g.21971109G>T" "" "{PMID:Orlow 2007:17218939}" "" "" "" "Germline" "" "" "0" "" "" "g.21971110G>T" "" "VUS" "" "0000179057" "0" "10" "9" "21971105" "21971105" "subst" "0" "00006" "CDKN2A_000088" "g.21971105C>T" "" "{PMID:Ruas 1998:9823374}" "" "" "" "Germline" "" "" "0" "" "" "g.21971106C>T" "" "benign" "" "0000179058" "0" "55" "9" "21971099" "21971099" "subst" "8.72265E-6" "00006" "CDKN2A_000090" "g.21971099G>A" "" "{PMID:Helsing 2008:18023021}" "" "" "another mutation (R87P) described and proven to fail to inhibit the cyclin complex {PMID:Hussussian 1994:7987387}; Protein_p14ARF: p.Pro101Leu" "Germline" "" "" "0" "" "" "g.21971100G>A" "" "VUS" "" "0000179059" "0" "90" "9" "21971098" "21971098" "subst" "0" "00006" "CDKN2A_000091" "g.21971098C>G" "" "{PMID:Hussussian 1994:7987387}" "" "" "" "Germline" "" "" "0" "" "" "g.21971099C>G" "" "pathogenic" "" "0000179060" "0" "55" "9" "21971098" "21971098" "del" "0" "00006" "CDKN2A_000092" "g.21971098del" "" "{PMID:Newton Bishop 1999:10390011}" "" "" "The new reading frame ends in a STOP codon 57 positions downstream.; chimeric p14ARF-p16 protein" "Germline" "" "" "0" "" "" "g.21971099del" "" "VUS" "" "0000179061" "0" "10" "9" "21971091" "21971091" "subst" "0" "00006" "CDKN2A_000093" "g.21971091G>T" "" "{PMID:Ruas 1998:9823374}" "" "p16 codon 98" "" "Germline" "" "" "0" "" "" "g.21971092G>T" "" "benign" "" "0000179062" "0" "55" "9" "21971068" "21971068" "subst" "0" "00006" "CDKN2A_000100" "g.21971068A>G" "" "{PMID:Ruas 1998:9823374}" "" "p14ARF P113P" "" "Germline" "" "" "0" "" "" "g.21971069A>G" "" "VUS" "" "0000179063" "0" "55" "9" "21971063" "21971063" "subst" "0" "00006" "CDKN2A_000101" "g.21971063G>A" "" "{PMID:Orlow 2007:17218939}" "" "p14ARF Pro154Leu" "rs34886500; Protein_p14ARF: p.Pro113Leu" "Germline" "" "" "0" "" "" "g.21971064G>A" "" "VUS" "" "0000179064" "0" "55" "9" "21971062" "21971062" "subst" "0" "00006" "CDKN2A_000102" "g.21971062C>G" "" "{PMID:Ruas 1998:9823374}" "" "" "" "Germline" "" "" "0" "" "" "g.21971063C>G" "" "VUS" "" "0000179065" "0" "55" "9" "21971052" "21971052" "subst" "0" "00006" "CDKN2A_000107" "g.21971052C>T" "" "{PMID:Orlow 2007:17218939}" "" "p14ARF Ala158Thr" "" "Germline" "" "" "0" "" "" "g.21971053C>T" "" "VUS" "" "0000179066" "0" "90" "9" "21971053" "21971054" "del" "0" "00006" "CDKN2A_000108" "g.21971053_21971054del" "" "{PMID:Goldstein 2007:16905682}" "" "" "" "Germline" "" "" "0" "" "" "g.21971054_21971055del" "" "pathogenic" "" "0000179067" "0" "55" "9" "21971043" "21971048" "del" "0" "00006" "CDKN2A_000109" "g.21971043_21971048del" "" "{PMID:Ruas 1998:9823374}" "" "Asp96_Leu97del" "Inframe deletion; causes the loss of 2 residues.; Protein_p14ARF: p.Ala118_Gly119delinsGly" "Germline" "" "" "0" "" "" "g.21971044_21971049del" "" "VUS" "" "0000179068" "0" "53" "9" "21971040" "21971040" "subst" "0.000219659" "00006" "CDKN2A_000111" "g.21971040C>T" "" "{PMID:Begg 2005:16234564}" "" "" "" "Germline" "" "" "0" "" "" "g.21971041C>T" "" "VUS" "" "0000179069" "0" "90" "9" "21974783" "21974783" "subst" "0" "00006" "CDKN2A_000005" "g.21974783C>T" "" "{PMID:Bishop 2002:12072543}" "" "" "Nonsense substitution." "Germline" "" "" "0" "" "" "g.21974784C>T" "" "pathogenic" "" "0000179070" "0" "55" "9" "21971039" "21971039" "subst" "0" "00006" "CDKN2A_000112" "g.21971039G>A" "" "{PMID:Ruas 1998:9823374}" "" "" "" "Germline" "" "" "0" "" "" "g.21971040G>A" "" "VUS" "" "0000179071" "0" "55" "9" "21971036" "21971036" "subst" "0" "00006" "CDKN2A_000113" "g.21971036C>T" "" "{PMID:Bishop 2002:12072543}" "" "" "Found together with patient carrying the p16 Leiden pathogenic mutation (unpublished results).; Protein_p14ARF: p.Arg122Gln" "Germline" "" "" "0" "" "" "g.21971037C>T" "" "VUS" "" "0000179072" "0" "90" "9" "21971021" "21971023" "dup" "0" "00006" "CDKN2A_000115" "g.21971021_21971023dup" "" "{PMID:Platz 1997:9168184}" "" "Ins R113" "Founder mutation in Sweden.; Protein_p14ARF: p.127_128insSer\r\nVariant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.21971022_21971024dup" "" "pathogenic" "" "0000179073" "0" "55" "9" "21971024" "21971024" "subst" "0" "00006" "CDKN2A_000116" "g.21971024G>C" "" "{PMID:Orlow 2007:17218939}" "" "" "" "Germline" "" "" "0" "" "" "g.21971025G>C" "" "VUS" "" "0000179074" "0" "10" "9" "21971019" "21971019" "subst" "0" "00006" "CDKN2A_000118" "g.21971019C>T" "" "{PMID:Ruas 1998:9823374}" "" "" "Found in tandem with Pro114Ser ({PMID:Kannengiesser 2007:17492760}); Protein_p14ARF: p.Ala128Thr" "Germline" "" "" "0" "" "" "g.21971020C>T" "" "benign" "" "0000179075" "0" "55" "9" "21971018" "21971018" "subst" "0" "00006" "CDKN2A_000119" "g.21971018G>A" "" "{PMID:Kannengiesser 2007:17492760}" "" "" "" "Germline" "" "" "0" "" "" "g.21971019G>A" "" "VUS" "" "0000179076" "0" "55" "9" "21971006" "21971006" "subst" "0" "00006" "CDKN2A_000123" "g.21971006C>T" "" "{PMID:Harland 1997:9328469}" "" "" "" "Germline" "" "" "0" "" "" "g.21971007C>T" "" "VUS" "" "0000179077" "0" "90" "9" "21971001" "21971001" "del" "0" "00006" "CDKN2A_000125" "g.21971001del" "" "{PMID:Ruiz 1999:10874641}" "" "The new reading frame ends in a STOP codon 25 positions downstream." "" "Germline" "" "" "0" "" "" "g.21971002del" "" "pathogenic" "" "0000179078" "0" "55" "9" "21970988" "21970988" "subst" "0.00011696" "00006" "CDKN2A_000128" "g.21970988G>A" "" "{PMID:Orlow 2007:17218939}" "" "" "rs34170727" "Germline" "" "" "0" "" "" "g.21970989G>A" "" "VUS" "" "0000179079" "0" "55" "9" "21970985" "21970985" "subst" "0.000104324" "00006" "CDKN2A_000129" "g.21970985C>G" "" "{PMID:Bishop 2002:12072543}" "" "" "" "Germline" "" "" "0" "" "" "g.21970986C>G" "" "VUS" "" "0000179080" "0" "90" "9" "21974781" "21974781" "del" "0" "00006" "CDKN2A_000007" "g.21974781del" "" "{PMID:Goldstein 2007:16905682}" "" "" "The new reading frame ends in a STOP codon 9 positions downstream." "Germline" "" "" "0" "" "" "g.21974782del" "" "pathogenic" "" "0000179081" "0" "55" "9" "21970979" "21970979" "subst" "4.16386E-6" "00006" "CDKN2A_000131" "g.21970979C>G" "" "{PMID:Ruas 1999:10498896}" "" "" "" "Germline" "" "" "0" "" "" "g.21970980C>G" "" "VUS" "" "0000179082" "0" "55" "9" "21970974" "21970974" "subst" "0.000108012" "00006" "CDKN2A_000133" "g.21970974C>T" "" "{PMID:Orlow 2007:17218939}" "" "" "" "Germline" "" "" "0" "" "" "g.21970975C>T" "" "VUS" "" "0000179083" "0" "55" "9" "21974780" "21974780" "subst" "0" "00006" "CDKN2A_000008" "g.21974780A>G" "" "{PMID:Ruas 1998:9823374}" "" "c.47T>G" "" "Germline" "" "" "0" "" "" "g.21974781A>G" "" "VUS" "" "0000179084" "0" "55" "9" "21970916" "21970916" "subst" "0.0208602" "00006" "CDKN2A_000140" "g.21970916C>T" "" "{PMID:Fargnoli 1998:9856841}" "" "482G>A (Bartsch 2002)" "rs3731249" "Germline" "" "" "0" "" "" "g.21970917C>T" "" "VUS" "" "0000179085" "0" "90" "9" "21970901" "21970901" "subst" "0" "00006" "CDKN2A_000141" "g.21970901C>A" "" "{PMID:Goldstein 2007:16905682}" "" "451G>T, Asp145Cys (Moskaluk 1998)" "lacks 24 amino acids encoded by exon 2 and suffers a frameshift in exon 3 ({PMID:Loo 2003:14508519})" "Germline" "" "" "0" "" "" "g.21970902C>A" "" "pathogenic" "" "0000179086" "0" "90" "9" "21970900" "21970900" "subst" "0" "00006" "CDKN2A_000142" "g.21970900C>A" "" "{PMID:Goldstein 2007:16905682}" "" "" "lacks 24 amino acids encoded by exon 2 and suffers a frameshift in exon 3 (Loo 2003)" "Germline" "" "" "0" "" "" "g.21970901C>A" "" "pathogenic" "" "0000179087" "0" "90" "9" "21968346" "21968346" "subst" "0" "00006" "CDKN2A_000149" "g.21968346T>C" "" "{PMID:Harland 2005b:15761864}" "" "" "Creates a false GT splice donor site 105 bases 5\' of exon 3 and results in aberrant splicing (Harland 2001)" "Germline" "" "" "0" "" "" "g.21968347T>C" "" "pathogenic" "" "0000179088" "0" "55" "9" "21974780" "21974780" "subst" "0" "00006" "CDKN2A_000009" "g.21974780A>C" "" "{PMID:Goldstein 2007:16905682}" "" "L16P" "" "Germline" "" "" "0" "" "" "g.21974781A>C" "" "VUS" "" "0000179089" "0" "10" "9" "21968199" "21968199" "subst" "0" "00006" "CDKN2A_000151" "g.21968199G>C" "" "{PMID:Goldstein 2008:18178632}" "" "500C>G" "rs11515\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.21968200G>C" "" "benign" "" "0000179090" "0" "90" "9" "21974774" "21974779" "dup" "0" "00006" "CDKN2A_000010" "g.21974774_21974779dup" "" "{PMID:Ruas 1998:9823374}" "" "" "This duplication causes the duplication of 2 residue(s): TA." "Germline" "" "" "0" "" "" "g.21974775_21974780dup" "" "pathogenic" "" "0000179091" "0" "55" "9" "21974760" "21974760" "subst" "0" "00006" "CDKN2A_000011" "g.21974760C>G" "" "{PMID:Goldstein 2007:16905682}" "" "" "" "Germline" "" "" "0" "" "" "g.21974761C>G" "" "VUS" "" "0000179092" "0" "55" "9" "21974759" "21974759" "subst" "0" "00006" "CDKN2A_000014" "g.21974759C>T" "" "{PMID:Ruas 1998:9823374}" "" "" "" "Germline" "" "" "0" "" "" "g.21974760C>T" "" "VUS" "" "0000179093" "0" "55" "9" "21974756" "21974756" "subst" "1.70923E-5" "00006" "CDKN2A_000015" "g.21974756C>G" "" "{PMID:Soufir 1998:9425228}" "" "" "" "Germline" "" "" "0" "" "" "g.21974757C>G" "" "VUS" "" "0000179094" "0" "90" "9" "21974748" "21974748" "subst" "0" "00006" "CDKN2A_000018" "g.21974748C>A" "" "{PMID:Helsing 2008:18023021}" "" "" "" "Germline" "" "" "0" "" "" "g.21974749C>A" "" "pathogenic" "" "0000179095" "0" "90" "9" "21974741" "21974741" "del" "0" "00006" "CDKN2A_000021" "g.21974741del" "" "{PMID:Harland 1997:9328469}" "" "" "The new reading frame ends in a STOP codon 22 positions downstream." "Germline" "" "" "0" "" "" "g.21974742del" "" "pathogenic" "" "0000179096" "0" "55" "9" "21974732" "21974732" "subst" "0" "00006" "CDKN2A_000022" "g.21974732A>G" "" "{PMID:Ruas 1998:9823374}" "" "" "" "Germline" "" "" "0" "" "" "g.21974733A>G" "" "VUS" "" "0000179097" "0" "90" "9" "21974723" "21974723" "subst" "1.2435E-5" "00006" "CDKN2A_000024" "g.21974723C>G" "" "{PMID:Walker 1995:8595405}" "" "" "" "Germline" "" "" "0" "" "" "g.21974724C>G" "" "pathogenic" "" "0000179098" "0" "55" "9" "21974721" "21974721" "subst" "0" "00006" "CDKN2A_000026" "g.21974721C>G" "" "{PMID:Bishop 2002:12072543}" "" "" "" "Germline" "" "" "0" "" "" "g.21974722C>G" "" "VUS" "" "0000179099" "0" "10" "9" "21974704" "21974704" "subst" "4.14917E-6" "00006" "CDKN2A_000031" "g.21974704C>T" "" "{PMID:Orlow 2007:17218939}" "" "" "p.Pro41" "Germline" "" "" "0" "" "" "g.21974705C>T" "" "benign" "" "0000179100" "0" "90" "9" "21974696" "21974696" "dup" "0" "00006" "CDKN2A_000032" "g.21974696dup" "" "{PMID:Orlow 2007:17218939}" "" "" "codon Tyr44 is replaced by a STOP codon." "Germline" "" "" "0" "" "" "g.21974697dup" "" "pathogenic" "" "0000179101" "0" "90" "9" "21974695" "21974695" "subst" "0" "00006" "CDKN2A_000035" "g.21974695G>T" "" "{PMID:Orlow 2007:17218939}" "" "" "The reading frame is interrupted by a premature STOP codon." "Germline" "" "" "0" "" "" "g.21974696G>T" "" "pathogenic" "" "0000179102" "0" "70" "9" "21974685" "21974685" "subst" "0" "00006" "CDKN2A_000037" "g.21974685G>T" "" "{PMID:Moore 2000:11058911}" "" "" "" "Germline" "" "" "0" "" "" "g.21974686G>T" "" "likely pathogenic" "" "0000179103" "0" "55" "9" "21974684" "21974684" "subst" "0" "00006" "CDKN2A_000038" "g.21974684G>A" "" "{PMID:Ruas 1999:10498896}" "" "" "" "Germline" "" "" "0" "" "" "g.21974685G>A" "" "VUS" "" "0000179104" "0" "55" "9" "21974681" "21974681" "subst" "0.000617865" "00006" "CDKN2A_000041" "g.21974681A>G" "" "{PMID:Hussussian 1994:7987387}" "" "" "" "Germline" "" "" "0" "" "" "g.21974682A>G" "" "VUS" "" "0000179105" "0" "90" "9" "21974681" "21974681" "subst" "0" "00006" "CDKN2A_000040" "g.21974681A>C" "" "{PMID:Ruas 1998:9823374}" "" "" "" "Germline" "" "" "0" "" "" "g.21974682A>C" "" "pathogenic" "" "0000179106" "0" "55" "9" "21974678" "21974678" "subst" "0" "00006" "CDKN2A_000043" "g.21974678T>G" "" "{PMID:Loo 2003:14508519}" "" "" "Variant occurs in splice site." "Germline" "" "" "0" "" "" "g.21974679T>G" "" "VUS" "" "0000179107" "0" "55" "9" "21974678" "21974678" "subst" "4.08951E-6" "00006" "CDKN2A_000044" "g.21974678T>C" "" "{PMID:Ruas 1998:9823374}" "" "" "Variant occurs in splice site." "Germline" "" "" "0" "" "" "g.21974679T>C" "" "VUS" "" "0000179108" "0" "90" "9" "21971199" "21971199" "subst" "0" "00006" "CDKN2A_000049" "g.21971199C>T" "" "{PMID:Orlow 2007:17218939}" "" "" "" "Germline" "" "" "0" "" "" "g.21971200C>T" "" "pathogenic" "" "0000179109" "0" "90" "9" "21971199" "21971199" "subst" "9.16893E-6" "00006" "CDKN2A_000048" "g.21971199C>G" "" "{PMID:FitzGerald 1996:8710906}" "" "" "" "Germline" "" "" "0" "" "" "g.21971200C>G" "" "pathogenic" "" "0000179110" "0" "90" "9" "21971136" "21971193" "del" "0" "00006" "CDKN2A_000051" "g.21971136_21971193del" "" "{PMID:Ruas 1998:9823374}" "" "" "Chimeric p14ARF-p16 protein contains the 82 C-terminal amino acids of p16 substituted for the terminal 62 amino acids of p14ARF ({PMID:FitzGerald 1996:8710906}); chimeric p14ARF-p16 protein" "Germline" "" "" "0" "" "" "g.21971137_21971194del" "" "pathogenic" "" "0000179111" "0" "55" "9" "21971191" "21971191" "subst" "0" "00006" "CDKN2A_000053" "g.21971191C>A" "" "{PMID:Ruas 1998:9823374}" "" "" "homozygous patient ({PMID:Kannengiesser 2007:17492760}); Protein_p14ARF: p.Gln70His" "Germline" "" "" "0" "" "" "g.21971192C>A" "" "VUS" "" "0000179112" "0" "90" "9" "21971163" "21971193" "del" "0" "00006" "CDKN2A_000052" "g.21971163_21971193del" "" "{PMID:Goldstein 2007:16905682}" "" "c.167_197del31" "" "Germline" "" "" "0" "" "" "g.21971164_21971194del" "" "pathogenic" "" "0000179113" "0" "55" "9" "21971188" "21971188" "subst" "9.212E-5" "00006" "CDKN2A_000054" "g.21971188G>A" "" "{PMID:Ruas 1998:9823374}" "" "" "reported for p14ARF as R112R by {PMID:Goldstein 2008:18178632}; Protein_p14ARF: p.= (Arg71)" "Germline" "" "" "0" "" "" "g.21971189G>A" "" "VUS" "" "0000179114" "0" "90" "9" "21971186" "21971186" "subst" "0" "00006" "CDKN2A_000056" "g.21971186G>A" "" "{PMID:Ranade 1995:7647780}" "" "" "" "Germline" "" "" "0" "" "" "g.21971187G>A" "" "pathogenic" "" "0000179115" "0" "55" "9" "21971184" "21971184" "subst" "0.000693584" "00006" "CDKN2A_000057" "g.21971184T>G" "" "{PMID:Orlow 2007:17218939}" "" "" "" "Germline" "" "" "0" "" "" "g.21971185T>G" "" "VUS" "" "0000179116" "0" "55" "9" "21971182" "21971182" "subst" "4.63255E-6" "00006" "CDKN2A_000058" "g.21971182A>C" "" "{PMID:Yakobson 2003:12700603}" "" "" "recurrent mutation in 4 different families (Israel, French 2x, Spanish) ({PMID:Yakobson 2003:12700603}); Protein_p14ARF: p.Ser73Arg" "Germline" "" "" "0" "" "" "g.21971183A>C" "" "VUS" "" "0000179117" "0" "55" "9" "21971179" "21971179" "subst" "0" "00006" "CDKN2A_000059" "g.21971179G>A" "" "{PMID:Orlow 2007:17218939}" "" "" "" "Germline" "" "" "0" "" "" "g.21971180G>A" "" "VUS" "" "0000179118" "0" "90" "9" "21971157" "21971180" "del" "0" "00006" "CDKN2A_000060" "g.21971157_21971180del" "" "{PMID:Hashemi 2002:12175554}" "" "" "" "Germline" "" "" "0" "" "" "g.21971158_21971181del" "" "pathogenic" "" "0000179119" "0" "55" "9" "21971173" "21971173" "subst" "0" "00006" "CDKN2A_000061" "g.21971173A>G" "" "{PMID:Bishop 2002:12072543}" "" "" "" "Germline" "" "" "0" "" "" "g.21971174A>G" "" "VUS" "" "0000179120" "0" "10" "9" "21971166" "21971166" "subst" "0" "00006" "CDKN2A_000063" "g.21971166C>T" "" "{PMID:Ruas 1998:9823374}" "" "" "319C>T, Arg107Cys variant found in same patient; Protein_p14ARF: p.Ala79Thr" "Germline" "" "" "0" "" "" "g.21971167C>T" "" "benign" "" "0000179121" "0" "55" "9" "21971164" "21971164" "subst" "0" "00006" "CDKN2A_000065" "g.21971164A>G" "" "{PMID:Landi 2004:15235029}" "" "" "" "Germline" "" "" "0" "" "" "g.21971165A>G" "" "VUS" "" "0000179122" "0" "55" "9" "21974795" "21974818" "del" "0.000142743" "00006" "CDKN2A_000001" "g.21974795_21974818del" "" "{PMID:Aitken 1999:10070944}" "" "c.8_33del24" "This deletion causes the loss of 8 residues.\r\nVariant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.21974796_21974819del" "" "VUS" "" "0000179123" "0" "90" "9" "21971159" "21971159" "subst" "4.77683E-6" "00006" "CDKN2A_000067" "g.21971159C>T" "" "{PMID:Bishop 2002:12072543}, {PMID:Goldstein 2007:16905682}" "" "" "alters both p16 and p14ARF function functionally {PMID:Rizos 2001:11518711}; Protein_p14ARF: p.Arg81Gln" "Germline" "" "" "0" "" "" "g.21971160C>T" "" "pathogenic" "" "0000179124" "0" "55" "9" "21971159" "21971159" "subst" "4.77683E-6" "00006" "CDKN2A_000068" "g.21971159C>G" "" "{PMID:Goldstein 2007:16905682}" "" "" "" "Germline" "" "" "0" "" "" "g.21971160C>G" "" "VUS" "" "0000179125" "0" "90" "9" "21971155" "21971156" "" "0" "00006" "CDKN2A_000073" "g.21971155_21971156delinsAA" "" "{PMID:Ruas 1998:9823374}" "" "G202C203>TT" "" "Germline" "" "" "0" "" "" "g.21971156_21971157delinsAA" "" "pathogenic" "" "0000179126" "0" "55" "9" "21971155" "21971155" "subst" "0" "00006" "CDKN2A_000074" "g.21971155G>A" "" "{PMID:Ruas 1998:9823374}" "" "" "Variant absent in brother who is also affected with melanoma + 2 silent p16 variants found (c.267C>A and c.339G>A) (FitzGerald 1996). Detected in PC tumor as well as normal DNA, not detected in 100 normal controls (Gerdes 2000).; Protein_p14ARF:" "Germline" "" "" "0" "" "" "g.21971156G>A" "" "VUS" "" "0000179127" "0" "55" "9" "21974795" "21974818" "dup" "8.65112E-6" "00006" "CDKN2A_000002" "g.21974795_21974818dup" "" "{PMID:Harland 1997:9328469}" "" "" "This duplication causes the duplication of 8 residue(s).\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.21974796_21974819dup" "" "VUS" "" "0000179128" "0" "55" "9" "21971146" "21971146" "subst" "0" "00006" "CDKN2A_000076" "g.21971146T>C" "" "{PMID:Della Torre 2001:11556834}" "" "" "" "Germline" "" "" "0" "" "" "g.21971147T>C" "" "VUS" "" "0000179129" "0" "55" "9" "21971145" "21971145" "subst" "0" "00006" "CDKN2A_000078" "g.21971145G>T" "" "{PMID:Ruas 1998:9823374}" "" "" "" "Germline" "" "" "0" "" "" "g.21971146G>T" "" "VUS" "" "0000179130" "0" "55" "9" "21971122" "21971140" "del" "0" "00006" "CDKN2A_000079" "g.21971122_21971140del" "" "{PMID:Gruis 1995b:7670475}" "" "p16 Leiden" "" "Germline" "" "" "0" "" "" "g.21971123_21971141del" "" "VUS" "" "0000179131" "0" "55" "9" "21971107" "21971120" "del" "0" "00006" "CDKN2A_000081" "g.21971107_21971120del" "" "{PMID:FitzGerald 1996:8710906}" "" "p.1-80p16:100-133p14" "" "Germline" "" "" "0" "" "" "g.21971108_21971121del" "" "VUS" "" "0000179132" "0" "90" "9" "21974774" "21974779" "dup" "0" "00006" "CDKN2A_000010" "g.21974774_21974779dup" "" "{PMID:Auroy 2001:11579459}" "" "" "This duplication causes the duplication of 2 residue(s): TA." "Germline" "" "" "0" "" "" "g.21974775_21974780dup" "" "pathogenic" "" "0000179133" "0" "55" "9" "21974756" "21974756" "subst" "1.70923E-5" "00006" "CDKN2A_000015" "g.21974756C>G" "" "{PMID:Becker 2001:11595726}" "" "" "" "Germline" "" "" "0" "" "" "g.21974757C>G" "" "VUS" "" "0000179134" "0" "55" "9" "21970985" "21970985" "subst" "0.000104324" "00006" "CDKN2A_000129" "g.21970985C>G" "" "{PMID:Begg 2005:16234564}" "" "" "" "Germline" "" "" "0" "" "" "g.21970986C>G" "" "VUS" "" "0000179135" "0" "55" "9" "21970916" "21970916" "subst" "0.0208602" "00006" "CDKN2A_000140" "g.21970916C>T" "" "{PMID:Begg 2005:16234564}" "" "482G>A (Bartsch 2002)" "rs3731249" "Germline" "" "" "0" "" "" "g.21970917C>T" "" "VUS" "" "0000179136" "0" "55" "9" "21974780" "21974780" "subst" "0" "00006" "CDKN2A_000009" "g.21974780A>C" "" "{PMID:Begg 2005:16234564}" "" "L16P" "" "Germline" "" "" "0" "" "" "g.21974781A>C" "" "VUS" "" "0000179137" "0" "90" "9" "21974741" "21974741" "del" "0" "00006" "CDKN2A_000021" "g.21974741del" "" "{PMID:Begg 2005:16234564}" "" "" "The new reading frame ends in a STOP codon 22 positions downstream." "Germline" "" "" "0" "" "" "g.21974742del" "" "pathogenic" "" "0000179138" "0" "55" "9" "21974678" "21974678" "subst" "0" "00006" "CDKN2A_000043" "g.21974678T>G" "" "{PMID:Begg 2005:16234564}" "" "" "Variant occurs in splice site." "Germline" "" "" "0" "" "" "g.21974679T>G" "" "VUS" "" "0000179139" "0" "55" "9" "21971188" "21971188" "subst" "9.212E-5" "00006" "CDKN2A_000054" "g.21971188G>A" "" "{PMID:Begg 2005:16234564}" "" "" "reported for p14ARF as R112R by {PMID:Goldstein 2008:18178632}; Protein_p14ARF: p.= (Arg71)" "Germline" "" "" "0" "" "" "g.21971189G>A" "" "VUS" "" "0000179140" "0" "55" "9" "21971068" "21971068" "subst" "0" "00006" "CDKN2A_000100" "g.21971068A>G" "" "{PMID:Bishop 2002:12072543}" "" "p14ARF P113P" "" "Germline" "" "" "0" "" "" "g.21971069A>G" "" "VUS" "" "0000179141" "0" "90" "9" "21971021" "21971023" "dup" "0" "00006" "CDKN2A_000115" "g.21971021_21971023dup" "" "{PMID:Bishop 2002:12072543}" "" "Ins R113" "Founder mutation in Sweden.; Protein_p14ARF: p.127_128insSer\r\nVariant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.21971022_21971024dup" "" "pathogenic" "" "0000179142" "0" "55" "9" "21974780" "21974780" "subst" "0" "00006" "CDKN2A_000008" "g.21974780A>G" "" "{PMID:Bishop 2002:12072543}" "" "c.47T>G" "" "Germline" "" "" "0" "" "" "g.21974781A>G" "" "VUS" "" "0000179143" "0" "55" "9" "21974732" "21974732" "subst" "0" "00006" "CDKN2A_000022" "g.21974732A>G" "" "{PMID:Bishop 2002:12072543}" "" "" "" "Germline" "" "" "0" "" "" "g.21974733A>G" "" "VUS" "" "0000179144" "0" "55" "9" "21974684" "21974684" "subst" "0" "00006" "CDKN2A_000038" "g.21974684G>A" "" "{PMID:Bishop 2002:12072543}" "" "" "" "Germline" "" "" "0" "" "" "g.21974685G>A" "" "VUS" "" "0000179145" "0" "90" "9" "21974681" "21974681" "subst" "0" "00006" "CDKN2A_000040" "g.21974681A>C" "" "{PMID:Bishop 2002:12072543}" "" "" "" "Germline" "" "" "0" "" "" "g.21974682A>C" "" "pathogenic" "" "0000179146" "0" "55" "9" "21974678" "21974678" "subst" "4.08951E-6" "00006" "CDKN2A_000044" "g.21974678T>C" "" "{PMID:Bishop 2002:12072543}" "" "" "Variant occurs in splice site." "Germline" "" "" "0" "" "" "g.21974679T>C" "" "VUS" "" "0000179147" "0" "90" "9" "21971186" "21971186" "subst" "0" "00006" "CDKN2A_000056" "g.21971186G>A" "" "{PMID:Bishop 2002:12072543}" "" "" "" "Germline" "" "" "0" "" "" "g.21971187G>A" "" "pathogenic" "" "0000179148" "0" "90" "9" "21971155" "21971156" "" "0" "00006" "CDKN2A_000073" "g.21971155_21971156delinsAA" "" "{PMID:Bishop 2002:12072543}" "" "G202C203>TT" "" "Germline" "" "" "0" "" "" "g.21971156_21971157delinsAA" "" "pathogenic" "" "0000179149" "0" "55" "9" "21971145" "21971145" "subst" "0" "00006" "CDKN2A_000078" "g.21971145G>T" "" "{PMID:Bishop 2002:12072543}" "" "" "" "Germline" "" "" "0" "" "" "g.21971146G>T" "" "VUS" "" "0000179150" "0" "55" "9" "21974759" "21974759" "subst" "0" "00006" "CDKN2A_000014" "g.21974759C>T" "" "{PMID:Fargnoli 1998:9856841}" "" "" "" "Germline" "" "" "0" "" "" "g.21974760C>T" "" "VUS" "" "0000179151" "0" "90" "9" "21971199" "21971199" "subst" "9.16893E-6" "00006" "CDKN2A_000048" "g.21971199C>G" "" "{PMID:Flores 1997:9416844}" "" "" "" "Germline" "" "" "0" "" "" "g.21971200C>G" "" "pathogenic" "" "0000179152" "0" "55" "9" "21971155" "21971155" "subst" "0" "00006" "CDKN2A_000074" "g.21971155G>A" "" "{PMID:Gerdes 2000:11075991}" "" "" "Variant absent in brother who is also affected with melanoma + 2 silent p16 variants found (c.267C>A and c.339G>A) (FitzGerald 1996). Detected in PC tumor as well as normal DNA, not detected in 100 normal controls (Gerdes 2000).; Protein_p14ARF:" "Germline" "" "" "0" "" "" "g.21971156G>A" "" "VUS" "" "0000179153" "0" "55" "9" "21971062" "21971062" "subst" "0" "00006" "CDKN2A_000102" "g.21971062C>G" "" "{PMID:Goldstein 2007:16905682}" "" "" "" "Germline" "" "" "0" "" "" "g.21971063C>G" "" "VUS" "" "0000179154" "0" "90" "9" "21974783" "21974783" "subst" "0" "00006" "CDKN2A_000005" "g.21974783C>T" "" "{PMID:Goldstein 2007:16905682}" "" "" "Nonsense substitution." "Germline" "" "" "0" "" "" "g.21974784C>T" "" "pathogenic" "" "0000179155" "0" "55" "9" "21971006" "21971006" "subst" "0" "00006" "CDKN2A_000123" "g.21971006C>T" "" "{PMID:Goldstein 2007:16905682}" "" "" "" "Germline" "" "" "0" "" "" "g.21971007C>T" "" "VUS" "" "0000179156" "0" "90" "9" "21968346" "21968346" "subst" "0" "00006" "CDKN2A_000149" "g.21968346T>C" "" "{PMID:Goldstein 2007:16905682}" "" "" "Creates a false GT splice donor site 105 bases 5\' of exon 3 and results in aberrant splicing (Harland 2001)" "Germline" "" "" "0" "" "" "g.21968347T>C" "" "pathogenic" "" "0000179157" "0" "55" "9" "21974721" "21974721" "subst" "0" "00006" "CDKN2A_000026" "g.21974721C>G" "" "{PMID:Goldstein 2007:16905682}" "" "" "" "Germline" "" "" "0" "" "" "g.21974722C>G" "" "VUS" "" "0000179158" "0" "70" "9" "21974685" "21974685" "subst" "0" "00006" "CDKN2A_000037" "g.21974685G>T" "" "{PMID:Goldstein 2007:16905682}" "" "" "" "Germline" "" "" "0" "" "" "g.21974686G>T" "" "likely pathogenic" "" "0000179159" "0" "55" "9" "21971182" "21971182" "subst" "4.63255E-6" "00006" "CDKN2A_000058" "g.21971182A>C" "" "{PMID:Goldstein 2007:16905682}" "" "" "recurrent mutation in 4 different families (Israel, French 2x, Spanish) ({PMID:Yakobson 2003:12700603}); Protein_p14ARF: p.Ser73Arg" "Germline" "" "" "0" "" "" "g.21971183A>C" "" "VUS" "" "0000179160" "0" "55" "9" "21971107" "21971120" "del" "0" "00006" "CDKN2A_000081" "g.21971107_21971120del" "" "{PMID:Goldstein 2007:16905682}" "" "p.1-80p16:100-133p14" "" "Germline" "" "" "0" "" "" "g.21971108_21971121del" "" "VUS" "" "0000179161" "0" "55" "9" "21970979" "21970979" "subst" "4.16386E-6" "00006" "CDKN2A_000131" "g.21970979C>G" "" "{PMID:Helsing 2008:18023021}" "" "" "" "Germline" "" "" "0" "" "" "g.21970980C>G" "" "VUS" "" "0000179162" "0" "90" "9" "21971159" "21971159" "subst" "4.77683E-6" "00006" "CDKN2A_000067" "g.21971159C>T" "" "{PMID:Holland 1999:10398427}" "" "" "alters both p16 and p14ARF function functionally {PMID:Rizos 2001:11518711}; Protein_p14ARF: p.Arg81Gln" "Germline" "" "" "0" "" "" "g.21971160C>T" "" "pathogenic" "" "0000179163" "0" "10" "9" "21971019" "21971019" "subst" "0" "00006" "CDKN2A_000118" "g.21971019C>T" "" "{PMID:Kannengiesser 2007:17492760}" "" "" "Found in tandem with Pro114Ser ({PMID:Kannengiesser 2007:17492760}); Protein_p14ARF: p.Ala128Thr" "Germline" "" "" "0" "" "" "g.21971020C>T" "" "benign" "" "0000179164" "0" "55" "9" "21971159" "21971159" "subst" "4.77683E-6" "00006" "CDKN2A_000068" "g.21971159C>G" "" "{PMID:Lang 2005:16307646}" "" "G67R" "" "Germline" "" "" "0" "" "" "g.21971160C>G" "" "VUS" "" "0000179165" "0" "90" "9" "21970900" "21970900" "subst" "0" "00006" "CDKN2A_000142" "g.21970900C>A" "" "{PMID:MacKie 1998:9699728}" "" "" "lacks 24 amino acids encoded by exon 2 and suffers a frameshift in exon 3 (Loo 2003)" "Germline" "" "" "0" "" "" "g.21970901C>A" "" "pathogenic" "" "0000179166" "0" "90" "9" "21974696" "21974696" "dup" "0" "00006" "CDKN2A_000032" "g.21974696dup" "" "{PMID:MacKie 1998:9699728}" "" "" "codon Tyr44 is replaced by a STOP codon." "Germline" "" "" "0" "" "" "g.21974697dup" "" "pathogenic" "" "0000179167" "0" "90" "9" "21974695" "21974695" "subst" "0" "00006" "CDKN2A_000035" "g.21974695G>T" "" "{PMID:MacKie 1998:9699728}" "" "" "The reading frame is interrupted by a premature STOP codon." "Germline" "" "" "0" "" "" "g.21974696G>T" "" "pathogenic" "" "0000179168" "0" "55" "9" "21971146" "21971146" "subst" "0" "00006" "CDKN2A_000076" "g.21971146T>C" "" "{PMID:Mantelli 2002:11807902}" "" "" "" "Germline" "" "" "0" "" "" "g.21971147T>C" "" "VUS" "" "0000179169" "0" "55" "9" "21971191" "21971191" "subst" "0" "00006" "CDKN2A_000053" "g.21971191C>A" "" "{PMID:Monzon 1998:9516223}" "" "" "homozygous patient ({PMID:Kannengiesser 2007:17492760}); Protein_p14ARF: p.Gln70His" "Germline" "" "" "0" "" "" "g.21971192C>A" "" "VUS" "" "0000179170" "0" "90" "9" "21970901" "21970901" "subst" "0" "00006" "CDKN2A_000141" "g.21970901C>A" "" "{PMID:Moskaluk 1998:10627132}" "" "451G>T, Asp145Cys (Moskaluk 1998)" "lacks 24 amino acids encoded by exon 2 and suffers a frameshift in exon 3 ({PMID:Loo 2003:14508519})" "Germline" "" "" "0" "" "" "g.21970902C>A" "" "pathogenic" "" "0000179171" "0" "53" "9" "21971040" "21971040" "subst" "0.000219659" "00006" "CDKN2A_000111" "g.21971040C>T" "" "{PMID:Orlow 2007:17218939}" "" "" "" "Germline" "" "" "0" "" "" "g.21971041C>T" "" "VUS" "" "0000179172" "0" "55" "9" "21974760" "21974760" "subst" "0" "00006" "CDKN2A_000011" "g.21974760C>G" "" "{PMID:Orlow 2007:17218939}" "" "" "" "Germline" "" "" "0" "" "" "g.21974761C>G" "" "VUS" "" "0000179173" "0" "55" "9" "21971024" "21971024" "subst" "0" "00006" "CDKN2A_000116" "g.21971024G>C" "" "{PMID:Platz 1997:9168184}" "" "" "" "Germline" "" "" "0" "" "" "g.21971025G>C" "" "VUS" "" "0000179174" "0" "90" "9" "21971001" "21971001" "del" "0" "00006" "CDKN2A_000125" "g.21971001del" "" "{PMID:Puig 1997:9439668}" "" "The new reading frame ends in a STOP codon 25 positions downstream." "" "Germline" "" "" "0" "" "" "g.21971002del" "" "pathogenic" "" "0000179175" "0" "90" "9" "21971098" "21971098" "subst" "0" "00006" "CDKN2A_000091" "g.21971098C>G" "" "{PMID:Ranade 1995:7647780}" "" "" "" "Germline" "" "" "0" "" "" "g.21971099C>G" "" "pathogenic" "" "0000179176" "0" "90" "9" "21974723" "21974723" "subst" "1.2435E-5" "00006" "CDKN2A_000024" "g.21974723C>G" "" "{PMID:Ruas 1998:9823374}" "" "" "" "Germline" "" "" "0" "" "" "g.21974724C>G" "" "pathogenic" "" "0000179177" "0" "55" "9" "21974681" "21974681" "subst" "0.000617865" "00006" "CDKN2A_000041" "g.21974681A>G" "" "{PMID:Ruas 1998:9823374}" "" "" "" "Germline" "" "" "0" "" "" "g.21974682A>G" "" "VUS" "" "0000179178" "0" "55" "9" "21971173" "21971173" "subst" "0" "00006" "CDKN2A_000061" "g.21971173A>G" "" "{PMID:Ruas 1998:9823374}" "" "" "" "Germline" "" "" "0" "" "" "g.21971174A>G" "" "VUS" "" "0000179179" "0" "55" "9" "21971122" "21971140" "del" "0" "00006" "CDKN2A_000079" "g.21971122_21971140del" "" "{PMID:Ruas 1998:9823374}" "" "p16 Leiden" "" "Germline" "" "" "0" "" "" "g.21971123_21971141del" "" "VUS" "" "0000179180" "0" "55" "9" "21974795" "21974818" "del" "0.000142743" "00006" "CDKN2A_000001" "g.21974795_21974818del" "" "{PMID:Schraml 2001:11159196}" "" "c.8_33del24" "This deletion causes the loss of 8 residues.\r\nVariant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.21974796_21974819del" "" "VUS" "" "0000179181" "0" "90" "9" "21974781" "21974781" "del" "0" "00006" "CDKN2A_000007" "g.21974781del" "" "{PMID:Smith-Sorensen 1996:8723678}" "" "" "The new reading frame ends in a STOP codon 9 positions downstream." "Germline" "" "" "0" "" "" "g.21974782del" "" "pathogenic" "" "0000179182" "0" "55" "9" "21974795" "21974818" "dup" "8.65112E-6" "00006" "CDKN2A_000002" "g.21974795_21974818dup" "" "{PMID:Walker 1995:8595405}" "" "" "This duplication causes the duplication of 8 residue(s).\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.21974796_21974819dup" "" "VUS" "" "0000179183" "0" "55" "9" "21971036" "21971036" "subst" "0" "00006" "CDKN2A_000113" "g.21971036C>T" "" "Ruas M 1998" "" "" "Found together with patient carrying the p16 Leiden pathogenic mutation (unpublished results).; Protein_p14ARF: p.Arg122Gln" "Germline" "" "" "0" "" "" "g.21971037C>T" "" "VUS" "" "0000179184" "0" "55" "9" "21970974" "21970974" "subst" "0.000108012" "00006" "CDKN2A_000133" "g.21970974C>T" "" "submitted Weiss" "" "" "" "Germline" "" "" "0" "" "" "g.21970975C>T" "" "VUS" "" "0000179185" "0" "90" "9" "21971098" "21971098" "subst" "0" "00006" "CDKN2A_000091" "g.21971098C>G" "" "{PMID:Bishop 2002:12072543}" "" "" "" "Germline" "" "" "0" "" "" "g.21971099C>G" "" "pathogenic" "" "0000179186" "0" "55" "9" "21971024" "21971024" "subst" "0" "00006" "CDKN2A_000116" "g.21971024G>C" "" "{PMID:Bishop 2002:12072543}" "" "" "" "Germline" "" "" "0" "" "" "g.21971025G>C" "" "VUS" "" "0000179187" "0" "55" "9" "21974759" "21974759" "subst" "0" "00006" "CDKN2A_000014" "g.21974759C>T" "" "{PMID:Bishop 2002:12072543}" "" "" "" "Germline" "" "" "0" "" "" "g.21974760C>T" "" "VUS" "" "0000179188" "0" "55" "9" "21974756" "21974756" "subst" "1.70923E-5" "00006" "CDKN2A_000015" "g.21974756C>G" "" "{PMID:Bishop 2002:12072543}" "" "" "" "Germline" "" "" "0" "" "" "g.21974757C>G" "" "VUS" "" "0000179189" "0" "55" "9" "21971191" "21971191" "subst" "0" "00006" "CDKN2A_000053" "g.21971191C>A" "" "{PMID:Bishop 2002:12072543}" "" "" "homozygous patient ({PMID:Kannengiesser 2007:17492760}); Protein_p14ARF: p.Gln70His" "Germline" "" "" "0" "" "" "g.21971192C>A" "" "VUS" "" "0000179190" "0" "90" "9" "21974819" "21974842" "dup" "0" "00006" "CDKN2A_000002" "g.21974819_21974842dup" "" "{PMID:Eliason 2006:16397522}" "" "32ins24" "" "Germline" "yes" "" "0" "" "" "g.21974820_21974843dup" "" "VUS" "" "0000179191" "0" "55" "9" "21971068" "21971068" "subst" "0" "00006" "CDKN2A_000100" "g.21971068A>G" "" "{PMID:Goldstein 2007:16905682}" "" "p14ARF P113P" "" "Germline" "" "" "0" "" "" "g.21971069A>G" "" "VUS" "" "0000179192" "0" "90" "9" "21971021" "21971023" "dup" "0" "00006" "CDKN2A_000115" "g.21971021_21971023dup" "" "{PMID:Goldstein 2007:16905682}" "" "Ins R113" "Founder mutation in Sweden.; Protein_p14ARF: p.127_128insSer\r\nVariant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.21971022_21971024dup" "" "pathogenic" "" "0000179193" "0" "90" "9" "21974774" "21974779" "dup" "0" "00006" "CDKN2A_000010" "g.21974774_21974779dup" "" "{PMID:Goldstein 2007:16905682}" "" "" "This duplication causes the duplication of 2 residue(s): TA." "Germline" "" "" "0" "" "" "g.21974775_21974780dup" "" "pathogenic" "" "0000179194" "0" "55" "9" "21974684" "21974684" "subst" "0" "00006" "CDKN2A_000038" "g.21974684G>A" "" "{PMID:Goldstein 2007:16905682}" "" "" "" "Germline" "" "" "0" "" "" "g.21974685G>A" "" "VUS" "" "0000179195" "0" "90" "9" "21974681" "21974681" "subst" "0" "00006" "CDKN2A_000040" "g.21974681A>C" "" "{PMID:Goldstein 2007:16905682}" "" "" "" "Germline" "" "" "0" "" "" "g.21974682A>C" "" "pathogenic" "" "0000179196" "0" "55" "9" "21971173" "21971173" "subst" "0" "00006" "CDKN2A_000061" "g.21971173A>G" "" "{PMID:Goldstein 2007:16905682}" "" "" "" "Germline" "" "" "0" "" "" "g.21971174A>G" "" "VUS" "" "0000179197" "0" "55" "9" "21974795" "21974818" "del" "0.000142743" "00006" "CDKN2A_000001" "g.21974795_21974818del" "" "{PMID:Goldstein 2007:16905682}" "" "c.8_33del24" "This deletion causes the loss of 8 residues.\r\nVariant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.21974796_21974819del" "" "VUS" "" "0000179198" "0" "90" "9" "21971155" "21971156" "" "0" "00006" "CDKN2A_000073" "g.21971155_21971156delinsAA" "" "{PMID:Goldstein 2007:16905682}" "" "G202C203>TT" "" "Germline" "" "" "0" "" "" "g.21971156_21971157delinsAA" "" "pathogenic" "" "0000179199" "0" "55" "9" "21971145" "21971145" "subst" "0" "00006" "CDKN2A_000078" "g.21971145G>T" "" "{PMID:Goldstein 2007:16905682}" "" "" "" "Germline" "" "" "0" "" "" "g.21971146G>T" "" "VUS" "" "0000179200" "0" "90" "9" "21971199" "21971199" "subst" "9.16893E-6" "00006" "CDKN2A_000048" "g.21971199C>G" "" "{PMID:Harland 1997:9328469}" "" "" "" "Germline" "" "" "0" "" "" "g.21971200C>G" "" "pathogenic" "" "0000179201" "0" "55" "9" "21971122" "21971140" "del" "0" "00006" "CDKN2A_000079" "g.21971122_21971140del" "" "{PMID:Holland 1999:10398427}" "" "p16 Leiden" "" "Germline" "" "" "0" "" "" "g.21971123_21971141del" "" "VUS" "" "0000179202" "0" "70" "9" "21974685" "21974685" "subst" "0" "00006" "CDKN2A_000037" "g.21974685G>T" "" "{PMID:Huber 2006:16470311}" "" "" "" "Germline" "" "" "0" "" "" "g.21974686G>T" "" "likely pathogenic" "" "0000179203" "0" "55" "9" "21971036" "21971036" "subst" "0" "00006" "CDKN2A_000113" "g.21971036C>T" "" "{PMID:Huot 2002:12417717}" "" "" "Found together with patient carrying the p16 Leiden pathogenic mutation (unpublished results).; Protein_p14ARF: p.Arg122Gln" "Germline" "" "" "0" "" "" "g.21971037C>T" "" "VUS" "" "0000179204" "0" "90" "9" "21970901" "21970901" "subst" "0" "00006" "CDKN2A_000141" "g.21970901C>A" "" "{PMID:Loo 2003:14508519}" "" "451G>T, Asp145Cys (Moskaluk 1998)" "lacks 24 amino acids encoded by exon 2 and suffers a frameshift in exon 3 ({PMID:Loo 2003:14508519})" "Germline" "" "" "0" "" "" "g.21970902C>A" "" "pathogenic" "" "0000179205" "0" "90" "9" "21970900" "21970900" "subst" "0" "00006" "CDKN2A_000142" "g.21970900C>A" "" "{PMID:Loo 2003:14508519}" "" "" "lacks 24 amino acids encoded by exon 2 and suffers a frameshift in exon 3 (Loo 2003)" "Germline" "" "" "0" "" "" "g.21970901C>A" "" "pathogenic" "" "0000179206" "0" "53" "9" "21971040" "21971040" "subst" "0.000219659" "00006" "CDKN2A_000111" "g.21971040C>T" "" "{PMID:Orlow 2001:11687599}" "" "" "" "Germline" "" "" "0" "" "" "g.21971041C>T" "" "VUS" "" "0000179207" "0" "55" "9" "21974732" "21974732" "subst" "0" "00006" "CDKN2A_000022" "g.21974732A>G" "" "{PMID:Orlow 2001:11687599}" "" "" "" "Germline" "" "" "0" "" "" "g.21974733A>G" "" "VUS" "" "0000179208" "0" "55" "9" "21974681" "21974681" "subst" "0.000617865" "00006" "CDKN2A_000041" "g.21974681A>G" "" "{PMID:Orlow 2001:11687599}" "" "" "" "Germline" "" "" "0" "" "" "g.21974682A>G" "" "VUS" "" "0000179209" "0" "55" "9" "21970985" "21970985" "subst" "0.000104324" "00006" "CDKN2A_000129" "g.21970985C>G" "" "{PMID:Orlow 2007:17218939}" "" "" "" "Germline" "" "" "0" "" "" "g.21970986C>G" "" "VUS" "" "0000179210" "0" "55" "9" "21974780" "21974780" "subst" "0" "00006" "CDKN2A_000009" "g.21974780A>C" "" "{PMID:Orlow 2007:17218939}" "" "L16P" "" "Germline" "" "" "0" "" "" "g.21974781A>C" "" "VUS" "" "0000179211" "0" "90" "9" "21974741" "21974741" "del" "0" "00006" "CDKN2A_000021" "g.21974741del" "" "{PMID:Orlow 2007:17218939}" "" "" "The new reading frame ends in a STOP codon 22 positions downstream." "Germline" "" "" "0" "" "" "g.21974742del" "" "pathogenic" "" "0000179212" "0" "55" "9" "21974678" "21974678" "subst" "0" "00006" "CDKN2A_000043" "g.21974678T>G" "" "{PMID:Orlow 2007:17218939}" "" "" "Variant occurs in splice site." "Germline" "" "" "0" "" "" "g.21974679T>G" "" "VUS" "" "0000179213" "0" "55" "9" "21971188" "21971188" "subst" "9.212E-5" "00006" "CDKN2A_000054" "g.21971188G>A" "" "{PMID:Orlow 2007:17218939}" "" "" "reported for p14ARF as R112R by {PMID:Goldstein 2008:18178632}; Protein_p14ARF: p.= (Arg71)" "Germline" "" "" "0" "" "" "g.21971189G>A" "" "VUS" "" "0000179214" "0" "55" "9" "21974678" "21974678" "subst" "4.08951E-6" "00006" "CDKN2A_000044" "g.21974678T>C" "" "{PMID:Pollock 2001:11477665}" "" "" "Variant occurs in splice site." "Germline" "" "" "0" "" "" "g.21974679T>C" "" "VUS" "" "0000179215" "0" "90" "9" "21971159" "21971159" "subst" "4.77683E-6" "00006" "CDKN2A_000067" "g.21971159C>T" "" "{PMID:Rizos 2001:11518711}" "" "" "alters both p16 and p14ARF function functionally {PMID:Rizos 2001:11518711}; Protein_p14ARF: p.Arg81Gln" "Germline" "" "" "0" "" "" "g.21971160C>T" "" "pathogenic" "" "0000179216" "0" "90" "9" "21974783" "21974783" "subst" "0" "00006" "CDKN2A_000005" "g.21974783C>T" "" "{PMID:Ruas 1998:9823374}" "" "" "Nonsense substitution." "Germline" "" "" "0" "" "" "g.21974784C>T" "" "pathogenic" "" "0000179217" "0" "55" "9" "21971006" "21971006" "subst" "0" "00006" "CDKN2A_000123" "g.21971006C>T" "" "{PMID:Ruas 1998:9823374}" "" "" "" "Germline" "" "" "0" "" "" "g.21971007C>T" "" "VUS" "" "0000179218" "0" "90" "9" "21971186" "21971186" "subst" "0" "00006" "CDKN2A_000056" "g.21971186G>A" "" "{PMID:Ruas 1998:9823374}" "" "" "" "Germline" "" "" "0" "" "" "g.21971187G>A" "" "pathogenic" "" "0000179219" "0" "55" "9" "21971107" "21971120" "del" "0" "00006" "CDKN2A_000081" "g.21971107_21971120del" "" "{PMID:Ruas 1998:9823374}" "" "p.1-80p16:100-133p14" "" "Germline" "" "" "0" "" "" "g.21971108_21971121del" "" "VUS" "" "0000179220" "0" "55" "9" "21971182" "21971182" "subst" "4.63255E-6" "00006" "CDKN2A_000058" "g.21971182A>C" "" "{PMID:Ruiz 1999:10874641}" "" "" "recurrent mutation in 4 different families (Israel, French 2x, Spanish) ({PMID:Yakobson 2003:12700603}); Protein_p14ARF: p.Ser73Arg" "Germline" "" "" "0" "" "" "g.21971183A>C" "" "VUS" "" "0000179221" "0" "90" "9" "21974723" "21974723" "subst" "1.2435E-5" "00006" "CDKN2A_000024" "g.21974723C>G" "" "{PMID:Soufir 1998:9425228}" "" "" "" "Germline" "" "" "0" "" "" "g.21974724C>G" "" "pathogenic" "" "0000179222" "0" "55" "9" "21970916" "21970916" "subst" "0.0208602" "00006" "CDKN2A_000140" "g.21970916C>T" "" "{PMID:Spica 2006:16614725}" "" "482G>A (Bartsch 2002)" "rs3731249" "Germline" "" "" "0" "" "" "g.21970917C>T" "" "VUS" "" "0000179223" "0" "55" "9" "21971146" "21971146" "subst" "0" "00006" "CDKN2A_000076" "g.21971146T>C" "" "{PMID:Walker 1999:1038976}" "" "" "" "Germline" "" "" "0" "" "" "g.21971147T>C" "" "VUS" "" "0000179224" "0" "55" "9" "21974780" "21974780" "subst" "0" "00006" "CDKN2A_000008" "g.21974780A>G" "" "{PMID:Whiteman 1997:9326917}" "" "c.47T>G" "" "Germline" "" "" "0" "" "" "g.21974781A>G" "" "VUS" "" "0000179225" "0" "55" "9" "21971036" "21971036" "subst" "0" "00006" "CDKN2A_000113" "g.21971036C>T" "" "{PMID:Begg 2005:16234564}" "" "" "Found together with patient carrying the p16 Leiden pathogenic mutation (unpublished results).; Protein_p14ARF: p.Arg122Gln" "Germline" "" "" "0" "" "" "g.21971037C>T" "" "VUS" "" "0000179226" "0" "55" "9" "21971024" "21971024" "subst" "0" "00006" "CDKN2A_000116" "g.21971024G>C" "" "{PMID:Begg 2005:16234564}" "" "" "" "Germline" "" "" "0" "" "" "g.21971025G>C" "" "VUS" "" "0000179227" "0" "55" "9" "21974732" "21974732" "subst" "0" "00006" "CDKN2A_000022" "g.21974732A>G" "" "{PMID:Begg 2005:16234564}" "" "" "" "Germline" "" "" "0" "" "" "g.21974733A>G" "" "VUS" "" "0000179228" "0" "55" "9" "21974681" "21974681" "subst" "0.000617865" "00006" "CDKN2A_000041" "g.21974681A>G" "" "{PMID:Begg 2005:16234564}" "" "" "" "Germline" "" "" "0" "" "" "g.21974682A>G" "" "VUS" "" "0000179229" "0" "90" "9" "21974681" "21974681" "subst" "0" "00006" "CDKN2A_000040" "g.21974681A>C" "" "{PMID:Begg 2005:16234564}" "" "" "" "Germline" "" "" "0" "" "" "g.21974682A>C" "" "pathogenic" "" "0000179230" "0" "55" "9" "21971191" "21971191" "subst" "0" "00006" "CDKN2A_000053" "g.21971191C>A" "" "{PMID:Begg 2005:16234564}" "" "" "homozygous patient ({PMID:Kannengiesser 2007:17492760}); Protein_p14ARF: p.Gln70His" "Germline" "" "" "0" "" "" "g.21971192C>A" "" "VUS" "" "0000179231" "0" "90" "9" "21974723" "21974723" "subst" "1.2435E-5" "00006" "CDKN2A_000024" "g.21974723C>G" "" "{PMID:Bishop 2002:12072543}" "" "" "" "Germline" "" "" "0" "" "" "g.21974724C>G" "" "pathogenic" "" "0000179232" "0" "55" "9" "21971146" "21971146" "subst" "0" "00006" "CDKN2A_000076" "g.21971146T>C" "" "{PMID:Bishop 2002:12072543}" "" "" "" "Germline" "" "" "0" "" "" "g.21971147T>C" "" "VUS" "" "0000179233" "0" "55" "9" "21971122" "21971140" "del" "0" "00006" "CDKN2A_000079" "g.21971122_21971140del" "" "{PMID:Bishop 2002:12072543}" "" "p16 Leiden" "" "Germline" "" "" "0" "" "" "g.21971123_21971141del" "" "VUS" "" "0000179234" "1" "90" "9" "21971022" "21971024" "dup" "0" "00006" "CDKN2A_000115" "g.21971022_21971024dup" "" "{PMID:Borg 2000:10922411}" "" "Ins R113" "Founder mutation in Sweden" "Germline" "" "" "0" "" "" "g.21971023_21971025dup" "" "pathogenic" "" "0000179235" "0" "55" "9" "21974780" "21974780" "subst" "0" "00006" "CDKN2A_000008" "g.21974780A>G" "" "{PMID:Chaudru 2004:15150307}" "" "c.47T>G" "" "Germline" "" "" "0" "" "" "g.21974781A>G" "" "VUS" "" "0000179236" "0" "90" "9" "21974774" "21974779" "dup" "0" "00006" "CDKN2A_000010" "g.21974774_21974779dup" "" "{PMID:Chaudru 2004:15150307}" "" "" "This duplication causes the duplication of 2 residue(s): TA." "Germline" "" "" "0" "" "" "g.21974775_21974780dup" "" "pathogenic" "" "0000179237" "0" "55" "9" "21974759" "21974759" "subst" "0" "00006" "CDKN2A_000014" "g.21974759C>T" "" "{PMID:Chaudru 2004:15150307}" "" "" "" "Germline" "" "" "0" "" "" "g.21974760C>T" "" "VUS" "" "0000179238" "0" "55" "9" "21971173" "21971173" "subst" "0" "00006" "CDKN2A_000061" "g.21971173A>G" "" "{PMID:Chaudru 2004:15150307}" "" "" "" "Germline" "" "" "0" "" "" "g.21971174A>G" "" "VUS" "" "0000179239" "0" "90" "9" "21971155" "21971156" "" "0" "00006" "CDKN2A_000073" "g.21971155_21971156delinsAA" "" "{PMID:Chaudru 2004:15150307}" "" "G202C203>TT" "" "Germline" "" "" "0" "" "" "g.21971156_21971157delinsAA" "" "pathogenic" "" "0000179240" "0" "55" "9" "21971145" "21971145" "subst" "0" "00006" "CDKN2A_000078" "g.21971145G>T" "" "{PMID:Chaudru 2004:15150307}" "" "" "" "Germline" "" "" "0" "" "" "g.21971146G>T" "" "VUS" "" "0000179241" "0" "55" "9" "21974678" "21974678" "subst" "4.08951E-6" "00006" "CDKN2A_000044" "g.21974678T>C" "" "{PMID:Goldstein 2007:16905682}" "" "" "Variant occurs in splice site." "Germline" "" "" "0" "" "" "g.21974679T>C" "" "VUS" "" "0000179242" "0" "90" "9" "21971186" "21971186" "subst" "0" "00006" "CDKN2A_000056" "g.21971186G>A" "" "{PMID:Goldstein 2007:16905682}" "" "" "" "Germline" "" "" "0" "" "" "g.21971187G>A" "" "pathogenic" "" "0000179243" "0" "55" "9" "21974795" "21974818" "dup" "8.65112E-6" "00006" "CDKN2A_000002" "g.21974795_21974818dup" "" "{PMID:Goldstein 2007:16905682}" "" "" "This duplication causes the duplication of 8 residue(s).\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.21974796_21974819dup" "" "VUS" "" "0000179244" "0" "55" "9" "21971188" "21971188" "subst" "9.212E-5" "00006" "CDKN2A_000054" "g.21971188G>A" "" "{PMID:Goldstein 2008:18178632}" "" "" "reported for p14ARF as R112R by {PMID:Goldstein 2008:18178632}; Protein_p14ARF: p.= (Arg71)" "Germline" "" "" "0" "" "" "g.21971189G>A" "" "VUS" "" "0000179245" "0" "55" "9" "21974756" "21974756" "subst" "1.70923E-5" "00006" "CDKN2A_000015" "g.21974756C>G" "" "{PMID:Holland 1995:8570179}" "" "" "" "Germline" "" "" "0" "" "" "g.21974757C>G" "" "VUS" "" "0000179246" "0" "90" "9" "21970900" "21970900" "subst" "0" "00006" "CDKN2A_000142" "g.21970900C>A" "" "{PMID:Kannengieser 2003:14506702}" "" "" "lacks 24 amino acids encoded by exon 2 and suffers a frameshift in exon 3 (Loo 2003)" "Germline" "" "" "0" "" "" "g.21970901C>A" "" "pathogenic" "" "0000179247" "0" "55" "9" "21974780" "21974780" "subst" "0" "00006" "CDKN2A_000009" "g.21974780A>C" "" "{PMID:Monnerat 2007:17624602}" "" "L16P" "" "Germline" "" "" "0" "" "" "g.21974781A>C" "" "VUS" "" "0000179248" "0" "55" "9" "21971006" "21971006" "subst" "0" "00006" "CDKN2A_000123" "g.21971006C>T" "" "{PMID:Newton Bishop 1999:10390011}" "" "" "" "Germline" "" "" "0" "" "" "g.21971007C>T" "" "VUS" "" "0000179249" "0" "55" "9" "21971107" "21971120" "del" "0" "00006" "CDKN2A_000081" "g.21971107_21971120del" "" "{PMID:Ohta 1994:7923152}" "" "p.1-80p16:100-133p14" "" "Germline" "" "" "0" "" "" "g.21971108_21971121del" "" "VUS" "" "0000179250" "0" "55" "9" "21971182" "21971182" "subst" "4.63255E-6" "00006" "CDKN2A_000058" "g.21971182A>C" "" "{PMID:Ruas 1998:9823374}" "" "" "recurrent mutation in 4 different families (Israel, French 2x, Spanish) ({PMID:Yakobson 2003:12700603}); Protein_p14ARF: p.Ser73Arg" "Germline" "" "" "0" "" "" "g.21971183A>C" "" "VUS" "" "0000179251" "0" "55" "9" "21970916" "21970916" "subst" "0.0208602" "00006" "CDKN2A_000140" "g.21970916C>T" "" "{PMID:Stratigos 2006:16374456}" "" "482G>A (Bartsch 2002)" "rs3731249" "Germline" "" "" "0" "" "" "g.21970917C>T" "" "VUS" "" "0000179252" "0" "90" "9" "21971199" "21971199" "subst" "9.16893E-6" "00006" "CDKN2A_000048" "g.21971199C>G" "" "{PMID:Walker 1995:8595405}" "" "" "" "Germline" "" "" "0" "" "" "g.21971200C>G" "" "pathogenic" "" "0000179253" "0" "90" "9" "21971098" "21971098" "subst" "0" "00006" "CDKN2A_000091" "g.21971098C>G" "" "{PMID:Yu 2002:12352668}" "" "" "" "Germline" "" "" "0" "" "" "g.21971099C>G" "" "pathogenic" "" "0000179254" "0" "55" "9" "21974759" "21974759" "subst" "0" "00006" "CDKN2A_000014" "g.21974759C>T" "" "{PMID:Begg 2005:16234564}" "" "" "" "Germline" "" "" "0" "" "" "g.21974760C>T" "" "VUS" "" "0000179255" "0" "55" "9" "21970916" "21970916" "subst" "0.0208602" "00006" "CDKN2A_000140" "g.21970916C>T" "" "{PMID:Bertram 2002:12406345}" "" "482G>A (Bartsch 2002)" "rs3731249" "Germline" "" "" "0" "" "" "g.21970917C>T" "" "VUS" "" "0000179256" "0" "90" "9" "21971098" "21971098" "subst" "0" "00006" "CDKN2A_000091" "g.21971098C>G" "" "{PMID:Goldstein 2007:16905682}" "" "" "" "Germline" "" "" "0" "" "" "g.21971099C>G" "" "pathogenic" "" "0000179257" "0" "55" "9" "21971036" "21971036" "subst" "0" "00006" "CDKN2A_000113" "g.21971036C>T" "" "{PMID:Goldstein 2007:16905682}" "" "" "Found together with patient carrying the p16 Leiden pathogenic mutation (unpublished results).; Protein_p14ARF: p.Arg122Gln" "Germline" "" "" "0" "" "" "g.21971037C>T" "" "VUS" "" "0000179258" "0" "55" "9" "21971024" "21971024" "subst" "0" "00006" "CDKN2A_000116" "g.21971024G>C" "" "{PMID:Goldstein 2007:16905682}" "" "" "" "Germline" "" "" "0" "" "" "g.21971025G>C" "" "VUS" "" "0000179259" "0" "55" "9" "21974780" "21974780" "subst" "0" "00006" "CDKN2A_000008" "g.21974780A>G" "" "{PMID:Goldstein 2007:16905682}" "" "c.47T>G" "" "Germline" "" "" "0" "" "" "g.21974781A>G" "" "VUS" "" "0000179260" "0" "55" "9" "21974732" "21974732" "subst" "0" "00006" "CDKN2A_000022" "g.21974732A>G" "" "{PMID:Goldstein 2007:16905682}" "" "" "" "Germline" "" "" "0" "" "" "g.21974733A>G" "" "VUS" "" "0000179261" "0" "90" "9" "21974723" "21974723" "subst" "1.2435E-5" "00006" "CDKN2A_000024" "g.21974723C>G" "" "{PMID:Goldstein 2007:16905682}" "" "" "" "Germline" "" "" "0" "" "" "g.21974724C>G" "" "pathogenic" "" "0000179262" "0" "55" "9" "21971146" "21971146" "subst" "0" "00006" "CDKN2A_000076" "g.21971146T>C" "" "{PMID:Goldstein 2007:16905682}" "" "" "" "Germline" "" "" "0" "" "" "g.21971147T>C" "" "VUS" "" "0000179263" "0" "55" "9" "21971122" "21971140" "del" "0" "00006" "CDKN2A_000079" "g.21971122_21971140del" "" "{PMID:Goldstein 2007:16905682}" "" "p16 Leiden" "" "Germline" "" "" "0" "" "" "g.21971123_21971141del" "" "VUS" "" "0000179264" "0" "90" "9" "21974681" "21974681" "subst" "0" "00006" "CDKN2A_000040" "g.21974681A>C" "" "{PMID:Lal 2000:10719365}" "" "" "" "Germline" "" "" "0" "" "" "g.21974682A>C" "" "pathogenic" "" "0000179265" "0" "55" "9" "21971191" "21971191" "subst" "0" "00006" "CDKN2A_000053" "g.21971191C>A" "" "{PMID:Landi 2004:15235029}" "" "" "homozygous patient ({PMID:Kannengiesser 2007:17492760}); Protein_p14ARF: p.Gln70His" "Germline" "" "" "0" "" "" "g.21971192C>A" "" "VUS" "" "0000179266" "0" "55" "9" "21974819" "21974842" "dup" "0" "00006" "CDKN2A_000002" "g.21974819_21974842dup" "" "{PMID:Lang 2005:16307646}" "" "32–33ins9–32" "" "Germline" "" "" "0" "" "" "g.21974820_21974843dup" "" "VUS" "" "0000179267" "0" "55" "9" "21974681" "21974681" "subst" "0.000617865" "00006" "CDKN2A_000041" "g.21974681A>G" "" "{PMID:Orlow 2007:17218939}" "" "" "" "Germline" "" "" "0" "" "" "g.21974682A>G" "" "VUS" "" "0000179268" "0" "90" "9" "21971021" "21971023" "dup" "0" "00006" "CDKN2A_000115" "g.21971021_21971023dup" "" "{PMID:Ruas 1998:9823374}" "" "Ins R113" "Founder mutation in Sweden.; Protein_p14ARF: p.127_128insSer\r\nVariant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.21971022_21971024dup" "" "pathogenic" "" "0000179269" "0" "55" "9" "21974756" "21974756" "subst" "1.70923E-5" "00006" "CDKN2A_000015" "g.21974756C>G" "" "{PMID:Ruas 1998:9823374}" "" "" "" "Germline" "" "" "0" "" "" "g.21974757C>G" "" "VUS" "" "0000179270" "0" "90" "9" "21971199" "21971199" "subst" "9.16893E-6" "00006" "CDKN2A_000048" "g.21971199C>G" "" "{PMID:Ruas 1998:9823374}" "" "" "" "Germline" "" "" "0" "" "" "g.21971200C>G" "" "pathogenic" "" "0000179271" "0" "55" "9" "21974678" "21974678" "subst" "4.08951E-6" "00006" "CDKN2A_000044" "g.21974678T>C" "" "{PMID:Smith-Sorensen 1996:8723678}" "" "" "Variant occurs in splice site." "Germline" "" "" "0" "" "" "g.21974679T>C" "" "VUS" "" "0000179272" "0" "90" "9" "21971186" "21971186" "subst" "0" "00006" "CDKN2A_000056" "g.21971186G>A" "" "{PMID:Smith-Sorensen 1996:8723678}" "" "" "" "Germline" "" "" "0" "" "" "g.21971187G>A" "" "pathogenic" "" "0000179273" "0" "55" "9" "21971191" "21971191" "subst" "0" "00006" "CDKN2A_000053" "g.21971191C>A" "" "{PMID:Chaudru 2004:15150307}" "" "" "homozygous patient ({PMID:Kannengiesser 2007:17492760}); Protein_p14ARF: p.Gln70His" "Germline" "" "" "0" "" "" "g.21971192C>A" "" "VUS" "" "0000179274" "0" "55" "9" "21974795" "21974818" "dup" "8.65112E-6" "00006" "CDKN2A_000002" "g.21974795_21974818dup" "" "{PMID:Flores 1997:9416844}" "" "" "This duplication causes the duplication of 8 residue(s).\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.21974796_21974819dup" "" "VUS" "" "0000179275" "0" "55" "9" "21974759" "21974759" "subst" "0" "00006" "CDKN2A_000014" "g.21974759C>T" "" "{PMID:Goldstein 2007:16905682}" "" "" "" "Germline" "" "" "0" "" "" "g.21974760C>T" "" "VUS" "" "0000179276" "0" "90" "9" "21971021" "21971023" "dup" "0" "00006" "CDKN2A_000115" "g.21971021_21971023dup" "" "{PMID:Hashemi 2000:11156381}" "" "Ins R113" "Founder mutation in Sweden.; Protein_p14ARF: p.127_128insSer\r\nVariant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.21971022_21971024dup" "" "pathogenic" "" "0000179277" "0" "55" "9" "21974756" "21974756" "subst" "1.70923E-5" "00006" "CDKN2A_000015" "g.21974756C>G" "" "{PMID:Holland 1999:10398427}" "" "" "" "Germline" "" "" "0" "" "" "g.21974757C>G" "" "VUS" "" "0000179278" "0" "90" "9" "21971199" "21971199" "subst" "9.16893E-6" "00006" "CDKN2A_000048" "g.21971199C>G" "" "{PMID:Holland 1999:10398427}" "" "" "" "Germline" "" "" "0" "" "" "g.21971200C>G" "" "pathogenic" "" "0000179279" "0" "55" "9" "21971024" "21971024" "subst" "0" "00006" "CDKN2A_000116" "g.21971024G>C" "" "{PMID:Lang 2005:16307646}" "" "R112G" "" "Germline" "" "" "0" "" "" "g.21971025G>C" "" "VUS" "" "0000179280" "0" "55" "9" "21974780" "21974780" "subst" "0" "00006" "CDKN2A_000008" "g.21974780A>G" "" "{PMID:Monnerat 2007:17624602}" "" "c.47T>G" "" "Germline" "" "" "0" "" "" "g.21974781A>G" "" "VUS" "" "0000179281" "0" "55" "9" "21970916" "21970916" "subst" "0.0208602" "00006" "CDKN2A_000140" "g.21970916C>T" "" "{PMID:Orlow 2007:17218939}" "" "482G>A (Bartsch 2002)" "rs3731249" "Germline" "" "" "0" "" "" "g.21970917C>T" "" "VUS" "" "0000179282" "0" "55" "9" "21974732" "21974732" "subst" "0" "00006" "CDKN2A_000022" "g.21974732A>G" "" "{PMID:Orlow 2007:17218939}" "" "" "" "Germline" "" "" "0" "" "" "g.21974733A>G" "" "VUS" "" "0000179283" "0" "90" "9" "21974681" "21974681" "subst" "0" "00006" "CDKN2A_000040" "g.21974681A>C" "" "{PMID:Orlow 2007:17218939}" "" "" "" "Germline" "" "" "0" "" "" "g.21974682A>C" "" "pathogenic" "" "0000179284" "0" "90" "9" "21971098" "21971098" "subst" "0" "00006" "CDKN2A_000091" "g.21971098C>G" "" "{PMID:Ruiz 1999:10874641}" "" "" "" "Germline" "" "" "0" "" "" "g.21971099C>G" "" "pathogenic" "" "0000179286" "0" "55" "9" "21974756" "21974756" "subst" "1.70923E-5" "00006" "CDKN2A_000015" "g.21974756C>G" "" "{PMID:Florell 2004:15304099}" "" "" "" "Germline" "" "" "0" "" "" "g.21974757C>G" "" "VUS" "" "0000179287" "0" "90" "9" "21971021" "21971023" "dup" "0" "00006" "CDKN2A_000115" "g.21971021_21971023dup" "" "{PMID:Hashemi 2001:11319798}" "" "Ins R113" "Founder mutation in Sweden.; Protein_p14ARF: p.127_128insSer\r\nVariant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.21971022_21971024dup" "" "pathogenic" "" "0000179288" "0" "55" "9" "21974759" "21974759" "subst" "0" "00006" "CDKN2A_000014" "g.21974759C>T" "" "{PMID:Hocevar 2006:17167857}" "" "" "" "Germline" "" "" "0" "" "" "g.21974760C>T" "" "VUS" "" "0000179289" "0" "55" "9" "21971191" "21971191" "subst" "0" "00006" "CDKN2A_000053" "g.21971191C>A" "" "{PMID:Kannengiesser 2007:17492760}" "" "" "homozygous patient ({PMID:Kannengiesser 2007:17492760}); Protein_p14ARF: p.Gln70His" "Germline" "" "" "0" "" "" "g.21971192C>A" "" "VUS" "" "0000179290" "0" "90" "9" "21971199" "21971199" "subst" "9.16893E-6" "00006" "CDKN2A_000048" "g.21971199C>G" "" "{PMID:Newton Bishop 1999:10390011}" "" "" "" "Germline" "" "" "0" "" "" "g.21971200C>G" "" "pathogenic" "" "0000179291" "0" "55" "9" "21970916" "21970916" "subst" "0.0208602" "00006" "CDKN2A_000140" "g.21970916C>T" "" "{PMID:Pjanova 2007:17505264}" "" "482G>A (Bartsch 2002)" "rs3731249" "Germline" "" "" "0" "" "" "g.21970917C>T" "" "VUS" "" "0000179292" "0" "90" "9" "21971098" "21971098" "subst" "0" "00006" "CDKN2A_000091" "g.21971098C>G" "" "{PMID:Smith-Sorensen 1996:8723678}" "" "" "" "Germline" "" "" "0" "" "" "g.21971099C>G" "" "pathogenic" "" "0000179293" "0" "55" "9" "21974732" "21974732" "subst" "0" "00006" "CDKN2A_000022" "g.21974732A>G" "" "{PMID:Smith-Sorensen 1996:8723678}" "" "" "" "Germline" "" "" "0" "" "" "g.21974733A>G" "" "VUS" "" "0000179294" "0" "55" "9" "21974756" "21974756" "subst" "1.70923E-5" "00006" "CDKN2A_000015" "g.21974756C>G" "" "{PMID:Begg 2005:16234564}" "" "" "" "Germline" "" "" "0" "" "" "g.21974757C>G" "" "VUS" "" "0000179295" "0" "55" "9" "21970916" "21970916" "subst" "0.0208602" "00006" "CDKN2A_000140" "g.21970916C>T" "" "{PMID:Gold:18178632}" "" "482G>A (Bartsch 2002)" "rs3731249" "Germline" "" "" "0" "" "" "g.21970917C>T" "" "VUS" "" "0000179300" "1" "90" "9" "21971057" "21971057" "subst" "0" "00006" "CDKN2A_000104" "g.21971057C>A" "" "{PMID:Blackwood 2002:12001124}" "" "G341T (G101W)" "" "Germline" "" "" "0" "" "" "g.21971058C>A" "" "pathogenic" "" "0000179301" "0" "90" "9" "21971199" "21971199" "subst" "9.16893E-6" "00006" "CDKN2A_000048" "g.21971199C>G" "" "{PMID:Blackwood 2002:12001124}" "" "G199C (M53I)" "" "Germline" "" "" "0" "" "" "g.21971200C>G" "" "pathogenic" "" "0000179302" "0" "90" "9" "21971107" "21971120" "del" "0" "00006" "CDKN2A_000081" "g.21971107_21971120del" "" "{PMID:Blackwood 2002:12001124}" "" "279del14" "" "Germline" "" "" "0" "" "" "g.21971108_21971121del" "" "pathogenic" "" "0000179303" "0" "90" "9" "21974805" "21974818" "dup" "0" "00006" "CDKN2A_000180" "g.21974805_21974818dup" "" "{PMID:Blackwood 2002:12001124}" "" "23ins24bp" "" "Germline" "" "" "0" "" "" "g.21974806_21974819dup" "" "pathogenic" "" "0000179304" "0" "50" "9" "21971024" "21971024" "subst" "0" "00006" "CDKN2A_000116" "g.21971024G>C" "" "{PMID:Lang 2005:16307646}" "" "R112G" "" "Germline" "" "" "0" "" "" "g.21971025G>C" "" "VUS" "" "0000188616" "0" "90" "9" "21970981" "21970981" "subst" "0" "00006" "CDKN2A_000130" "g.21970981A>T" "" "{PMID:Eliason 2006:16397522}" "" "" "" "Germline" "yes" "" "0" "" "" "g.21970982A>T" "" "pathogenic" "" "0000188617" "0" "90" "9" "21974860" "21974860" "subst" "4.46915E-5" "00006" "CDKN2A_000181" "g.21974860C>A" "" "{PMID:Eliason 2006:16397522}" "" "" "creates new translation start site" "Germline" "yes" "" "0" "" "" "g.21974861C>A" "" "pathogenic" "" "0000188618" "0" "90" "9" "21971057" "21971057" "subst" "0" "00006" "CDKN2A_000104" "g.21971057C>A" "" "{PMID:Eliason 2006:16397522}" "" "G101W" "" "Germline" "yes" "" "0" "" "" "g.21971058C>A" "" "pathogenic" "" "0000188619" "0" "10" "9" "21970916" "21970916" "subst" "0.0208602" "00006" "CDKN2A_000140" "g.21970916C>T" "" "{PMID:Eliason 2006:16397522}" "" "" "" "Germline" "no" "" "0" "" "" "g.21970917C>T" "" "benign" "" "0000188620" "0" "10" "9" "21974859" "21974859" "subst" "0.0012018" "00006" "CDKN2A_000155" "g.21974859C>G" "" "{PMID:Eliason 2006:16397522}" "" "" "" "Germline" "no" "" "0" "" "" "g.21974860C>G" "" "benign" "" "0000188621" "0" "50" "9" "21974851" "21974851" "subst" "0.00310457" "00006" "CDKN2A_000157" "g.21974851G>A" "" "{PMID:Eliason 2006:16397522}" "" "" "" "Germline" "yes" "" "0" "" "" "g.21974852G>A" "" "VUS" "" "0000266624" "0" "10" "9" "21968199" "21968199" "subst" "0.881416" "02325" "CDKN2A_000183" "g.21968199C>G" "" "" "" "CDKN2A(NM_000077.4):c.*29G>C, CDKN2A(NM_001195132.2):c.*193G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21968200C>G" "" "benign" "" "0000266625" "0" "70" "9" "21971179" "21971179" "subst" "0" "02325" "CDKN2A_000059" "g.21971179G>A" "" "" "" "CDKN2A(NM_000077.4):c.179C>T (p.(Ala60Val)), CDKN2A(NM_000077.5):c.179C>T (p.A60V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21971180G>A" "" "likely pathogenic" "" "0000266626" "0" "50" "9" "21971135" "21971135" "subst" "4.73355E-6" "02325" "CDKN2A_000184" "g.21971135G>A" "" "" "" "CDKN2A(NM_001195132.2):c.223C>T (p.P75S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21971136G>A" "" "VUS" "" "0000266627" "0" "90" "9" "21971122" "21971140" "del" "0" "02325" "CDKN2A_000079" "g.21971122_21971140del" "" "" "" "CDKN2A(NM_000077.4):c.225_243del (p.(Ala76Cysfs*64)), CDKN2A(NM_000077.4):c.225_243delCGCCACTCTCACCCGACCC (p.A76Cfs*64), CDKN2A(NM_001195132.1):c.2..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21971123_21971141del" "" "pathogenic" "" "0000266628" "0" "70" "9" "21971006" "21971006" "subst" "0" "02325" "CDKN2A_000123" "g.21971006C>T" "" "" "" "CDKN2A(NM_000077.4):c.352G>A (p.(Ala118Thr)), CDKN2A(NM_001195132.2):c.352G>A (p.A118T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21971007C>T" "" "likely pathogenic" "" "0000266629" "0" "70" "9" "21974760" "21974760" "subst" "0" "02325" "CDKN2A_000011" "g.21974760C>G" "" "" "" "CDKN2A(NM_001195132.2):c.67G>C (p.G23R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21974761C>G" "" "likely pathogenic" "" "0000268086" "0" "30" "9" "21971040" "21971040" "subst" "0.000219659" "02329" "CDKN2A_000111" "g.21971040C>T" "" "" "" "CDKN2A(NM_000077.4):c.318G>A (p.(Val106=)), CDKN2A(NM_058195.3):c.361G>A (p.A121T), CDKN2A(NM_058195.4):c.361G>A (p.A121T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21971041C>T" "" "likely benign" "" "0000269944" "0" "90" "9" "21971028" "21971028" "subst" "0" "02326" "CDKN2A_000114" "g.21971028C>T" "" "" "" "CDKN2A(NM_000077.4):c.330G>A (p.W110*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21971029C>T" "" "pathogenic" "" "0000269945" "0" "30" "9" "21970916" "21970916" "subst" "0.0208602" "02326" "CDKN2A_000140" "g.21970916C>T" "" "" "" "CDKN2A(NM_000077.4):c.442G>A (p.A148T, p.(Ala148Thr)), CDKN2A(NM_001195132.2):c.442G>A (p.A148T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21970917C>T" "" "likely benign" "" "0000273074" "0" "10" "9" "21968199" "21968199" "subst" "0.881416" "01943" "CDKN2A_000183" "g.21968199C>G" "" "" "" "CDKN2A(NM_000077.4):c.*29G>C, CDKN2A(NM_001195132.2):c.*193G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21968200C>G" "" "benign" "" "0000273076" "0" "10" "9" "21970916" "21970916" "subst" "0.0208602" "01943" "CDKN2A_000140" "g.21970916C>T" "" "" "" "CDKN2A(NM_000077.4):c.442G>A (p.A148T, p.(Ala148Thr)), CDKN2A(NM_001195132.2):c.442G>A (p.A148T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21970917C>T" "" "benign" "" "0000357940" "0" "90" "9" "21971122" "21971140" "del" "0" "00657" "CDKN2A_000079" "g.21971122_21971140del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21971123_21971141del" "" "pathogenic" "" "0000357941" "0" "90" "9" "21971122" "21971140" "del" "0" "00657" "CDKN2A_000079" "g.21971122_21971140del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21971123_21971141del" "" "pathogenic" "" "0000499734" "0" "70" "9" "21971057" "21971057" "subst" "0" "03356" "CDKN2A_000104" "g.21971057C>A" "" "{PMID:Schwartz 2019:31432501}" "" "" "" "Germline" "" "" "0" "" "" "g.21971058C>A" "" "likely pathogenic" "" "0000499735" "0" "50" "9" "21974774" "21974779" "dup" "0" "03356" "CDKN2A_000010" "g.21974774_21974779dup" "" "{PMID:Schwartz 2019:31432501}" "" "" "" "Germline" "" "" "0" "" "" "g.21974775_21974780dup" "" "VUS" "" "0000499736" "0" "50" "9" "21970928" "21970928" "subst" "0.000561705" "03356" "CDKN2A_000176" "g.21970928G>A" "" "{PMID:Schwartz 2019:31432501}" "" "" "" "Germline" "" "" "0" "" "" "g.21970929G>A" "" "VUS" "" "0000499737" "0" "50" "9" "21971057" "21971057" "subst" "0" "03356" "CDKN2A_000104" "g.21971057C>A" "" "{PMID:Schwartz 2019:31432501}" "" "" "" "Germline" "" "" "0" "" "" "g.21971058C>A" "" "likely pathogenic" "" "0000499738" "0" "50" "9" "21974637" "21974637" "subst" "0" "03356" "CDKN2A_000185" "g.21974637G>A" "gnomAD ALL:0.0032% - NFE:0.0065%" "{PMID:Schwartz 2019:31432501}" "" "" "NM_058197.4(CDKN2A):c.190C>T; p.(Arg64*) (protein p12)" "Germline" "?" "rs1057517604" "0" "" "" "g.21974638G>A" "" "VUS" "" "0000499740" "0" "50" "9" "21974640" "21974640" "subst" "0.00200656" "03356" "CDKN2A_000173" "g.21974640C>G" "gnomAD ALL:0.20% - AFR:0.092% - AMR:0.15% - SAS:0.052% - NFE:0.35% - FIN:0.060% - OTH:0.22%" "{PMID:Schwartz 2019:31432501}" "" "" "NM_058197.4(CDKN2A):c.187G>C ; p.(Gly63Arg) (protein p12)" "Germline" "" "rs45456595" "0" "" "" "g.21974641C>G" "" "VUS" "" "0000500446" "0" "90" "9" "21974756" "21974756" "subst" "1.70923E-5" "00643" "CDKN2A_000015" "g.21974756C>G" "" "{PMID:Fostira 2020:31300551}" "" "" "" "Germline" "" "" "0" "" "" "g.21974757C>G" "" "pathogenic" "" "0000537818" "0" "10" "9" "21968200" "21968200" "dup" "0" "01943" "CDKN2A_000186" "g.21968200dup" "" "" "" "CDKN2A(NM_000077.4):c.*28dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21968201dup" "" "benign" "" "0000537819" "0" "30" "9" "21970945" "21970945" "subst" "0" "01943" "CDKN2A_000138" "g.21970945C>G" "" "" "" "CDKN2A(NM_001195132.1):c.413G>C (p.R138T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21970946C>G" "" "likely benign" "" "0000537820" "0" "30" "9" "21971040" "21971040" "subst" "0.000219659" "02325" "CDKN2A_000111" "g.21971040C>T" "" "" "" "CDKN2A(NM_000077.4):c.318G>A (p.(Val106=)), CDKN2A(NM_058195.3):c.361G>A (p.A121T), CDKN2A(NM_058195.4):c.361G>A (p.A121T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21971041C>T" "" "likely benign" "" "0000537821" "0" "90" "9" "21971062" "21971062" "subst" "0" "02325" "CDKN2A_000102" "g.21971062C>G" "" "" "" "CDKN2A(NM_001195132.2):c.296G>C (p.R99P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21971063C>G" "" "pathogenic" "" "0000537822" "0" "90" "9" "21971122" "21971140" "del" "0" "02327" "CDKN2A_000079" "g.21971122_21971140del" "" "" "" "CDKN2A(NM_000077.4):c.225_243del (p.(Ala76Cysfs*64)), CDKN2A(NM_000077.4):c.225_243delCGCCACTCTCACCCGACCC (p.A76Cfs*64), CDKN2A(NM_001195132.1):c.2..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21971123_21971141del" "" "pathogenic" "" "0000537823" "0" "50" "9" "21971148" "21971148" "subst" "0" "02327" "CDKN2A_000187" "g.21971148G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21971149G>A" "" "VUS" "" "0000537824" "0" "30" "9" "21974640" "21974640" "subst" "0.00200656" "01943" "CDKN2A_000173" "g.21974640C>G" "" "" "" "CDKN2A(NM_000077.4):c.150+37G>C (p.(=)), CDKN2A(NM_058197.4):c.187G>C (p.G63R), CDKN2A(NM_058197.5):c.187G>C (p.G63R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21974641C>G" "" "likely benign" "" "0000537825" "0" "30" "9" "21974640" "21974640" "subst" "0.00200656" "02325" "CDKN2A_000173" "g.21974640C>G" "" "" "" "CDKN2A(NM_000077.4):c.150+37G>C (p.(=)), CDKN2A(NM_058197.4):c.187G>C (p.G63R), CDKN2A(NM_058197.5):c.187G>C (p.G63R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21974641C>G" "" "likely benign" "" "0000537826" "0" "50" "9" "21974769" "21974769" "subst" "4.37637E-6" "02327" "CDKN2A_000188" "g.21974769C>A" "" "" "" "CDKN2A(NM_000077.5):c.58G>T (p.A20S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21974770C>A" "" "VUS" "" "0000537827" "0" "90" "9" "21974780" "21974780" "subst" "0" "02325" "CDKN2A_000009" "g.21974780A>C" "" "" "" "CDKN2A(NM_000077.5):c.47T>G (p.L16R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21974781A>C" "" "pathogenic" "" "0000537828" "0" "30" "9" "21994259" "21994259" "subst" "0" "01943" "CDKN2A_000189" "g.21994259C>A" "" "" "" "CDKN2A(NM_058195.3):c.72G>T (p.V24=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21994260C>A" "" "likely benign" "" "0000612062" "0" "10" "9" "21968159" "21968159" "subst" "0" "02327" "CDKN2A_000152" "g.21968159G>A" "" "" "" "CDKN2A(NM_000077.4):c.*69C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21968160G>A" "" "benign" "" "0000612063" "0" "10" "9" "21968199" "21968199" "subst" "0.881416" "02327" "CDKN2A_000183" "g.21968199C>G" "" "" "" "CDKN2A(NM_000077.4):c.*29G>C, CDKN2A(NM_001195132.2):c.*193G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21968200C>G" "" "benign" "" "0000612064" "0" "90" "9" "21994138" "21994138" "subst" "0" "02327" "CDKN2A_000191" "g.21994138C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21994139C>G" "" "pathogenic" "" "0000622247" "0" "30" "9" "21970971" "21970971" "subst" "0" "02325" "CDKN2A_000190" "g.21970971G>A" "" "" "" "CDKN2A(NM_001195132.2):c.387C>T (p.Y129=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21970972G>A" "" "likely benign" "" "0000652690" "1" "90" "9" "21970981" "21970981" "subst" "0" "03575" "CDKN2A_000130" "g.21970981A>T" "2/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs104894098}" "Germline" "" "rs104894098" "0" "" "" "g.21970982A>T" "" "pathogenic" "" "0000652691" "1" "70" "9" "21971120" "21971120" "subst" "0" "03575" "CDKN2A_000193" "g.21971120G>A" "1/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "risk factor; 1 heterozygous, no homozygous; {DB:CLININrs121913388}" "Germline" "" "rs121913388" "0" "" "" "g.21971121G>A" "" "likely pathogenic" "" "0000652692" "1" "50" "9" "21971152" "21971152" "subst" "9.63382E-6" "03575" "CDKN2A_000075" "g.21971152T>C" "1/2694 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs372670098}" "Germline" "" "rs372670098" "0" "" "" "g.21971153T>C" "" "VUS" "" "0000653085" "1" "50" "9" "21971057" "21971057" "subst" "0" "03575" "CDKN2A_000104" "g.21971057C>A" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 4 heterozygous, no homozygous; {DB:CLININrs104894094}" "Germline" "" "rs104894094" "0" "" "" "g.21971058C>A" "" "VUS" "" "0000653185" "1" "50" "9" "21970901" "21970901" "subst" "0" "03575" "CDKN2A_000192" "g.21970901C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs45476696}" "Germline" "" "rs45476696" "0" "" "" "g.21970902C>T" "" "VUS" "" "0000653186" "1" "10" "9" "21970916" "21970916" "subst" "0.0208602" "03575" "CDKN2A_000140" "g.21970916C>T" "38/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "38 heterozygous, no homozygous; {DB:CLININrs3731249}" "Germline" "" "rs3731249" "0" "" "" "g.21970917C>T" "" "benign" "" "0000656328" "0" "10" "9" "21970916" "21970916" "subst" "0.0208602" "01804" "CDKN2A_000140" "g.21970916C>T" "" "" "" "CDKN2A(NM_000077.4):c.442G>A (p.A148T, p.(Ala148Thr)), CDKN2A(NM_001195132.2):c.442G>A (p.A148T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21970917C>T" "" "benign" "" "0000656329" "0" "10" "9" "21970916" "21970916" "subst" "0.0208602" "02327" "CDKN2A_000140" "g.21970916C>T" "" "" "" "CDKN2A(NM_000077.4):c.442G>A (p.A148T, p.(Ala148Thr)), CDKN2A(NM_001195132.2):c.442G>A (p.A148T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21970917C>T" "" "benign" "" "0000678650" "0" "50" "9" "21970989" "21970989" "subst" "0.00027144" "01943" "CDKN2A_000169" "g.21970989A>T" "" "" "" "CDKN2A(NM_001195132.1):c.369T>A (p.H123Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678651" "0" "30" "9" "21974640" "21974640" "subst" "0.00200656" "02327" "CDKN2A_000173" "g.21974640C>G" "" "" "" "CDKN2A(NM_000077.4):c.150+37G>C (p.(=)), CDKN2A(NM_058197.4):c.187G>C (p.G63R), CDKN2A(NM_058197.5):c.187G>C (p.G63R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690508" "0" "30" "9" "21971040" "21971040" "subst" "0.000219659" "01943" "CDKN2A_000111" "g.21971040C>T" "" "" "" "CDKN2A(NM_000077.4):c.318G>A (p.(Val106=)), CDKN2A(NM_058195.3):c.361G>A (p.A121T), CDKN2A(NM_058195.4):c.361G>A (p.A121T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690509" "0" "90" "9" "21971122" "21971140" "del" "0" "01804" "CDKN2A_000079" "g.21971122_21971140del" "" "" "" "CDKN2A(NM_000077.4):c.225_243del (p.(Ala76Cysfs*64)), CDKN2A(NM_000077.4):c.225_243delCGCCACTCTCACCCGACCC (p.A76Cfs*64), CDKN2A(NM_001195132.1):c.2..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000789653" "0" "70" "9" "21971146" "21971146" "subst" "0" "00585" "CDKN2A_000077" "g.21971146T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21971147T>A" "" "likely pathogenic" "ACMG" "0000804061" "0" "10" "9" "21968159" "21968159" "subst" "0" "02369" "CDKN2A_000152" "g.21968159G>A" "" "" "" "CDKN2A(NM_000077.4):c.*69C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000804062" "0" "10" "9" "21968199" "21968199" "subst" "0.881416" "02369" "CDKN2A_000183" "g.21968199C>G" "" "" "" "CDKN2A(NM_000077.4):c.*29G>C, CDKN2A(NM_001195132.2):c.*193G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000804063" "0" "10" "9" "21970916" "21970916" "subst" "0.0208602" "02369" "CDKN2A_000140" "g.21970916C>T" "" "" "" "CDKN2A(NM_000077.4):c.442G>A (p.A148T, p.(Ala148Thr)), CDKN2A(NM_001195132.2):c.442G>A (p.A148T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000804064" "0" "90" "9" "21971199" "21971199" "subst" "0" "02369" "CDKN2A_000049" "g.21971199C>T" "" "" "" "CDKN2A(NM_000077.4):c.159G>A (p.M53I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000804065" "0" "30" "9" "21974640" "21974640" "subst" "0.00200656" "02369" "CDKN2A_000173" "g.21974640C>G" "" "" "" "CDKN2A(NM_000077.4):c.150+37G>C (p.(=)), CDKN2A(NM_058197.4):c.187G>C (p.G63R), CDKN2A(NM_058197.5):c.187G>C (p.G63R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804066" "0" "30" "9" "21974734" "21974734" "subst" "0" "02369" "CDKN2A_000194" "g.21974734C>T" "" "" "" "CDKN2A(NM_000077.4):c.93G>A (p.L31=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804067" "0" "90" "9" "21974780" "21974780" "subst" "0" "02327" "CDKN2A_000009" "g.21974780A>C" "" "" "" "CDKN2A(NM_000077.5):c.47T>G (p.L16R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000839293" "10" "70" "9" "21971200" "21971200" "dup" "0" "04260" "CDKN2A_000195" "g.21971200dup" "" "Perez-Becerril et al. (submitted for publication)" "" "" "First identified at North East and Yorkshire Genomic Laboratory Hub." "Germline" "" "" "0" "" "" "g.21971201dup" "" "pathogenic" "ACGS" "0000852228" "0" "30" "9" "21968198" "21968198" "subst" "0.000105629" "02369" "CDKN2A_000196" "g.21968198C>T" "" "" "" "CDKN2A(NM_000077.4):c.*30G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852229" "0" "50" "9" "21971221" "21971221" "subst" "0.000174724" "01804" "CDKN2A_000197" "g.21971221C>T" "" "" "" "CDKN2A(NM_000077.4):c.151-14G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852230" "0" "50" "9" "21974705" "21974705" "subst" "0" "02327" "CDKN2A_000198" "g.21974705G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861606" "0" "30" "9" "21971040" "21971040" "subst" "0.000219659" "02327" "CDKN2A_000111" "g.21971040C>T" "" "" "" "CDKN2A(NM_000077.4):c.318G>A (p.(Val106=)), CDKN2A(NM_058195.3):c.361G>A (p.A121T), CDKN2A(NM_058195.4):c.361G>A (p.A121T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861607" "0" "90" "9" "21971122" "21971140" "del" "0" "01943" "CDKN2A_000079" "g.21971122_21971140del" "" "" "" "CDKN2A(NM_000077.4):c.225_243del (p.(Ala76Cysfs*64)), CDKN2A(NM_000077.4):c.225_243delCGCCACTCTCACCCGACCC (p.A76Cfs*64), CDKN2A(NM_001195132.1):c.2..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000861608" "0" "30" "9" "21974640" "21974640" "subst" "0.00200656" "02329" "CDKN2A_000173" "g.21974640C>G" "" "" "" "CDKN2A(NM_000077.4):c.150+37G>C (p.(=)), CDKN2A(NM_058197.4):c.187G>C (p.G63R), CDKN2A(NM_058197.5):c.187G>C (p.G63R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861609" "0" "90" "9" "21974819" "21974842" "dup" "0" "01943" "CDKN2A_000002" "g.21974819_21974842dup" "" "" "" "CDKN2A(NM_000077.4):c.9_32dupGGCGGCGGGGAGCAGCATGGAGCC (p.A4_P11dup), CDKN2A(NM_001195132.1):c.9_32dupGGCGGCGGGGAGCAGCATGGAGCC (p.A4_P11dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000861610" "0" "90" "9" "21974860" "21974860" "subst" "4.46915E-5" "02327" "CDKN2A_000181" "g.21974860C>A" "" "" "" "CDKN2A(NM_000077.4):c.-34G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000877199" "0" "30" "9" "21971430" "21971430" "subst" "0" "03779" "CDKN2A_000199" "g.21971430C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs138233963" "0" "" "" "" "" "likely benign" "" "0000888784" "0" "10" "9" "21970916" "21970916" "subst" "0.0208602" "02329" "CDKN2A_000140" "g.21970916C>T" "" "" "" "CDKN2A(NM_000077.4):c.442G>A (p.A148T, p.(Ala148Thr)), CDKN2A(NM_001195132.2):c.442G>A (p.A148T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888785" "0" "30" "9" "21971040" "21971040" "subst" "0.000219659" "02326" "CDKN2A_000111" "g.21971040C>T" "" "" "" "CDKN2A(NM_000077.4):c.318G>A (p.(Val106=)), CDKN2A(NM_058195.3):c.361G>A (p.A121T), CDKN2A(NM_058195.4):c.361G>A (p.A121T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888786" "0" "90" "9" "21971122" "21971140" "del" "0" "02326" "CDKN2A_000079" "g.21971122_21971140del" "" "" "" "CDKN2A(NM_000077.4):c.225_243del (p.(Ala76Cysfs*64)), CDKN2A(NM_000077.4):c.225_243delCGCCACTCTCACCCGACCC (p.A76Cfs*64), CDKN2A(NM_001195132.1):c.2..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888787" "0" "90" "9" "21971122" "21971140" "del" "0" "02329" "CDKN2A_000079" "g.21971122_21971140del" "" "" "" "CDKN2A(NM_000077.4):c.225_243del (p.(Ala76Cysfs*64)), CDKN2A(NM_000077.4):c.225_243delCGCCACTCTCACCCGACCC (p.A76Cfs*64), CDKN2A(NM_001195132.1):c.2..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888788" "0" "10" "9" "21971211" "21971211" "subst" "0.00204702" "01804" "CDKN2A_000200" "g.21971211C>G" "" "" "" "CDKN2A(NM_000077.4):c.151-4G>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888789" "0" "90" "9" "21974756" "21974756" "subst" "1.70923E-5" "02327" "CDKN2A_000015" "g.21974756C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888790" "0" "50" "9" "21974769" "21974769" "subst" "4.37637E-6" "02325" "CDKN2A_000188" "g.21974769C>A" "" "" "" "CDKN2A(NM_000077.5):c.58G>T (p.A20S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000900638" "0" "70" "9" "21971036" "21971036" "subst" "0" "03779" "CDKN2A_000201" "g.21971036C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000900666" "0" "70" "9" "21971036" "21971036" "subst" "0" "03779" "CDKN2A_000201" "g.21971036C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000902150" "0" "30" "9" "21994106" "21994106" "subst" "4.45339E-6" "03779" "CDKN2A_000202" "g.21994106T>A" "" "" "" "" "" "Unknown" "" "rs767841534" "0" "" "" "" "" "likely benign" "" "0000913141" "0" "70" "9" "21974678" "21974678" "subst" "0" "02327" "CDKN2A_000043" "g.21974678T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000917030" "0" "90" "9" "21971129" "21971129" "subst" "0" "03779" "CDKN2A_000203" "g.21971129T>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000925028" "0" "10" "9" "21971184" "21971184" "subst" "0.000693584" "02326" "CDKN2A_000057" "g.21971184T>G" "" "" "" "CDKN2A(NM_058195.3):c.217A>C (p.S73R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929581" "0" "30" "9" "21971040" "21971040" "subst" "0.000219659" "01804" "CDKN2A_000111" "g.21971040C>T" "" "" "" "CDKN2A(NM_000077.4):c.318G>A (p.(Val106=)), CDKN2A(NM_058195.3):c.361G>A (p.A121T), CDKN2A(NM_058195.4):c.361G>A (p.A121T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929582" "0" "30" "9" "21974800" "21974800" "subst" "0" "02327" "CDKN2A_000204" "g.21974800C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929583" "0" "90" "9" "21974860" "21974860" "subst" "4.46915E-5" "01804" "CDKN2A_000181" "g.21974860C>A" "" "" "" "CDKN2A(NM_000077.4):c.-34G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000939701" "0" "90" "9" "21971018" "21971019" "delins" "0" "03779" "CDKN2A_000205" "g.21971018_21971019delinsAG" "" "" "" "" "" "CLASSIFICATION record" "" "rs387906410" "0" "" "" "" "" "pathogenic" "" "0000949259" "0" "70" "9" "21971006" "21971006" "subst" "0" "01804" "CDKN2A_000123" "g.21971006C>T" "" "" "" "CDKN2A(NM_000077.4):c.352G>A (p.(Ala118Thr)), CDKN2A(NM_001195132.2):c.352G>A (p.A118T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000949260" "0" "50" "9" "21974640" "21974640" "subst" "0.00200656" "01804" "CDKN2A_000173" "g.21974640C>G" "" "" "" "CDKN2A(NM_000077.4):c.150+37G>C (p.(=)), CDKN2A(NM_058197.4):c.187G>C (p.G63R), CDKN2A(NM_058197.5):c.187G>C (p.G63R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949261" "0" "90" "9" "21994137" "21994137" "subst" "0" "01804" "CDKN2A_000154" "g.21994137C>T" "" "" "" "CDKN2A(NM_058195.3):c.193+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000951844" "0" "90" "9" "21974799" "21974799" "subst" "0" "04599" "CDKN2A_000206" "g.21974799C>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.21974800C>A" "" "pathogenic" "ACMG" "0000952206" "0" "90" "9" "21974799" "21974799" "subst" "0" "04599" "CDKN2A_000206" "g.21974799C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21974800C>A" "" "pathogenic" "ACMG" "0000965359" "0" "70" "9" "21971156" "21971156" "subst" "0" "01804" "CDKN2A_000072" "g.21971156C>G" "" "" "" "CDKN2A(NM_000077.4):c.202G>C (p.(Ala68Pro)), CDKN2A(NM_000077.5):c.202G>C (p.A68P), CDKN2A(NM_058195.4):c.245G>C (p.R82P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000965360" "0" "50" "9" "21971156" "21971156" "subst" "0" "02329" "CDKN2A_000072" "g.21971156C>G" "" "" "" "CDKN2A(NM_000077.4):c.202G>C (p.(Ala68Pro)), CDKN2A(NM_000077.5):c.202G>C (p.A68P), CDKN2A(NM_058195.4):c.245G>C (p.R82P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978658" "0" "30" "9" "21974637" "21974637" "subst" "0" "01804" "CDKN2A_000185" "g.21974637G>A" "" "" "" "CDKN2A(NM_000077.4):c.150+40C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978659" "0" "50" "9" "21974816" "21974816" "subst" "1.80504E-5" "02329" "CDKN2A_000207" "g.21974816G>C" "" "" "" "CDKN2A(NM_000077.5):c.11C>G (p.A4G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978660" "0" "30" "9" "21974859" "21974859" "subst" "0.0012018" "01804" "CDKN2A_000155" "g.21974859C>G" "" "" "" "CDKN2A(NM_000077.4):c.-33G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978661" "0" "10" "9" "21975017" "21975017" "subst" "0" "02327" "CDKN2A_000208" "g.21975017C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000997816" "0" "70" "9" "21971024" "21971024" "subst" "0" "01804" "CDKN2A_000116" "g.21971024G>C" "" "" "" "CDKN2A(NM_000077.4):c.334C>G (p.(Arg112Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000997817" "0" "90" "9" "21974679" "21974679" "subst" "0" "01804" "CDKN2A_000042" "g.21974679G>A" "" "" "" "CDKN2A(NM_000077.4):c.148C>T (p.(Gln50Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000997818" "0" "50" "9" "21974921" "21974921" "subst" "0" "01804" "CDKN2A_000156" "g.21974921C>T" "" "" "" "CDKN2A(NM_000077.4):c.-95G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014526" "0" "70" "9" "21971164" "21971164" "subst" "0" "01804" "CDKN2A_000065" "g.21971164A>G" "" "" "" "CDKN2A(NM_000077.4):c.194T>C (p.(Leu65Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001014527" "0" "90" "9" "21974684" "21974684" "subst" "0" "02325" "CDKN2A_000038" "g.21974684G>A" "" "" "" "CDKN2A(NM_000077.5):c.143C>T (p.P48L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001017802" "0" "90" "9" "21994139" "21994139" "subst" "0" "03779" "CDKN2A_000209" "g.21994139T>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs1554659172" "0" "" "" "" "" "pathogenic" "" "0001025654" "0" "90" "9" "21970971" "21970971" "subst" "0" "02327" "CDKN2A_000210" "g.21970971G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001025655" "0" "70" "9" "21971006" "21971006" "subst" "0" "02327" "CDKN2A_000123" "g.21971006C>T" "" "" "" "CDKN2A(NM_000077.4):c.352G>A (p.(Ala118Thr)), CDKN2A(NM_001195132.2):c.352G>A (p.A118T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001025656" "0" "90" "9" "21971122" "21971140" "del" "0" "02369" "CDKN2A_000079" "g.21971122_21971140del" "" "" "" "CDKN2A(NM_000077.4):c.225_243del (p.(Ala76Cysfs*64)), CDKN2A(NM_000077.4):c.225_243delCGCCACTCTCACCCGACCC (p.A76Cfs*64), CDKN2A(NM_001195132.1):c.2..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001025657" "0" "70" "9" "21971159" "21971159" "subst" "4.77683E-6" "02369" "CDKN2A_000067" "g.21971159C>T" "" "" "" "CDKN2A(NM_000077.4):c.199G>A (p.G67S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001025658" "0" "70" "9" "21974678" "21974678" "subst" "4.08951E-6" "01804" "CDKN2A_000044" "g.21974678T>C" "" "" "" "CDKN2A(NM_000077.4):c.149A>G (p.(Gln50Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001025659" "0" "70" "9" "21974819" "21974842" "dup" "0" "02369" "CDKN2A_000002" "g.21974819_21974842dup" "" "" "" "CDKN2A(NM_000077.4):c.9_32dupGGCGGCGGGGAGCAGCATGGAGCC (p.A4_P11dup), CDKN2A(NM_001195132.1):c.9_32dupGGCGGCGGGGAGCAGCATGGAGCC (p.A4_P11dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001029895" "0" "70" "9" "21974724" "21974741" "del" "0" "03779" "CDKN2A_000211" "g.21974724_21974741del" "" "" "" "" "" "CLASSIFICATION record" "" "rs1819949737" "0" "" "" "" "" "likely pathogenic" "" "0001029901" "0" "70" "9" "21974748" "21974748" "subst" "0" "03779" "CDKN2A_000018" "g.21974748C>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs1554656411" "0" "" "" "" "" "likely pathogenic" "" "0001030032" "0" "70" "9" "21974772" "21974776" "del" "0" "03779" "CDKN2A_000213" "g.21974772_21974776del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001030033" "0" "50" "9" "21974759" "21974759" "subst" "0" "03779" "CDKN2A_000212" "g.21974759C>A" "" "" "" "" "" "Unknown" "" "rs1064794292" "0" "" "" "" "" "VUS" "" "0001030917" "0" "50" "9" "21971040" "21971040" "subst" "0.000219659" "03779" "CDKN2A_000111" "g.21971040C>T" "" "" "" "" "" "Unknown" "" "rs199888003" "0" "" "" "" "" "VUS" "" "0001037465" "0" "90" "9" "21974796" "21974797" "ins" "0" "01804" "CDKN2A_000214" "g.21974796_21974797insGCTCCATGCTGCTCCCCGCCGCCG" "" "" "" "CDKN2A(NM_000077.5):c.9_32dup (p.(Ala4_Pro11dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001044623" "0" "70" "9" "21974732" "21974749" "del" "0" "03779" "CDKN2A_000215" "g.21974732_21974749del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001045029" "0" "90" "9" "21971196" "21971196" "del" "0" "03779" "CDKN2A_000217" "g.21971196del" "" "" "" "" "" "Unknown" "" "rs2131096583" "0" "" "" "" "" "pathogenic" "" "0001045032" "0" "70" "9" "21971016" "21971026" "del" "0" "03779" "CDKN2A_000216" "g.21971016_21971026del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001046195" "0" "70" "9" "21971155" "21971155" "subst" "0" "02325" "CDKN2A_000074" "g.21971155G>A" "" "" "" "CDKN2A(NM_000077.5):c.203C>T (p.A68V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001046196" "0" "70" "9" "21971179" "21971179" "subst" "0" "01804" "CDKN2A_000059" "g.21971179G>A" "" "" "" "CDKN2A(NM_000077.4):c.179C>T (p.(Ala60Val)), CDKN2A(NM_000077.5):c.179C>T (p.A60V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001046197" "0" "50" "9" "21994178" "21994178" "subst" "0" "02325" "CDKN2A_000218" "g.21994178C>A" "" "" "" "CDKN2A(NM_058195.4):c.153G>T (p.R51S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001048134" "0" "90" "9" "21971000" "21971000" "subst" "0" "03779" "chr9_008320" "g.21971000C>A" "" "" "" "" "" "Unknown" "" "rs1819691962" "0" "" "" "" "" "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 CDKN2A ## Count = 1086 "{{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}}" "0000076111" "00004876" "90" "142" "0" "142" "0" "c.142C>A" "r.(?)" "p.(Pro48Thr)" "1a" "0000076111" "00024207" "90" "194" "-3478" "194" "-3478" "c.194-3478C>A" "r.(?)" "p.(=)" "1i" "0000148782" "00004876" "50" "458" "-491" "458" "-491" "c.458-491C>T" "r.(?)" "p.(=)" "2i" "0000148782" "00024207" "50" "501" "-491" "501" "-491" "c.*102-491C>T" "r.(?)" "p.(=)" "2i" "0000148783" "00004876" "50" "442" "0" "442" "0" "c.442G>A" "r.(?)" "p.(Ala148Thr)" "2" "0000148783" "00024207" "50" "485" "0" "485" "0" "c.*86G>A" "r.(?)" "p.(=)" "2" "0000148784" "00004876" "50" "442" "0" "442" "0" "c.442G>A" "r.(?)" "p.(Ala148Thr)" "2" "0000148784" "00024207" "50" "485" "0" "485" "0" "c.*86G>A" "r.(?)" "p.(=)" "2" "0000148785" "00004876" "50" "430" "0" "430" "0" "c.430C>T" "r.(?)" "p.(Arg144Cys)" "2" "0000148785" "00024207" "50" "473" "0" "473" "0" "c.*74C>T" "r.(?)" "p.(=)" "2" "0000148786" "00004876" "50" "379" "0" "379" "0" "c.379G>T" "r.(?)" "p.(Ala127Ser)" "2" "0000148786" "00024207" "50" "422" "0" "422" "0" "c.*23G>T" "r.(?)" "p.(=)" "2" "0000148787" "00004876" "50" "373" "0" "373" "0" "c.373G>C" "r.(?)" "p.(Asp125His)" "2" "0000148787" "00024207" "50" "416" "0" "416" "0" "c.*17G>C" "r.(?)" "p.(=)" "2" "0000148788" "00004876" "50" "373" "0" "373" "0" "c.373G>C" "r.(?)" "p.(Asp125His)" "2" "0000148788" "00024207" "50" "416" "0" "416" "0" "c.*17G>C" "r.(?)" "p.(=)" "2" "0000148789" "00004876" "50" "369" "0" "369" "0" "c.369T>A" "r.(?)" "p.(His123Gln)" "2" "0000148789" "00024207" "50" "412" "0" "412" "0" "c.*13T>A" "r.(?)" "p.(=)" "2" "0000148790" "00004876" "50" "365" "0" "365" "0" "c.365G>T" "r.(?)" "p.(Gly122Val)" "2" "0000148790" "00024207" "50" "408" "0" "408" "0" "c.*9G>T" "r.(?)" "p.(=)" "2" "0000148791" "00004876" "50" "318" "0" "318" "0" "c.318G>A" "r.(?)" "p.(=)" "2" "0000148791" "00024207" "50" "361" "0" "361" "0" "c.361G>A" "r.(?)" "p.(Ala121Thr)" "2" "0000148792" "00004876" "50" "150" "82" "150" "82" "c.150+82A>G" "r.(?)" "p.(=)" "1i" "0000148792" "00024207" "50" "194" "-3388" "194" "-3388" "c.194-3388A>G" "r.(?)" "p.(=)" "1i" "0000148793" "00004876" "50" "150" "37" "150" "37" "c.150+37G>C" "r.(?)" "p.(=)" "1i" "0000148793" "00024207" "50" "194" "-3433" "194" "-3433" "c.194-3433G>C" "r.(?)" "p.(=)" "1i" "0000148794" "00004876" "50" "-19462" "0" "-19462" "0" "c.-19462T>C" "-" "-" "_1" "0000148794" "00024207" "50" "43" "0" "43" "0" "c.43T>C" "r.(?)" "p.(Cys15Arg)" "1b" "0000148795" "00004876" "50" "-19513" "0" "-19513" "0" "c.-19513G>A" "-" "-" "_1" "0000148795" "00024207" "50" "-9" "0" "-9" "0" "c.-9G>A" "r.(?)" "p.(=)" "1b" "0000149156" "00004876" "50" "442" "0" "442" "0" "c.442G>A" "r.(?)" "p.(Ala148Thr)" "2" "0000149156" "00024207" "50" "485" "0" "485" "0" "c.*86G>A" "r.(?)" "p.(=)" "2" "0000178814" "00004876" "55" "-33" "0" "-33" "0" "c.-33G>C" "r.(?)" "p.(=)" "1" "0000178814" "00024207" "55" "194" "-3652" "194" "-3652" "c.194-3652G>C" "" "p.(=)" "" "0000178815" "00004876" "55" "10" "0" "10" "0" "c.10G>A" "r.(?)" "p.(Ala4Thr)" "1a" "0000178815" "00024207" "00" "194" "-3610" "194" "-3610" "c.194-3610G>A" "r.(=)" "p.(=)" "" "0000178816" "00004876" "55" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.His83Tyr" "2" "0000178816" "00024207" "55" "290" "0" "290" "0" "c.290C>T" "r.(?)" "p.(Ala97Val)" "" "0000178817" "00004876" "55" "249" "0" "249" "0" "c.249C>A" "r.(?)" "p.His83Gln" "2" "0000178817" "00024207" "55" "292" "0" "292" "0" "c.292C>A" "r.(=)" "p.(=)" "" "0000178818" "00004876" "55" "250" "0" "250" "0" "c.250G>T" "r.(?)" "p.Asp84Tyr" "2" "0000178818" "00024207" "55" "293" "0" "293" "0" "c.293G>T" "r.(?)" "p.(Arg98Leu)" "" "0000178819" "00004876" "10" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.Ala85Thr" "2" "0000178819" "00024207" "10" "296" "0" "296" "0" "c.296G>A" "r.(?)" "p.(Arg99His)" "" "0000178820" "00004876" "55" "259" "0" "259" "0" "c.259C>G" "r.(?)" "p.Arg87Gly" "2" "0000178820" "00024207" "55" "302" "0" "302" "0" "c.302C>G" "r.(?)" "p.(Pro101Arg)" "" "0000178821" "00004876" "55" "259" "0" "259" "0" "c.259C>T" "r.(?)" "p.Arg87Trp" "2" "0000178821" "00024207" "55" "302" "0" "302" "0" "c.302C>T" "r.(?)" "p.(Pro101Leu)" "" "0000178822" "00004876" "90" "260" "0" "260" "0" "c.260G>C" "r.(?)" "p.Arg87Pro" "2" "0000178822" "00024207" "90" "303" "0" "303" "0" "c.303G>C" "r.(=)" "p.(=)" "" "0000178823" "00004876" "55" "262" "0" "262" "0" "c.262del" "r.(?)" "p.Glu88fs" "2" "0000178823" "00024207" "55" "305" "0" "305" "0" "c.305del" "r.(?)" "p.(Gly102GlufsTer70)" "" "0000178824" "00004876" "10" "267" "0" "267" "0" "c.267C>A" "r.(?)" "p.= (Gly89)" "2" "0000178824" "00024207" "10" "310" "0" "310" "0" "c.310C>A" "r.(?)" "p.(Leu104Ile)" "" "0000178825" "00004876" "55" "281" "0" "281" "0" "c.281T>A" "r.(?)" "p.Leu94Gln" "2" "0000178825" "00024207" "55" "324" "0" "324" "0" "c.324T>A" "r.(=)" "p.(=)" "" "0000178826" "00004876" "55" "18" "0" "19" "0" "c.18_19ins(6)" "r.(?)" "p.?" "1a" "0000178827" "00004876" "75" "281" "0" "281" "0" "c.281T>A" "r.(?)" "p.Leu94Gln" "2" "0000178827" "00024207" "75" "324" "0" "324" "0" "c.324T>A" "r.(=)" "p.(Ala108=)" "" "0000178828" "00004876" "70" "281" "0" "281" "0" "c.281T>A" "r.(?)" "p.Leu94Gln" "2" "0000178828" "00024207" "70" "324" "0" "324" "0" "c.324T>A" "r.(=)" "p.(Ala108=)" "" "0000178829" "00004876" "55" "281" "0" "281" "0" "c.281T>C" "r.(?)" "p.Leu94Pro" "2" "0000178829" "00024207" "55" "324" "0" "324" "0" "c.324T>C" "r.(=)" "p.(=)" "" "0000178830" "00004876" "90" "283" "0" "283" "0" "c.283dup" "r.(?)" "p.Val95fs" "2" "0000178830" "00024207" "90" "326" "0" "326" "0" "c.326dup" "r.(?)" "p.(Gly110Trpfs*51)" "" "0000178831" "00004876" "10" "284" "0" "284" "0" "c.284T>A" "r.(?)" "p.Val95Glu" "2" "0000178831" "00024207" "10" "327" "0" "327" "0" "c.327T>A" "r.(=)" "p.(=)" "" "0000178832" "00004876" "90" "287" "0" "298" "0" "c.287_298del" "r.(?)" "p.Val96_Arg99del" "2" "0000178832" "00024207" "90" "330" "0" "341" "0" "c.330_341del" "r.(?)" "p.(Ala111_Gly114del)" "" "0000178833" "00004876" "55" "290" "0" "290" "0" "c.290T>C" "r.(?)" "p.Leu97Arg" "2" "0000178833" "00024207" "55" "333" "0" "333" "0" "c.333T>C" "r.(=)" "p.(=)" "" "0000178834" "00004876" "55" "295" "0" "295" "0" "c.295C>T" "r.(?)" "p.Arg99Trp" "2" "0000178834" "00024207" "55" "338" "0" "338" "0" "c.338C>T" "r.(?)" "p.(Pro113Leu)" "" "0000178835" "00004876" "55" "296" "0" "296" "0" "c.296G>C" "r.(?)" "p.Arg99Pro" "2" "0000178835" "00024207" "55" "339" "0" "339" "0" "c.339G>C" "r.(=)" "p.(=)" "" "0000178836" "00004876" "55" "298" "0" "298" "0" "c.298G>T" "r.(?)" "p.Ala100Ser" "2" "0000178836" "00024207" "55" "341" "0" "341" "0" "c.341G>T" "r.(?)" "p.(Gly114Val)" "" "0000178837" "00004876" "59" "19" "0" "23" "0" "c.19_23dup" "r.(?)" "p.Ser8fs" "1a" "0000178837" "00024207" "59" "194" "-3601" "194" "-3597" "c.194-3601_194-3597dup" "r.(=)" "p.(=)" "" "0000178838" "00004876" "90" "301" "0" "301" "0" "c.301G>T" "r.(?)" "p.Gly101Trp" "2" "0000178838" "00024207" "90" "344" "0" "344" "0" "c.344G>T" "r.(?)" "p.(Arg115Leu)" "" "0000178839" "00004876" "55" "304" "0" "304" "0" "c.304G>A" "r.(?)" "p.Ala102Thr" "2" "0000178839" "00024207" "55" "347" "0" "347" "0" "c.347G>A" "r.(?)" "p.(Gly116Asp)" "" "0000178840" "00004876" "55" "306" "0" "306" "0" "c.306G>A" "r.(?)" "p.= (Ala102)" "2" "0000178840" "00024207" "55" "349" "0" "349" "0" "c.349G>A" "r.(?)" "p.(Ala117Thr)" "" "0000178841" "00004876" "90" "307" "0" "308" "0" "c.307_308del" "r.(?)" "p.Arg103fs" "2" "0000178841" "00024207" "90" "350" "0" "351" "0" "c.350_351del" "r.(?)" "p.(Ala117Glyfs*43)" "" "0000178842" "00004876" "55" "310" "0" "315" "0" "c.310_315del" "r.(?)" "p.Leu104_Asp105del" "2" "0000178842" "00024207" "55" "353" "0" "358" "0" "c.353_358del" "r.(?)" "p.(Ala118_Arg120delinsGly)" "" "0000178843" "00004876" "10" "315" "0" "315" "0" "c.315C>A" "r.(?)" "p.Asp105Glu" "2" "0000178843" "00024207" "10" "358" "0" "358" "0" "c.358C>A" "r.(?)" "p.(Arg120Ser)" "" "0000178844" "00004876" "53" "318" "0" "318" "0" "c.318G>A" "r.(?)" "p.p.(Val106=)" "2" "0000178844" "00024207" "53" "361" "0" "361" "0" "c.361G>A" "r.(?)" "p.(Ala121Thr)" "" "0000178845" "00004876" "55" "318" "0" "318" "0" "c.318G>A" "r.(?)" "p.p.(Val106=)" "2" "0000178845" "00024207" "55" "361" "0" "361" "0" "c.361G>A" "r.(?)" "p.(Ala121Thr)" "" "0000178846" "00004876" "53" "318" "0" "318" "0" "c.318G>A" "r.(?)" "p.p.(Val106=)" "2" "0000178846" "00024207" "53" "361" "0" "361" "0" "c.361G>A" "r.(?)" "p.(Ala121Thr)" "" "0000178847" "00004876" "55" "318" "0" "318" "0" "c.318G>A" "r.(?)" "p.p.(Val106=)" "2" "0000178847" "00024207" "55" "361" "0" "361" "0" "c.361G>A" "r.(?)" "p.(Ala121Thr)" "" "0000178848" "00004876" "90" "44" "0" "44" "0" "c.44G>A" "r.(?)" "p.Trp15X" "1a" "0000178848" "00024207" "90" "194" "-3576" "194" "-3576" "c.194-3576G>A" "r.(=)" "p.(=)" "" "0000178849" "00004876" "55" "318" "0" "318" "0" "c.318G>A" "r.(?)" "p.p.(Val106=)" "2" "0000178849" "00024207" "55" "361" "0" "361" "0" "c.361G>A" "r.(?)" "p.(Ala121Thr)" "" "0000178850" "00004876" "55" "318" "0" "318" "0" "c.318G>A" "r.(?)" "p.p.(Val106=)" "2" "0000178850" "00024207" "55" "361" "0" "361" "0" "c.361G>A" "r.(?)" "p.(Ala121Thr)" "" "0000178851" "00004876" "55" "319" "0" "319" "0" "c.319C>T" "r.(?)" "p.Arg107Cys" "2" "0000178851" "00024207" "55" "362" "0" "362" "0" "c.362C>T" "r.(?)" "p.(Ala121Val)" "" "0000178852" "00004876" "55" "322" "0" "322" "0" "c.322G>A" "r.(?)" "p.Asp108Asn" "2" "0000178852" "00024207" "55" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Arg122Gln)" "" "0000178853" "00004876" "55" "330" "0" "330" "0" "c.330G>A" "r.(?)" "p.Trp110X" "2" "0000178853" "00024207" "55" "373" "0" "373" "0" "c.373G>A" "r.(?)" "p.(Gly125Arg)" "" "0000178854" "00004876" "90" "335" "0" "337" "0" "c.335_337dup" "r.(?)" "p.(Arg112dup)" "2" "0000178854" "00024207" "90" "378" "0" "380" "0" "c.378_380dup" "r.(?)" "p.(Ser127dup)" "" "0000178855" "00004876" "55" "334" "0" "334" "0" "c.334C>G" "r.(?)" "p.Arg112Gly" "2" "0000178855" "00024207" "55" "377" "0" "377" "0" "c.377C>G" "r.(?)" "p.(Pro126Arg)" "" "0000178856" "00004876" "55" "335" "0" "335" "0" "c.335G>A" "r.(?)" "p.Arg112His" "2" "0000178856" "00024207" "55" "378" "0" "378" "0" "c.378G>A" "r.(=)" "p.(=)" "" "0000178857" "00004876" "10" "339" "0" "339" "0" "c.339G>A" "r.(?)" "p.= (Leu113)" "2" "0000178857" "00024207" "10" "382" "0" "382" "0" "c.382G>A" "r.(?)" "p.(Ala128Thr)" "" "0000178858" "00004876" "55" "340" "0" "340" "0" "c.340C>T" "r.(?)" "p.Pro114Ser" "2" "0000178858" "00024207" "55" "383" "0" "383" "0" "c.383C>T" "r.(?)" "p.(Ala128Val)" "" "0000178859" "00004876" "90" "45" "0" "45" "0" "c.45G>A" "r.(?)" "p.Trp15X" "1a" "0000178859" "00024207" "90" "194" "-3575" "194" "-3575" "c.194-3575G>A" "r.(=)" "p.(=)" "" "0000178860" "00004876" "55" "341" "0" "341" "0" "c.341C>T" "r.(?)" "p.Pro114Leu" "2" "0000178860" "00024207" "55" "384" "0" "384" "0" "c.384C>T" "r.(=)" "p.(=)" "" "0000178861" "00004876" "55" "344" "0" "344" "0" "c.344T>G" "r.(?)" "p.Val115Gly" "2" "0000178861" "00024207" "55" "387" "0" "387" "0" "c.387T>G" "r.(=)" "p.(=)" "" "0000178862" "00004876" "90" "159" "0" "159" "0" "c.159G>C" "r.(?)" "p.(Met53Ile)" "2" "0000178862" "00024207" "90" "202" "0" "202" "0" "c.202G>C" "r.(?)" "p.(Asp68His)" "" "0000178863" "00004876" "55" "352" "0" "352" "0" "c.352G>A" "r.(?)" "p.Ala118Thr" "2" "0000178863" "00024207" "55" "395" "0" "395" "0" "c.395G>A" "r.(?)" "p.(Gly132Asp)" "" "0000178864" "00004876" "55" "353" "0" "353" "0" "c.353C>T" "r.(?)" "p.Ala118Val" "2" "0000178864" "00024207" "55" "396" "0" "396" "0" "c.396C>T" "r.(=)" "p.(=)" "" "0000178865" "00004876" "90" "358" "0" "358" "0" "c.358del" "r.(?)" "p.Glu120fs" "2" "0000178865" "00024207" "90" "401" "0" "401" "0" "c.*2del" "r.(=)" "p.(=)" "" "0000178866" "00004876" "55" "365" "0" "365" "0" "c.365G>T" "r.(?)" "p.Gly122Val" "2" "0000178866" "00024207" "55" "408" "0" "408" "0" "c.*9G>T" "r.(=)" "p.(=)" "" "0000178867" "00004876" "55" "369" "0" "369" "0" "c.369T>C" "r.(?)" "p.= (His123)" "2" "0000178867" "00024207" "55" "412" "0" "412" "0" "c.*13T>C" "r.(=)" "p.(=)" "" "0000178868" "00004876" "55" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.Arg124Cys" "2" "0000178868" "00024207" "55" "413" "0" "413" "0" "c.*14C>T" "r.(=)" "p.(=)" "" "0000178869" "00004876" "55" "373" "0" "373" "0" "c.373G>C" "r.(?)" "p.Asp125His" "2" "0000178869" "00024207" "55" "416" "0" "416" "0" "c.*17G>C" "r.(=)" "p.(=)" "" "0000178870" "00004876" "90" "46" "0" "46" "0" "c.46del" "r.(?)" "p.(Leu16TrpfsTer10)" "1a" "0000178870" "00024207" "90" "194" "-3574" "194" "-3574" "c.194-3574del" "r.(=)" "p.(=)" "" "0000178871" "00004876" "90" "377" "0" "377" "0" "c.377T>A" "r.(?)" "p.Val126Asp" "2" "0000178871" "00024207" "90" "420" "0" "420" "0" "c.*21T>A" "r.(=)" "p.(=)" "" "0000178872" "00004876" "55" "379" "0" "379" "0" "c.379G>C" "r.(?)" "p.Ala127Pro" "2" "0000178872" "00024207" "55" "422" "0" "422" "0" "c.*23G>C" "r.(=)" "p.(=)" "" "0000178873" "00004876" "99" "379" "0" "379" "0" "c.379G>T" "r.(?)" "p.Ala127Ser" "2" "0000178873" "00024207" "99" "422" "0" "422" "0" "c.*23G>T" "r.(=)" "p.(=)" "" "0000178874" "00004876" "55" "384" "0" "384" "0" "c.384G>A" "r.(?)" "p.= (Arg128)" "2" "0000178874" "00024207" "55" "427" "0" "427" "0" "c.*28G>A" "r.(=)" "p.(=)" "" "0000178875" "00004876" "55" "385" "0" "386" "0" "c.385_386del" "r.(?)" "p.Tyr129fs" "2" "0000178875" "00024207" "55" "428" "0" "429" "0" "c.*29_*30del" "r.(=)" "p.(=)" "" "0000178876" "00004876" "55" "388" "0" "388" "0" "c.388C>G" "r.(?)" "p.Leu130Val" "2" "0000178876" "00024207" "55" "431" "0" "431" "0" "c.*32C>G" "r.(=)" "p.(=)" "" "0000178877" "00004876" "55" "392" "0" "392" "0" "c.392G>C" "r.(?)" "p.Arg131Pro" "2" "0000178877" "00024207" "55" "435" "0" "435" "0" "c.*36G>C" "r.(=)" "p.(=)" "" "0000178878" "00004876" "55" "405" "0" "405" "0" "c.405G>A" "r.(?)" "p.= (Gly135)" "2" "0000178878" "00024207" "55" "448" "0" "448" "0" "c.*49G>A" "r.(=)" "p.(=)" "" "0000178879" "00004876" "55" "413" "0" "413" "0" "c.413G>C" "r.(?)" "p.Arg138Thr" "2" "0000178879" "00024207" "55" "456" "0" "456" "0" "c.*57G>C" "r.(=)" "p.(=)" "" "0000178880" "00004876" "10" "427" "0" "427" "0" "c.427G>A" "r.(?)" "p.Ala143Thr" "2" "0000178880" "00024207" "10" "470" "0" "470" "0" "c.*71G>A" "r.(=)" "p.(=)" "" "0000178881" "00004876" "55" "47" "0" "47" "0" "c.47T>C" "r.(?)" "p.Leu16Pro" "1a" "0000178881" "00024207" "55" "194" "-3573" "194" "-3573" "c.194-3573T>C" "r.(=)" "p.(=)" "" "0000178882" "00004876" "55" "442" "0" "442" "0" "c.442G>A" "r.(?)" "p.Ala148Thr" "2" "0000178882" "00024207" "55" "485" "0" "485" "0" "c.*86G>A" "r.(=)" "p.(=)" "" "0000178883" "00004876" "90" "457" "0" "457" "0" "c.457G>T" "r.(?)" "p.Asp153Tyr" "2" "0000178883" "00024207" "90" "500" "0" "500" "0" "c.*101G>T" "r.(=)" "p.(=)" "" "0000178884" "00004876" "90" "457" "1" "457" "1" "c.457+1G>T" "r.spl" "p.?" "2i" "0000178884" "00024207" "90" "500" "1" "500" "1" "c.*101+1G>T" "r.spl?" "p.?" "" "0000178885" "00004876" "55" "457" "83" "457" "83" "c.457+83C>T" "r.(?)" "p.(=)" "2i" "0000178885" "00024207" "55" "500" "83" "500" "83" "c.*101+83C>T" "r.(=)" "p.(=)" "" "0000178886" "00004876" "55" "457" "227" "457" "227" "c.457+227A>G" "r.(?)" "p.(=)" "2i" "0000178886" "00024207" "55" "500" "227" "500" "227" "c.*101+227A>G" "r.(=)" "p.(=)" "" "0000178887" "00004876" "10" "457" "474" "457" "474" "c.457+474T>C" "r.(?)" "p.(=)" "2i" "0000178887" "00024207" "10" "500" "474" "500" "474" "c.*101+474T>C" "r.(=)" "p.(=)" "" "0000178888" "00004876" "55" "457" "678" "457" "678" "c.457+678T>C" "r.(?)" "p.(=)" "2i" "0000178888" "00024207" "55" "500" "678" "500" "678" "c.*101+678T>C" "r.(=)" "p.(=)" "" "0000178889" "00004876" "55" "458" "-278" "458" "-278" "c.458-278C>T" "r.(?)" "p.(=)" "2i" "0000178889" "00024207" "55" "501" "-278" "501" "-278" "c.*102-278C>T" "r.(=)" "p.(=)" "" "0000178890" "00004876" "90" "458" "-105" "458" "-105" "c.458-105A>G" "r.(?)" "p.(=)" "2i" "0000178890" "00024207" "90" "501" "-105" "501" "-105" "c.*102-105A>G" "r.(=)" "p.(=)" "" "0000178891" "00004876" "55" "458" "-89" "458" "-89" "c.458-89C>T" "r.(?)" "p.(=)" "2i" "0000178891" "00024207" "55" "501" "-89" "501" "-89" "c.*102-89C>T" "r.(=)" "p.(=)" "" "0000178892" "00004876" "55" "47" "0" "47" "0" "c.47T>G" "r.(?)" "p.Leu16Arg" "1a" "0000178892" "00024207" "55" "194" "-3573" "194" "-3573" "c.194-3573T>G" "r.(=)" "p.(=)" "" "0000178893" "00004876" "55" "458" "-60" "458" "-60" "c.458-60A>T" "r.(?)" "p.(=)" "2i" "0000178893" "00024207" "55" "501" "-60" "501" "-60" "c.*102-60A>T" "r.(=)" "p.(=)" "" "0000178894" "00004876" "10" "500" "0" "500" "0" "c.*29C>G" "r.(?)" "p.?" "3" "0000178894" "00024207" "10" "543" "0" "543" "0" "c.*144C>G" "" "" "" "0000178895" "00004876" "10" "540" "0" "540" "0" "c.*69C>T" "r.(?)" "p.(=)" "3" "0000178895" "00024207" "10" "583" "0" "583" "0" "c.*184C>T" "r.(=)" "p.(=)" "" "0000178896" "00004876" "90" "52" "0" "57" "0" "c.52_57dup" "r.(?)" "p.Thr18_Ala19dup" "1a" "0000178896" "00024207" "90" "194" "-3568" "194" "-3563" "c.194-3568_194-3563dup" "r.(=)" "p.(=)" "" "0000178897" "00004876" "55" "67" "0" "67" "0" "c.67G>A" "r.(?)" "p.Gly23Ser" "1a" "0000178897" "00024207" "55" "194" "-3553" "194" "-3553" "c.194-3553G>A" "r.(=)" "p.(=)" "" "0000178898" "00004876" "59" "-19664" "0" "948" "0" "c.(?_-19664)_(*477_?)del" "r.0" "p.0" "1" "0000178899" "00004876" "55" "67" "0" "67" "0" "c.67G>C" "r.(?)" "p.Gly23Arg" "1a" "0000178899" "00024207" "55" "194" "-3553" "194" "-3553" "c.194-3553G>C" "r.(=)" "p.(=)" "" "0000178900" "00004876" "55" "67" "0" "67" "0" "c.67G>T" "r.(?)" "p.(Gly23Cys)" "1a" "0000178900" "00024207" "55" "194" "-3553" "194" "-3553" "c.194-3553G>T" "r.(=)" "p.(=)" "" "0000178901" "00004876" "55" "68" "0" "68" "0" "c.68G>A" "r.(?)" "p.Gly23Asp" "1a" "0000178901" "00024207" "55" "194" "-3552" "194" "-3552" "c.194-3552G>A" "r.(=)" "p.(=)" "" "0000178902" "00004876" "55" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.Arg24Gln" "1a" "0000178902" "00024207" "55" "194" "-3549" "194" "-3549" "c.194-3549G>A" "r.(=)" "p.(=)" "" "0000178903" "00004876" "55" "71" "0" "71" "0" "c.71G>C" "r.(?)" "p.Arg24Pro" "1a" "0000178903" "00024207" "55" "194" "-3549" "194" "-3549" "c.194-3549G>C" "r.(=)" "p.(=)" "" "0000178904" "00004876" "90" "79" "0" "79" "0" "c.79G>T" "r.(?)" "p.Glu27X" "1a" "0000178904" "00024207" "90" "194" "-3541" "194" "-3541" "c.194-3541G>T" "r.(=)" "p.(=)" "" "0000178905" "00004876" "90" "83" "0" "83" "0" "c.83dup" "r.(?)" "p.(Arg29AlafsTer15)" "1a" "0000178905" "00024207" "90" "194" "-3537" "194" "-3537" "c.194-3537dup" "r.(=)" "p.(=)" "" "0000178906" "00004876" "55" "83" "0" "83" "0" "c.83T>G" "r.(?)" "p.(Val28Gly)" "1a" "0000178906" "00024207" "55" "194" "-3537" "194" "-3537" "c.194-3537T>G" "r.(=)" "p.(=)" "" "0000178907" "00004876" "90" "88" "0" "88" "0" "c.88del" "r.(?)" "p.Ala30fs" "1a" "0000178907" "00024207" "90" "194" "-3532" "194" "-3532" "c.194-3532del" "r.(=)" "p.(=)" "" "0000178908" "00004876" "55" "95" "0" "95" "0" "c.95T>C" "r.(?)" "p.Leu32Pro" "1a" "0000178908" "00024207" "55" "194" "-3525" "194" "-3525" "c.194-3525T>C" "r.(=)" "p.(=)" "" "0000178909" "00004876" "11" "-19311" "0" "-19311" "0" "c.-19311G>A" "r.(?)" "p.?" "1b" "0000178909" "00024207" "99" "193" "1" "193" "1" "c.193+1G>A" "r.spl?" "p.?" "" "0000178910" "00004876" "55" "101" "0" "102" "0" "c.101_102del" "r.(?)" "p.Ala34fs" "1a" "0000178910" "00024207" "55" "194" "-3519" "194" "-3518" "c.194-3519_194-3518del" "r.(=)" "p.(=)" "" "0000178911" "00004876" "90" "104" "0" "104" "0" "c.104G>C" "r.(?)" "p.Gly35Ala" "1a" "0000178911" "00024207" "90" "194" "-3516" "194" "-3516" "c.194-3516G>C" "r.(=)" "p.(=)" "" "0000178912" "00004876" "55" "105" "0" "105" "0" "c.105G>A" "r.(?)" "p.= (p.Gly35)" "1a" "0000178912" "00024207" "55" "194" "-3515" "194" "-3515" "c.194-3515G>A" "r.(=)" "p.(=)" "" "0000178913" "00004876" "55" "106" "0" "106" "0" "c.106G>C" "r.(?)" "p.Ala36Pro" "1a" "0000178913" "00024207" "55" "194" "-3514" "194" "-3514" "c.194-3514G>C" "r.(=)" "p.(=)" "" "0000178914" "00004876" "55" "111" "0" "111" "0" "c.111G>T" "r.(?)" "p.= (p.Leu37)" "1a" "0000178914" "00024207" "55" "194" "-3509" "194" "-3509" "c.194-3509G>T" "r.(=)" "p.(=)" "" "0000178915" "00004876" "55" "112" "0" "112" "0" "c.112C>T" "r.(?)" "p.Pro38Ser" "1a" "0000178915" "00024207" "55" "194" "-3508" "194" "-3508" "c.194-3508C>T" "r.(=)" "p.(=)" "" "0000178916" "00004876" "55" "113" "0" "113" "0" "c.113C>G" "r.(?)" "p.Pro38Arg" "1a" "0000178916" "00024207" "55" "194" "-3507" "194" "-3507" "c.194-3507C>G" "r.(=)" "p.(=)" "" "0000178917" "00004876" "10" "120" "0" "120" "0" "c.120A>C" "r.(?)" "p.=" "1a" "0000178917" "00024207" "10" "194" "-3500" "194" "-3500" "c.194-3500A>C" "r.(=)" "p.(=)" "" "0000178918" "00004876" "10" "123" "0" "123" "0" "c.123G>A" "r.(?)" "p.=" "1a" "0000178918" "00024207" "10" "194" "-3497" "194" "-3497" "c.194-3497G>A" "r.(=)" "p.(=)" "" "0000178919" "00004876" "90" "131" "0" "131" "0" "c.131dup" "r.(?)" "p.Tyr44X" "1a" "0000178919" "00024207" "90" "194" "-3489" "194" "-3489" "c.194-3489dup" "r.(=)" "p.(=)" "" "0000178920" "00004876" "11" "-19311" "0" "-19311" "0" "c.-19311G>A" "r.(?)" "p.?" "1b" "0000178920" "00024207" "99" "193" "1" "193" "1" "c.193+1G>A" "r.spl?" "p.?" "" "0000178921" "00004876" "90" "131" "0" "132" "0" "c.131_132insAA" "r.(?)" "p.Tyr44X" "1a" "0000178921" "00024207" "90" "194" "-3489" "194" "-3488" "c.194-3489_194-3488insAA" "r.(=)" "p.(=)" "" "0000178922" "00004876" "90" "132" "0" "132" "0" "c.132C>A" "r.(?)" "p.Tyr44X" "1a" "0000178922" "00024207" "90" "194" "-3488" "194" "-3488" "c.194-3488C>A" "r.(=)" "p.(=)" "" "0000178923" "00004876" "90" "132" "0" "132" "0" "c.132C>G" "r.(?)" "p.Tyr44X" "1a" "0000178923" "00024207" "90" "194" "-3488" "194" "-3488" "c.194-3488C>G" "r.(=)" "p.(=)" "" "0000178924" "00004876" "55" "136" "0" "136" "0" "c.136C>A" "r.(?)" "p.= (p.Arg46)" "1a" "0000178924" "00024207" "55" "194" "-3484" "194" "-3484" "c.194-3484C>A" "r.(=)" "p.(=)" "" "0000178925" "00004876" "70" "142" "0" "142" "0" "c.142C>A" "r.(?)" "p.Pro48Thr" "1a" "0000178925" "00024207" "70" "194" "-3478" "194" "-3478" "c.194-3478C>A" "r.(=)" "p.(=)" "" "0000178926" "00004876" "55" "143" "0" "143" "0" "c.143C>A" "r.(?)" "p.Pro48Gln" "1a" "0000178926" "00024207" "55" "194" "-3477" "194" "-3477" "c.194-3477C>A" "r.(=)" "p.(=)" "" "0000178927" "00004876" "55" "143" "0" "143" "0" "c.143C>T" "r.(?)" "p.Pro48Leu" "1a" "0000178927" "00024207" "55" "194" "-3477" "194" "-3477" "c.194-3477C>T" "r.(=)" "p.(=)" "" "0000178928" "00004876" "55" "146" "0" "146" "0" "c.146T>C" "r.(?)" "p.Ile49Thr" "1a" "0000178928" "00024207" "55" "194" "-3474" "194" "-3474" "c.194-3474T>C" "r.(=)" "p.(=)" "" "0000178929" "00004876" "90" "146" "0" "146" "0" "c.146T>G" "r.(?)" "p.Ile49Ser" "1a" "0000178929" "00024207" "90" "194" "-3474" "194" "-3474" "c.194-3474T>G" "r.(=)" "p.(=)" "" "0000178930" "00004876" "55" "148" "0" "148" "0" "c.148C>T" "r.(?)" "p.Gln50X" "1a" "0000178930" "00024207" "55" "194" "-3472" "194" "-3472" "c.194-3472C>T" "r.(=)" "p.(=)" "" "0000178931" "00004876" "51" "-19311" "0" "-19311" "0" "c.-19311G>A" "r.(?)" "p.?" "1b" "0000178931" "00024207" "59" "193" "1" "193" "1" "c.193+1G>A" "r.spl?" "p.?" "" "0000178932" "00004876" "55" "149" "0" "149" "0" "c.149A>C" "r.(?)" "p.Gln50Pro" "1a" "0000178932" "00024207" "55" "194" "-3471" "194" "-3471" "c.194-3471A>C" "r.(=)" "p.(=)" "" "0000178933" "00004876" "55" "149" "0" "149" "0" "c.149A>G" "r.(?)" "p.Gln50Arg" "1a" "0000178933" "00024207" "55" "194" "-3471" "194" "-3471" "c.194-3471A>G" "r.(=)" "p.(=)" "" "0000178934" "00004876" "55" "151" "0" "151" "0" "c.151G>T" "r.spl?" "p.(Val51Phe)" "2" "0000178934" "00024207" "50" "194" "0" "194" "0" "c.194G>T" "r.(?)" "p.(Gly65Val)" "" "0000178935" "00004876" "55" "311" "0" "326" "0" "c.311_326del" "r.(?)" "p.(Leu104Profs*37)" "2" "0000178935" "00024207" "90" "354" "0" "369" "0" "c.354_369del" "r.(?)" "p.(Gly119Trpfs*48)" "" "0000178936" "00004876" "55" "206" "0" "206" "0" "c.206A>G" "r.(?)" "p.(Glu69Gly)" "2" "0000178936" "00024207" "50" "249" "0" "249" "0" "c.249A>G" "r.(=)" "p.(Gly83=)" "" "0000178937" "00004876" "55" "247" "0" "247" "0" "c.247C>A" "r.(?)" "p.(His83Asn)" "2" "0000178937" "00024207" "00" "290" "0" "290" "0" "c.290C>A" "r.(?)" "p.(Ala97Glu)" "" "0000178938" "00004876" "55" "266" "0" "266" "0" "c.266G>A" "r.(?)" "p.(Gly89Asp)" "2" "0000178938" "00024207" "50" "309" "0" "309" "0" "c.309G>A" "r.(=)" "p.(Gly143=)" "" "0000178939" "00004876" "55" "303" "0" "304" "0" "c.303_304insC" "r.(?)" "p.(Ala102Argfs*18)" "2" "0000178939" "00024207" "90" "346" "0" "347" "0" "c.346_347insC" "r.(?)" "p.(Gly116Alafs*45)" "" "0000178940" "00004876" "55" "151" "-2" "151" "-2" "c.151-2A>G" "r.spl" "p.?" "1i" "0000178940" "00024207" "55" "194" "-2" "194" "-2" "c.194-2A>G" "r.spl?" "p.?" "" "0000178941" "00004876" "70" "151" "-1" "151" "-1" "c.151-1G>A" "r.spl" "p.?" "1i" "0000178941" "00024207" "70" "194" "-1" "194" "-1" "c.194-1G>A" "r.spl?" "p.?" "" "0000178942" "00004876" "55" "-95" "0" "-95" "0" "c.-95G>A" "r.(?)" "p.(=)" "1a" "0000178942" "00024207" "55" "194" "-3714" "194" "-3714" "c.194-3714G>A" "r.(=)" "p.(=)" "" "0000178943" "00004876" "55" "157" "0" "157" "0" "c.157A>G" "r.(?)" "p.Met53Val" "2" "0000178943" "00024207" "55" "200" "0" "200" "0" "c.200A>G" "r.(?)" "p.(Asp67Gly)" "" "0000178944" "00004876" "90" "158" "0" "158" "0" "c.158T>C" "r.(?)" "p.Met53Thr" "2" "0000178944" "00024207" "90" "201" "0" "201" "0" "c.201T>C" "r.(=)" "p.(=)" "" "0000178945" "00004876" "90" "159" "0" "159" "0" "c.159G>A" "r.(?)" "p.Met53Ile" "2" "0000178945" "00024207" "90" "202" "0" "202" "0" "c.202G>A" "r.(?)" "p.(Asp68Asn)" "" "0000178946" "00004876" "90" "159" "0" "159" "0" "c.159G>C" "r.(?)" "p.Met53Ile" "2" "0000178946" "00024207" "90" "202" "0" "202" "0" "c.202G>C" "r.(?)" "p.(Asp68His)" "" "0000178947" "00004876" "55" "162" "0" "162" "0" "c.162G>T" "r.(?)" "p.Met54Ile" "2" "0000178947" "00024207" "55" "205" "0" "205" "0" "c.205G>T" "r.(?)" "p.(Gly69Trp)" "" "0000178948" "00004876" "90" "166" "0" "223" "0" "c.166_223del" "r.(?)" "p.Ser56fs" "2" "0000178948" "00024207" "90" "209" "0" "266" "0" "c.209_266del" "r.(?)" "p.(Gln70Profs*83)" "" "0000178949" "00004876" "55" "167" "0" "167" "0" "c.167G>T" "r.(?)" "p.Ser56Ile" "2" "0000178949" "00024207" "55" "210" "0" "210" "0" "c.210G>T" "r.(?)" "p.(Gln70His)" "" "0000178950" "00004876" "90" "167" "0" "197" "0" "c.167_197del" "r.(?)" "p.Ser56fs" "2" "0000178950" "00024207" "90" "210" "0" "240" "0" "c.210_240del" "r.(?)" "p.(Gln70Hisfs*92)" "" "0000178951" "00004876" "55" "170" "0" "170" "0" "c.170C>G" "r.(?)" "p.Ala57Gly" "2" "0000178951" "00024207" "55" "213" "0" "213" "0" "c.213C>G" "r.(=)" "p.(=)" "" "0000178952" "00004876" "55" "170" "0" "170" "0" "c.170C>T" "r.(?)" "p.Ala57Val" "2" "0000178952" "00024207" "55" "213" "0" "213" "0" "c.213C>T" "r.(=)" "p.(=)" "" "0000178953" "00004876" "55" "-25" "0" "-25" "0" "c.-25C>T" "r.(?)" "p.(=)" "1a" "0000178953" "00024207" "55" "194" "-3644" "194" "-3644" "c.194-3644C>T" "r.(=)" "p.(=)" "" "0000178954" "00004876" "90" "172" "0" "172" "0" "c.172C>T" "r.(?)" "p.Arg58X" "2" "0000178954" "00024207" "90" "215" "0" "215" "0" "c.215C>T" "r.(?)" "p.(Pro72Leu)" "" "0000178955" "00004876" "55" "174" "0" "174" "0" "c.174A>C" "r.(?)" "p.= (Arg58)" "2" "0000178955" "00024207" "55" "217" "0" "217" "0" "c.217A>C" "r.(?)" "p.(Ser73Arg)" "" "0000178956" "00004876" "55" "176" "0" "176" "0" "c.176T>G" "r.(?)" "p.Val59Gly" "2" "0000178956" "00024207" "55" "219" "0" "219" "0" "c.219T>G" "r.(?)" "p.(Ser73Arg)" "" "0000178957" "00004876" "55" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.Ala60Val" "2" "0000178957" "00024207" "55" "222" "0" "222" "0" "c.222C>T" "r.(=)" "p.(=)" "" "0000178958" "00004876" "90" "185" "0" "208" "0" "c.185_208del" "r.(?)" "p.Leu62_Glu69del" "2" "0000178958" "00024207" "90" "228" "0" "251" "0" "c.228_251del" "r.(?)" "p.(Ala77_Ala84del)" "" "0000178959" "00004876" "55" "185" "0" "185" "0" "c.185T>C" "r.(?)" "p.Leu62Pro" "2" "0000178959" "00024207" "55" "228" "0" "228" "0" "c.228T>C" "r.(=)" "p.(=)" "" "0000178960" "00004876" "55" "188" "0" "188" "0" "c.188T>C" "r.(?)" "p.Leu63Pro" "2" "0000178960" "00024207" "55" "231" "0" "231" "0" "c.231T>C" "r.(=)" "p.(=)" "" "0000178961" "00004876" "10" "192" "0" "192" "0" "c.192G>A" "r.(?)" "p.Leu64" "2" "0000178961" "00024207" "10" "235" "0" "235" "0" "c.235G>A" "r.(?)" "p.(Ala79Thr)" "" "0000178962" "00004876" "55" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.Leu65Pro" "2" "0000178962" "00024207" "55" "237" "0" "237" "0" "c.237T>C" "r.(=)" "p.(=)" "" "0000178963" "00004876" "55" "198" "0" "198" "0" "c.198C>T" "r.(?)" "p.= (His66)" "2" "0000178963" "00024207" "55" "241" "0" "241" "0" "c.241C>T" "r.(?)" "p.(Arg81Trp)" "" "0000178964" "00004876" "55" "9" "0" "32" "0" "c.9_32del" "r.(?)" "p.Ala4_Pro11del" "1a" "0000178964" "00024207" "55" "194" "-3611" "194" "-3588" "c.194-3611_194-3588del24" "r.(=)" "p.(=)" "" "0000178965" "00004876" "90" "199" "0" "199" "0" "c.199G>A" "r.(?)" "p.Gly67Ser" "2" "0000178965" "00024207" "90" "242" "0" "242" "0" "c.242G>A" "r.(?)" "p.(Arg81Gln)" "" "0000178966" "00004876" "55" "199" "0" "199" "0" "c.199G>C" "r.(?)" "p.Gly67Arg" "2" "0000178966" "00024207" "55" "242" "0" "242" "0" "c.242G>C" "r.(?)" "p.(Arg81Pro)" "" "0000178967" "00004876" "55" "199" "0" "213" "0" "c.199_213del" "r.(?)" "p.Gly67_Asn71del" "2" "0000178967" "00024207" "55" "242" "0" "256" "0" "c.242_256del" "r.(?)" "p.(Arg81_Gln85del)" "" "0000178968" "00004876" "90" "201" "0" "201" "0" "c.201del" "r.(?)" "p.(Ala68ArgfsTer78)" "2" "0000178968" "00024207" "90" "244" "0" "244" "0" "c.244del" "r.(?)" "p.(Arg82Alafs*90)" "" "0000178969" "00004876" "55" "202" "0" "202" "0" "c.202G>C" "r.(?)" "p.Ala68Pro" "2" "0000178969" "00024207" "55" "245" "0" "245" "0" "c.245G>C" "r.(?)" "p.(Arg82Pro)" "" "0000178970" "00004876" "57" "202" "0" "202" "0" "c.202G>C" "r.(?)" "p.Ala68Pro" "2" "0000178970" "00024207" "57" "245" "0" "245" "0" "c.245G>C" "r.(?)" "p.(Arg82Pro)" "" "0000178971" "00004876" "90" "202" "0" "203" "0" "c.202_203delinsTT" "" "p.Ala68Leu" "2" "0000178971" "00024207" "00" "245" "0" "246" "0" "c.245_246delinsTT" "r.(?)" "p.(Arg82Leu)" "" "0000178972" "00004876" "55" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.Ala68Val" "2" "0000178972" "00024207" "55" "246" "0" "246" "0" "c.246C>T" "r.(=)" "p.(=)" "" "0000178973" "00004876" "55" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.Ala68Val" "2" "0000178973" "00024207" "55" "246" "0" "246" "0" "c.246C>T" "r.(=)" "p.(=)" "" "0000178974" "00004876" "55" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.Ala68Val" "2" "0000178974" "00024207" "55" "246" "0" "246" "0" "c.246C>T" "r.(=)" "p.(=)" "" "0000178975" "00004876" "55" "9" "0" "32" "0" "c.9_32dup" "r.(?)" "p.Met1_Ser8dup (or p.Ala4_Pro11dup)" "1a" "0000178975" "00024207" "55" "194" "-3611" "194" "-3588" "c.194-3611_194-3588dup24" "r.(=)" "p.(=)" "" "0000178976" "00004876" "90" "205" "0" "205" "0" "c.205G>T" "r.(?)" "p.Glu69X" "2" "0000178976" "00024207" "90" "248" "0" "248" "0" "c.248G>T" "r.(?)" "p.(Gly83Val)" "" "0000178977" "00004876" "55" "212" "0" "212" "0" "c.212A>G" "r.(?)" "p.Asn71Ser" "2" "0000178977" "00024207" "55" "255" "0" "255" "0" "c.255A>G" "r.(=)" "p.(=)" "" "0000178978" "00004876" "55" "212" "0" "212" "0" "c.212A>T" "r.(?)" "p.Asn71Ile" "2" "0000178978" "00024207" "55" "255" "0" "255" "0" "c.255A>T" "r.(?)" "p.(Gln85His)" "" "0000178979" "00004876" "55" "213" "0" "213" "0" "c.213C>A" "r.(?)" "p.Asn71Lys" "2" "0000178979" "00024207" "55" "256" "0" "256" "0" "c.256C>A" "r.(?)" "p.(Leu86Met)" "" "0000178980" "00004876" "55" "225" "0" "243" "0" "c.225_243del" "r.(?)" "p.Ala76fs" "2" "0000178980" "00024207" "55" "268" "0" "286" "0" "c.268_286del" "r.(?)" "p.(Arg90Valfs*76)" "" "0000178981" "00004876" "99" "225" "0" "243" "0" "c.225_243del" "r.(?)" "p.(Ala76Cysfs*64)" "2" "0000178981" "00024207" "99" "268" "0" "286" "0" "c.268_286del" "r.(?)" "p.(Arg90Valfs*76)" "" "0000178982" "00004876" "55" "226" "0" "227" "0" "c.226_227insT" "r.(?)" "p.Ala76fs" "2" "0000178982" "00024207" "55" "269" "0" "270" "0" "c.269_270insT" "r.(?)" "p.(His91Profs*70)" "" "0000178983" "00004876" "55" "240" "0" "253" "0" "c.240_253del" "r.(?)" "p.Pro81fs" "2" "0000178983" "00024207" "55" "283" "0" "296" "0" "c.283_296del" "r.(?)" "p.(Thr95Leufs*61)" "" "0000178984" "00004876" "90" "241" "0" "241" "0" "c.241C>A" "r.(?)" "p.Pro81Thr" "2" "0000178984" "00024207" "90" "284" "0" "284" "0" "c.284C>A" "r.(?)" "p.(Thr95Asn)" "" "0000178985" "00004876" "55" "242" "0" "242" "0" "c.242C>G" "r.(?)" "p.Pro81Arg" "2" "0000178985" "00024207" "55" "285" "0" "285" "0" "c.285C>G" "r.(=)" "p.(=)" "" "0000179055" "00004876" "55" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.His83Tyr" "2" "0000179055" "00024207" "55" "290" "0" "290" "0" "c.290C>T" "r.(?)" "p.(Ala97Val)" "" "0000179056" "00004876" "55" "249" "0" "249" "0" "c.249C>A" "r.(?)" "p.His83Gln" "2" "0000179056" "00024207" "55" "292" "0" "292" "0" "c.292C>A" "r.(=)" "p.(=)" "" "0000179057" "00004876" "10" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.Ala85Thr" "2" "0000179057" "00024207" "10" "296" "0" "296" "0" "c.296G>A" "r.(?)" "p.(Arg99His)" "" "0000179058" "00004876" "55" "259" "0" "259" "0" "c.259C>T" "r.(?)" "p.Arg87Trp" "2" "0000179058" "00024207" "55" "302" "0" "302" "0" "c.302C>T" "r.(?)" "p.(Pro101Leu)" "" "0000179059" "00004876" "90" "260" "0" "260" "0" "c.260G>C" "r.(?)" "p.Arg87Pro" "2" "0000179059" "00024207" "90" "303" "0" "303" "0" "c.303G>C" "r.(=)" "p.(=)" "" "0000179060" "00004876" "55" "262" "0" "262" "0" "c.262del" "r.(?)" "p.Glu88fs" "2" "0000179060" "00024207" "55" "305" "0" "305" "0" "c.305del" "r.(?)" "p.(Gly102GlufsTer70)" "" "0000179061" "00004876" "10" "267" "0" "267" "0" "c.267C>A" "r.(?)" "p.= (Gly89)" "2" "0000179061" "00024207" "10" "310" "0" "310" "0" "c.310C>A" "r.(?)" "p.(Leu104Ile)" "" "0000179062" "00004876" "55" "290" "0" "290" "0" "c.290T>C" "r.(?)" "p.Leu97Arg" "2" "0000179062" "00024207" "55" "333" "0" "333" "0" "c.333T>C" "r.(=)" "p.(=)" "" "0000179063" "00004876" "55" "295" "0" "295" "0" "c.295C>T" "r.(?)" "p.Arg99Trp" "2" "0000179063" "00024207" "55" "338" "0" "338" "0" "c.338C>T" "r.(?)" "p.(Pro113Leu)" "" "0000179064" "00004876" "55" "296" "0" "296" "0" "c.296G>C" "r.(?)" "p.Arg99Pro" "2" "0000179064" "00024207" "55" "339" "0" "339" "0" "c.339G>C" "r.(=)" "p.(=)" "" "0000179065" "00004876" "55" "306" "0" "306" "0" "c.306G>A" "r.(?)" "p.= (Ala102)" "2" "0000179065" "00024207" "55" "349" "0" "349" "0" "c.349G>A" "r.(?)" "p.(Ala117Thr)" "" "0000179066" "00004876" "90" "307" "0" "308" "0" "c.307_308del" "r.(?)" "p.Arg103fs" "2" "0000179066" "00024207" "90" "350" "0" "351" "0" "c.350_351del" "r.(?)" "p.(Ala117Glyfs*43)" "" "0000179067" "00004876" "55" "310" "0" "315" "0" "c.310_315del" "r.(?)" "p.Leu104_Asp105del" "2" "0000179067" "00024207" "55" "353" "0" "358" "0" "c.353_358del" "r.(?)" "p.(Ala118_Arg120delinsGly)" "" "0000179068" "00004876" "53" "318" "0" "318" "0" "c.318G>A" "r.(?)" "p.p.(Val106=)" "2" "0000179068" "00024207" "53" "361" "0" "361" "0" "c.361G>A" "r.(?)" "p.(Ala121Thr)" "" "0000179069" "00004876" "90" "44" "0" "44" "0" "c.44G>A" "r.(?)" "p.Trp15X" "1a" "0000179069" "00024207" "90" "194" "-3576" "194" "-3576" "c.194-3576G>A" "r.(=)" "p.(=)" "" "0000179070" "00004876" "55" "319" "0" "319" "0" "c.319C>T" "r.(?)" "p.Arg107Cys" "2" "0000179070" "00024207" "55" "362" "0" "362" "0" "c.362C>T" "r.(?)" "p.(Ala121Val)" "" "0000179071" "00004876" "55" "322" "0" "322" "0" "c.322G>A" "r.(?)" "p.Asp108Asn" "2" "0000179071" "00024207" "55" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Arg122Gln)" "" "0000179072" "00004876" "90" "335" "0" "337" "0" "c.335_337dup" "r.(?)" "p.(Arg112dup)" "2" "0000179072" "00024207" "90" "375" "0" "377" "0" "c.375_377dup" "r.(?)" "p.(Pro126dup)" "" "0000179073" "00004876" "55" "334" "0" "334" "0" "c.334C>G" "r.(?)" "p.Arg112Gly" "2" "0000179073" "00024207" "55" "377" "0" "377" "0" "c.377C>G" "r.(?)" "p.(Pro126Arg)" "" "0000179074" "00004876" "10" "339" "0" "339" "0" "c.339G>A" "r.(?)" "p.= (Leu113)" "2" "0000179074" "00024207" "10" "382" "0" "382" "0" "c.382G>A" "r.(?)" "p.(Ala128Thr)" "" "0000179075" "00004876" "55" "340" "0" "340" "0" "c.340C>T" "r.(?)" "p.Pro114Ser" "2" "0000179075" "00024207" "55" "383" "0" "383" "0" "c.383C>T" "r.(?)" "p.(Ala128Val)" "" "0000179076" "00004876" "55" "352" "0" "352" "0" "c.352G>A" "r.(?)" "p.Ala118Thr" "2" "0000179076" "00024207" "55" "395" "0" "395" "0" "c.395G>A" "r.(?)" "p.(Gly132Asp)" "" "0000179077" "00004876" "90" "358" "0" "358" "0" "c.358del" "r.(?)" "p.Glu120fs" "2" "0000179077" "00024207" "90" "401" "0" "401" "0" "c.*2del" "r.(=)" "p.(=)" "" "0000179078" "00004876" "55" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.Arg124Cys" "2" "0000179078" "00024207" "55" "413" "0" "413" "0" "c.*14C>T" "r.(=)" "p.(=)" "" "0000179079" "00004876" "55" "373" "0" "373" "0" "c.373G>C" "r.(?)" "p.Asp125His" "2" "0000179079" "00024207" "55" "416" "0" "416" "0" "c.*17G>C" "r.(=)" "p.(=)" "" "0000179080" "00004876" "90" "46" "0" "46" "0" "c.46del" "r.(?)" "p.(Leu16TrpfsTer10)" "1a" "0000179080" "00024207" "90" "194" "-3574" "194" "-3574" "c.194-3574del" "r.(=)" "p.(=)" "" "0000179081" "00004876" "55" "379" "0" "379" "0" "c.379G>C" "r.(?)" "p.Ala127Pro" "2" "0000179081" "00024207" "55" "422" "0" "422" "0" "c.*23G>C" "r.(=)" "p.(=)" "" "0000179082" "00004876" "55" "384" "0" "384" "0" "c.384G>A" "r.(?)" "p.= (Arg128)" "2" "0000179082" "00024207" "55" "427" "0" "427" "0" "c.*28G>A" "r.(=)" "p.(=)" "" "0000179083" "00004876" "55" "47" "0" "47" "0" "c.47T>C" "r.(?)" "p.Leu16Pro" "1a" "0000179083" "00024207" "55" "194" "-3573" "194" "-3573" "c.194-3573T>C" "r.(=)" "p.(=)" "" "0000179084" "00004876" "55" "442" "0" "442" "0" "c.442G>A" "r.(?)" "p.Ala148Thr" "2" "0000179084" "00024207" "55" "485" "0" "485" "0" "c.*86G>A" "r.(=)" "p.(=)" "" "0000179085" "00004876" "90" "457" "0" "457" "0" "c.457G>T" "r.(?)" "p.Asp153Tyr" "2" "0000179085" "00024207" "90" "500" "0" "500" "0" "c.*101G>T" "r.(=)" "p.(=)" "" "0000179086" "00004876" "90" "457" "1" "457" "1" "c.457+1G>T" "r.spl" "p.?" "2i" "0000179086" "00024207" "90" "500" "1" "500" "1" "c.*101+1G>T" "r.spl?" "p.?" "" "0000179087" "00004876" "90" "458" "-105" "458" "-105" "c.458-105A>G" "r.(?)" "p.(=)" "2i" "0000179087" "00024207" "90" "501" "-105" "501" "-105" "c.*102-105A>G" "r.(=)" "p.(=)" "" "0000179088" "00004876" "55" "47" "0" "47" "0" "c.47T>G" "r.(?)" "p.Leu16Arg" "1a" "0000179088" "00024207" "55" "194" "-3573" "194" "-3573" "c.194-3573T>G" "r.(=)" "p.(=)" "" "0000179089" "00004876" "10" "500" "0" "500" "0" "c.*29C>G" "r.(?)" "p.?" "3" "0000179089" "00024207" "10" "543" "0" "543" "0" "c.*144C>G" "" "" "" "0000179090" "00004876" "90" "52" "0" "57" "0" "c.52_57dup" "r.(?)" "p.Thr18_Ala19dup" "1a" "0000179090" "00024207" "90" "194" "-3568" "194" "-3563" "c.194-3568_194-3563dup" "r.(=)" "p.(=)" "" "0000179091" "00004876" "55" "67" "0" "67" "0" "c.67G>C" "r.(?)" "p.Gly23Arg" "1a" "0000179091" "00024207" "55" "194" "-3553" "194" "-3553" "c.194-3553G>C" "r.(=)" "p.(=)" "" "0000179092" "00004876" "55" "68" "0" "68" "0" "c.68G>A" "r.(?)" "p.Gly23Asp" "1a" "0000179092" "00024207" "55" "194" "-3552" "194" "-3552" "c.194-3552G>A" "r.(=)" "p.(=)" "" "0000179093" "00004876" "55" "71" "0" "71" "0" "c.71G>C" "r.(?)" "p.Arg24Pro" "1a" "0000179093" "00024207" "55" "194" "-3549" "194" "-3549" "c.194-3549G>C" "r.(=)" "p.(=)" "" "0000179094" "00004876" "90" "79" "0" "79" "0" "c.79G>T" "r.(?)" "p.Glu27X" "1a" "0000179094" "00024207" "90" "194" "-3541" "194" "-3541" "c.194-3541G>T" "r.(=)" "p.(=)" "" "0000179095" "00004876" "90" "88" "0" "88" "0" "c.88del" "r.(?)" "p.Ala30fs" "1a" "0000179095" "00024207" "90" "194" "-3532" "194" "-3532" "c.194-3532del" "r.(=)" "p.(=)" "" "0000179096" "00004876" "55" "95" "0" "95" "0" "c.95T>C" "r.(?)" "p.Leu32Pro" "1a" "0000179096" "00024207" "55" "194" "-3525" "194" "-3525" "c.194-3525T>C" "r.(=)" "p.(=)" "" "0000179097" "00004876" "90" "104" "0" "104" "0" "c.104G>C" "r.(?)" "p.Gly35Ala" "1a" "0000179097" "00024207" "90" "194" "-3516" "194" "-3516" "c.194-3516G>C" "r.(=)" "p.(=)" "" "0000179098" "00004876" "55" "106" "0" "106" "0" "c.106G>C" "r.(?)" "p.Ala36Pro" "1a" "0000179098" "00024207" "55" "194" "-3514" "194" "-3514" "c.194-3514G>C" "r.(=)" "p.(=)" "" "0000179099" "00004876" "10" "123" "0" "123" "0" "c.123G>A" "r.(?)" "p.=" "1a" "0000179099" "00024207" "10" "194" "-3497" "194" "-3497" "c.194-3497G>A" "r.(=)" "p.(=)" "" "0000179100" "00004876" "90" "131" "0" "131" "0" "c.131dup" "r.(?)" "p.Tyr44X" "1a" "0000179100" "00024207" "90" "194" "-3489" "194" "-3489" "c.194-3489dup" "r.(=)" "p.(=)" "" "0000179101" "00004876" "90" "132" "0" "132" "0" "c.132C>A" "r.(?)" "p.Tyr44X" "1a" "0000179101" "00024207" "90" "194" "-3488" "194" "-3488" "c.194-3488C>A" "r.(=)" "p.(=)" "" "0000179102" "00004876" "70" "142" "0" "142" "0" "c.142C>A" "r.(?)" "p.Pro48Thr" "1a" "0000179102" "00024207" "70" "194" "-3478" "194" "-3478" "c.194-3478C>A" "r.(=)" "p.(=)" "" "0000179103" "00004876" "55" "143" "0" "143" "0" "c.143C>T" "r.(?)" "p.Pro48Leu" "1a" "0000179103" "00024207" "55" "194" "-3477" "194" "-3477" "c.194-3477C>T" "r.(=)" "p.(=)" "" "0000179104" "00004876" "55" "146" "0" "146" "0" "c.146T>C" "r.(?)" "p.Ile49Thr" "1a" "0000179104" "00024207" "55" "194" "-3474" "194" "-3474" "c.194-3474T>C" "r.(=)" "p.(=)" "" "0000179105" "00004876" "90" "146" "0" "146" "0" "c.146T>G" "r.(?)" "p.Ile49Ser" "1a" "0000179105" "00024207" "90" "194" "-3474" "194" "-3474" "c.194-3474T>G" "r.(=)" "p.(=)" "" "0000179106" "00004876" "55" "149" "0" "149" "0" "c.149A>C" "r.(?)" "p.Gln50Pro" "1a" "0000179106" "00024207" "55" "194" "-3471" "194" "-3471" "c.194-3471A>C" "r.(=)" "p.(=)" "" "0000179107" "00004876" "55" "149" "0" "149" "0" "c.149A>G" "r.(?)" "p.Gln50Arg" "1a" "0000179107" "00024207" "55" "194" "-3471" "194" "-3471" "c.194-3471A>G" "r.(=)" "p.(=)" "" "0000179108" "00004876" "90" "159" "0" "159" "0" "c.159G>A" "r.(?)" "p.(Met53Ile)" "2" "0000179108" "00024207" "90" "202" "0" "202" "0" "c.202G>A" "r.(?)" "p.(Asp68Asn)" "" "0000179109" "00004876" "90" "159" "0" "159" "0" "c.159G>C" "r.(?)" "p.Met53Ile" "2" "0000179109" "00024207" "90" "202" "0" "202" "0" "c.202G>C" "r.(?)" "p.(Asp68His)" "" "0000179110" "00004876" "90" "166" "0" "223" "0" "c.166_223del" "r.(?)" "p.Ser56fs" "2" "0000179110" "00024207" "90" "209" "0" "266" "0" "c.209_266del" "r.(?)" "p.(Gln70Profs*83)" "" "0000179111" "00004876" "55" "167" "0" "167" "0" "c.167G>T" "r.(?)" "p.Ser56Ile" "2" "0000179111" "00024207" "55" "210" "0" "210" "0" "c.210G>T" "r.(?)" "p.(Gln70His)" "" "0000179112" "00004876" "90" "167" "0" "197" "0" "c.167_197del" "r.(?)" "p.Ser56fs" "2" "0000179112" "00024207" "90" "210" "0" "240" "0" "c.210_240del" "r.(?)" "p.(Gln70Hisfs*92)" "" "0000179113" "00004876" "55" "170" "0" "170" "0" "c.170C>T" "r.(?)" "p.Ala57Val" "2" "0000179113" "00024207" "55" "213" "0" "213" "0" "c.213C>T" "r.(=)" "p.(=)" "" "0000179114" "00004876" "90" "172" "0" "172" "0" "c.172C>T" "r.(?)" "p.Arg58X" "2" "0000179114" "00024207" "90" "215" "0" "215" "0" "c.215C>T" "r.(?)" "p.(Pro72Leu)" "" "0000179115" "00004876" "55" "174" "0" "174" "0" "c.174A>C" "r.(?)" "p.= (Arg58)" "2" "0000179115" "00024207" "55" "217" "0" "217" "0" "c.217A>C" "r.(?)" "p.(Ser73Arg)" "" "0000179116" "00004876" "55" "176" "0" "176" "0" "c.176T>G" "r.(?)" "p.Val59Gly" "2" "0000179116" "00024207" "55" "219" "0" "219" "0" "c.219T>G" "r.(?)" "p.(Ser73Arg)" "" "0000179117" "00004876" "55" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.Ala60Val" "2" "0000179117" "00024207" "55" "222" "0" "222" "0" "c.222C>T" "r.(=)" "p.(=)" "" "0000179118" "00004876" "90" "185" "0" "208" "0" "c.185_208del" "r.(?)" "p.Leu62_Glu69del" "2" "0000179118" "00024207" "90" "228" "0" "251" "0" "c.228_251del" "r.(?)" "p.(Ala77_Ala84del)" "" "0000179119" "00004876" "55" "185" "0" "185" "0" "c.185T>C" "r.(?)" "p.Leu62Pro" "2" "0000179119" "00024207" "55" "228" "0" "228" "0" "c.228T>C" "r.(=)" "p.(=)" "" "0000179120" "00004876" "10" "192" "0" "192" "0" "c.192G>A" "r.(?)" "p.Leu64" "2" "0000179120" "00024207" "10" "235" "0" "235" "0" "c.235G>A" "r.(?)" "p.(Ala79Thr)" "" "0000179121" "00004876" "55" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.Leu65Pro" "2" "0000179121" "00024207" "55" "237" "0" "237" "0" "c.237T>C" "r.(=)" "p.(=)" "" "0000179122" "00004876" "55" "9" "0" "32" "0" "c.9_32del" "r.(?)" "p.Ala4_Pro11del" "1a" "0000179122" "00024207" "55" "194" "-3611" "194" "-3588" "c.194-3611_194-3588del24" "r.(=)" "p.(=)" "" "0000179123" "00004876" "90" "199" "0" "199" "0" "c.199G>A" "r.(?)" "p.Gly67Ser" "2" "0000179123" "00024207" "90" "242" "0" "242" "0" "c.242G>A" "r.(?)" "p.(Arg81Gln)" "" "0000179124" "00004876" "55" "199" "0" "199" "0" "c.199G>C" "r.(?)" "p.Gly67Arg" "2" "0000179124" "00024207" "55" "242" "0" "242" "0" "c.242G>C" "r.(?)" "p.(Arg81Pro)" "" "0000179125" "00004876" "90" "202" "0" "203" "0" "c.202_203delinsTT" "" "p.Ala68Leu" "2" "0000179125" "00024207" "00" "245" "0" "246" "0" "c.245_246delinsTT" "r.(?)" "p.(Arg82Leu)" "" "0000179126" "00004876" "55" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.Ala68Val" "2" "0000179126" "00024207" "55" "246" "0" "246" "0" "c.246C>T" "r.(=)" "p.(=)" "" "0000179127" "00004876" "55" "9" "0" "32" "0" "c.9_32dup" "r.(?)" "p.Met1_Ser8dup (or p.Ala4_Pro11dup)" "1a" "0000179127" "00024207" "55" "194" "-3611" "194" "-3588" "c.194-3611_194-3588dup24" "r.(=)" "p.(=)" "" "0000179128" "00004876" "55" "212" "0" "212" "0" "c.212A>G" "r.(?)" "p.Asn71Ser" "2" "0000179128" "00024207" "55" "255" "0" "255" "0" "c.255A>G" "r.(=)" "p.(=)" "" "0000179129" "00004876" "55" "213" "0" "213" "0" "c.213C>A" "r.(?)" "p.Asn71Lys" "2" "0000179129" "00024207" "55" "256" "0" "256" "0" "c.256C>A" "r.(?)" "p.(Leu86Met)" "" "0000179130" "00004876" "55" "225" "0" "243" "0" "c.225_243del" "r.(?)" "p.Ala76fs" "2" "0000179130" "00024207" "55" "268" "0" "286" "0" "c.268_286del" "r.(?)" "p.(Arg90Valfs*76)" "" "0000179131" "00004876" "55" "240" "0" "253" "0" "c.240_253del" "r.(?)" "p.Pro81fs" "2" "0000179131" "00024207" "55" "283" "0" "296" "0" "c.283_296del" "r.(?)" "p.(Thr95Leufs*61)" "" "0000179132" "00004876" "90" "52" "0" "57" "0" "c.52_57dup" "r.(?)" "p.Thr18_Ala19dup" "1a" "0000179132" "00024207" "90" "194" "-3568" "194" "-3563" "c.194-3568_194-3563dup" "r.(=)" "p.(=)" "" "0000179133" "00004876" "55" "71" "0" "71" "0" "c.71G>C" "r.(?)" "p.Arg24Pro" "1a" "0000179133" "00024207" "55" "194" "-3549" "194" "-3549" "c.194-3549G>C" "r.(=)" "p.(=)" "" "0000179134" "00004876" "55" "373" "0" "373" "0" "c.373G>C" "r.(?)" "p.Asp125His" "2" "0000179134" "00024207" "55" "416" "0" "416" "0" "c.*17G>C" "r.(=)" "p.(=)" "" "0000179135" "00004876" "55" "442" "0" "442" "0" "c.442G>A" "r.(?)" "p.Ala148Thr" "2" "0000179135" "00024207" "55" "485" "0" "485" "0" "c.*86G>A" "r.(=)" "p.(=)" "" "0000179136" "00004876" "55" "47" "0" "47" "0" "c.47T>G" "r.(?)" "p.Leu16Arg" "1a" "0000179136" "00024207" "55" "194" "-3573" "194" "-3573" "c.194-3573T>G" "r.(=)" "p.(=)" "" "0000179137" "00004876" "90" "88" "0" "88" "0" "c.88del" "r.(?)" "p.Ala30fs" "1a" "0000179137" "00024207" "90" "194" "-3532" "194" "-3532" "c.194-3532del" "r.(=)" "p.(=)" "" "0000179138" "00004876" "55" "149" "0" "149" "0" "c.149A>C" "r.(?)" "p.Gln50Pro" "1a" "0000179138" "00024207" "55" "194" "-3471" "194" "-3471" "c.194-3471A>C" "r.(=)" "p.(=)" "" "0000179139" "00004876" "55" "170" "0" "170" "0" "c.170C>T" "r.(?)" "p.Ala57Val" "2" "0000179139" "00024207" "55" "213" "0" "213" "0" "c.213C>T" "r.(=)" "p.(=)" "" "0000179140" "00004876" "55" "290" "0" "290" "0" "c.290T>C" "r.(?)" "p.Leu97Arg" "2" "0000179140" "00024207" "55" "333" "0" "333" "0" "c.333T>C" "r.(=)" "p.(=)" "" "0000179141" "00004876" "90" "335" "0" "337" "0" "c.335_337dup" "r.(?)" "p.(Arg112dup)" "2" "0000179141" "00024207" "90" "375" "0" "377" "0" "c.375_377dup" "r.(?)" "p.(Pro126dup)" "" "0000179142" "00004876" "55" "47" "0" "47" "0" "c.47T>C" "r.(?)" "p.Leu16Pro" "1a" "0000179142" "00024207" "55" "194" "-3573" "194" "-3573" "c.194-3573T>C" "r.(=)" "p.(=)" "" "0000179143" "00004876" "55" "95" "0" "95" "0" "c.95T>C" "r.(?)" "p.Leu32Pro" "1a" "0000179143" "00024207" "55" "194" "-3525" "194" "-3525" "c.194-3525T>C" "r.(=)" "p.(=)" "" "0000179144" "00004876" "55" "143" "0" "143" "0" "c.143C>T" "r.(?)" "p.Pro48Leu" "1a" "0000179144" "00024207" "55" "194" "-3477" "194" "-3477" "c.194-3477C>T" "r.(=)" "p.(=)" "" "0000179145" "00004876" "90" "146" "0" "146" "0" "c.146T>G" "r.(?)" "p.Ile49Ser" "1a" "0000179145" "00024207" "90" "194" "-3474" "194" "-3474" "c.194-3474T>G" "r.(=)" "p.(=)" "" "0000179146" "00004876" "55" "149" "0" "149" "0" "c.149A>G" "r.(?)" "p.Gln50Arg" "1a" "0000179146" "00024207" "55" "194" "-3471" "194" "-3471" "c.194-3471A>G" "r.(=)" "p.(=)" "" "0000179147" "00004876" "90" "172" "0" "172" "0" "c.172C>T" "r.(?)" "p.Arg58X" "2" "0000179147" "00024207" "90" "215" "0" "215" "0" "c.215C>T" "r.(?)" "p.(Pro72Leu)" "" "0000179148" "00004876" "90" "202" "0" "203" "0" "c.202_203delinsTT" "" "p.Ala68Leu" "2" "0000179148" "00024207" "00" "245" "0" "246" "0" "c.245_246delinsTT" "r.(?)" "p.(Arg82Leu)" "" "0000179149" "00004876" "55" "213" "0" "213" "0" "c.213C>A" "r.(?)" "p.Asn71Lys" "2" "0000179149" "00024207" "55" "256" "0" "256" "0" "c.256C>A" "r.(?)" "p.(Leu86Met)" "" "0000179150" "00004876" "55" "68" "0" "68" "0" "c.68G>A" "r.(?)" "p.Gly23Asp" "1a" "0000179150" "00024207" "55" "194" "-3552" "194" "-3552" "c.194-3552G>A" "r.(=)" "p.(=)" "" "0000179151" "00004876" "90" "159" "0" "159" "0" "c.159G>C" "r.(?)" "p.Met53Ile" "2" "0000179151" "00024207" "90" "202" "0" "202" "0" "c.202G>C" "r.(?)" "p.(Asp68His)" "" "0000179152" "00004876" "55" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.Ala68Val" "2" "0000179152" "00024207" "55" "246" "0" "246" "0" "c.246C>T" "r.(=)" "p.(=)" "" "0000179153" "00004876" "55" "296" "0" "296" "0" "c.296G>C" "r.(?)" "p.Arg99Pro" "2" "0000179153" "00024207" "55" "339" "0" "339" "0" "c.339G>C" "r.(=)" "p.(=)" "" "0000179154" "00004876" "90" "44" "0" "44" "0" "c.44G>A" "r.(?)" "p.Trp15X" "1a" "0000179154" "00024207" "90" "194" "-3576" "194" "-3576" "c.194-3576G>A" "r.(=)" "p.(=)" "" "0000179155" "00004876" "55" "352" "0" "352" "0" "c.352G>A" "r.(?)" "p.Ala118Thr" "2" "0000179155" "00024207" "55" "395" "0" "395" "0" "c.395G>A" "r.(?)" "p.(Gly132Asp)" "" "0000179156" "00004876" "90" "458" "-105" "458" "-105" "c.458-105A>G" "r.(?)" "p.(=)" "2i" "0000179156" "00024207" "90" "501" "-105" "501" "-105" "c.*102-105A>G" "r.(=)" "p.(=)" "" "0000179157" "00004876" "55" "106" "0" "106" "0" "c.106G>C" "r.(?)" "p.Ala36Pro" "1a" "0000179157" "00024207" "55" "194" "-3514" "194" "-3514" "c.194-3514G>C" "r.(=)" "p.(=)" "" "0000179158" "00004876" "70" "142" "0" "142" "0" "c.142C>A" "r.(?)" "p.Pro48Thr" "1a" "0000179158" "00024207" "70" "194" "-3478" "194" "-3478" "c.194-3478C>A" "r.(=)" "p.(=)" "" "0000179159" "00004876" "55" "176" "0" "176" "0" "c.176T>G" "r.(?)" "p.Val59Gly" "2" "0000179159" "00024207" "55" "219" "0" "219" "0" "c.219T>G" "r.(?)" "p.(Ser73Arg)" "" "0000179160" "00004876" "55" "240" "0" "253" "0" "c.240_253del" "r.(?)" "p.Pro81fs" "2" "0000179160" "00024207" "55" "283" "0" "296" "0" "c.283_296del" "r.(?)" "p.(Thr95Leufs*61)" "" "0000179161" "00004876" "55" "379" "0" "379" "0" "c.379G>C" "r.(?)" "p.Ala127Pro" "2" "0000179161" "00024207" "55" "422" "0" "422" "0" "c.*23G>C" "r.(=)" "p.(=)" "" "0000179162" "00004876" "90" "199" "0" "199" "0" "c.199G>A" "r.(?)" "p.Gly67Ser" "2" "0000179162" "00024207" "90" "242" "0" "242" "0" "c.242G>A" "r.(?)" "p.(Arg81Gln)" "" "0000179163" "00004876" "10" "339" "0" "339" "0" "c.339G>A" "r.(?)" "p.= (Leu113)" "2" "0000179163" "00024207" "10" "382" "0" "382" "0" "c.382G>A" "r.(?)" "p.(Ala128Thr)" "" "0000179164" "00004876" "55" "199" "0" "199" "0" "c.199G>C" "r.(?)" "p.(Gly67Arg)" "2" "0000179164" "00024207" "55" "242" "0" "242" "0" "c.242G>C" "r.(?)" "p.(Arg81Pro)" "" "0000179165" "00004876" "90" "457" "1" "457" "1" "c.457+1G>T" "r.spl" "p.?" "2i" "0000179165" "00024207" "90" "500" "1" "500" "1" "c.*101+1G>T" "r.spl?" "p.?" "" "0000179166" "00004876" "90" "131" "0" "131" "0" "c.131dup" "r.(?)" "p.Tyr44X" "1a" "0000179166" "00024207" "90" "194" "-3489" "194" "-3489" "c.194-3489dup" "r.(=)" "p.(=)" "" "0000179167" "00004876" "90" "132" "0" "132" "0" "c.132C>A" "r.(?)" "p.Tyr44X" "1a" "0000179167" "00024207" "90" "194" "-3488" "194" "-3488" "c.194-3488C>A" "r.(=)" "p.(=)" "" "0000179168" "00004876" "55" "212" "0" "212" "0" "c.212A>G" "r.(?)" "p.Asn71Ser" "2" "0000179168" "00024207" "55" "255" "0" "255" "0" "c.255A>G" "r.(=)" "p.(=)" "" "0000179169" "00004876" "55" "167" "0" "167" "0" "c.167G>T" "r.(?)" "p.Ser56Ile" "2" "0000179169" "00024207" "55" "210" "0" "210" "0" "c.210G>T" "r.(?)" "p.(Gln70His)" "" "0000179170" "00004876" "90" "457" "0" "457" "0" "c.457G>T" "r.(?)" "p.Asp153Tyr" "2" "0000179170" "00024207" "90" "500" "0" "500" "0" "c.*101G>T" "r.(=)" "p.(=)" "" "0000179171" "00004876" "53" "318" "0" "318" "0" "c.318G>A" "r.(?)" "p.p.(Val106=)" "2" "0000179171" "00024207" "53" "361" "0" "361" "0" "c.361G>A" "r.(?)" "p.(Ala121Thr)" "" "0000179172" "00004876" "55" "67" "0" "67" "0" "c.67G>C" "r.(?)" "p.Gly23Arg" "1a" "0000179172" "00024207" "55" "194" "-3553" "194" "-3553" "c.194-3553G>C" "r.(=)" "p.(=)" "" "0000179173" "00004876" "55" "334" "0" "334" "0" "c.334C>G" "r.(?)" "p.Arg112Gly" "2" "0000179173" "00024207" "55" "377" "0" "377" "0" "c.377C>G" "r.(?)" "p.(Pro126Arg)" "" "0000179174" "00004876" "90" "358" "0" "358" "0" "c.358del" "r.(?)" "p.Glu120fs" "2" "0000179174" "00024207" "90" "401" "0" "401" "0" "c.*2del" "r.(=)" "p.(=)" "" "0000179175" "00004876" "90" "260" "0" "260" "0" "c.260G>C" "r.(?)" "p.Arg87Pro" "2" "0000179175" "00024207" "90" "303" "0" "303" "0" "c.303G>C" "r.(=)" "p.(=)" "" "0000179176" "00004876" "90" "104" "0" "104" "0" "c.104G>C" "r.(?)" "p.Gly35Ala" "1a" "0000179176" "00024207" "90" "194" "-3516" "194" "-3516" "c.194-3516G>C" "r.(=)" "p.(=)" "" "0000179177" "00004876" "55" "146" "0" "146" "0" "c.146T>C" "r.(?)" "p.Ile49Thr" "1a" "0000179177" "00024207" "55" "194" "-3474" "194" "-3474" "c.194-3474T>C" "r.(=)" "p.(=)" "" "0000179178" "00004876" "55" "185" "0" "185" "0" "c.185T>C" "r.(?)" "p.Leu62Pro" "2" "0000179178" "00024207" "55" "228" "0" "228" "0" "c.228T>C" "r.(=)" "p.(=)" "" "0000179179" "00004876" "55" "225" "0" "243" "0" "c.225_243del" "r.(?)" "p.Ala76fs" "2" "0000179179" "00024207" "55" "268" "0" "286" "0" "c.268_286del" "r.(?)" "p.(Arg90Valfs*76)" "" "0000179180" "00004876" "55" "9" "0" "32" "0" "c.9_32del" "r.(?)" "p.Ala4_Pro11del" "1a" "0000179180" "00024207" "55" "194" "-3611" "194" "-3588" "c.194-3611_194-3588del24" "r.(=)" "p.(=)" "" "0000179181" "00004876" "90" "46" "0" "46" "0" "c.46del" "r.(?)" "p.(Leu16TrpfsTer10)" "1a" "0000179181" "00024207" "90" "194" "-3574" "194" "-3574" "c.194-3574del" "r.(=)" "p.(=)" "" "0000179182" "00004876" "55" "9" "0" "32" "0" "c.9_32dup" "r.(?)" "p.Met1_Ser8dup (or p.Ala4_Pro11dup)" "1a" "0000179182" "00024207" "55" "194" "-3611" "194" "-3588" "c.194-3611_194-3588dup24" "r.(=)" "p.(=)" "" "0000179183" "00004876" "55" "322" "0" "322" "0" "c.322G>A" "r.(?)" "p.Asp108Asn" "2" "0000179183" "00024207" "55" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Arg122Gln)" "" "0000179184" "00004876" "55" "384" "0" "384" "0" "c.384G>A" "r.(?)" "p.= (Arg128)" "2" "0000179184" "00024207" "55" "427" "0" "427" "0" "c.*28G>A" "r.(=)" "p.(=)" "" "0000179185" "00004876" "90" "260" "0" "260" "0" "c.260G>C" "r.(?)" "p.Arg87Pro" "2" "0000179185" "00024207" "90" "303" "0" "303" "0" "c.303G>C" "r.(=)" "p.(=)" "" "0000179186" "00004876" "55" "334" "0" "334" "0" "c.334C>G" "r.(?)" "p.Arg112Gly" "2" "0000179186" "00024207" "55" "377" "0" "377" "0" "c.377C>G" "r.(?)" "p.(Pro126Arg)" "" "0000179187" "00004876" "55" "68" "0" "68" "0" "c.68G>A" "r.(?)" "p.Gly23Asp" "1a" "0000179187" "00024207" "55" "194" "-3552" "194" "-3552" "c.194-3552G>A" "r.(=)" "p.(=)" "" "0000179188" "00004876" "55" "71" "0" "71" "0" "c.71G>C" "r.(?)" "p.Arg24Pro" "1a" "0000179188" "00024207" "55" "194" "-3549" "194" "-3549" "c.194-3549G>C" "r.(=)" "p.(=)" "" "0000179189" "00004876" "55" "167" "0" "167" "0" "c.167G>T" "r.(?)" "p.Ser56Ile" "2" "0000179189" "00024207" "55" "210" "0" "210" "0" "c.210G>T" "r.(?)" "p.(Gln70His)" "" "0000179190" "00004876" "55" "9" "0" "32" "0" "c.9_32dup" "r.(?)" "p.(Ala4_Pro11dup)" "1a" "0000179190" "00024207" "55" "194" "-3611" "194" "-3588" "c.194-3611_194-3588dup" "r.(=)" "p.(=)" "" "0000179191" "00004876" "55" "290" "0" "290" "0" "c.290T>C" "r.(?)" "p.Leu97Arg" "2" "0000179191" "00024207" "55" "333" "0" "333" "0" "c.333T>C" "r.(=)" "p.(=)" "" "0000179192" "00004876" "90" "335" "0" "337" "0" "c.335_337dup" "r.(?)" "p.(Arg112dup)" "2" "0000179192" "00024207" "90" "375" "0" "377" "0" "c.375_377dup" "r.(?)" "p.(Pro126dup)" "" "0000179193" "00004876" "90" "52" "0" "57" "0" "c.52_57dup" "r.(?)" "p.Thr18_Ala19dup" "1a" "0000179193" "00024207" "90" "194" "-3568" "194" "-3563" "c.194-3568_194-3563dup" "r.(=)" "p.(=)" "" "0000179194" "00004876" "55" "143" "0" "143" "0" "c.143C>T" "r.(?)" "p.Pro48Leu" "1a" "0000179194" "00024207" "55" "194" "-3477" "194" "-3477" "c.194-3477C>T" "r.(=)" "p.(=)" "" "0000179195" "00004876" "90" "146" "0" "146" "0" "c.146T>G" "r.(?)" "p.Ile49Ser" "1a" "0000179195" "00024207" "90" "194" "-3474" "194" "-3474" "c.194-3474T>G" "r.(=)" "p.(=)" "" "0000179196" "00004876" "55" "185" "0" "185" "0" "c.185T>C" "r.(?)" "p.Leu62Pro" "2" "0000179196" "00024207" "55" "228" "0" "228" "0" "c.228T>C" "r.(=)" "p.(=)" "" "0000179197" "00004876" "55" "9" "0" "32" "0" "c.9_32del" "r.(?)" "p.Ala4_Pro11del" "1a" "0000179197" "00024207" "55" "194" "-3611" "194" "-3588" "c.194-3611_194-3588del24" "r.(=)" "p.(=)" "" "0000179198" "00004876" "90" "202" "0" "203" "0" "c.202_203delinsTT" "" "p.Ala68Leu" "2" "0000179198" "00024207" "00" "245" "0" "246" "0" "c.245_246delinsTT" "r.(?)" "p.(Arg82Leu)" "" "0000179199" "00004876" "55" "213" "0" "213" "0" "c.213C>A" "r.(?)" "p.Asn71Lys" "2" "0000179199" "00024207" "55" "256" "0" "256" "0" "c.256C>A" "r.(?)" "p.(Leu86Met)" "" "0000179200" "00004876" "90" "159" "0" "159" "0" "c.159G>C" "r.(?)" "p.Met53Ile" "2" "0000179200" "00024207" "90" "202" "0" "202" "0" "c.202G>C" "r.(?)" "p.(Asp68His)" "" "0000179201" "00004876" "55" "225" "0" "243" "0" "c.225_243del" "r.(?)" "p.Ala76fs" "2" "0000179201" "00024207" "55" "268" "0" "286" "0" "c.268_286del" "r.(?)" "p.(Arg90Valfs*76)" "" "0000179202" "00004876" "70" "142" "0" "142" "0" "c.142C>A" "r.(?)" "p.Pro48Thr" "1a" "0000179202" "00024207" "70" "194" "-3478" "194" "-3478" "c.194-3478C>A" "r.(=)" "p.(=)" "" "0000179203" "00004876" "55" "322" "0" "322" "0" "c.322G>A" "r.(?)" "p.Asp108Asn" "2" "0000179203" "00024207" "55" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Arg122Gln)" "" "0000179204" "00004876" "90" "457" "0" "457" "0" "c.457G>T" "r.(?)" "p.Asp153Tyr" "2" "0000179204" "00024207" "90" "500" "0" "500" "0" "c.*101G>T" "r.(=)" "p.(=)" "" "0000179205" "00004876" "90" "457" "1" "457" "1" "c.457+1G>T" "r.spl" "p.?" "2i" "0000179205" "00024207" "90" "500" "1" "500" "1" "c.*101+1G>T" "r.spl?" "p.?" "" "0000179206" "00004876" "53" "318" "0" "318" "0" "c.318G>A" "r.(?)" "p.p.(Val106=)" "2" "0000179206" "00024207" "53" "361" "0" "361" "0" "c.361G>A" "r.(?)" "p.(Ala121Thr)" "" "0000179207" "00004876" "55" "95" "0" "95" "0" "c.95T>C" "r.(?)" "p.Leu32Pro" "1a" "0000179207" "00024207" "55" "194" "-3525" "194" "-3525" "c.194-3525T>C" "r.(=)" "p.(=)" "" "0000179208" "00004876" "55" "146" "0" "146" "0" "c.146T>C" "r.(?)" "p.Ile49Thr" "1a" "0000179208" "00024207" "55" "194" "-3474" "194" "-3474" "c.194-3474T>C" "r.(=)" "p.(=)" "" "0000179209" "00004876" "55" "373" "0" "373" "0" "c.373G>C" "r.(?)" "p.Asp125His" "2" "0000179209" "00024207" "55" "416" "0" "416" "0" "c.*17G>C" "r.(=)" "p.(=)" "" "0000179210" "00004876" "55" "47" "0" "47" "0" "c.47T>G" "r.(?)" "p.Leu16Arg" "1a" "0000179210" "00024207" "55" "194" "-3573" "194" "-3573" "c.194-3573T>G" "r.(=)" "p.(=)" "" "0000179211" "00004876" "90" "88" "0" "88" "0" "c.88del" "r.(?)" "p.Ala30fs" "1a" "0000179211" "00024207" "90" "194" "-3532" "194" "-3532" "c.194-3532del" "r.(=)" "p.(=)" "" "0000179212" "00004876" "55" "149" "0" "149" "0" "c.149A>C" "r.(?)" "p.Gln50Pro" "1a" "0000179212" "00024207" "55" "194" "-3471" "194" "-3471" "c.194-3471A>C" "r.(=)" "p.(=)" "" "0000179213" "00004876" "55" "170" "0" "170" "0" "c.170C>T" "r.(?)" "p.Ala57Val" "2" "0000179213" "00024207" "55" "213" "0" "213" "0" "c.213C>T" "r.(=)" "p.(=)" "" "0000179214" "00004876" "55" "149" "0" "149" "0" "c.149A>G" "r.(?)" "p.Gln50Arg" "1a" "0000179214" "00024207" "55" "194" "-3471" "194" "-3471" "c.194-3471A>G" "r.(=)" "p.(=)" "" "0000179215" "00004876" "90" "199" "0" "199" "0" "c.199G>A" "r.(?)" "p.Gly67Ser" "2" "0000179215" "00024207" "90" "242" "0" "242" "0" "c.242G>A" "r.(?)" "p.(Arg81Gln)" "" "0000179216" "00004876" "90" "44" "0" "44" "0" "c.44G>A" "r.(?)" "p.Trp15X" "1a" "0000179216" "00024207" "90" "194" "-3576" "194" "-3576" "c.194-3576G>A" "r.(=)" "p.(=)" "" "0000179217" "00004876" "55" "352" "0" "352" "0" "c.352G>A" "r.(?)" "p.Ala118Thr" "2" "0000179217" "00024207" "55" "395" "0" "395" "0" "c.395G>A" "r.(?)" "p.(Gly132Asp)" "" "0000179218" "00004876" "90" "172" "0" "172" "0" "c.172C>T" "r.(?)" "p.Arg58X" "2" "0000179218" "00024207" "90" "215" "0" "215" "0" "c.215C>T" "r.(?)" "p.(Pro72Leu)" "" "0000179219" "00004876" "55" "240" "0" "253" "0" "c.240_253del" "r.(?)" "p.Pro81fs" "2" "0000179219" "00024207" "55" "283" "0" "296" "0" "c.283_296del" "r.(?)" "p.(Thr95Leufs*61)" "" "0000179220" "00004876" "55" "176" "0" "176" "0" "c.176T>G" "r.(?)" "p.Val59Gly" "2" "0000179220" "00024207" "55" "219" "0" "219" "0" "c.219T>G" "r.(?)" "p.(Ser73Arg)" "" "0000179221" "00004876" "90" "104" "0" "104" "0" "c.104G>C" "r.(?)" "p.Gly35Ala" "1a" "0000179221" "00024207" "90" "194" "-3516" "194" "-3516" "c.194-3516G>C" "r.(=)" "p.(=)" "" "0000179222" "00004876" "55" "442" "0" "442" "0" "c.442G>A" "r.(?)" "p.Ala148Thr" "2" "0000179222" "00024207" "55" "485" "0" "485" "0" "c.*86G>A" "r.(=)" "p.(=)" "" "0000179223" "00004876" "55" "212" "0" "212" "0" "c.212A>G" "r.(?)" "p.Asn71Ser" "2" "0000179223" "00024207" "55" "255" "0" "255" "0" "c.255A>G" "r.(=)" "p.(=)" "" "0000179224" "00004876" "55" "47" "0" "47" "0" "c.47T>C" "r.(?)" "p.Leu16Pro" "1a" "0000179224" "00024207" "55" "194" "-3573" "194" "-3573" "c.194-3573T>C" "r.(=)" "p.(=)" "" "0000179225" "00004876" "55" "322" "0" "322" "0" "c.322G>A" "r.(?)" "p.Asp108Asn" "2" "0000179225" "00024207" "55" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Arg122Gln)" "" "0000179226" "00004876" "55" "334" "0" "334" "0" "c.334C>G" "r.(?)" "p.Arg112Gly" "2" "0000179226" "00024207" "55" "377" "0" "377" "0" "c.377C>G" "r.(?)" "p.(Pro126Arg)" "" "0000179227" "00004876" "55" "95" "0" "95" "0" "c.95T>C" "r.(?)" "p.Leu32Pro" "1a" "0000179227" "00024207" "55" "194" "-3525" "194" "-3525" "c.194-3525T>C" "r.(=)" "p.(=)" "" "0000179228" "00004876" "55" "146" "0" "146" "0" "c.146T>C" "r.(?)" "p.Ile49Thr" "1a" "0000179228" "00024207" "55" "194" "-3474" "194" "-3474" "c.194-3474T>C" "r.(=)" "p.(=)" "" "0000179229" "00004876" "90" "146" "0" "146" "0" "c.146T>G" "r.(?)" "p.Ile49Ser" "1a" "0000179229" "00024207" "90" "194" "-3474" "194" "-3474" "c.194-3474T>G" "r.(=)" "p.(=)" "" "0000179230" "00004876" "55" "167" "0" "167" "0" "c.167G>T" "r.(?)" "p.Ser56Ile" "2" "0000179230" "00024207" "55" "210" "0" "210" "0" "c.210G>T" "r.(?)" "p.(Gln70His)" "" "0000179231" "00004876" "90" "104" "0" "104" "0" "c.104G>C" "r.(?)" "p.Gly35Ala" "1a" "0000179231" "00024207" "90" "194" "-3516" "194" "-3516" "c.194-3516G>C" "r.(=)" "p.(=)" "" "0000179232" "00004876" "55" "212" "0" "212" "0" "c.212A>G" "r.(?)" "p.Asn71Ser" "2" "0000179232" "00024207" "55" "255" "0" "255" "0" "c.255A>G" "r.(=)" "p.(=)" "" "0000179233" "00004876" "55" "225" "0" "243" "0" "c.225_243del" "r.(?)" "p.Ala76fs" "2" "0000179233" "00024207" "55" "268" "0" "286" "0" "c.268_286del" "r.(?)" "p.(Arg90Valfs*76)" "" "0000179234" "00004876" "90" "335" "0" "337" "0" "c.335_337dup" "r.(?)" "p.(Arg112dup)" "2" "0000179234" "00024207" "90" "378" "0" "380" "0" "c.378_380dup" "r.(?)" "p.(Ser127dup)" "" "0000179235" "00004876" "55" "47" "0" "47" "0" "c.47T>C" "r.(?)" "p.Leu16Pro" "1a" "0000179235" "00024207" "55" "194" "-3573" "194" "-3573" "c.194-3573T>C" "r.(=)" "p.(=)" "" "0000179236" "00004876" "90" "52" "0" "57" "0" "c.52_57dup" "r.(?)" "p.Thr18_Ala19dup" "1a" "0000179236" "00024207" "90" "194" "-3568" "194" "-3563" "c.194-3568_194-3563dup" "r.(=)" "p.(=)" "" "0000179237" "00004876" "55" "68" "0" "68" "0" "c.68G>A" "r.(?)" "p.Gly23Asp" "1a" "0000179237" "00024207" "55" "194" "-3552" "194" "-3552" "c.194-3552G>A" "r.(=)" "p.(=)" "" "0000179238" "00004876" "55" "185" "0" "185" "0" "c.185T>C" "r.(?)" "p.Leu62Pro" "2" "0000179238" "00024207" "55" "228" "0" "228" "0" "c.228T>C" "r.(=)" "p.(=)" "" "0000179239" "00004876" "90" "202" "0" "203" "0" "c.202_203delinsTT" "" "p.Ala68Leu" "2" "0000179239" "00024207" "00" "245" "0" "246" "0" "c.245_246delinsTT" "r.(?)" "p.(Arg82Leu)" "" "0000179240" "00004876" "55" "213" "0" "213" "0" "c.213C>A" "r.(?)" "p.Asn71Lys" "2" "0000179240" "00024207" "55" "256" "0" "256" "0" "c.256C>A" "r.(?)" "p.(Leu86Met)" "" "0000179241" "00004876" "55" "149" "0" "149" "0" "c.149A>G" "r.(?)" "p.Gln50Arg" "1a" "0000179241" "00024207" "55" "194" "-3471" "194" "-3471" "c.194-3471A>G" "r.(=)" "p.(=)" "" "0000179242" "00004876" "90" "172" "0" "172" "0" "c.172C>T" "r.(?)" "p.Arg58X" "2" "0000179242" "00024207" "90" "215" "0" "215" "0" "c.215C>T" "r.(?)" "p.(Pro72Leu)" "" "0000179243" "00004876" "55" "9" "0" "32" "0" "c.9_32dup" "r.(?)" "p.Met1_Ser8dup (or p.Ala4_Pro11dup)" "1a" "0000179243" "00024207" "55" "194" "-3611" "194" "-3588" "c.194-3611_194-3588dup24" "r.(=)" "p.(=)" "" "0000179244" "00004876" "55" "170" "0" "170" "0" "c.170C>T" "r.(?)" "p.Ala57Val" "2" "0000179244" "00024207" "55" "213" "0" "213" "0" "c.213C>T" "r.(=)" "p.(=)" "" "0000179245" "00004876" "55" "71" "0" "71" "0" "c.71G>C" "r.(?)" "p.Arg24Pro" "1a" "0000179245" "00024207" "55" "194" "-3549" "194" "-3549" "c.194-3549G>C" "r.(=)" "p.(=)" "" "0000179246" "00004876" "90" "457" "1" "457" "1" "c.457+1G>T" "r.spl" "p.?" "2i" "0000179246" "00024207" "90" "500" "1" "500" "1" "c.*101+1G>T" "r.spl?" "p.?" "" "0000179247" "00004876" "55" "47" "0" "47" "0" "c.47T>G" "r.(?)" "p.Leu16Arg" "1a" "0000179247" "00024207" "55" "194" "-3573" "194" "-3573" "c.194-3573T>G" "r.(=)" "p.(=)" "" "0000179248" "00004876" "55" "352" "0" "352" "0" "c.352G>A" "r.(?)" "p.Ala118Thr" "2" "0000179248" "00024207" "55" "395" "0" "395" "0" "c.395G>A" "r.(?)" "p.(Gly132Asp)" "" "0000179249" "00004876" "55" "240" "0" "253" "0" "c.240_253del" "r.(?)" "p.Pro81fs" "2" "0000179249" "00024207" "55" "283" "0" "296" "0" "c.283_296del" "r.(?)" "p.(Thr95Leufs*61)" "" "0000179250" "00004876" "55" "176" "0" "176" "0" "c.176T>G" "r.(?)" "p.Val59Gly" "2" "0000179250" "00024207" "55" "219" "0" "219" "0" "c.219T>G" "r.(?)" "p.(Ser73Arg)" "" "0000179251" "00004876" "55" "442" "0" "442" "0" "c.442G>A" "r.(?)" "p.Ala148Thr" "2" "0000179251" "00024207" "55" "485" "0" "485" "0" "c.*86G>A" "r.(=)" "p.(=)" "" "0000179252" "00004876" "90" "159" "0" "159" "0" "c.159G>C" "r.(?)" "p.Met53Ile" "2" "0000179252" "00024207" "90" "202" "0" "202" "0" "c.202G>C" "r.(?)" "p.(Asp68His)" "" "0000179253" "00004876" "90" "260" "0" "260" "0" "c.260G>C" "r.(?)" "p.Arg87Pro" "2" "0000179253" "00024207" "90" "303" "0" "303" "0" "c.303G>C" "r.(=)" "p.(=)" "" "0000179254" "00004876" "55" "68" "0" "68" "0" "c.68G>A" "r.(?)" "p.Gly23Asp" "1a" "0000179254" "00024207" "55" "194" "-3552" "194" "-3552" "c.194-3552G>A" "r.(=)" "p.(=)" "" "0000179255" "00004876" "55" "442" "0" "442" "0" "c.442G>A" "r.(?)" "p.Ala148Thr" "2" "0000179255" "00024207" "55" "485" "0" "485" "0" "c.*86G>A" "r.(=)" "p.(=)" "" "0000179256" "00004876" "90" "260" "0" "260" "0" "c.260G>C" "r.(?)" "p.Arg87Pro" "2" "0000179256" "00024207" "90" "303" "0" "303" "0" "c.303G>C" "r.(=)" "p.(=)" "" "0000179257" "00004876" "55" "322" "0" "322" "0" "c.322G>A" "r.(?)" "p.Asp108Asn" "2" "0000179257" "00024207" "55" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Arg122Gln)" "" "0000179258" "00004876" "55" "334" "0" "334" "0" "c.334C>G" "r.(?)" "p.Arg112Gly" "2" "0000179258" "00024207" "55" "377" "0" "377" "0" "c.377C>G" "r.(?)" "p.(Pro126Arg)" "" "0000179259" "00004876" "55" "47" "0" "47" "0" "c.47T>C" "r.(?)" "p.Leu16Pro" "1a" "0000179259" "00024207" "55" "194" "-3573" "194" "-3573" "c.194-3573T>C" "r.(=)" "p.(=)" "" "0000179260" "00004876" "55" "95" "0" "95" "0" "c.95T>C" "r.(?)" "p.Leu32Pro" "1a" "0000179260" "00024207" "55" "194" "-3525" "194" "-3525" "c.194-3525T>C" "r.(=)" "p.(=)" "" "0000179261" "00004876" "90" "104" "0" "104" "0" "c.104G>C" "r.(?)" "p.Gly35Ala" "1a" "0000179261" "00024207" "90" "194" "-3516" "194" "-3516" "c.194-3516G>C" "r.(=)" "p.(=)" "" "0000179262" "00004876" "55" "212" "0" "212" "0" "c.212A>G" "r.(?)" "p.Asn71Ser" "2" "0000179262" "00024207" "55" "255" "0" "255" "0" "c.255A>G" "r.(=)" "p.(=)" "" "0000179263" "00004876" "55" "225" "0" "243" "0" "c.225_243del" "r.(?)" "p.Ala76fs" "2" "0000179263" "00024207" "55" "268" "0" "286" "0" "c.268_286del" "r.(?)" "p.(Arg90Valfs*76)" "" "0000179264" "00004876" "90" "146" "0" "146" "0" "c.146T>G" "r.(?)" "p.Ile49Ser" "1a" "0000179264" "00024207" "90" "194" "-3474" "194" "-3474" "c.194-3474T>G" "r.(=)" "p.(=)" "" "0000179265" "00004876" "55" "167" "0" "167" "0" "c.167G>T" "r.(?)" "p.Ser56Ile" "2" "0000179265" "00024207" "55" "210" "0" "210" "0" "c.210G>T" "r.(?)" "p.(Gln70His)" "" "0000179266" "00004876" "55" "9" "0" "32" "0" "c.9_32dup" "r.(?)" "p.(Ala4_Pro11dup)" "1a" "0000179266" "00024207" "55" "194" "-3611" "194" "-3588" "c.194-3611_194-3588dup" "r.(=)" "p.(=)" "" "0000179267" "00004876" "55" "146" "0" "146" "0" "c.146T>C" "r.(?)" "p.Ile49Thr" "1a" "0000179267" "00024207" "55" "194" "-3474" "194" "-3474" "c.194-3474T>C" "r.(=)" "p.(=)" "" "0000179268" "00004876" "90" "335" "0" "337" "0" "c.335_337dup" "r.(?)" "p.(Arg112dup)" "2" "0000179268" "00024207" "90" "375" "0" "377" "0" "c.375_377dup" "r.(?)" "p.(Pro126dup)" "" "0000179269" "00004876" "55" "71" "0" "71" "0" "c.71G>C" "r.(?)" "p.Arg24Pro" "1a" "0000179269" "00024207" "55" "194" "-3549" "194" "-3549" "c.194-3549G>C" "r.(=)" "p.(=)" "" "0000179270" "00004876" "90" "159" "0" "159" "0" "c.159G>C" "r.(?)" "p.Met53Ile" "2" "0000179270" "00024207" "90" "202" "0" "202" "0" "c.202G>C" "r.(?)" "p.(Asp68His)" "" "0000179271" "00004876" "55" "149" "0" "149" "0" "c.149A>G" "r.(?)" "p.Gln50Arg" "1a" "0000179271" "00024207" "55" "194" "-3471" "194" "-3471" "c.194-3471A>G" "r.(=)" "p.(=)" "" "0000179272" "00004876" "90" "172" "0" "172" "0" "c.172C>T" "r.(?)" "p.Arg58X" "2" "0000179272" "00024207" "90" "215" "0" "215" "0" "c.215C>T" "r.(?)" "p.(Pro72Leu)" "" "0000179273" "00004876" "55" "167" "0" "167" "0" "c.167G>T" "r.(?)" "p.Ser56Ile" "2" "0000179273" "00024207" "55" "210" "0" "210" "0" "c.210G>T" "r.(?)" "p.(Gln70His)" "" "0000179274" "00004876" "55" "9" "0" "32" "0" "c.9_32dup" "r.(?)" "p.Met1_Ser8dup (or p.Ala4_Pro11dup)" "1a" "0000179274" "00024207" "55" "194" "-3611" "194" "-3588" "c.194-3611_194-3588dup24" "r.(=)" "p.(=)" "" "0000179275" "00004876" "55" "68" "0" "68" "0" "c.68G>A" "r.(?)" "p.Gly23Asp" "1a" "0000179275" "00024207" "55" "194" "-3552" "194" "-3552" "c.194-3552G>A" "r.(=)" "p.(=)" "" "0000179276" "00004876" "90" "335" "0" "337" "0" "c.335_337dup" "r.(?)" "p.(Arg112dup)" "2" "0000179276" "00024207" "90" "375" "0" "377" "0" "c.375_377dup" "r.(?)" "p.(Pro126dup)" "" "0000179277" "00004876" "55" "71" "0" "71" "0" "c.71G>C" "r.(?)" "p.Arg24Pro" "1a" "0000179277" "00024207" "55" "194" "-3549" "194" "-3549" "c.194-3549G>C" "r.(=)" "p.(=)" "" "0000179278" "00004876" "90" "159" "0" "159" "0" "c.159G>C" "r.(?)" "p.Met53Ile" "2" "0000179278" "00024207" "90" "202" "0" "202" "0" "c.202G>C" "r.(?)" "p.(Asp68His)" "" "0000179279" "00004876" "55" "334" "0" "334" "0" "c.334C>G" "r.(?)" "p.(Arg112Gly)" "2" "0000179279" "00024207" "55" "377" "0" "377" "0" "c.377C>G" "r.(?)" "p.(Pro126Arg)" "" "0000179280" "00004876" "55" "47" "0" "47" "0" "c.47T>C" "r.(?)" "p.Leu16Pro" "1a" "0000179280" "00024207" "55" "194" "-3573" "194" "-3573" "c.194-3573T>C" "r.(=)" "p.(=)" "" "0000179281" "00004876" "55" "442" "0" "442" "0" "c.442G>A" "r.(?)" "p.Ala148Thr" "2" "0000179281" "00024207" "55" "485" "0" "485" "0" "c.*86G>A" "r.(=)" "p.(=)" "" "0000179282" "00004876" "55" "95" "0" "95" "0" "c.95T>C" "r.(?)" "p.Leu32Pro" "1a" "0000179282" "00024207" "55" "194" "-3525" "194" "-3525" "c.194-3525T>C" "r.(=)" "p.(=)" "" "0000179283" "00004876" "90" "146" "0" "146" "0" "c.146T>G" "r.(?)" "p.Ile49Ser" "1a" "0000179283" "00024207" "90" "194" "-3474" "194" "-3474" "c.194-3474T>G" "r.(=)" "p.(=)" "" "0000179284" "00004876" "90" "260" "0" "260" "0" "c.260G>C" "r.(?)" "p.Arg87Pro" "2" "0000179284" "00024207" "90" "303" "0" "303" "0" "c.303G>C" "r.(=)" "p.(=)" "" "0000179286" "00004876" "55" "71" "0" "71" "0" "c.71G>C" "r.(?)" "p.Arg24Pro" "1a" "0000179286" "00024207" "55" "194" "-3549" "194" "-3549" "c.194-3549G>C" "r.(=)" "p.(=)" "" "0000179287" "00004876" "90" "335" "0" "337" "0" "c.335_337dup" "r.(?)" "p.(Arg112dup)" "2" "0000179287" "00024207" "90" "375" "0" "377" "0" "c.375_377dup" "r.(?)" "p.(Pro126dup)" "" "0000179288" "00004876" "55" "68" "0" "68" "0" "c.68G>A" "r.(?)" "p.Gly23Asp" "1a" "0000179288" "00024207" "55" "194" "-3552" "194" "-3552" "c.194-3552G>A" "r.(=)" "p.(=)" "" "0000179289" "00004876" "55" "167" "0" "167" "0" "c.167G>T" "r.(?)" "p.Ser56Ile" "2" "0000179289" "00024207" "55" "210" "0" "210" "0" "c.210G>T" "r.(?)" "p.(Gln70His)" "" "0000179290" "00004876" "90" "159" "0" "159" "0" "c.159G>C" "r.(?)" "p.Met53Ile" "2" "0000179290" "00024207" "90" "202" "0" "202" "0" "c.202G>C" "r.(?)" "p.(Asp68His)" "" "0000179291" "00004876" "55" "442" "0" "442" "0" "c.442G>A" "r.(?)" "p.Ala148Thr" "2" "0000179291" "00024207" "55" "485" "0" "485" "0" "c.*86G>A" "r.(=)" "p.(=)" "" "0000179292" "00004876" "90" "260" "0" "260" "0" "c.260G>C" "r.(?)" "p.Arg87Pro" "2" "0000179292" "00024207" "90" "303" "0" "303" "0" "c.303G>C" "r.(=)" "p.(=)" "" "0000179293" "00004876" "55" "95" "0" "95" "0" "c.95T>C" "r.(?)" "p.Leu32Pro" "1a" "0000179293" "00024207" "55" "194" "-3525" "194" "-3525" "c.194-3525T>C" "r.(=)" "p.(=)" "" "0000179294" "00004876" "55" "71" "0" "71" "0" "c.71G>C" "r.(?)" "p.Arg24Pro" "1a" "0000179294" "00024207" "55" "194" "-3549" "194" "-3549" "c.194-3549G>C" "r.(=)" "p.(=)" "" "0000179295" "00004876" "55" "442" "0" "442" "0" "c.442G>A" "r.(?)" "p.Ala148Thr" "2" "0000179295" "00024207" "55" "485" "0" "485" "0" "c.*86G>A" "r.(=)" "p.(=)" "" "0000179300" "00004876" "90" "301" "0" "301" "0" "c.301G>T" "r.(?)" "p.(Gly101Trp)" "2" "0000179300" "00024207" "50" "344" "0" "344" "0" "c.344G>T" "r.(?)" "p.(Arg115Leu)" "" "0000179301" "00004876" "90" "159" "0" "159" "0" "c.159G>C" "r.(?)" "p.(Met53Ile)" "2" "0000179301" "00024207" "50" "202" "0" "202" "0" "c.202G>C" "r.(?)" "p.(Asp68His)" "" "0000179302" "00004876" "90" "240" "0" "253" "0" "c.240_253del" "r.(?)" "p.(Pro81Cysfs*34)" "2" "0000179302" "00024207" "90" "283" "0" "296" "0" "c.283_296del" "r.(?)" "p.(Thr95Leufs*61)" "" "0000179303" "00004876" "90" "10" "0" "23" "0" "c.10_23dup" "r.(?)" "p.(Ser8Argfs*23)" "1" "0000179303" "00024207" "50" "194" "-3610" "194" "-3597" "c.194-3610_194-3597dup" "r.(=)" "p.(=)" "" "0000179304" "00004876" "50" "334" "0" "334" "0" "c.334C>G" "r.(?)" "p.(Arg112Gly)" "2" "0000179304" "00024207" "50" "377" "0" "377" "0" "c.377C>G" "r.(?)" "p.(Pro126Arg)" "" "0000188616" "00004876" "90" "377" "0" "377" "0" "c.377T>A" "r.(?)" "p.(Val126Asp)" "2" "0000188616" "00024207" "00" "420" "0" "420" "0" "c.*21T>A" "r.(=)" "p.(=)" "" "0000188617" "00004876" "90" "-34" "0" "-34" "0" "c.-34G>T" "r.(?)" "p.(=)" "1" "0000188617" "00024207" "00" "194" "-3653" "194" "-3653" "c.194-3653G>T" "r.(=)" "p.(=)" "" "0000188618" "00004876" "90" "301" "0" "301" "0" "c.301G>T" "r.(?)" "p.(Gly101Trp)" "2" "0000188618" "00024207" "00" "344" "0" "344" "0" "c.344G>T" "r.(?)" "p.(Arg115Leu)" "" "0000188619" "00004876" "10" "442" "0" "442" "0" "c.442G>A" "r.(?)" "p.(Ala148Thr)" "2" "0000188619" "00024207" "00" "485" "0" "485" "0" "c.*86G>A" "r.(=)" "p.(=)" "" "0000188620" "00004876" "10" "-33" "0" "-33" "0" "c.-33G>C" "r.(?)" "p.(=)" "1" "0000188620" "00024207" "00" "194" "-3652" "194" "-3652" "c.194-3652G>C" "r.(=)" "p.(=)" "" "0000188621" "00004876" "50" "-25" "0" "-25" "0" "c.-25C>T" "r.(?)" "p.(=)" "1" "0000188621" "00024207" "00" "194" "-3644" "194" "-3644" "c.194-3644C>T" "r.(=)" "p.(=)" "" "0000266624" "00004876" "10" "500" "0" "500" "0" "c.*29G>C" "r.(=)" "p.(=)" "" "0000266624" "00024207" "10" "543" "0" "543" "0" "c.*144G>C" "r.(=)" "p.(=)" "" "0000266625" "00004876" "70" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ala60Val)" "" "0000266625" "00024207" "70" "222" "0" "222" "0" "c.222C>T" "r.(?)" "p.(Gly74=)" "" "0000266626" "00004876" "50" "223" "0" "223" "0" "c.223C>T" "r.(?)" "p.(Pro75Ser)" "" "0000266626" "00024207" "50" "266" "0" "266" "0" "c.266C>T" "r.(?)" "p.(Pro89Leu)" "" "0000266627" "00004876" "90" "225" "0" "243" "0" "c.225_243del" "r.(?)" "p.(Ala76CysfsTer64)" "" "0000266627" "00024207" "90" "268" "0" "286" "0" "c.268_286del" "r.(?)" "p.(Arg90ValfsTer76)" "" "0000266628" "00004876" "70" "352" "0" "352" "0" "c.352G>A" "r.(?)" "p.(Ala118Thr)" "" "0000266628" "00024207" "70" "395" "0" "395" "0" "c.395G>A" "r.(?)" "p.(Gly132Asp)" "" "0000266629" "00004876" "70" "67" "0" "67" "0" "c.67G>C" "r.(?)" "p.(Gly23Arg)" "" "0000266629" "00024207" "70" "194" "-3553" "194" "-3553" "c.194-3553G>C" "r.(=)" "p.(=)" "" "0000268086" "00004876" "30" "318" "0" "318" "0" "c.318G>A" "r.(?)" "p.(Val106=)" "" "0000268086" "00024207" "30" "361" "0" "361" "0" "c.361G>A" "r.(?)" "p.(Ala121Thr)" "" "0000269944" "00004876" "90" "330" "0" "330" "0" "c.330G>A" "r.(?)" "p.(Trp110Ter)" "" "0000269944" "00024207" "90" "373" "0" "373" "0" "c.373G>A" "r.(?)" "p.(Gly125Arg)" "" "0000269945" "00004876" "30" "442" "0" "442" "0" "c.442G>A" "r.(?)" "p.(Ala148Thr)" "" "0000269945" "00024207" "30" "485" "0" "485" "0" "c.*86G>A" "r.(=)" "p.(=)" "" "0000273074" "00004876" "10" "500" "0" "500" "0" "c.*29G>C" "r.(=)" "p.(=)" "" "0000273074" "00024207" "10" "543" "0" "543" "0" "c.*144G>C" "r.(=)" "p.(=)" "" "0000273076" "00004876" "10" "442" "0" "442" "0" "c.442G>A" "r.(?)" "p.(Ala148Thr)" "" "0000273076" "00024207" "10" "485" "0" "485" "0" "c.*86G>A" "r.(=)" "p.(=)" "" "0000357940" "00004876" "90" "225" "0" "243" "0" "c.225_243del" "r.(225_243del)" "p.Ala76Cysfs*64" "2" "0000357941" "00004876" "90" "225" "0" "243" "0" "c.225_243del" "r.(225_243del)" "p.(Ala76Cysfs*64)" "2" "0000499734" "00004876" "70" "301" "0" "301" "0" "c.301G>T" "r.(?)" "p.(Gly101Trp)" "2" "0000499735" "00004876" "50" "52" "0" "57" "0" "c.52_57dup" "r.(?)" "p.(Thr18_Ala19dup)" "1" "0000499736" "00004876" "50" "430" "0" "430" "0" "c.430C>T" "r.(?)" "p.(Arg144Cys)" "2" "0000499737" "00004876" "50" "301" "0" "301" "0" "c.301G>T" "r.(?)" "p.(Gly101Trp)" "2" "0000499738" "00004876" "50" "150" "40" "150" "40" "c.150+40C>T" "r.(=)" "p.(=)" "1i" "0000499738" "00024207" "50" "194" "-3430" "194" "-3430" "c.194-3430C>T" "r.(=)" "p.(=)" "1i" "0000499740" "00004876" "50" "150" "37" "150" "37" "c.150+37G>C" "r.(=)" "p.(=)" "1i" "0000499740" "00024207" "50" "194" "-3433" "194" "-3433" "c.194-3433G>C" "r.(=)" "p.(=)" "1i" "0000500446" "00004876" "90" "71" "0" "71" "0" "c.71G>C" "r.(?)" "p.(Arg24Pro)" "" "0000537818" "00004876" "10" "499" "0" "499" "0" "c.*28dup" "r.(?)" "p.(=)" "" "0000537818" "00024207" "10" "542" "0" "542" "0" "c.*143dup" "r.(?)" "p.(=)" "" "0000537819" "00004876" "30" "413" "0" "413" "0" "c.413G>C" "r.(?)" "p.(Arg138Thr)" "" "0000537819" "00024207" "30" "456" "0" "456" "0" "c.*57G>C" "r.(=)" "p.(=)" "" "0000537820" "00004876" "30" "318" "0" "318" "0" "c.318G>A" "r.(?)" "p.(Val106=)" "" "0000537820" "00024207" "30" "361" "0" "361" "0" "c.361G>A" "r.(?)" "p.(Ala121Thr)" "" "0000537821" "00004876" "90" "296" "0" "296" "0" "c.296G>C" "r.(?)" "p.(Arg99Pro)" "" "0000537821" "00024207" "90" "339" "0" "339" "0" "c.339G>C" "r.(?)" "p.(Pro113=)" "" "0000537822" "00004876" "90" "225" "0" "243" "0" "c.225_243del" "r.(?)" "p.(Ala76CysfsTer64)" "" "0000537822" "00024207" "90" "268" "0" "286" "0" "c.268_286del" "r.(?)" "p.(Arg90ValfsTer76)" "" "0000537823" "00004876" "50" "210" "0" "210" "0" "c.210C>T" "r.(?)" "p.(Pro70=)" "" "0000537823" "00024207" "50" "253" "0" "253" "0" "c.253C>T" "r.(?)" "p.(Gln85Ter)" "" "0000537824" "00004876" "30" "150" "37" "150" "37" "c.150+37G>C" "r.(=)" "p.(=)" "" "0000537824" "00024207" "30" "194" "-3433" "194" "-3433" "c.194-3433G>C" "r.(=)" "p.(=)" "" "0000537825" "00004876" "30" "150" "37" "150" "37" "c.150+37G>C" "r.(=)" "p.(=)" "" "0000537825" "00024207" "30" "194" "-3433" "194" "-3433" "c.194-3433G>C" "r.(=)" "p.(=)" "" "0000537826" "00004876" "50" "58" "0" "58" "0" "c.58G>T" "r.(?)" "p.(Ala20Ser)" "" "0000537826" "00024207" "50" "194" "-3562" "194" "-3562" "c.194-3562G>T" "r.(=)" "p.(=)" "" "0000537827" "00004876" "90" "47" "0" "47" "0" "c.47T>G" "r.(?)" "p.(Leu16Arg)" "" "0000537827" "00024207" "90" "194" "-3573" "194" "-3573" "c.194-3573T>G" "r.(=)" "p.(=)" "" "0000537828" "00004876" "30" "-19433" "0" "-19433" "0" "c.-19433G>T" "r.(?)" "p.(=)" "" "0000537828" "00024207" "30" "72" "0" "72" "0" "c.72G>T" "r.(?)" "p.(Val24=)" "" "0000612062" "00004876" "10" "540" "0" "540" "0" "c.*69C>T" "r.(=)" "p.(=)" "" "0000612062" "00024207" "10" "583" "0" "583" "0" "c.*184C>T" "r.(=)" "p.(=)" "" "0000612063" "00004876" "10" "500" "0" "500" "0" "c.*29G>C" "r.(=)" "p.(=)" "" "0000612063" "00024207" "10" "543" "0" "543" "0" "c.*144G>C" "r.(=)" "p.(=)" "" "0000612064" "00004876" "90" "-19312" "0" "-19312" "0" "c.-19312G>C" "r.(?)" "p.(=)" "" "0000612064" "00024207" "90" "193" "0" "193" "0" "c.193G>C" "r.(?)" "p.(Gly65Arg)" "" "0000622247" "00004876" "30" "387" "0" "387" "0" "c.387C>T" "r.(?)" "p.(Tyr129=)" "" "0000622247" "00024207" "30" "430" "0" "430" "0" "c.*31C>T" "r.(=)" "p.(=)" "" "0000652690" "00004876" "90" "377" "0" "377" "0" "c.377T>A" "r.(?)" "p.(Val126Asp)" "" "0000652690" "00024207" "90" "420" "0" "420" "0" "c.*21T>A" "r.(=)" "p.(=)" "" "0000652691" "00004876" "70" "238" "0" "238" "0" "c.238C>T" "r.(?)" "p.(Arg80*)" "" "0000652691" "00024207" "70" "281" "0" "281" "0" "c.281C>T" "r.(?)" "p.(Pro94Leu)" "" "0000652692" "00004876" "50" "206" "0" "206" "0" "c.206A>G" "r.(?)" "p.(Glu69Gly)" "" "0000652692" "00024207" "50" "249" "0" "249" "0" "c.249A>G" "r.(=)" "p.(=)" "" "0000653085" "00004876" "50" "301" "0" "301" "0" "c.301G>T" "r.(?)" "p.(Gly101Trp)" "" "0000653085" "00024207" "50" "344" "0" "344" "0" "c.344G>T" "r.(?)" "p.(Arg115Leu)" "" "0000653185" "00004876" "50" "457" "0" "457" "0" "c.457G>A" "r.(?)" "p.(Asp153Asn)" "" "0000653185" "00024207" "50" "500" "0" "500" "0" "c.*101G>A" "r.(=)" "p.(=)" "" "0000653186" "00004876" "10" "442" "0" "442" "0" "c.442G>A" "r.(?)" "p.(Ala148Thr)" "" "0000653186" "00024207" "10" "485" "0" "485" "0" "c.*86G>A" "r.(=)" "p.(=)" "" "0000656328" "00004876" "10" "442" "0" "442" "0" "c.442G>A" "r.(?)" "p.(Ala148Thr)" "" "0000656328" "00024207" "10" "485" "0" "485" "0" "c.*86G>A" "r.(=)" "p.(=)" "" "0000656329" "00004876" "10" "442" "0" "442" "0" "c.442G>A" "r.(?)" "p.(Ala148Thr)" "" "0000656329" "00024207" "10" "485" "0" "485" "0" "c.*86G>A" "r.(=)" "p.(=)" "" "0000678650" "00004876" "50" "369" "0" "369" "0" "c.369T>A" "r.(?)" "p.(His123Gln)" "" "0000678650" "00024207" "50" "412" "0" "412" "0" "c.*13T>A" "r.(=)" "p.(=)" "" "0000678651" "00004876" "30" "150" "37" "150" "37" "c.150+37G>C" "r.(=)" "p.(=)" "" "0000678651" "00024207" "30" "194" "-3433" "194" "-3433" "c.194-3433G>C" "r.(=)" "p.(=)" "" "0000690508" "00004876" "30" "318" "0" "318" "0" "c.318G>A" "r.(?)" "p.(Val106=)" "" "0000690508" "00024207" "30" "361" "0" "361" "0" "c.361G>A" "r.(?)" "p.(Ala121Thr)" "" "0000690509" "00004876" "90" "225" "0" "243" "0" "c.225_243del" "r.(?)" "p.(Ala76CysfsTer64)" "" "0000690509" "00024207" "90" "268" "0" "286" "0" "c.268_286del" "r.(?)" "p.(Arg90ValfsTer76)" "" "0000789653" "00004876" "70" "212" "0" "212" "0" "c.212A>T" "r.(?)" "p.(Asn71Ile)" "2" "0000804061" "00004876" "10" "540" "0" "540" "0" "c.*69C>T" "r.(=)" "p.(=)" "" "0000804061" "00024207" "10" "583" "0" "583" "0" "c.*184C>T" "r.(=)" "p.(=)" "" "0000804062" "00004876" "10" "500" "0" "500" "0" "c.*29G>C" "r.(=)" "p.(=)" "" "0000804062" "00024207" "10" "543" "0" "543" "0" "c.*144G>C" "r.(=)" "p.(=)" "" "0000804063" "00004876" "10" "442" "0" "442" "0" "c.442G>A" "r.(?)" "p.(Ala148Thr)" "" "0000804063" "00024207" "10" "485" "0" "485" "0" "c.*86G>A" "r.(=)" "p.(=)" "" "0000804064" "00004876" "90" "159" "0" "159" "0" "c.159G>A" "r.(?)" "p.(Met53Ile)" "" "0000804064" "00024207" "90" "202" "0" "202" "0" "c.202G>A" "r.(?)" "p.(Asp68Asn)" "" "0000804065" "00004876" "30" "150" "37" "150" "37" "c.150+37G>C" "r.(=)" "p.(=)" "" "0000804065" "00024207" "30" "194" "-3433" "194" "-3433" "c.194-3433G>C" "r.(=)" "p.(=)" "" "0000804066" "00004876" "30" "93" "0" "93" "0" "c.93G>A" "r.(?)" "p.(Leu31=)" "" "0000804066" "00024207" "30" "194" "-3527" "194" "-3527" "c.194-3527G>A" "r.(=)" "p.(=)" "" "0000804067" "00004876" "90" "47" "0" "47" "0" "c.47T>G" "r.(?)" "p.(Leu16Arg)" "" "0000804067" "00024207" "90" "194" "-3573" "194" "-3573" "c.194-3573T>G" "r.(=)" "p.(=)" "" "0000839293" "00004876" "70" "158" "0" "158" "0" "c.158dup" "r.(158dup)" "p.(Met53Ilefs*67)" "2" "0000839293" "00024207" "70" "201" "0" "201" "0" "c.201dup" "r.(201dup)" "p.(Asp68*)" "2" "0000852228" "00004876" "30" "501" "0" "501" "0" "c.*30G>A" "r.(=)" "p.(=)" "" "0000852228" "00024207" "30" "544" "0" "544" "0" "c.*145G>A" "r.(=)" "p.(=)" "" "0000852229" "00004876" "50" "151" "-14" "151" "-14" "c.151-14G>A" "r.(=)" "p.(=)" "" "0000852229" "00024207" "50" "194" "-14" "194" "-14" "c.194-14G>A" "r.(=)" "p.(=)" "" "0000852230" "00004876" "50" "122" "0" "122" "0" "c.122C>G" "r.(?)" "p.(Pro41Arg)" "" "0000852230" "00024207" "50" "194" "-3498" "194" "-3498" "c.194-3498C>G" "r.(=)" "p.(=)" "" "0000861606" "00004876" "30" "318" "0" "318" "0" "c.318G>A" "r.(?)" "p.(Val106=)" "" "0000861606" "00024207" "30" "361" "0" "361" "0" "c.361G>A" "r.(?)" "p.(Ala121Thr)" "" "0000861607" "00004876" "90" "225" "0" "243" "0" "c.225_243del" "r.(?)" "p.(Ala76CysfsTer64)" "" "0000861607" "00024207" "90" "268" "0" "286" "0" "c.268_286del" "r.(?)" "p.(Arg90ValfsTer76)" "" "0000861608" "00004876" "30" "150" "37" "150" "37" "c.150+37G>C" "r.(=)" "p.(=)" "" "0000861608" "00024207" "30" "194" "-3433" "194" "-3433" "c.194-3433G>C" "r.(=)" "p.(=)" "" "0000861609" "00004876" "90" "9" "0" "32" "0" "c.9_32dup" "r.(?)" "p.(Ala4_Pro11dup)" "" "0000861609" "00024207" "90" "194" "-3611" "194" "-3588" "c.194-3611_194-3588dup" "r.(=)" "p.(=)" "" "0000861610" "00004876" "90" "-34" "0" "-34" "0" "c.-34G>T" "r.(?)" "p.(=)" "" "0000861610" "00024207" "90" "194" "-3653" "194" "-3653" "c.194-3653G>T" "r.(=)" "p.(=)" "" "0000877199" "00004876" "30" "151" "-223" "151" "-223" "c.151-223G>A" "r.(?)" "p.(?)" "" "0000888784" "00004876" "10" "442" "0" "442" "0" "c.442G>A" "r.(?)" "p.(Ala148Thr)" "" "0000888784" "00024207" "10" "485" "0" "485" "0" "c.*86G>A" "r.(=)" "p.(=)" "" "0000888785" "00004876" "30" "318" "0" "318" "0" "c.318G>A" "r.(?)" "p.(Val106=)" "" "0000888785" "00024207" "30" "361" "0" "361" "0" "c.361G>A" "r.(?)" "p.(Ala121Thr)" "" "0000888786" "00004876" "90" "225" "0" "243" "0" "c.225_243del" "r.(?)" "p.(Ala76CysfsTer64)" "" "0000888786" "00024207" "90" "268" "0" "286" "0" "c.268_286del" "r.(?)" "p.(Arg90ValfsTer76)" "" "0000888787" "00004876" "90" "225" "0" "243" "0" "c.225_243del" "r.(?)" "p.(Ala76CysfsTer64)" "" "0000888787" "00024207" "90" "268" "0" "286" "0" "c.268_286del" "r.(?)" "p.(Arg90ValfsTer76)" "" "0000888788" "00004876" "10" "151" "-4" "151" "-4" "c.151-4G>C" "r.spl?" "p.?" "" "0000888788" "00024207" "10" "194" "-4" "194" "-4" "c.194-4G>C" "r.spl?" "p.?" "" "0000888789" "00004876" "90" "71" "0" "71" "0" "c.71G>C" "r.(?)" "p.(Arg24Pro)" "" "0000888789" "00024207" "90" "194" "-3549" "194" "-3549" "c.194-3549G>C" "r.(=)" "p.(=)" "" "0000888790" "00004876" "50" "58" "0" "58" "0" "c.58G>T" "r.(?)" "p.(Ala20Ser)" "" "0000888790" "00024207" "50" "194" "-3562" "194" "-3562" "c.194-3562G>T" "r.(=)" "p.(=)" "" "0000900638" "00004876" "70" "322" "0" "322" "0" "c.322G>C" "r.(?)" "p.(Asp108His)" "" "0000900666" "00004876" "70" "322" "0" "322" "0" "c.322G>C" "r.(?)" "p.(Asp108His)" "" "0000902150" "00024207" "30" "193" "32" "193" "32" "c.193+32A>T" "r.(?)" "p.(?)" "" "0000913141" "00004876" "70" "149" "0" "149" "0" "c.149A>C" "r.(?)" "p.(Gln50Pro)" "" "0000913141" "00024207" "70" "194" "-3471" "194" "-3471" "c.194-3471A>C" "r.(=)" "p.(=)" "" "0000917030" "00004876" "90" "229" "0" "229" "0" "c.229A>C" "r.(?)" "p.(Thr77Pro)" "" "0000925028" "00004876" "10" "174" "0" "174" "0" "c.174A>C" "r.(?)" "p.(Arg58=)" "" "0000925028" "00024207" "10" "217" "0" "217" "0" "c.217A>C" "r.(?)" "p.(Ser73Arg)" "" "0000929581" "00004876" "30" "318" "0" "318" "0" "c.318G>A" "r.(?)" "p.(Val106=)" "" "0000929581" "00024207" "30" "361" "0" "361" "0" "c.361G>A" "r.(?)" "p.(Ala121Thr)" "" "0000929582" "00004876" "30" "27" "0" "27" "0" "c.27G>A" "r.(?)" "p.(Met9Ile)" "" "0000929582" "00024207" "30" "194" "-3593" "194" "-3593" "c.194-3593G>A" "r.(=)" "p.(=)" "" "0000929583" "00004876" "90" "-34" "0" "-34" "0" "c.-34G>T" "r.(?)" "p.(=)" "" "0000929583" "00024207" "90" "194" "-3653" "194" "-3653" "c.194-3653G>T" "r.(=)" "p.(=)" "" "0000939701" "00004876" "90" "339" "0" "340" "0" "c.339_340delinsCT" "r.(?)" "p.(Pro114Ser)" "" "0000949259" "00004876" "70" "352" "0" "352" "0" "c.352G>A" "r.(?)" "p.(Ala118Thr)" "" "0000949259" "00024207" "70" "395" "0" "395" "0" "c.395G>A" "r.(?)" "p.(Gly132Asp)" "" "0000949260" "00004876" "50" "150" "37" "150" "37" "c.150+37G>C" "r.(=)" "p.(=)" "" "0000949260" "00024207" "50" "194" "-3433" "194" "-3433" "c.194-3433G>C" "r.(=)" "p.(=)" "" "0000949261" "00004876" "90" "-19311" "0" "-19311" "0" "c.-19311G>A" "r.(?)" "p.(=)" "" "0000949261" "00024207" "90" "193" "1" "193" "1" "c.193+1G>A" "r.spl?" "p.?" "" "0000951844" "00004876" "90" "28" "0" "28" "0" "c.28G>T" "r.(?)" "p.(Glu10Ter)" "" "0000952206" "00004876" "90" "28" "0" "28" "0" "c.28G>T" "r.(?)" "p.(Glu10*)" "" "0000965359" "00004876" "70" "202" "0" "202" "0" "c.202G>C" "r.(?)" "p.(Ala68Pro)" "" "0000965359" "00024207" "70" "245" "0" "245" "0" "c.245G>C" "r.(?)" "p.(Arg82Pro)" "" "0000965360" "00004876" "50" "202" "0" "202" "0" "c.202G>C" "r.(?)" "p.(Ala68Pro)" "" "0000965360" "00024207" "50" "245" "0" "245" "0" "c.245G>C" "r.(?)" "p.(Arg82Pro)" "" "0000978658" "00004876" "30" "150" "40" "150" "40" "c.150+40C>T" "r.(=)" "p.(=)" "" "0000978658" "00024207" "30" "194" "-3430" "194" "-3430" "c.194-3430C>T" "r.(=)" "p.(=)" "" "0000978659" "00004876" "50" "11" "0" "11" "0" "c.11C>G" "r.(?)" "p.(Ala4Gly)" "" "0000978659" "00024207" "50" "194" "-3609" "194" "-3609" "c.194-3609C>G" "r.(=)" "p.(=)" "" "0000978660" "00004876" "30" "-33" "0" "-33" "0" "c.-33G>C" "r.(?)" "p.(=)" "" "0000978660" "00024207" "30" "194" "-3652" "194" "-3652" "c.194-3652G>C" "r.(=)" "p.(=)" "" "0000978661" "00004876" "10" "-191" "0" "-191" "0" "c.-191G>A" "r.(?)" "p.(=)" "" "0000978661" "00024207" "10" "194" "-3810" "194" "-3810" "c.194-3810G>A" "r.(=)" "p.(=)" "" "0000997816" "00004876" "70" "334" "0" "334" "0" "c.334C>G" "r.(?)" "p.(Arg112Gly)" "" "0000997816" "00024207" "70" "377" "0" "377" "0" "c.377C>G" "r.(?)" "p.(Pro126Arg)" "" "0000997817" "00004876" "90" "148" "0" "148" "0" "c.148C>T" "r.(?)" "p.(Gln50*)" "" "0000997817" "00024207" "90" "194" "-3472" "194" "-3472" "c.194-3472C>T" "r.(=)" "p.(=)" "" "0000997818" "00004876" "50" "-95" "0" "-95" "0" "c.-95G>A" "r.(?)" "p.(=)" "" "0000997818" "00024207" "50" "194" "-3714" "194" "-3714" "c.194-3714G>A" "r.(=)" "p.(=)" "" "0001014526" "00004876" "70" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Leu65Pro)" "" "0001014526" "00024207" "70" "237" "0" "237" "0" "c.237T>C" "r.(?)" "p.(=)" "" "0001014527" "00004876" "90" "143" "0" "143" "0" "c.143C>T" "r.(?)" "p.(Pro48Leu)" "" "0001014527" "00024207" "90" "194" "-3477" "194" "-3477" "c.194-3477C>T" "r.(=)" "p.(=)" "" "0001017802" "00024207" "90" "192" "0" "192" "0" "c.192A>T" "r.(?)" "p.(Pro64=)" "" "0001025654" "00004876" "90" "387" "0" "387" "0" "c.387C>A" "r.(?)" "p.(Tyr129*)" "" "0001025654" "00024207" "90" "430" "0" "430" "0" "c.*31C>A" "r.(=)" "p.(=)" "" "0001025655" "00004876" "70" "352" "0" "352" "0" "c.352G>A" "r.(?)" "p.(Ala118Thr)" "" "0001025655" "00024207" "70" "395" "0" "395" "0" "c.395G>A" "r.(?)" "p.(Gly132Asp)" "" "0001025656" "00004876" "90" "225" "0" "243" "0" "c.225_243del" "r.(?)" "p.(Ala76CysfsTer64)" "" "0001025656" "00024207" "90" "268" "0" "286" "0" "c.268_286del" "r.(?)" "p.(Arg90ValfsTer76)" "" "0001025657" "00004876" "70" "199" "0" "199" "0" "c.199G>A" "r.(?)" "p.(Gly67Ser)" "" "0001025657" "00024207" "70" "242" "0" "242" "0" "c.242G>A" "r.(?)" "p.(Arg81Gln)" "" "0001025658" "00004876" "70" "149" "0" "149" "0" "c.149A>G" "r.(?)" "p.(Gln50Arg)" "" "0001025658" "00024207" "70" "194" "-3471" "194" "-3471" "c.194-3471A>G" "r.(=)" "p.(=)" "" "0001025659" "00004876" "70" "9" "0" "32" "0" "c.9_32dup" "r.(?)" "p.(Ala4_Pro11dup)" "" "0001025659" "00024207" "70" "194" "-3611" "194" "-3588" "c.194-3611_194-3588dup" "r.(=)" "p.(=)" "" "0001029895" "00004876" "70" "95" "0" "112" "0" "c.95_112del" "r.(?)" "p.(Leu32_Leu37del)" "" "0001029901" "00004876" "70" "79" "0" "79" "0" "c.79G>T" "r.(?)" "p.(Glu27Ter)" "" "0001030032" "00004876" "70" "52" "0" "56" "0" "c.52_56del" "r.(?)" "p.(Thr18ArgfsTer24)" "" "0001030033" "00004876" "50" "68" "0" "68" "0" "c.68G>T" "r.(?)" "p.(Gly23Val)" "" "0001030917" "00024207" "50" "361" "0" "361" "0" "c.361G>A" "r.(?)" "p.(Ala121Thr)" "" "0001037465" "00004876" "90" "31" "0" "32" "0" "c.31_32insGGCGGCGGGGAGCAGCATGGAGCC" "r.(?)" "p.(Glu10_Pro11insArgArgArgGlyAlaAlaTrpSer)" "" "0001037465" "00024207" "90" "194" "-3589" "194" "-3588" "c.194-3589_194-3588insGGCGGCGGGGAGCAGCATGGAGCC" "r.(=)" "p.(=)" "" "0001044623" "00004876" "70" "83" "0" "100" "0" "c.83_100del" "r.(?)" "p.(Val28_Glu33del)" "" "0001045029" "00004876" "90" "164" "0" "164" "0" "c.164del" "r.(?)" "p.(Gly55AlafsTer91)" "" "0001045032" "00004876" "70" "333" "0" "343" "0" "c.333_343del" "r.(?)" "p.(Arg112GlyfsTer4)" "" "0001046195" "00004876" "70" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Ala68Val)" "" "0001046195" "00024207" "70" "246" "0" "246" "0" "c.246C>T" "r.(?)" "p.(=)" "" "0001046196" "00004876" "70" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ala60Val)" "" "0001046196" "00024207" "70" "222" "0" "222" "0" "c.222C>T" "r.(?)" "p.(Gly74=)" "" "0001046197" "00004876" "50" "-19352" "0" "-19352" "0" "c.-19352G>T" "r.(?)" "p.(=)" "" "0001046197" "00024207" "50" "153" "0" "153" "0" "c.153G>T" "r.(?)" "p.(Arg51Ser)" "" "0001048134" "00004876" "90" "358" "0" "358" "0" "c.358G>T" "r.(?)" "p.(Glu120Ter)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 458 "{{screeningid}}" "{{variantid}}" "0000047420" "0000076111" "0000090653" "0000148782" "0000090654" "0000148783" "0000090655" "0000148784" "0000090656" "0000148785" "0000090657" "0000148786" "0000090658" "0000148787" "0000090659" "0000148788" "0000090660" "0000148789" "0000090661" "0000148790" "0000090662" "0000148791" "0000090663" "0000148792" "0000090664" "0000148793" "0000090665" "0000148794" "0000090666" "0000148795" "0000091027" "0000149156" "0000111665" "0000178814" "0000111666" "0000178898" "0000111667" "0000178909" "0000111668" "0000178920" "0000111669" "0000178931" "0000111670" "0000178942" "0000111671" "0000178953" "0000111672" "0000178964" "0000111673" "0000178975" "0000111674" "0000178815" "0000111675" "0000178826" "0000111676" "0000178837" "0000111677" "0000178848" "0000111678" "0000178859" "0000111679" "0000178870" "0000111680" "0000178881" "0000111681" "0000178892" "0000111682" "0000178896" "0000111683" "0000178897" "0000111684" "0000178899" "0000111685" "0000178900" "0000111686" "0000178901" "0000111687" "0000178902" "0000111688" "0000178903" "0000111689" "0000178904" "0000111690" "0000178905" "0000111691" "0000178906" "0000111692" "0000178907" "0000111693" "0000178908" "0000111694" "0000178910" "0000111695" "0000178911" "0000111696" "0000178912" "0000111697" "0000178913" "0000111698" "0000178914" "0000111699" "0000178915" "0000111700" "0000178916" "0000111701" "0000178917" "0000111702" "0000178918" "0000111703" "0000178919" "0000111704" "0000178921" "0000111705" "0000178922" "0000111706" "0000178923" "0000111707" "0000178924" "0000111708" "0000178925" "0000111709" "0000178926" "0000111710" "0000178927" "0000111711" "0000178928" "0000111712" "0000178929" "0000111713" "0000178930" "0000111714" "0000178932" "0000111715" "0000178933" "0000111716" "0000178934" "0000111717" "0000178935" "0000111718" "0000178936" "0000111719" "0000178937" "0000111720" "0000178938" "0000111721" "0000178939" "0000111722" "0000178940" "0000111723" "0000178941" "0000111724" "0000178943" "0000111725" "0000178944" "0000111726" "0000178945" "0000111727" "0000178946" "0000111728" "0000178947" "0000111729" "0000178948" "0000111730" "0000178949" "0000111731" "0000178950" "0000111732" "0000178951" "0000111733" "0000178952" "0000111734" "0000178954" "0000111735" "0000178955" "0000111736" "0000178956" "0000111737" "0000178957" "0000111738" "0000178958" "0000111739" "0000178959" "0000111740" "0000178960" "0000111741" "0000178961" "0000111742" "0000178962" "0000111743" "0000178963" "0000111744" "0000178965" "0000111745" "0000178966" "0000111746" "0000178967" "0000111747" "0000178968" "0000111748" "0000178969" "0000111749" "0000178970" "0000111750" "0000178971" "0000111751" "0000178972" "0000111752" "0000178973" "0000111753" "0000178974" "0000111754" "0000178976" "0000111755" "0000178977" "0000111756" "0000178978" "0000111757" "0000178979" "0000111758" "0000178980" 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