### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MET) # 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}}" "MET" "met proto-oncogene (hepatocyte growth factor receptor)" "7" "q31" "unknown" "LRG_662" "UD_132118468273" "" "https://www.LOVD.nl/MET" "" "1" "7029" "4233" "164860" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/MET_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-05-20 10:27:37" "00000" "2025-10-10 21:00:02" ## 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}}" "00023884" "MET" "transcript variant 1" "001" "NM_001127500.1" "" "NP_001120972.1" "" "" "" "-187" "6489" "4227" "116312459" "116438440" "00008" "2013-11-25 18:24:21" "" "" "00025889" "MET" "met proto-oncogene, transcript variant 2" "003" "NM_000245.2" "" "NP_000236.2" "" "" "" "-187" "6435" "4173" "116312459" "116438440" "00006" "2023-12-07 11:27:15" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00639" "cancer, lung" "cancer, lung (adenocarcinoma)" "" "211980" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00764" "RCC" "carcinoma, renal cell (RCC)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:50:05" "01221" "cancer, liver" "cancer, hepatocellular (HCC)" "" "114550" "liver" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01428" "MTC" "carcinoma, thyroid, medullary, familial (MTC)" "AD" "155240" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01544" "RB1" "retinoblastoma, type 1" "AD;SMu" "180200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-01-14 18:01:23" "02532" "RCCP1" "carcinoma, renal cell, papillary, type 1 (RCCP-1)" "" "605074" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "05093" "cancer" "cancer" "" "" "" "" "" "00006" "2015-10-23 13:34:05" "" "" "05103" "deafness" "deafness" "" "" "" "" "" "00006" "2015-12-02 12:30:46" "00006" "2017-08-25 19:47:08" "05269" "OSFD" "dysplasia, osteofibrous, susceptibility to (OSFD)" "AD" "607278" "" "" "" "00006" "2017-05-19 13:54:04" "00006" "2021-12-10 21:51:32" "05270" "DFNB97" "deafness, autosomal recessive, type 97 (DFNB-97)" "AR" "616705" "" "" "" "00006" "2017-05-19 13:55:37" "00006" "2021-12-10 21:51:32" "05342" "CAKUT" "kidney and urinary tract, anomalies, congenital (CAKUT)" "" "" "" "" "" "00006" "2017-11-10 19:49:59" "00006" "2017-11-10 19:51:20" "05664" "cancer, renal" "cancer, renal" "" "" "" "" "" "00006" "2019-10-25 18:51:02" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "MET" "01221" "MET" "02532" "MET" "05269" "MET" "05270" ## Individuals ## Do not remove or alter this header ## ## Count = 204 "{{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}}" "00036111" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036112" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036113" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036114" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036115" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036116" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036117" "" "" "" "1" "" "01164" "" "" "" "" 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"" "1" "" "00004" "{PMID:Johnston 2012:22703879}" "" "" "" "" "" "0" "" "" "" "" "00283453" "" "" "" "1" "" "00004" "{PMID:Bean 2013:23757202}, {PMID:Bodian 2014:24728327}" "" "" "" "" "" "0" "" "" "" "" "00283454" "" "" "" "1" "" "00004" "{PMID:Babel 1975:130870}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}, {PMID:Neklason 2011:21970370}" "" "" "" "" "" "0" "" "" "" "" "00283455" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283456" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283457" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283458" "" "" "" "1" "" "00004" "{PMID:Bodian 2014:24728327}" "" "" "" "" "" "0" "" "" "" "" "00283459" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283460" "" "" "" "1" "" "00004" "{PMID:Finegold 2008:18564920}" "" "" "" "" "" "0" "" "" "" "" "00283461" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283462" "" "" "" "1" "" "00004" "{PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283463" "" "" "" "1" "" "00004" "{PMID:Johnston 2012:22703879}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283464" "" "" "" "1" "" "00004" "{PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283465" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283466" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283467" "" "" "" "1" "" "00004" "{PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283468" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283469" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283470" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283471" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283472" "" "" "" "1" "" "00004" "{PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283473" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283474" "" "" "" "1" "" "00004" "{PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283475" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283476" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283477" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283478" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283479" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283480" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283481" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283482" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283483" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}, {PMID:Johnston 2012:22703879}" "" "" "" "" "" "0" "" "" "" "" "00283484" "" "" "" "1" "" "00004" "{PMID:Bean 2013:23757202}, {PMID:Johnston 2012:22703879}" "" "" "" "" "" "0" "" "" "" "" "00283485" "" "" "" "1" "" "00004" "{PMID:Krishnaswamy 2009:19723643}, {PMID:Bodian 2014:24728327}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}, {PMID:Raikes 1976:132694}" "" "" "" "" "" "0" "" "" "" "" "00283486" "" "" "" "1" "" "00004" "{PMID:Johnston 2012:22703879}" "" "" "" "" "" "0" "" "" "" "" "00283487" "" "" "" "1" "" "00004" "{PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283488" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283489" "" "" "" "1" "" "00004" "{PMID:Bean 2013:23757202}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283490" "" "" "" "1" "" "00004" "{PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283491" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283492" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 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"00283501" "" "" "" "1" "" "00004" "{PMID:Johnston 2012:22703879}" "" "" "" "" "" "0" "" "" "" "" "00283502" "" "" "" "1" "" "00004" "{PMID:Johnston 2012:22703879}" "" "" "" "" "" "0" "" "" "" "" "00283503" "" "" "" "1" "" "00004" "{PMID:Johnston 2012:22703879}" "" "" "" "" "" "0" "" "" "" "" "00283504" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283505" "" "" "" "1" "" "00004" "{PMID:Johnston 2012:22703879}" "" "" "" "" "" "0" "" "" "" "" "00283506" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283507" "" "" "" "1" "" "00004" "{PMID:Johnston 2012:22703879}" "" "" "" "" "" "0" "" "" "" "" "00283508" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283509" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283510" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283511" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283512" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283513" "" "" "" "1" "" "00004" "{PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283514" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283515" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283516" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283517" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283518" "" "" "" "1" "" "00004" "{PMID:Bodian 2014:24728327}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283519" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283520" "" "" "" "1" "" "00004" "{PMID:Bodian 2014:24728327}" "" "" "" "" "" "0" "" "" "" "" "00283521" "" "" "" "1" "" "00004" "{PMID:Bodian 2014:24728327}" "" "" "" "" "" "0" "" "" "" "" "00283522" "" "" "" "1" "" "00004" "{PMID:Bodian 2014:24728327}, {PMID:Knoll 1979:121352}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175} 0, 2," "" "" "" "" "" "0" "" "" "" "" "00283523" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283524" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283525" "" "" "" "1" "" "00004" "{PMID:Bodian 2014:24728327}, {PMID:Hampel 2015:25394175}, {PMID:Reaume 2013:24319509}" "" "" "" "" "" "0" "" "" "" "" "00283526" "" "" "" "1" "" "00004" "{PMID:Johnston 2012:22703879}" "" "" "" "" "" "0" "" "" "" "" "00283527" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283528" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283529" "" "" "" "1" "" "00004" "{PMID:Bodian 2014:24728327}" "" "" "" "" "" "0" "" "" "" "" "00283530" "" "" "" "1" "" "00004" "{PMID:Bodian 2014:24728327}" "" "" "" "" "" "0" "" "" "" "" "00283531" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283532" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283533" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283534" "" "" "" "1" "" "00004" "{PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283535" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283536" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283537" "" "" "" "1" "" "00004" "{PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283538" "" "" "" "1" "" "00004" "{PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283539" "" "" "" "1" "" "00004" "{PMID:Kim 2003:12920089}" "" "" "" "" "" "0" "" "" "" "" "00283540" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283541" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283542" "" "" "" "1" "" "00004" "{PMID:Johnston 2012:22703879}" "" "" "" "" "" "0" "" "" "" "" "00283543" "" "" "" "1" "" "00004" "{PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283544" "" "" "" "1" "" "00004" "{PMID:Bean 2013:23757202}" "" "" "" "" "" "0" "" "" "" "" "00283545" "" "" "" "1" "" "00004" "{PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283546" "" "" "" "1" "" "00004" "{PMID:Alford 2014:24651602}" "" "" "" "" "" "0" "" "" "" "" "00283547" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283548" "" "" "" "1" "" "00004" "{PMID:Bodian 2014:24728327}" "" "" "" "" "" "0" "" "" "" "" "00283549" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283550" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283551" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283552" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283553" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283554" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283555" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283556" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283557" "" "" "" "1" "" "00004" "{PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283558" "" "" "" "1" "" "00004" "{PMID:Bodian 2014:24728327}, {PMID:Bean 2013:23757202}, {PMID:Tyner 2010:20670955}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}, {PMID:Ma 2003:14559814}, {PMID:Tjin 2006:16189274}, {PMID:Johnston 2012:22703879}, {PMID:Finegold 2008:18564920}" "" "" "" "" "" "0" "" "" "" "" "00283559" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283560" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283561" "" "" "" "1" "" "00004" "{PMID:Lee 2000:11042681}" "" "" "" "" "" "0" "" "" "" "" "00283562" "" "" "" "1" "" "00004" "{PMID:Bodian 2014:24728327}" "" "" "" "" "" "0" "" "" "" "" "00283563" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283564" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283565" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283566" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283567" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283568" "" "" "" "1" "" "00004" "{PMID:Bean 2013:23757202}" "" "" "" "" "" "0" "" "" "" "" "00283569" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283570" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283571" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283572" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283573" "" "" "" "1" "" "00004" "{PMID:Hampel 2015:25394175}, {PMID:Olivero 1999:10417759}" "" "" "" "" "" "0" "" "" "" "" "00283574" "" "" "" "1" "" "00004" "{PMID:Wadt 2012:22717761}" "" "" "" "" "" "0" "" "" "" "" "00283575" "" "" "" "1" "" "00004" "{PMID:Schmidt 1999:10327054}" "" "" "" "" "" "0" "" "" "" "" "00283576" "" "" "" "1" "" "00004" "{PMID:Bean 2013:23757202}, {PMID:Zhuang 1998:9731534}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}, {PMID:Schmidt 1998:9563489}" "" "" "" "" "" "0" "" "" "" "" "00283577" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283578" "" "" "" "1" "" "00004" "{PMID:Johnston 2012:22703879}" "" "" "" "" "" "0" "" "" "" "" "00283579" "" "" "" "1" "" "00004" "{PMID:Hampel 2015:25394175}, {PMID:Schmidt 1997:9140397}, {PMID:Reaume 2013:24319509}" "" "" "" "" "" "0" "" "" "" "" "00283580" "" "" "" "1" "" "00004" "{PMID:Tjin 2006:16189274}" "" "" "" "" "" "0" "" "" "" "" "00283581" "" "" "" "1" "" "00004" "{PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283582" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283583" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283584" "" "" "" "1" "" "00004" "{PMID:Park 1999:9927037}" "" "" "" "" "" "0" "" "" "" "" "00283585" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283586" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283587" "" "" "" "1" "" "00004" "{PMID:Hampel 2015:25394175}, {PMID:Schmidt 1997:9140397}, {PMID:Reaume 2013:24319509}" "" "" "" "" "" "0" "" "" "" "" "00283588" "" "" "" "1" "" "00004" "{PMID:Hampel 2015:25394175}, {PMID:Schmidt 1997:9140397}, {PMID:Reaume 2013:24319509}" "" "" "" "" "" "0" "" "" "" "" "00283589" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283590" "" "" "" "1" "" "00004" "{PMID:Hampel 2015:25394175}, {PMID:Schmidt 1997:9140397}, {PMID:Reaume 2013:24319509}" "" "" "" "" "" "0" "" "" "" "" "00283591" "" "" "" "1" "" "00004" "{PMID:Hampel 2015:25394175}, {PMID:Schmidt 1997:9140397}, {PMID:Reaume 2013:24319509}" "" "" "" "" "" "0" "" "" "" "" "00283592" "" "" "" "1" "" "00004" "{PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283593" "" "" "" "1" "" "00004" "{PMID:Lubensky 1999:10433944}" "" "" "" "" "" "0" "" "" "" "" "00283594" "" "" "" "1" "" "00004" "{PMID:Hampel 2015:25394175}, {PMID:Schmidt 1997:9140397}, {PMID:Reaume 2013:24319509}" "" "" "" "" "" "0" "" "" "" "" "00283595" "" "" "" "1" "" "00004" "{PMID:Park 1999:9927037}" "" "" "" "" "" "0" "" "" "" "" "00283596" "" "" "" "1" "" "00004" "{PMID:Lubensky 1999:10433944}" "" "" "" "" "" "0" "" "" "" "" "00283597" "" "" "" "1" "" "00004" "{PMID:Park 1999:9927037}" "" "" "" "" "" "0" "" "" "" "" "00283598" "" "" "" "1" "" "00004" "{PMID:Buratti 2007:17576681}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283599" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283600" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283601" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283602" "" "" "" "1" "" "00004" "{PMID:Bodian 2014:24728327}" "" "" "" "" "" "0" "" "" "" "" "00283603" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283604" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283605" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283606" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283607" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283608" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283609" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283610" "" "" "" "1" "" "00004" "{PMID:Bean 2013:23757202}" "" "" "" "" "" "0" "" "" "" "" "00283611" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283612" "" "" "" "1" "" "00004" "{PMID:Wadt 2012:22717761}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283613" "" "" "" "1" "" "00004" "{PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "" "" "0" "" "" "" "" "00283614" "" "" "" "1" "" "00004" "{PMID:Johnston 2012:22703879}" "" "" "" "" "" "0" "" "" "" "" "00294268" "" "" "" "57" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294269" "" "" "" "14" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00299699" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00307145" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "no" "Brazil" "" "0" "" "" "" "Patient 21" "00316189" "" "" "" "1" "" "00006" "{PMID:Heidet 2017:28566479}" "fetus" "" "" "France" "" "0" "" "" "" "K95" "00363517" "" "" "" "1" "" "04055" "" "" "" "" "France" "" "0" "" "" "" "" "00371666" "" "" "" "1" "" "04055" "" "" "" "" "France" "" "0" "" "" "" "" "00371668" "" "" "" "1" "" "04055" "" "" "" "" "France" "" "" "" "" "" "" "00371669" "" "" "" "1" "" "04055" "" "" "" "" "France" "" "" "" "" "" "" "00371671" "" "" "" "1" "" "04055" "" "" "" "" "France" "" "" "" "" "" "" "00371673" "" "" "" "1" "" "04055" "" "" "" "" "" "" "" "" "" "" "" "00371674" "" "" "" "1" "" "04055" "" "" "" "" "France" "" "" "" "" "" "" "00371678" "" "" "" "1" "" "04055" "" "" "" "" "France" "" "" "" "" "" "" "00408093" "" "" "" "1" "" "00000" "{PMID:Alabdullatif 2017:27717089}" "" "M" "yes" "United Arab Emirates" "" "0" "" "" "" "145" "00408094" "" "" "" "1" "" "00000" "{PMID:Alabdullatif 2017:27717089}" "" "M" "yes" "United Arab Emirates" "" "0" "" "" "" "146" "00441652" "" "" "" "9" "" "00006" "{PMID:Mujtaba 2015:25941349}, {PMID:Naz 2017:27573290}" "family, 9 affected" "" "" "Pakistan" "" "0" "" "" "Punjab" "HLGM17" "00464412" "" "" "" "1" "" "00006" "{PMID:Kim 2022:36082279}" "" "" "" "United States" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 173 "{{individualid}}" "{{diseaseid}}" "00036111" "00198" "00036112" "00198" "00036113" "00198" "00036114" "00198" "00036115" "00198" "00036116" "00198" "00036117" "00198" "00036118" "00198" "00104586" "01428" "00266479" "05093" "00283440" "00764" "00283441" "00764" "00283442" "00764" "00283443" "00764" "00283445" "00764" "00283446" "00764" "00283447" "00764" "00283448" "00764" "00283449" "00198" "00283451" "00764" "00283454" "00198" "00283455" "00764" "00283456" "00764" "00283457" "00764" "00283459" "00764" "00283460" "00198" "00283461" "00764" "00283462" "00198" "00283463" "00198" "00283464" "00198" "00283465" "00764" "00283466" "00764" "00283467" "00198" "00283468" "00764" "00283469" "00764" "00283470" "00764" "00283471" "00764" "00283472" "00198" "00283473" "00764" "00283474" "00198" "00283475" "00764" "00283476" "00764" "00283477" "00764" "00283478" "00764" "00283479" "00198" "00283480" "00764" "00283481" "00764" "00283482" "00764" "00283483" "00764" "00283485" "00764" "00283487" "00198" "00283488" "00764" "00283489" "00764" "00283490" "00198" "00283491" "00764" "00283492" "00764" "00283493" "00198" "00283494" "00764" "00283495" "00764" "00283497" "00764" "00283499" "00198" "00283500" "00764" "00283504" "00764" "00283506" "00764" "00283508" "00198" "00283509" "00764" "00283510" "00764" "00283511" "00764" "00283512" "00764" "00283513" "00198" "00283514" "00764" "00283515" "00764" "00283516" "00764" "00283517" "00764" "00283518" "00198" "00283519" "00198" "00283522" "00764" "00283523" "00764" "00283524" "00764" "00283525" "00764" "00283527" "00764" "00283528" "00764" "00283531" "00764" "00283532" "00764" "00283533" "00764" "00283534" "00198" "00283535" "00764" "00283536" "00764" "00283537" "00198" "00283538" "00198" "00283539" "00198" "00283540" "00764" "00283541" "00764" "00283543" "00198" "00283545" "00198" "00283546" "05103" "00283547" "00198" "00283549" "00764" "00283550" "00764" "00283551" "00764" "00283552" "00764" "00283553" "00764" "00283554" "00764" "00283555" "00764" "00283556" "00764" "00283557" "00198" "00283559" "00764" "00283560" "00764" "00283561" "00198" "00283563" "00764" "00283564" "00764" "00283565" "00764" "00283566" "00764" "00283567" "00764" "00283569" "00198" "00283570" "00764" "00283571" "00764" "00283572" "00764" "00283573" "00198" "00283574" "00198" "00283575" "00198" "00283576" "00198" "00283577" "00764" "00283579" "00198" "00283580" "00198" "00283581" "00198" "00283582" "00764" "00283583" "00764" "00283584" "00198" "00283585" "00764" "00283586" "00764" "00283587" "00198" "00283588" "00764" "00283589" "00764" "00283590" "00198" "00283591" "00198" "00283592" "00198" "00283593" "00198" "00283594" "00198" "00283595" "00198" "00283596" "00198" "00283597" "00198" "00283598" "00198" "00283599" "00198" "00283600" "00764" "00283601" "00764" "00283603" "00764" "00283604" "00764" "00283605" "00764" "00283606" "00764" "00283607" "00764" "00283608" "00764" "00283609" "00764" "00283611" "00764" "00283612" "00764" "00283613" "00764" "00294268" "00198" "00294269" "00198" "00299699" "00198" "00307145" "01544" "00316189" "05342" "00363517" "05664" "00371666" "05664" "00371668" "05664" "00371669" "05664" "00371671" "05664" "00371673" "05664" "00371674" "05664" "00371678" "05664" "00408093" "04214" "00408094" "04214" "00441652" "05086" "00464412" "00639" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00639, 00764, 01221, 01428, 01544, 02532, 04214, 05086, 05093, 05103, 05269, 05270, 05342, 05664 ## 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/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Cancer/Sub_type}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000082504" "01428" "00104586" "02014" "Familial" "68y" "no c cell hyperplasia\r\nSecond primary tumor (breast carcinoma HP:0003002)" "" "68y" "" "" "" "" "" "" "" "" "" "" "0000156351" "00198" "00036111" "01164" "Unknown" "" "hereditary cancer syndrome, rectumcarzinoma 60 J., synchron papillary kidney-carzinoma" "" "" "" "" "" "" "" "" "" "" "cancer syndrome" "" "0000156352" "00198" "00036112" "01164" "Unknown" "" "hereditary cancer syndrome, rectumcarzinoma 60 J., synchron papillary kidney-carzinoma" "" "" "" "" "" "" "" "" "" "" "cancer syndrome" "" "0000156353" "00198" "00036113" "01164" "Unknown" "" "renal cancer" "" "" "" "" "" "" "" "" "" "" "renal cancer" "" "0000156354" "00198" "00036114" "01164" "Unknown" "" "renal cancer" "" "" "" "" "" "" "" "" "" "" "renal cancer" "" "0000156355" "00198" "00036115" "01164" "Unknown" "" "renal cancer" "" "" "" "" "" "" "" "" "" "" "renal cancer" "" "0000156356" "00198" "00036116" "01164" "Unknown" "" "renal cancer" "" "" "" "" "" "" "" "" "" "" "renal cancer" "" "0000156357" "00198" "00036117" "01164" "Unknown" "" "renal cancer" "" "" "" "" "" "" "" "" "" "" "renal cancer" "" "0000156358" "00198" "00036118" "01164" "Unknown" "" "renal cancer" "" "" "" "" "" "" "" "" "" "" "renal cancer" "" "0000200595" "00198" "00262115" "01164" "Unknown" "" "HP:0005994 (Nodular goiter); HP:0000138 (Ovarian cyst); HP:0005266 (Intestinal polyp); HP:0009726 (Renal neoplasm)" "" "" "" "" "" "" "" "" "" "" "" "" "0000201827" "00198" "00263968" "01164" "Unknown" "" "Renal cell carcinoma (HP:0005584)" "" "" "" "" "" "" "" "" "" "" "" "" "0000204213" "05093" "00266479" "02337" "Unknown" "" "posterior fossa hemangioblastoma; no family history" "" "" "" "" "" "" "" "" "" "" "hemangioblastoma" "" "0000216695" "00198" "00283449" "00008" "Unknown" "" "neoplastic syndromes, hereditary" "" "" "" "" "" "" "" "" "" "" "Hereditary cancer-predisposing syndrome" "" "0000216696" "00198" "00283454" "00008" "Unknown" "" "renal cell carcinoma, papillary, 1; neoplastic syndromes, hereditary" "" "" "" "" "" "" "" "" "" "" "Hereditary cancer-predisposing syndrome" "" "0000216697" "00198" "00283460" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Lymphoedema" "" "0000216698" "00198" "00283462" "00008" "Unknown" "" "neoplastic syndromes, hereditary" "" "" "" "" "" "" "" "" "" "" "Hereditary cancer-predisposing syndrome" "" "0000216699" "00198" "00283463" "00008" "Unknown" "" "renal cell carcinoma, papillary, 1; neoplastic syndromes, hereditary" "" "" "" "" "" "" "" "" "" "" "Hereditary cancer-predisposing syndrome" "" "0000216700" "00198" "00283464" "00008" "Unknown" "" "neoplastic syndromes, hereditary" "" "" "" "" "" "" "" "" "" "" "Hereditary cancer-predisposing syndrome" "" "0000216701" "00198" "00283467" "00008" "Unknown" "" "neoplastic syndromes, hereditary" "" "" "" "" "" "" "" "" "" "" "Hereditary cancer-predisposing syndrome" "" "0000216702" "00198" "00283472" "00008" "Unknown" "" "neoplastic syndromes, hereditary" "" "" "" "" "" "" "" "" "" "" "Hereditary cancer-predisposing syndrome" "" "0000216703" "00198" "00283474" "00008" "Unknown" "" "neoplastic syndromes, hereditary" "" "" "" "" "" "" "" "" "" "" "Hereditary cancer-predisposing syndrome" "" "0000216704" "00198" "00283479" "00008" "Unknown" "" "renal cell carcinoma, papillary, 1; neoplastic syndromes, hereditary" "" "" "" "" "" "" "" "" "" "" "Hereditary cancer-predisposing syndrome" "" "0000216705" "00198" "00283487" "00008" "Unknown" "" "neoplastic syndromes, hereditary" "" "" "" "" "" "" "" "" "" "" "Hereditary cancer-predisposing syndrome" "" "0000216706" "00198" "00283490" "00008" "Unknown" "" "neoplastic syndromes, hereditary" "" "" "" "" "" "" "" "" "" "" "Hereditary cancer-predisposing syndrome" "" "0000216707" "00198" "00283493" "00008" "Unknown" "" "neoplastic syndromes, hereditary" "" "" "" "" "" "" "" "" "" "" "Hereditary cancer-predisposing syndrome" "" "0000216708" "00198" "00283499" "00008" "Unknown" "" "neoplastic syndromes, hereditary" "" "" "" "" "" "" "" "" "" "" "Hereditary cancer-predisposing syndrome" "" "0000216709" "00198" "00283508" "00008" "Unknown" "" "renal cell carcinoma, papillary, 1; neoplastic syndromes, hereditary" "" "" "" "" "" "" "" "" "" "" "Hereditary cancer-predisposing syndrome" "" "0000216710" "00198" "00283513" "00008" "Unknown" "" "neoplastic syndromes, hereditary" "" "" "" "" "" "" "" "" "" "" "Hereditary cancer-predisposing syndrome" "" "0000216711" "00198" "00283518" "00008" "Unknown" "" "neoplastic syndromes, hereditary" "" "" "" "" "" "" "" "" "" "" "Hereditary cancer-predisposing syndrome" "" "0000216712" "00198" "00283519" "00008" "Unknown" "" "renal cell carcinoma, papillary, 1; neoplastic syndromes, hereditary" "" "" "" "" "" "" "" "" "" "" "Hereditary cancer-predisposing syndrome" "" "0000216713" "00198" "00283534" "00008" "Unknown" "" "neoplastic syndromes, hereditary" "" "" "" "" "" "" "" "" "" "" "Hereditary cancer-predisposing syndrome" "" "0000216714" "00198" "00283537" "00008" "Unknown" "" "neoplastic syndromes, hereditary" "" "" "" "" "" "" "" "" "" "" "Hereditary cancer-predisposing syndrome" "" "0000216715" "00198" "00283538" "00008" "Unknown" "" "neoplastic syndromes, hereditary" "" "" "" "" "" "" "" "" "" "" "Hereditary cancer-predisposing syndrome" "" "0000216716" "00198" "00283539" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Gastric cancer" "" "0000216717" "00198" "00283543" "00008" "Unknown" "" "neoplastic syndromes, hereditary" "" "" "" "" "" "" "" "" "" "" "Hereditary cancer-predisposing syndrome" "" "0000216718" "00198" "00283545" "00008" "Unknown" "" "neoplastic syndromes, hereditary" "" "" "" "" "" "" "" "" "" "" "Hereditary cancer-predisposing syndrome" "" "0000216719" "00198" "00283547" "00008" "Unknown" "" "renal cell carcinoma, papillary, 1; neoplastic syndromes, hereditary" "" "" "" "" "" "" "" "" "" "" "Hereditary cancer-predisposing syndrome" "" "0000216720" "00198" "00283557" "00008" "Unknown" "" "neoplastic syndromes, hereditary" "" "" "" "" "" "" "" "" "" "" "Hereditary cancer-predisposing syndrome" "" "0000216721" "00198" "00283561" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Gastric cancer" "" "0000216722" "00198" "00283569" "00008" "Unknown" "" "renal cell carcinoma, papillary, 1; neoplastic syndromes, hereditary" "" "" "" "" "" "" "" "" "" "" "Hereditary cancer-predisposing syndrome" "" "0000216723" "00198" "00283573" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Papillary renal carcinoma" "" "0000216724" "00198" "00283574" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Papillary renal carcinoma" "" "0000216725" "00198" "00283575" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Papillary renal carcinoma" "" "0000216726" "00198" "00283576" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Papillary renal carcinoma" "" "0000216727" "00198" "00283579" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Papillary renal carcinoma" "" "0000216728" "00198" "00283580" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Diffuse large B-cell lymphoma" "" "0000216729" "00198" "00283581" "00008" "Unknown" "" "neoplastic syndromes, hereditary" "" "" "" "" "" "" "" "" "" "" "Hereditary cancer-predisposing syndrome" "" "0000216730" "00198" "00283584" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type childhood" "hepatocellular carcinoma" "" "0000216731" "00198" "00283587" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Papillary renal carcinoma" "" "0000216732" "00198" "00283590" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Papillary renal carcinoma" "" "0000216733" "00198" "00283591" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Papillary renal carcinoma" "" "0000216734" "00198" "00283592" "00008" "Unknown" "" "neoplastic syndromes, hereditary" "" "" "" "" "" "" "" "" "" "" "Hereditary cancer-predisposing syndrome" "" "0000216735" "00198" "00283593" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Papillary renal carcinoma" "" "0000216736" "00198" "00283594" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Papillary renal carcinoma" "" "0000216737" "00198" "00283595" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type childhood" "hepatocellular carcinoma" "" "0000216738" "00198" "00283596" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Papillary renal carcinoma" "" "0000216739" "00198" "00283597" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type childhood" "hepatocellular carcinoma" "" "0000216740" "00198" "00283598" "00008" "Unknown" "" "renal cell carcinoma, papillary, 1; neoplastic syndromes, hereditary" "" "" "" "" "" "" "" "" "" "" "Hereditary cancer-predisposing syndrome" "" "0000216741" "00198" "00283599" "00008" "Unknown" "" "renal cell carcinoma, papillary, 1; neoplastic syndromes, hereditary" "" "" "" "" "" "" "" "" "" "" "Hereditary cancer-predisposing syndrome" "" "0000217862" "00764" "00283440" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217863" "00764" "00283441" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217864" "00764" "00283442" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217865" "00764" "00283443" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217866" "00764" "00283445" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217867" "00764" "00283446" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217868" "00764" "00283447" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217869" "00764" "00283448" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217870" "00764" "00283451" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217871" "00764" "00283455" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217872" "00764" "00283456" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217873" "00764" "00283457" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217874" "00764" "00283459" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217875" "00764" "00283461" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217876" "00764" "00283465" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217877" "00764" "00283466" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217878" "00764" "00283468" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217879" "00764" "00283469" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217880" "00764" "00283470" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217881" "00764" "00283471" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217882" "00764" "00283473" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217883" "00764" "00283475" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217884" "00764" "00283476" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217885" "00764" "00283477" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217886" "00764" "00283478" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217887" "00764" "00283480" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217888" "00764" "00283481" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217889" "00764" "00283482" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217890" "00764" "00283483" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217891" "00764" "00283485" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217892" "00764" "00283488" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217893" "00764" "00283489" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217894" "00764" "00283491" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217895" "00764" "00283492" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217896" "00764" "00283494" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217897" "00764" "00283495" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217898" "00764" "00283497" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217899" "00764" "00283500" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217900" "00764" "00283504" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217901" "00764" "00283506" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217902" "00764" "00283509" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217903" "00764" "00283510" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217904" "00764" "00283511" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217905" "00764" "00283512" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217906" "00764" "00283514" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217907" "00764" "00283515" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217908" "00764" "00283516" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217909" "00764" "00283517" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217910" "00764" "00283522" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217911" "00764" "00283523" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217912" "00764" "00283524" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217913" "00764" "00283525" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217914" "00764" "00283527" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217915" "00764" "00283528" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217916" "00764" "00283531" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217917" "00764" "00283532" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217918" "00764" "00283533" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217919" "00764" "00283535" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217920" "00764" "00283536" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217921" "00764" "00283540" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217922" "00764" "00283541" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217923" "00764" "00283549" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217924" "00764" "00283550" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217925" "00764" "00283551" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217926" "00764" "00283552" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217927" "00764" "00283553" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217928" "00764" "00283554" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217929" "00764" "00283555" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217930" "00764" "00283556" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217931" "00764" "00283559" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217932" "00764" "00283560" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217933" "00764" "00283563" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217934" "00764" "00283564" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217935" "00764" "00283565" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217936" "00764" "00283566" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217937" "00764" "00283567" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217938" "00764" "00283570" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217939" "00764" "00283571" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217940" "00764" "00283572" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217941" "00764" "00283577" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217942" "00764" "00283582" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217943" "00764" "00283583" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217944" "00764" "00283585" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217945" "00764" "00283586" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217946" "00764" "00283588" "00008" "Unknown" "" "somatic" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217947" "00764" "00283589" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217948" "00764" "00283600" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217949" "00764" "00283601" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217950" "00764" "00283603" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217951" "00764" "00283604" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217952" "00764" "00283605" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217953" "00764" "00283606" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217954" "00764" "00283607" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217955" "00764" "00283608" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217956" "00764" "00283609" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217957" "00764" "00283611" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217958" "00764" "00283612" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000217959" "00764" "00283613" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 1" "Renal cell carcinoma, papillary" "" "0000218464" "05103" "00283546" "00008" "Familial, autosomal recessive" "" "severe hearing loss" "" "" "" "" "" "" "" "" "" "type 97" "deafness, autosomal recessive" "" "0000227004" "00198" "00299699" "01164" "Unknown" "" "Papillary renal cell carcinoma (HP:0006766); Neoplasm of the genitourinary tract (HP:0007379)" "" "" "" "" "" "" "" "" "" "" "" "" "0000232950" "01544" "00307145" "03753" "Unknown" "" "Unilateral" "" "00y32m" "HP:0000555" "" "" "" "" "" "" "" "" "" "0000239936" "05342" "00316189" "00006" "Unknown" "" "bilateral kidney agenesis" "" "" "" "" "" "" "" "" "" "" "bilateral kidney agenesis" "" "0000258877" "05664" "00363517" "04055" "Familial, autosomal dominant" "" "bilateral and multifocal tumors with trisomy of chromosome 7" "" "" "Molka SEBAI" "" "" "" "" "" "" "Papillary renal cell carcinoma type 1" "" "" "0000267004" "05664" "00371668" "04055" "Familial, autosomal dominant" "" "Bilateral and multifocal tumors" "" "" "HP:0011797" "" "" "" "" "" "" "Papillary renal cell carcinoma type 1" "" "" "0000267005" "05664" "00371669" "04055" "Isolated (sporadic)" "" "" "" "" "HP:0011797" "" "" "" "" "" "" "Papillary renal cell carcinoma type 1" "" "" "0000267007" "05664" "00371671" "04055" "-" "" "" "" "" "HP:0011797" "" "" "" "" "" "" "Papillary renal cell carcinoma type 1" "" "" "0000267008" "05664" "00371673" "04055" "-" "" "" "" "" "HP:0011797" "" "" "" "" "" "" "Papillary renal cell carcinoma type 1" "" "" "0000267010" "05664" "00371674" "04055" "-" "" "" "" "" "HP:0011797" "" "" "" "" "" "" "Papillary renal cell carcinoma type 1" "" "" "0000267014" "05664" "00371678" "04055" "-" "" "bilateral and multiple tumors , three index-cases" "" "" "HP:0011797" "" "" "" "" "" "" "Papillary renal cell carcinoma type 1" "" "" "0000300221" "04214" "00408093" "00000" "Familial, autosomal recessive" "3y" "3 years old boy was born with arthrogryposis (contractures of elbows and fingers). Hearing loss was detected during infancy and he had cochlear implant at 2 years of age. He also had developmental delay, reduced muscle mass, and distinctive facial features (narrow face with low- set and small ears). His parents were cousin. He had 3 siblings, one was similarly affected." "" "" "" "" "" "" "" "" "" "Deafness, autosomal recessive 97" "" "" "0000300222" "04214" "00408094" "00000" "Familial, autosomal recessive" "12y" "12 years old boy was born premature at 32 weeks gestational age with arthrogryposis (contractures of elbows and fingers). Hearing loss was detected during infancy and he had cochlear implant at 2 years of age. He also had developmental delay, reduced muscle mass, and distinctive facial features (narrow face with low-set and small ears). His parents were cousin. He had 3 siblings, one was similarly affected." "" "" "" "" "" "" "" "" "" "Deafness, autosomal recessive 97" "" "" "0000331061" "05086" "00441652" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000350433" "00639" "00464412" "00006" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "non small cell lung cancer" "" ## Screenings ## Do not remove or alter this header ## ## Count = 204 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000036181" "00036111" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036182" "00036112" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036183" "00036113" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036184" "00036114" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036185" "00036115" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036186" "00036116" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036187" "00036117" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036188" "00036118" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000105058" "00104586" "1" "02014" "02014" "2017-05-18 15:53:03" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000263221" "00262115" "1" "01164" "01164" "2019-08-19 09:49:11" "" "" "SEQ-NG-S" "DNA" "" "" "0000265081" "00263968" "1" "01164" "01164" "2019-09-02 18:38:14" "" "" "SEQ-NG-S" "DNA" "" "" "0000267605" "00266479" "1" "02337" "01873" "2019-08-07 20:11:25" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000284590" "00283440" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284591" "00283441" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284592" "00283442" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284593" "00283443" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284594" "00283444" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284595" "00283445" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284596" "00283446" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284597" "00283447" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284598" "00283448" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284599" "00283449" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284600" "00283450" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284601" "00283451" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284602" "00283452" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284603" "00283453" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284604" "00283454" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284605" "00283455" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284606" "00283456" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284607" "00283457" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284608" "00283458" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284609" "00283459" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284610" "00283460" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284611" "00283461" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284612" "00283462" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284613" "00283463" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284614" "00283464" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284615" "00283465" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284616" "00283466" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284617" "00283467" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284618" "00283468" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284619" "00283469" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284620" "00283470" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284621" "00283471" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284622" "00283472" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284623" "00283473" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284624" "00283474" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284625" "00283475" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284626" "00283476" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284627" "00283477" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284628" "00283478" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284629" "00283479" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284630" "00283480" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284631" "00283481" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284632" "00283482" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284633" "00283483" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284634" "00283484" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284635" "00283485" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284636" "00283486" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284637" "00283487" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284638" "00283488" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284639" "00283489" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284640" "00283490" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284641" "00283491" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284642" "00283492" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284643" "00283493" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284644" "00283494" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284645" "00283495" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284646" "00283496" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284647" "00283497" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284648" "00283498" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284649" "00283499" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284650" "00283500" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284651" "00283501" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284652" "00283502" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284653" "00283503" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284654" "00283504" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284655" "00283505" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284656" "00283506" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284657" "00283507" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284658" "00283508" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284659" "00283509" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284660" "00283510" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284661" "00283511" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284662" "00283512" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284663" "00283513" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284664" "00283514" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284665" "00283515" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284666" "00283516" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284667" "00283517" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284668" "00283518" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284669" "00283519" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284670" "00283520" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284671" "00283521" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284672" "00283522" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284673" "00283523" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284674" "00283524" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284675" "00283525" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284676" "00283526" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284677" "00283527" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284678" "00283528" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284679" "00283529" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284680" "00283530" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284681" "00283531" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284682" "00283532" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284683" "00283533" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284684" "00283534" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284685" "00283535" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284686" "00283536" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284687" "00283537" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284688" "00283538" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284689" "00283539" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284690" "00283540" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284691" "00283541" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284692" "00283542" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284693" "00283543" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284694" "00283544" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284695" "00283545" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284696" "00283546" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284697" "00283547" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284698" "00283548" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284699" "00283549" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284700" "00283550" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284701" "00283551" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284702" "00283552" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284703" "00283553" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284704" "00283554" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284705" "00283555" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284706" "00283556" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284707" "00283557" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284708" "00283558" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284709" "00283559" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284710" "00283560" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284711" "00283561" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284712" "00283562" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284713" "00283563" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284714" "00283564" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284715" "00283565" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284716" "00283566" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284717" "00283567" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284718" "00283568" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284719" "00283569" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284720" "00283570" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284721" "00283571" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284722" "00283572" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284723" "00283573" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284724" "00283574" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284725" "00283575" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284726" "00283576" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284727" "00283577" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284728" "00283578" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284729" "00283579" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284730" "00283580" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284731" "00283581" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284732" "00283582" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284733" "00283583" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284734" "00283584" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284735" "00283585" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284736" "00283586" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284737" "00283587" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284738" "00283588" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284739" "00283589" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284740" "00283590" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284741" "00283591" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284742" "00283592" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284743" "00283593" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284744" "00283594" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284745" "00283595" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284746" "00283596" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284747" "00283597" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284748" "00283598" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284749" "00283599" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284750" "00283600" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284751" "00283601" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284752" "00283602" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284753" "00283603" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284754" "00283604" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284755" "00283605" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284756" "00283606" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284757" "00283607" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284758" "00283608" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284759" "00283609" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284760" "00283610" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284761" "00283611" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284762" "00283612" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284763" "00283613" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284764" "00283614" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000295436" "00294268" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295437" "00294269" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000300809" "00299699" "1" "01164" "01164" "2020-04-20 10:35:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000308287" "00307145" "1" "03753" "03753" "2020-08-04 20:52:23" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "" "0000317371" "00316189" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" "0000364745" "00363517" "1" "04055" "04055" "2021-04-29 11:51:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000372894" "00371666" "1" "04055" "04055" "2021-05-04 10:40:45" "" "" "SEQ-NG-I" "DNA" "" "" "0000372896" "00371668" "1" "04055" "04055" "2021-05-04 11:07:32" "" "" "SEQ-NG-I" "DNA" "" "" "0000372897" "00371669" "1" "04055" "04055" "2021-05-04 11:14:40" "" "" "SEQ-NG-I" "DNA" "" "" "0000372899" "00371671" "1" "04055" "04055" "2021-05-04 11:26:32" "" "" "SEQ-NG-I" "DNA" "" "" "0000372900" "00371673" "1" "04055" "04055" "2021-05-04 11:31:59" "" "" "SEQ-NG-I" "DNA" "" "" "0000372902" "00371674" "1" "04055" "04055" "2021-05-04 12:08:22" "" "" "SEQ-NG-I" "DNA" "" "" "0000372906" "00371678" "1" "04055" "04055" "2021-05-04 13:21:33" "" "" "SEQ-NG-I" "DNA" "" "" "0000409348" "00408093" "1" "00000" "03840" "2022-04-13 19:19:00" "" "" "arraySNP;SEQ" "DNA" "" "" "0000409349" "00408094" "1" "00000" "03840" "2022-04-13 19:19:00" "" "" "arraySNP;SEQ" "DNA" "" "" "0000443138" "00441652" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466047" "00464412" "1" "00006" "00006" "2025-03-10 15:14:02" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 196 "{{screeningid}}" "{{geneid}}" "0000036181" "MET" "0000036182" "MET" "0000036183" "MET" "0000036184" "MET" "0000036185" "MET" "0000036186" "MET" "0000036187" "MET" "0000036188" "MET" "0000284590" "MET" "0000284591" "MET" "0000284592" "MET" "0000284593" "MET" "0000284594" "MET" "0000284595" "MET" "0000284596" "MET" "0000284597" "MET" "0000284598" "MET" "0000284599" "MET" "0000284600" "MET" "0000284601" "MET" "0000284602" "MET" "0000284603" "MET" "0000284604" "MET" "0000284605" "MET" "0000284606" "MET" "0000284607" "MET" "0000284608" "MET" "0000284609" "MET" "0000284610" "MET" "0000284611" "MET" "0000284612" "MET" "0000284613" "MET" "0000284614" "MET" "0000284615" "MET" "0000284616" "MET" "0000284617" "MET" "0000284618" "MET" "0000284619" "MET" "0000284620" "MET" "0000284621" "MET" "0000284622" "MET" "0000284623" "MET" "0000284624" "MET" "0000284625" "MET" "0000284626" "MET" "0000284627" "MET" "0000284628" "MET" "0000284629" "MET" "0000284630" "MET" "0000284631" "MET" "0000284632" "MET" "0000284633" "MET" "0000284634" "MET" "0000284635" "MET" "0000284636" "MET" "0000284637" "MET" "0000284638" "MET" "0000284639" "MET" "0000284640" "MET" "0000284641" "MET" "0000284642" "MET" "0000284643" "MET" "0000284644" "MET" "0000284645" "MET" "0000284646" "MET" "0000284647" "MET" "0000284648" "MET" "0000284649" "MET" "0000284650" "MET" "0000284651" "MET" "0000284652" "MET" "0000284653" "MET" "0000284654" "MET" "0000284655" "MET" "0000284656" "MET" "0000284657" "MET" "0000284658" "MET" "0000284659" "MET" "0000284660" "MET" "0000284661" "MET" "0000284662" "MET" "0000284663" "MET" "0000284664" "MET" "0000284665" "MET" "0000284666" "MET" "0000284667" "MET" "0000284668" "MET" "0000284669" "MET" "0000284670" "MET" "0000284671" "MET" "0000284672" "MET" "0000284673" "MET" "0000284674" "MET" "0000284675" "MET" "0000284676" "MET" "0000284677" "MET" "0000284678" "MET" "0000284679" "MET" "0000284680" "MET" "0000284681" "MET" "0000284682" "MET" "0000284683" "MET" "0000284684" "MET" "0000284685" "MET" "0000284686" "MET" "0000284687" "MET" "0000284688" "MET" "0000284689" "MET" "0000284690" "MET" "0000284691" "MET" "0000284692" "MET" "0000284693" "MET" "0000284694" "MET" "0000284695" "MET" "0000284696" "MET" "0000284697" "MET" "0000284698" "MET" "0000284699" "MET" "0000284700" "MET" "0000284701" "MET" "0000284702" "MET" "0000284703" "MET" "0000284704" "MET" "0000284705" "MET" "0000284706" "MET" "0000284707" "MET" "0000284708" "MET" "0000284709" "MET" "0000284710" "MET" "0000284711" "MET" "0000284712" "MET" "0000284713" "MET" "0000284714" "MET" "0000284715" "MET" "0000284716" "MET" "0000284717" "MET" "0000284718" "MET" "0000284719" "MET" "0000284720" "MET" "0000284721" "MET" "0000284722" "MET" "0000284723" "MET" "0000284724" "MET" "0000284725" "MET" "0000284726" "MET" "0000284727" "MET" "0000284728" "MET" "0000284729" "MET" "0000284730" "MET" "0000284731" "MET" "0000284732" "MET" "0000284733" "MET" "0000284734" "MET" "0000284735" "MET" "0000284736" "MET" "0000284737" "MET" "0000284738" "MET" "0000284739" "MET" "0000284740" "MET" "0000284741" "MET" "0000284742" "MET" "0000284743" "MET" "0000284744" "MET" "0000284745" "MET" "0000284746" "MET" "0000284747" "MET" "0000284748" "MET" "0000284749" "MET" "0000284750" "MET" "0000284751" "MET" "0000284752" "MET" "0000284753" "MET" "0000284754" "MET" "0000284755" "MET" "0000284756" "MET" "0000284757" "MET" "0000284758" "MET" "0000284759" "MET" "0000284760" "MET" "0000284761" "MET" "0000284762" "MET" "0000284763" "MET" "0000284764" "MET" "0000308287" "RB1" "0000317371" "MET" "0000364745" "MET" "0000372894" "MET" "0000372896" "MET" "0000372897" "MET" "0000372899" "MET" "0000372900" "MET" "0000372902" "MET" "0000372906" "MET" "0000409348" "MET" "0000409349" "MET" "0000466047" "MET" ## 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 = 402 "{{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}}" "0000063306" "1" "10" "7" "116398763" "116398763" "subst" "0" "01164" "MET_000117" "g.116398763C>T" "" "" "" "" "" "Germline" "" "rs17138978" "0" "" "" "g.116758709C>T" "" "benign" "" "0000063307" "1" "10" "7" "116411778" "116411778" "subst" "0" "01164" "MET_000111" "g.116411778G>A" "" "" "" "" "" "Germline" "" "rs6978257" "0" "" "" "g.116771724G>A" "" "benign" "" "0000063308" "1" "10" "7" "116395257" "116395257" "subst" "0" "01164" "MET_000118" "g.116395257C>T" "" "" "" "" "" "Germline" "" "rs38860" "0" "" "" "g.116755203C>T" "" "benign" "" "0000063309" "1" "10" "7" "116421967" "116421967" "subst" "0" "01164" "MET_000112" "g.116421967T>C" "" "" "" "" "" "Germline" "" "rs6947629" "0" "" "" "g.116781913T>C" "" "benign" "" "0000063310" "1" "10" "7" "116436022" "116436022" "subst" "0.434048" "01164" "MET_000034" "g.116436022G>A" "Frequenz 50%" "" "" "" "" "Germline" "" "rs2023748" "0" "" "" "g.116795968G>A" "" "benign" "" "0000063311" "1" "10" "7" "116436097" "116436097" "subst" "0.43425" "01164" "MET_000042" "g.116436097G>A" "Frequenz 45%; MGZ 41737" "" "" "" "" "Germline" "" "" "0" "" "" "g.116796043G>A" "" "benign" "" "0000063312" "1" "10" "7" "116438418" "116438418" "subst" "0" "01164" "MET_000116" "g.116438418G>A" "" "" "" "" "6566" "Germline" "" "" "0" "" "" "g.116798364G>A" "" "benign" "" "0000063313" "1" "10" "7" "116435768" "116435768" "subst" "0.432284" "01164" "MET_000028" "g.116435768C>T" "Frequenz 60% MGZ 41736" "" "" "" "" "Germline" "" "" "0" "" "" "g.116795714C>T" "" "benign" "" "0000170328" "0" "90" "7" "116371771" "116371771" "subst" "0" "02014" "MET_000119" "g.116371771G>A" "" "" "" "R417Q" "" "Germline" "" "" "0" "" "" "g.116731717G>A" "" "pathogenic" "" "0000246569" "0" "10" "7" "116340262" "116340262" "subst" "0.0272526" "02330" "MET_000151" "g.116340262A>G" "" "" "" "MET(NM_001127500.3):c.1124A>G (p.N375S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116700208A>G" "" "benign" "" "0000246578" "0" "10" "7" "116397572" "116397572" "subst" "0.182698" "02330" "MET_000153" "g.116397572A>G" "" "" "" "MET(NM_001127500.3):c.1944A>G (p.Q648=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116757518A>G" "" "benign" "" "0000250077" "0" "10" "7" "116340262" "116340262" "subst" "0.0272526" "02329" "MET_000151" "g.116340262A>G" "" "" "" "MET(NM_001127500.3):c.1124A>G (p.N375S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116700208A>G" "" "benign" "" "0000250143" "0" "10" "7" "116340086" "116340086" "subst" "0.00161307" "02329" "MET_000124" "g.116340086A>G" "" "" "" "MET(NM_000245.2):c.948A>G (p.(Ile316Met)), MET(NM_001127500.3):c.948A>G (p.I316M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116700032A>G" "" "benign" "" "0000252502" "0" "90" "7" "116417464" "116417464" "subst" "1.21954E-5" "02326" "MET_000165" "g.116417464A>G" "" "" "" "MET(NM_001127500.1):c.3335A>G (p.H1112R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116777410A>G" "" "pathogenic" "" "0000252591" "0" "90" "7" "116423414" "116423414" "subst" "0" "02326" "MET_000144" "g.116423414A>G" "" "" "" "MET(NM_001127500.1):c.3743A>G (p.Y1248C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116783360A>G" "" "pathogenic" "" "0000252769" "0" "50" "7" "116423431" "116423431" "subst" "0" "02326" "MET_000145" "g.116423431A>C" "" "" "" "MET(NM_001127500.1):c.3760A>C (p.S1254R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116783377A>C" "" "VUS" "" "0000256573" "0" "50" "7" "116411944" "116411944" "subst" "0" "01943" "MET_000132" "g.116411944A>G" "" "" "" "MET(NM_001127500.1):c.2983A>G (p.T995A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116771890A>G" "" "VUS" "" "0000279673" "0" "10" "7" "116340269" "116340269" "subst" "0.0157369" "02330" "MET_000156" "g.116340269C>T" "" "" "" "MET(NM_001127500.3):c.1131C>T (p.I377=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116700215C>T" "" "benign" "" "0000279674" "0" "10" "7" "116379998" "116379998" "subst" "4.46806E-5" "02330" "MET_000157" "g.116379998G>A" "" "" "" "MET(NM_001127500.1):c.1393-6G>A, MET(NM_001127500.3):c.1393-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116739944G>A" "" "benign" "" "0000279675" "0" "10" "7" "116339282" "116339282" "subst" "0.0329887" "02330" "MET_000120" "g.116339282G>A" "" "" "" "MET(NM_001127500.1):c.144G>A (p.A48=), MET(NM_001127500.3):c.144G>A (p.A48=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116699228G>A" "" "benign" "" "0000279676" "0" "30" "7" "116398509" "116398509" "subst" "2.03424E-5" "02330" "MET_000127" "g.116398509T>C" "" "" "" "MET(NM_001127500.3):c.2103-4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116758455T>C" "" "likely benign" "" "0000279677" "0" "30" "7" "116411990" "116411990" "subst" "0.00797126" "02330" "MET_000133" "g.116411990C>T" "" "" "" "MET(NM_000245.4):c.2975C>T (p.(Thr992Ile)), MET(NM_001127500.1):c.3029C>T (p.T1010I), MET(NM_001127500.3):c.3029C>T (p.T1010I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116771936C>T" "" "likely benign" "" "0000279678" "0" "10" "7" "116422030" "116422030" "subst" "0.000607249" "02330" "MET_000139" "g.116422030C>G" "" "" "" "MET(NM_001127500.3):c.3577-12C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116781976C>G" "" "benign" "" "0000279679" "0" "10" "7" "116435768" "116435768" "subst" "0.432284" "02330" "MET_000028" "g.116435768C>T" "" "" "" "MET(NM_001127500.1):c.3912C>T (p.D1304=), MET(NM_001127500.3):c.3912C>T (p.D1304=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116795714C>T" "" "benign" "" "0000279680" "0" "30" "7" "116435928" "116435931" "del" "0" "02330" "MET_000147" "g.116435928_116435931del" "" "" "" "MET(NM_001127500.3):c.3990-13_3990-10delCTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116795874_116795877del" "" "likely benign" "" "0000279681" "0" "10" "7" "116436022" "116436022" "subst" "0.434048" "02330" "MET_000034" "g.116436022G>A" "" "" "" "MET(NM_001127500.1):c.4071G>A (p.A1357=), MET(NM_001127500.3):c.4071G>A (p.A1357=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116795968G>A" "" "benign" "" "0000279682" "0" "10" "7" "116436097" "116436097" "subst" "0.43425" "02330" "MET_000042" "g.116436097G>A" "" "" "" "MET(NM_001127500.1):c.4146G>A (p.P1382=), MET(NM_001127500.3):c.4146G>A (p.P1382=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116796043G>A" "" "benign" "" "0000279683" "0" "30" "7" "116436127" "116436127" "subst" "8.13531E-6" "02330" "MET_000149" "g.116436127C>T" "" "" "" "MET(NM_001127500.1):c.4176C>T (p.N1392=), MET(NM_001127500.3):c.4176C>T (p.N1392=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116796073C>T" "" "likely benign" "" "0000279684" "0" "10" "7" "116339672" "116339672" "subst" "0.0569128" "02330" "MET_000122" "g.116339672C>T" "" "" "" "MET(NM_001127500.1):c.534C>T (p.S178=), MET(NM_001127500.3):c.534C>T (p.S178=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116699618C>T" "" "benign" "" "0000282483" "0" "10" "7" "116409690" "116409690" "del" "0" "02325" "MET_000160" "g.116409690del" "" "" "" "MET(NM_001127500.1):c.2638-9delT, MET(NM_001127500.3):c.2638-9delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116769636del" "" "benign" "" "0000282484" "0" "30" "7" "116411923" "116411923" "subst" "0.00288357" "02325" "MET_000164" "g.116411923C>T" "" "" "" "MET(NM_000245.4):c.2908C>T (p.(Arg970Cys)), MET(NM_001127500.1):c.2962C>T (p.R988C), MET(NM_001127500.3):c.2962C>T (p.R988C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116771869C>T" "" "likely benign" "" "0000282485" "0" "30" "7" "116411990" "116411990" "subst" "0.00797126" "02325" "MET_000133" "g.116411990C>T" "" "" "" "MET(NM_000245.4):c.2975C>T (p.(Thr992Ile)), MET(NM_001127500.1):c.3029C>T (p.T1010I), MET(NM_001127500.3):c.3029C>T (p.T1010I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116771936C>T" "" "likely benign" "" "0000282486" "0" "10" "7" "116435768" "116435768" "subst" "0.432284" "02325" "MET_000028" "g.116435768C>T" "" "" "" "MET(NM_001127500.1):c.3912C>T (p.D1304=), MET(NM_001127500.3):c.3912C>T (p.D1304=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116795714C>T" "" "benign" "" "0000282487" "0" "10" "7" "116436022" "116436022" "subst" "0.434048" "02325" "MET_000034" "g.116436022G>A" "" "" "" "MET(NM_001127500.1):c.4071G>A (p.A1357=), MET(NM_001127500.3):c.4071G>A (p.A1357=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116795968G>A" "" "benign" "" "0000282488" "0" "10" "7" "116436097" "116436097" "subst" "0.43425" "02325" "MET_000042" "g.116436097G>A" "" "" "" "MET(NM_001127500.1):c.4146G>A (p.P1382=), MET(NM_001127500.3):c.4146G>A (p.P1382=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116796043G>A" "" "benign" "" "0000283665" "0" "50" "7" "116371806" "116371806" "subst" "4.06329E-6" "02329" "MET_000125" "g.116371806T>A" "" "" "" "MET(NM_001127500.3):c.1285T>A (p.L429I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116731752T>A" "" "VUS" "" "0000283666" "0" "30" "7" "116399498" "116399498" "subst" "0.000109954" "02329" "MET_000158" "g.116399498C>T" "" "" "" "MET(NM_001127500.1):c.2372C>T (p.P791L), MET(NM_001127500.3):c.2372C>T (p.P791L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116759444C>T" "" "likely benign" "" "0000283667" "0" "30" "7" "116409692" "116409692" "subst" "0" "02329" "MET_000162" "g.116409692C>T" "" "" "" "MET(NM_001127500.3):c.2638-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116769638C>T" "" "likely benign" "" "0000283668" "0" "30" "7" "116411923" "116411923" "subst" "0.00288357" "02329" "MET_000164" "g.116411923C>T" "" "" "" "MET(NM_000245.4):c.2908C>T (p.(Arg970Cys)), MET(NM_001127500.1):c.2962C>T (p.R988C), MET(NM_001127500.3):c.2962C>T (p.R988C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116771869C>T" "" "likely benign" "" "0000283669" "0" "10" "7" "116411990" "116411990" "subst" "0.00797126" "02329" "MET_000133" "g.116411990C>T" "" "" "" "MET(NM_000245.4):c.2975C>T (p.(Thr992Ile)), MET(NM_001127500.1):c.3029C>T (p.T1010I), MET(NM_001127500.3):c.3029C>T (p.T1010I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116771936C>T" "" "benign" "" "0000283670" "0" "30" "7" "116419023" "116419023" "subst" "0.000293537" "02329" "MET_000138" "g.116419023G>T" "" "" "" "MET(NM_001127500.3):c.3576+12G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116778969G>T" "" "likely benign" "" "0000283671" "0" "30" "7" "116422030" "116422030" "subst" "0.000607249" "02329" "MET_000139" "g.116422030C>G" "" "" "" "MET(NM_001127500.3):c.3577-12C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116781976C>G" "" "likely benign" "" "0000283672" "0" "90" "7" "116423383" "116423383" "subst" "0" "02329" "MET_000141" "g.116423383G>A" "" "" "" "MET(NM_001127500.1):c.3712G>A (p.V1238I), MET(NM_001127500.3):c.3712G>A (p.V1238I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116783329G>A" "" "pathogenic" "" "0000283673" "0" "30" "7" "116435928" "116435931" "del" "0" "02329" "MET_000147" "g.116435928_116435931del" "" "" "" "MET(NM_001127500.3):c.3990-13_3990-10delCTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116795874_116795877del" "" "likely benign" "" "0000283674" "0" "30" "7" "116436092" "116436092" "subst" "0.000394421" "02329" "MET_000148" "g.116436092G>A" "" "" "" "MET(NM_001127500.3):c.4141G>A (p.A1381T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116796038G>A" "" "likely benign" "" "0000283675" "0" "10" "7" "116339642" "116339642" "subst" "0.00368533" "02329" "MET_000121" "g.116339642G>T" "" "" "" "MET(NM_000245.2):c.504G>T (p.(Glu168Asp)), MET(NM_000245.4):c.504G>T (p.E168D), MET(NM_001127500.1):c.504G>T (p.E168D), MET(NM_001127500.3):c.504G>..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116699588G>T" "" "benign" "" "0000286546" "0" "10" "7" "116339282" "116339282" "subst" "0.0329887" "02326" "MET_000120" "g.116339282G>A" "" "" "" "MET(NM_001127500.1):c.144G>A (p.A48=), MET(NM_001127500.3):c.144G>A (p.A48=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116699228G>A" "" "benign" "" "0000286547" "0" "10" "7" "116381137" "116381137" "del" "0" "02326" "MET_000126" "g.116381137del" "" "" "" "MET(NM_001127500.1):c.1701+58delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116741083del" "" "benign" "" "0000286548" "0" "10" "7" "116409690" "116409690" "dup" "0" "02326" "MET_000128" "g.116409690dup" "" "" "" "MET(NM_001127500.1):c.2638-9dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116769636dup" "" "benign" "" "0000286549" "0" "10" "7" "116409690" "116409690" "del" "0" "02326" "MET_000159" "g.116409690del" "" "" "" "MET(NM_001127500.1):c.2638-9delT, MET(NM_001127500.3):c.2638-9delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116769636del" "" "benign" "" "0000286550" "0" "10" "7" "116409950" "116409950" "subst" "0" "02326" "MET_000130" "g.116409950T>C" "" "" "" "MET(NM_001127500.1):c.2784+105T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116769896T>C" "" "benign" "" "0000286551" "0" "10" "7" "116411818" "116411818" "subst" "0" "02326" "MET_000131" "g.116411818C>T" "" "" "" "MET(NM_001127500.1):c.2942-85C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116771764C>T" "" "benign" "" "0000286552" "0" "30" "7" "116411923" "116411923" "subst" "0.00288357" "02326" "MET_000164" "g.116411923C>T" "" "" "" "MET(NM_000245.4):c.2908C>T (p.(Arg970Cys)), MET(NM_001127500.1):c.2962C>T (p.R988C), MET(NM_001127500.3):c.2962C>T (p.R988C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116771869C>T" "" "likely benign" "" "0000286553" "0" "10" "7" "116411990" "116411990" "subst" "0.00797126" "02326" "MET_000133" "g.116411990C>T" "" "" "" "MET(NM_000245.4):c.2975C>T (p.(Thr992Ile)), MET(NM_001127500.1):c.3029C>T (p.T1010I), MET(NM_001127500.3):c.3029C>T (p.T1010I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116771936C>T" "" "benign" "" "0000286554" "0" "90" "7" "116417457" "116417457" "subst" "0" "02326" "MET_000134" "g.116417457G>A" "" "" "" "MET(NM_001127500.1):c.3328G>A (p.V1110I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116777403G>A" "" "pathogenic" "" "0000286555" "0" "90" "7" "116417463" "116417463" "subst" "0" "02326" "MET_000135" "g.116417463C>T" "" "" "" "MET(NM_001127500.1):c.3334C>T (p.H1112Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116777409C>T" "" "pathogenic" "" "0000286556" "0" "90" "7" "116418881" "116418881" "subst" "0" "02326" "MET_000136" "g.116418881T>C" "" "" "" "MET(NM_001127500.1):c.3446T>C (p.M1149T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116778827T>C" "" "pathogenic" "" "0000286557" "0" "10" "7" "116421967" "116421967" "subst" "0" "02326" "MET_000112" "g.116421967T>C" "" "" "" "MET(NM_001127500.1):c.3577-75T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116781913T>C" "" "benign" "" "0000286558" "0" "90" "7" "116422081" "116422081" "subst" "0" "02326" "MET_000140" "g.116422081G>T" "" "" "" "MET(NM_001127500.1):c.3616G>T (p.V1206L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116782027G>T" "" "pathogenic" "" "0000286559" "0" "90" "7" "116423383" "116423383" "subst" "0" "02326" "MET_000141" "g.116423383G>A" "" "" "" "MET(NM_001127500.1):c.3712G>A (p.V1238I), MET(NM_001127500.3):c.3712G>A (p.V1238I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116783329G>A" "" "pathogenic" "" "0000286560" "0" "90" "7" "116423407" "116423407" "subst" "0" "02326" "MET_000142" "g.116423407G>A" "" "" "" "MET(NM_001127500.1):c.3736G>A (p.D1246N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116783353G>A" "" "pathogenic" "" "0000286561" "0" "90" "7" "116423413" "116423413" "subst" "0" "02326" "MET_000143" "g.116423413T>G" "" "" "" "MET(NM_001127500.1):c.3742T>G (p.Y1248D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116783359T>G" "" "pathogenic" "" "0000286562" "0" "90" "7" "116423474" "116423474" "subst" "0" "02326" "MET_000146" "g.116423474T>C" "" "" "" "MET(NM_001127500.1):c.3803T>C (p.M1268T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116783420T>C" "" "pathogenic" "" "0000286563" "0" "10" "7" "116435768" "116435768" "subst" "0.432284" "02326" "MET_000028" "g.116435768C>T" "" "" "" "MET(NM_001127500.1):c.3912C>T (p.D1304=), MET(NM_001127500.3):c.3912C>T (p.D1304=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116795714C>T" "" "benign" "" "0000286564" "0" "10" "7" "116436022" "116436022" "subst" "0.434048" "02326" "MET_000034" "g.116436022G>A" "" "" "" "MET(NM_001127500.1):c.4071G>A (p.A1357=), MET(NM_001127500.3):c.4071G>A (p.A1357=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116795968G>A" "" "benign" "" "0000286565" "0" "10" "7" "116436097" "116436097" "subst" "0.43425" "02326" "MET_000042" "g.116436097G>A" "" "" "" "MET(NM_001127500.1):c.4146G>A (p.P1382=), MET(NM_001127500.3):c.4146G>A (p.P1382=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116796043G>A" "" "benign" "" "0000286566" "0" "10" "7" "116339672" "116339672" "subst" "0.0569128" "02326" "MET_000122" "g.116339672C>T" "" "" "" "MET(NM_001127500.1):c.534C>T (p.S178=), MET(NM_001127500.3):c.534C>T (p.S178=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116699618C>T" "" "benign" "" "0000291748" "0" "30" "7" "116379998" "116379998" "subst" "4.46806E-5" "01943" "MET_000157" "g.116379998G>A" "" "" "" "MET(NM_001127500.1):c.1393-6G>A, MET(NM_001127500.3):c.1393-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116739944G>A" "" "likely benign" "" "0000291751" "0" "30" "7" "116411646" "116411646" "subst" "3.25164E-5" "01943" "MET_000163" "g.116411646C>T" "" "" "" "MET(NM_001127500.1):c.2879C>T (p.S960L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116771592C>T" "" "likely benign" "" "0000291752" "0" "30" "7" "116418932" "116418932" "subst" "0" "01943" "MET_000137" "g.116418932G>T" "" "" "" "MET(NM_001127500.1):c.3497G>T (p.R1166L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116778878G>T" "" "likely benign" "" "0000291753" "0" "30" "7" "116339642" "116339642" "subst" "0.00368533" "01943" "MET_000121" "g.116339642G>T" "" "" "" "MET(NM_000245.2):c.504G>T (p.(Glu168Asp)), MET(NM_000245.4):c.504G>T (p.E168D), MET(NM_001127500.1):c.504G>T (p.E168D), MET(NM_001127500.3):c.504G>..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116699588G>T" "" "likely benign" "" "0000291754" "0" "50" "7" "116340021" "116340021" "subst" "4.07382E-6" "01943" "MET_000123" "g.116340021C>T" "" "" "" "MET(NM_001127500.1):c.883C>T (p.P295S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116699967C>T" "" "VUS" "" "0000339309" "0" "10" "7" "116339282" "116339282" "subst" "0.0329887" "02327" "MET_000120" "g.116339282G>A" "" "" "" "MET(NM_001127500.1):c.144G>A (p.A48=), MET(NM_001127500.3):c.144G>A (p.A48=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116699228G>A" "" "benign" "" "0000339310" "0" "10" "7" "116339672" "116339672" "subst" "0.0569128" "02327" "MET_000122" "g.116339672C>T" "" "" "" "MET(NM_001127500.1):c.534C>T (p.S178=), MET(NM_001127500.3):c.534C>T (p.S178=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116699618C>T" "" "benign" "" "0000339311" "0" "10" "7" "116397572" "116397572" "subst" "0.182698" "02327" "MET_000153" "g.116397572A>G" "" "" "" "MET(NM_001127500.3):c.1944A>G (p.Q648=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116757518A>G" "" "benign" "" "0000339312" "0" "10" "7" "116435768" "116435768" "subst" "0.432284" "02327" "MET_000028" "g.116435768C>T" "" "" "" "MET(NM_001127500.1):c.3912C>T (p.D1304=), MET(NM_001127500.3):c.3912C>T (p.D1304=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116795714C>T" "" "benign" "" "0000339313" "0" "30" "7" "116435774" "116435774" "subst" "4.06279E-6" "02327" "MET_000155" "g.116435774C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116795720C>T" "" "likely benign" "" "0000339314" "0" "10" "7" "116436022" "116436022" "subst" "0.434048" "02327" "MET_000034" "g.116436022G>A" "" "" "" "MET(NM_001127500.1):c.4071G>A (p.A1357=), MET(NM_001127500.3):c.4071G>A (p.A1357=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116795968G>A" "" "benign" "" "0000339315" "0" "10" "7" "116436097" "116436097" "subst" "0.43425" "02327" "MET_000042" "g.116436097G>A" "" "" "" "MET(NM_001127500.1):c.4146G>A (p.P1382=), MET(NM_001127500.3):c.4146G>A (p.P1382=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116796043G>A" "" "benign" "" "0000343734" "0" "10" "7" "116340262" "116340262" "subst" "0.0272526" "02327" "MET_000151" "g.116340262A>G" "" "" "" "MET(NM_001127500.3):c.1124A>G (p.N375S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116700208A>G" "" "benign" "" "0000346047" "0" "50" "7" "116340309" "116340309" "subst" "0" "02327" "MET_000152" "g.116340309G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116700255G>A" "" "VUS" "" "0000347389" "0" "50" "7" "116423501" "116423501" "subst" "4.06507E-6" "02327" "MET_000154" "g.116423501A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116783447A>G" "" "VUS" "" "0000349429" "0" "30" "7" "116340039" "116340039" "subst" "0.000276961" "02327" "MET_000150" "g.116340039A>G" "" "" "" "MET(NM_001127500.1):c.901A>G (p.T301A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116699985A>G" "" "likely benign" "" "0000530448" "0" "10" "7" "116339121" "116339121" "subst" "0.000788817" "01943" "MET_000166" "g.116339121G>A" "" "" "" "MET(NM_000245.4):c.-14-4G>A, MET(NM_001127500.1):c.-14-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116699067G>A" "" "benign" "" "0000530449" "0" "30" "7" "116339174" "116339174" "subst" "0.000109762" "01943" "MET_000167" "g.116339174C>T" "" "" "" "MET(NM_001127500.1):c.36C>T (p.L12=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116699120C>T" "" "likely benign" "" "0000530451" "0" "10" "7" "116339528" "116339528" "subst" "0.00159071" "02330" "MET_000168" "g.116339528C>T" "" "" "" "MET(NM_001127500.3):c.390C>T (p.L130=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116699474C>T" "" "benign" "" "0000530452" "0" "30" "7" "116339642" "116339642" "subst" "0.00368533" "01804" "MET_000121" "g.116339642G>T" "" "" "" "MET(NM_000245.2):c.504G>T (p.(Glu168Asp)), MET(NM_000245.4):c.504G>T (p.E168D), MET(NM_001127500.1):c.504G>T (p.E168D), MET(NM_001127500.3):c.504G>..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116699588G>T" "" "likely benign" "" "0000530453" "0" "30" "7" "116339745" "116339745" "subst" "0.000592746" "01943" "MET_000169" "g.116339745T>A" "" "" "" "MET(NM_001127500.1):c.607T>A (p.S203T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116699691T>A" "" "likely benign" "" "0000530454" "0" "30" "7" "116339745" "116339745" "subst" "0.000592746" "02327" "MET_000169" "g.116339745T>A" "" "" "" "MET(NM_001127500.1):c.607T>A (p.S203T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116699691T>A" "" "likely benign" "" "0000530455" "0" "50" "7" "116339803" "116339803" "subst" "6.10635E-5" "02325" "MET_000170" "g.116339803C>T" "" "" "" "MET(NM_001127500.3):c.665C>T (p.T222M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116699749C>T" "" "VUS" "" "0000530456" "0" "30" "7" "116339936" "116339936" "subst" "0.000162804" "02330" "MET_000171" "g.116339936G>A" "" "" "" "MET(NM_001127500.1):c.798G>A (p.R266=), MET(NM_001127500.3):c.798G>A (p.R266=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116699882G>A" "" "likely benign" "" "0000530457" "0" "30" "7" "116339936" "116339936" "subst" "0.000162804" "01943" "MET_000171" "g.116339936G>A" "" "" "" "MET(NM_001127500.1):c.798G>A (p.R266=), MET(NM_001127500.3):c.798G>A (p.R266=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116699882G>A" "" "likely benign" "" "0000530458" "0" "30" "7" "116339971" "116339971" "subst" "0" "01943" "MET_000172" "g.116339971T>A" "" "" "" "MET(NM_001127500.1):c.833T>A (p.I278K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116699917T>A" "" "likely benign" "" "0000530459" "0" "50" "7" "116340039" "116340039" "subst" "0.000276961" "01943" "MET_000150" "g.116340039A>G" "" "" "" "MET(NM_001127500.1):c.901A>G (p.T301A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116699985A>G" "" "VUS" "" "0000530460" "0" "50" "7" "116340177" "116340177" "subst" "0.000432076" "02325" "MET_000173" "g.116340177G>A" "" "" "" "MET(NM_000245.4):c.1039G>A (p.A347T), MET(NM_001127500.1):c.1039G>A (p.A347T), MET(NM_001127500.3):c.1039G>A (p.A347T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116700123G>A" "" "VUS" "" "0000530461" "0" "10" "7" "116340223" "116340223" "subst" "0.00163776" "02330" "MET_000174" "g.116340223T>C" "" "" "" "MET(NM_001127500.3):c.1085T>C (p.M362T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116700169T>C" "" "benign" "" "0000530463" "0" "30" "7" "116380062" "116380062" "subst" "3.65577E-5" "01943" "MET_000175" "g.116380062A>G" "" "" "" "MET(NM_001127500.1):c.1451A>G (p.H484R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116740008A>G" "" "likely benign" "" "0000530464" "0" "50" "7" "116398664" "116398664" "subst" "0" "02330" "MET_000176" "g.116398664T>G" "" "" "" "MET(NM_001127500.3):c.2254T>G (p.S752A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116758610T>G" "" "VUS" "" "0000530465" "0" "30" "7" "116399407" "116399407" "subst" "0" "01943" "MET_000177" "g.116399407C>T" "" "" "" "MET(NM_001127500.1):c.2281C>T (p.P761S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116759353C>T" "" "likely benign" "" "0000530466" "0" "30" "7" "116399498" "116399498" "subst" "0.000109954" "01943" "MET_000158" "g.116399498C>T" "" "" "" "MET(NM_001127500.1):c.2372C>T (p.P791L), MET(NM_001127500.3):c.2372C>T (p.P791L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116759444C>T" "" "likely benign" "" "0000530467" "0" "50" "7" "116403282" "116403282" "subst" "2.44349E-5" "01943" "MET_000178" "g.116403282T>C" "" "" "" "MET(NM_001127500.1):c.2597T>C (p.V866A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116763228T>C" "" "VUS" "" "0000530469" "0" "30" "7" "116409691" "116409692" "del" "0.00534694" "01943" "MET_000180" "g.116409691_116409692del" "" "" "" "MET(NM_001127500.1):c.2638-8_2638-7delCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116769637_116769638del" "" "likely benign" "" "0000530472" "0" "30" "7" "116409693" "116409695" "dup" "0" "01943" "MET_000181" "g.116409693_116409695dup" "" "" "" "MET(NM_001127500.1):c.2638-5_2638-3dupTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116769639_116769641dup" "" "likely benign" "" "0000530473" "0" "30" "7" "116409695" "116409696" "ins" "0" "01943" "MET_000182" "g.116409695_116409696insTTTTT" "" "" "" "MET(NM_001127500.1):c.2638-7_2638-6insTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116769641_116769642insTTTTT" "" "likely benign" "" "0000530475" "0" "30" "7" "116409695" "116409696" "ins" "0" "01943" "MET_000183" "g.116409695_116409696insTTTTTT" "" "" "" "MET(NM_001127500.1):c.2638-7_2638-6insTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116769641_116769642insTTTTTT" "" "likely benign" "" "0000530477" "0" "30" "7" "116411586" "116411586" "subst" "0" "02329" "MET_000185" "g.116411586A>G" "" "" "" "MET(NM_001127500.3):c.2819A>G (p.K940R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116771532A>G" "" "likely benign" "" "0000530478" "0" "30" "7" "116411923" "116411923" "subst" "0.00288357" "02330" "MET_000164" "g.116411923C>T" "" "" "" "MET(NM_000245.4):c.2908C>T (p.(Arg970Cys)), MET(NM_001127500.1):c.2962C>T (p.R988C), MET(NM_001127500.3):c.2962C>T (p.R988C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116771869C>T" "" "likely benign" "" "0000530479" "0" "10" "7" "116411923" "116411923" "subst" "0.00288357" "02327" "MET_000164" "g.116411923C>T" "" "" "" "MET(NM_000245.4):c.2908C>T (p.(Arg970Cys)), MET(NM_001127500.1):c.2962C>T (p.R988C), MET(NM_001127500.3):c.2962C>T (p.R988C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116771869C>T" "" "benign" "" "0000530480" "0" "10" "7" "116411990" "116411990" "subst" "0.00797126" "02327" "MET_000133" "g.116411990C>T" "" "" "" "MET(NM_000245.4):c.2975C>T (p.(Thr992Ile)), MET(NM_001127500.1):c.3029C>T (p.T1010I), MET(NM_001127500.3):c.3029C>T (p.T1010I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116771936C>T" "" "benign" "" "0000530481" "0" "50" "7" "116415142" "116415142" "subst" "6.50068E-5" "01943" "MET_000186" "g.116415142A>G" "" "" "" "MET(NM_001127500.1):c.3290A>G (p.H1097R), MET(NM_001127500.3):c.3290A>G (p.H1097R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116775088A>G" "" "VUS" "" "0000530482" "0" "50" "7" "116415142" "116415142" "subst" "6.50068E-5" "02325" "MET_000186" "g.116415142A>G" "" "" "" "MET(NM_001127500.1):c.3290A>G (p.H1097R), MET(NM_001127500.3):c.3290A>G (p.H1097R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116775088A>G" "" "VUS" "" "0000530483" "0" "50" "7" "116418985" "116418985" "subst" "0" "01943" "MET_000187" "g.116418985C>T" "" "" "" "MET(NM_001127500.1):c.3550C>T (p.R1184*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116778931C>T" "" "VUS" "" "0000530484" "0" "30" "7" "116422068" "116422068" "subst" "0.000203711" "01943" "MET_000188" "g.116422068C>T" "" "" "" "MET(NM_001127500.1):c.3603C>T (p.G1201=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116782014C>T" "" "likely benign" "" "0000593702" "0" "50" "7" "116340184" "116340184" "subst" "0" "01164" "MET_000189" "g.116340184G>A" "" "" "" "" "ACMG grading: PM2" "Germline" "" "" "0" "" "" "g.116700130G>A" "" "VUS" "ACMG" "0000595664" "0" "50" "7" "116371806" "116371806" "subst" "4.06329E-6" "01164" "MET_000125" "g.116371806T>A" "" "" "" "" "ACMG grading: PM2" "Germline" "" "" "0" "" "" "g.116731752T>A" "" "VUS" "ACMG" "0000599065" "0" "10" "7" "116436022" "116436022" "subst" "0.434048" "02337" "MET_000034" "g.116436022G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.116795968G>A" "" "benign" "" "0000599066" "0" "10" "7" "116435768" "116435768" "subst" "0.432284" "02337" "MET_000028" "g.116435768C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.116795714C>T" "" "benign" "" "0000599067" "0" "10" "7" "116436097" "116436097" "subst" "0.43425" "02337" "MET_000042" "g.116436097G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.116796043G>A" "" "benign" "" "0000610628" "0" "10" "7" "116340269" "116340269" "subst" "0.0157369" "02327" "MET_000156" "g.116340269C>T" "" "" "" "MET(NM_001127500.3):c.1131C>T (p.I377=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116700215C>T" "" "benign" "" "0000610629" "0" "30" "7" "116436127" "116436127" "subst" "8.13531E-6" "01943" "MET_000149" "g.116436127C>T" "" "" "" "MET(NM_001127500.1):c.4176C>T (p.N1392=), MET(NM_001127500.3):c.4176C>T (p.N1392=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116796073C>T" "" "likely benign" "" "0000621801" "0" "30" "7" "116339248" "116339248" "subst" "0.0010364" "01943" "MET_000190" "g.116339248T>C" "" "" "" "MET(NM_001127500.1):c.110T>C (p.V37A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116699194T>C" "" "likely benign" "" "0000621802" "0" "10" "7" "116340177" "116340177" "subst" "0.000432076" "02330" "MET_000173" "g.116340177G>A" "" "" "" "MET(NM_000245.4):c.1039G>A (p.A347T), MET(NM_001127500.1):c.1039G>A (p.A347T), MET(NM_001127500.3):c.1039G>A (p.A347T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116700123G>A" "" "benign" "" "0000621803" "0" "30" "7" "116340239" "116340239" "subst" "2.66484E-5" "01943" "MET_000191" "g.116340239C>A" "" "" "" "MET(NM_001127500.1):c.1101C>A (p.I367=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116700185C>A" "" "likely benign" "" "0000640332" "1" "33" "7" "116339132" "116339132" "subst" "0" "00004" "MET_000192" "g.116339132T>C" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116699078T>C" "" "likely benign" "" "0000640333" "1" "33" "7" "116339174" "116339174" "subst" "0.000109762" "00004" "MET_000167" "g.116339174C>T" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116699120C>T" "" "likely benign" "" "0000640334" "1" "55" "7" "116339178" "116339178" "subst" "7.72421E-5" "00004" "MET_000193" "g.116339178C>T" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116699124C>T" "" "VUS" "" "0000640335" "1" "55" "7" "116339203" "116339203" "subst" "3.25174E-5" "00004" "MET_000194" "g.116339203G>T" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116699149G>T" "" "VUS" "" "0000640336" "1" "55" "7" "116339209" "116339209" "subst" "0.000138197" "00004" "MET_000195" "g.116339209G>A" "" "{DB:DVD}, {PMID:Bodian 2014:24728327}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}, {PMID:Finegold 2008:18564920}, {PMID:Amendola 2015:25637381}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116699155G>A" "" "VUS" "" "0000640337" "1" "55" "7" "116339241" "116339241" "subst" "9.7538E-5" "00004" "MET_000196" "g.116339241A>T" "" "{DB:DVD}, {PMID:Bodian 2014:24728327}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116699187A>T" "" "VUS" "" "0000640338" "1" "55" "7" "116339247" "116339247" "subst" "0" "00004" "MET_000197" "g.116339247G>T" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116699193G>T" "" "VUS" "" "0000640339" "1" "55" "7" "116339252" "116339252" "subst" "0" "00004" "MET_000198" "g.116339252T>A" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116699198T>A" "" "VUS" "" "0000640340" "1" "33" "7" "116339279" "116339279" "subst" "4.06461E-6" "00004" "MET_000199" "g.116339279C>T" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116699225C>T" "" "likely benign" "" "0000640341" "1" "55" "7" "116339284" "116339284" "subst" "2.84518E-5" "00004" "MET_000200" "g.116339284A>G" "" "{DB:DVD}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116699230A>G" "" "VUS" "" "0000640342" "1" "55" "7" "116339285" "116339285" "subst" "4.06468E-6" "00004" "MET_000201" "g.116339285A>G" "" "{DB:DVD}, {PMID:Bean 2013:23757202}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116699231A>G" "" "VUS" "" "0000640343" "1" "55" "7" "116339337" "116339337" "subst" "0" "00004" "MET_000202" "g.116339337A>T" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116699283A>T" "" "VUS" "" "0000640344" "1" "55" "7" "116339337" "116339337" "subst" "4.06911E-6" "00004" "MET_000203" "g.116339337A>G" "" "{DB:DVD}, {PMID:Johnston 2012:22703879}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116699283A>G" "" "VUS" "" "0000640345" "1" "55" "7" "116339427" "116339427" "subst" "2.84715E-5" "00004" "MET_000204" "g.116339427C>G" "" "{DB:DVD}, {PMID:Bean 2013:23757202}, {PMID:Bodian 2014:24728327}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116699373C>G" "" "VUS" "" "0000640346" "1" "55" "7" "116339544" "116339544" "subst" "0.00027269" "00004" "MET_000205" "g.116339544G>A" "" "{DB:DVD}, {PMID:Babel 1975:130870}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}, {PMID:Neklason 2011:21970370}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116699490G>A" "" "VUS" "" "0000640347" "1" "55" "7" "116339603" "116339603" "subst" "0" "00004" "MET_000206" "g.116339603G>T" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116699549G>T" "" "VUS" "" "0000640348" "1" "33" "7" "116339605" "116339605" "subst" "0.000204227" "00004" "MET_000207" "g.116339605C>T" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116699551C>T" "" "likely benign" "" "0000640349" "1" "11" "7" "116339606" "116339606" "subst" "0.000212439" "00004" "MET_000208" "g.116339606G>A" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116699552G>A" "" "benign" "" "0000640350" "1" "55" "7" "116339648" "116339648" "subst" "8.19773E-6" "00004" "MET_000209" "g.116339648C>G" "" "{DB:DVD}, {PMID:Bodian 2014:24728327}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116699594C>G" "" "VUS" "" "0000640351" "1" "55" "7" "116339660" "116339660" "subst" "0" "00004" "MET_000210" "g.116339660C>G" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116699606C>G" "" "VUS" "" "0000640352" "1" "99" "7" "116339673" "116339673" "subst" "0" "00004" "MET_000211" "g.116339673G>A" "" "{DB:DVD}, {PMID:Finegold 2008:18564920}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116699619G>A" "" "pathogenic" "" "0000640353" "1" "33" "7" "116339723" "116339723" "subst" "8.188E-6" "00004" "MET_000212" "g.116339723C>T" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116699669C>T" "" "likely benign" "" "0000640354" "1" "55" "7" "116339737" "116339737" "subst" "0" "00004" "MET_000213" "g.116339737C>A" "" "{DB:DVD}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116699683C>A" "" "VUS" "" "0000640355" "1" "33" "7" "116339745" "116339745" "subst" "0.000592746" "00004" "MET_000169" "g.116339745T>A" "" "{DB:DVD}, {PMID:Johnston 2012:22703879}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116699691T>A" "" "likely benign" "" "0000640356" "1" "55" "7" "116339761" "116339761" "subst" "1.63276E-5" "00004" "MET_000214" "g.116339761A>G" "" "{DB:DVD}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116699707A>G" "" "VUS" "" "0000640357" "1" "33" "7" "116339770" "116339770" "subst" "0.000256948" "00004" "MET_000215" "g.116339770T>G" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116699716T>G" "" "likely benign" "" "0000640358" "1" "33" "7" "116339777" "116339777" "subst" "2.03904E-5" "00004" "MET_000216" "g.116339777G>A" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116699723G>A" "" "likely benign" "" "0000640359" "1" "55" "7" "116339778" "116339778" "subst" "0" "00004" "MET_000217" "g.116339778A>G" "" "{DB:DVD}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116699724A>G" "" "VUS" "" "0000640360" "1" "55" "7" "116339803" "116339803" "subst" "6.10635E-5" "00004" "MET_000170" "g.116339803C>T" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116699749C>T" "" "VUS" "" "0000640361" "1" "33" "7" "116339807" "116339807" "subst" "0" "00004" "MET_000218" "g.116339807A>G" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116699753A>G" "" "likely benign" "" "0000640362" "1" "55" "7" "116339808" "116339808" "subst" "1.22066E-5" "00004" "MET_000219" "g.116339808G>T" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116699754G>T" "" "VUS" "" "0000640363" "1" "55" "7" "116339827" "116339827" "subst" "6.0993E-5" "00004" "MET_000220" "g.116339827C>T" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116699773C>T" "" "VUS" "" "0000640364" "1" "33" "7" "116339831" "116339831" "subst" "0" "00004" "MET_000221" "g.116339831C>T" "" "{DB:DVD}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116699777C>T" "" "likely benign" "" "0000640365" "1" "55" "7" "116339851" "116339851" "subst" "0.00021948" "00004" "MET_000222" "g.116339851T>C" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116699797T>C" "" "VUS" "" "0000640366" "1" "33" "7" "116339870" "116339870" "subst" "4.06405E-6" "00004" "MET_000223" "g.116339870T>G" "" "{DB:DVD}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116699816T>G" "" "likely benign" "" "0000640367" "1" "55" "7" "116339914" "116339914" "subst" "0" "00004" "MET_000224" "g.116339914T>C" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116699860T>C" "" "VUS" "" "0000640368" "1" "55" "7" "116339927" "116339927" "subst" "0.000158706" "00004" "MET_000225" "g.116339927G>A" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116699873G>A" "" "VUS" "" "0000640369" "1" "11" "7" "116339936" "116339936" "subst" "0.000162804" "00004" "MET_000171" "g.116339936G>A" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116699882G>A" "" "benign" "" "0000640370" "1" "55" "7" "116339956" "116339956" "subst" "8.14147E-6" "00004" "MET_000226" "g.116339956C>G" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116699902C>G" "" "VUS" "" "0000640371" "1" "55" "7" "116340039" "116340039" "subst" "0.000276961" "00004" "MET_000150" "g.116340039A>G" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116699985A>G" "" "VUS" "" "0000640372" "1" "33" "7" "116340077" "116340077" "subst" "1.22178E-5" "00004" "MET_000227" "g.116340077G>A" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116700023G>A" "" "likely benign" "" "0000640373" "1" "33" "7" "116340097" "116340097" "subst" "0.000301391" "00004" "MET_000228" "g.116340097C>T" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116700043C>T" "" "likely benign" "" "0000640374" "1" "33" "7" "116340098" "116340098" "subst" "6.10918E-5" "00004" "MET_000229" "g.116340098G>A" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116700044G>A" "" "likely benign" "" "0000640375" "1" "55" "7" "116340105" "116340105" "subst" "0.000399211" "00004" "MET_000230" "g.116340105A>G" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175} 0, 2, 201467281: INVALID PMID {PMID:Johnston 2012:22703879}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116700051A>G" "" "VUS" "" "0000640376" "1" "55" "7" "116340157" "116340157" "subst" "1.23676E-5" "00004" "MET_000231" "g.116340157A>G" "" "{DB:DVD}, {PMID:Bean 2013:23757202}, {PMID:Johnston 2012:22703879}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116700103A>G" "" "VUS" "" "0000640377" "1" "55" "7" "116340177" "116340177" "subst" "0.000432076" "00004" "MET_000173" "g.116340177G>A" "" "{DB:DVD}, {PMID:Krishnaswamy 2009:19723643}, {PMID:Bodian 2014:24728327}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}, {PMID:Raikes 1976:132694}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116700123G>A" "" "VUS" "" "0000640378" "1" "55" "7" "116340186" "116340186" "subst" "4.23449E-6" "00004" "MET_000232" "g.116340186A>C" "" "{DB:DVD}, {PMID:Johnston 2012:22703879}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116700132A>C" "" "VUS" "" "0000640379" "1" "55" "7" "116340189" "116340189" "subst" "0" "00004" "MET_000233" "g.116340189C>G" "" "{DB:DVD}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116700135C>G" "" "VUS" "" "0000640380" "1" "55" "7" "116340201" "116340201" "subst" "3.02697E-5" "00004" "MET_000234" "g.116340201G>A" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116700147G>A" "" "VUS" "" "0000640381" "1" "55" "7" "116340214" "116340214" "subst" "0.000235853" "00004" "MET_000235" "g.116340214G>A" "" "{DB:DVD}, {PMID:Bean 2013:23757202}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116700160G>A" "" "VUS" "" "0000640382" "1" "55" "7" "116340219" "116340219" "subst" "0" "00004" "MET_000236" "g.116340219G>T" "" "{DB:DVD}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116700165G>T" "" "VUS" "" "0000640383" "1" "55" "7" "116340270" "116340270" "subst" "4.3902E-5" "00004" "MET_000237" "g.116340270G>A" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116700216G>A" "" "VUS" "" "0000640384" "1" "33" "7" "116340308" "116340308" "subst" "0" "00004" "MET_000238" "g.116340308C>T" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116700254C>T" "" "likely benign" "" "0000640385" "1" "55" "7" "116340309" "116340309" "subst" "0" "00004" "MET_000152" "g.116340309G>A" "" "{DB:DVD}, {PMID:Bodian 2014:24728327}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116700255G>A" "" "VUS" "" "0000640386" "1" "55" "7" "116340318" "116340318" "subst" "0" "00004" "MET_000239" "g.116340318C>A" "" "{DB:DVD}, {PMID:Johnston 2012:22703879}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116700264C>A" "" "VUS" "" "0000640387" "1" "33" "7" "116340329" "116340329" "subst" "8.09744E-5" "00004" "MET_000240" "g.116340329C>T" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116700275C>T" "" "likely benign" "" "0000640388" "1" "55" "7" "116371753" "116371753" "subst" "1.62541E-5" "00004" "MET_000241" "g.116371753C>T" "" "{DB:DVD}, {PMID:Johnston 2012:22703879}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116731699C>T" "" "VUS" "" "0000640389" "1" "33" "7" "116371754" "116371754" "subst" "3.65735E-5" "00004" "MET_000242" "g.116371754G>A" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116731700G>A" "" "likely benign" "" "0000640390" "1" "55" "7" "116371758" "116371758" "subst" "0" "00004" "MET_000243" "g.116371758C>A" "" "{DB:DVD}, {PMID:Johnston 2012:22703879}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116731704C>A" "" "VUS" "" "0000640391" "1" "33" "7" "116371784" "116371784" "subst" "0.000170665" "00004" "MET_000244" "g.116371784C>T" "" "{DB:DVD}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116731730C>T" "" "likely benign" "" "0000640392" "1" "55" "7" "116371800" "116371800" "subst" "1.21904E-5" "00004" "MET_000245" "g.116371800G>A" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116731746G>A" "" "VUS" "" "0000640393" "1" "55" "7" "116371813" "116371813" "subst" "0" "00004" "MET_000246" "g.116371813T>C" "" "{DB:DVD}, {PMID:Johnston 2012:22703879}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116731759T>C" "" "VUS" "" "0000640394" "1" "55" "7" "116371825" "116371825" "subst" "0" "00004" "MET_000247" "g.116371825G>A" "" "{DB:DVD}, {PMID:Johnston 2012:22703879}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116731771G>A" "" "VUS" "" "0000640395" "1" "55" "7" "116371827" "116371827" "subst" "0" "00004" "MET_000248" "g.116371827G>C" "" "{DB:DVD}, {PMID:Johnston 2012:22703879}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116731773G>C" "" "VUS" "" "0000640396" "1" "55" "7" "116371833" "116371833" "subst" "0" "00004" "MET_000249" "g.116371833C>G" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116731779C>G" "" "VUS" "" "0000640397" "1" "55" "7" "116371866" "116371866" "subst" "0" "00004" "MET_000250" "g.116371866G>A" "" "{DB:DVD}, {PMID:Johnston 2012:22703879}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116731812G>A" "" "VUS" "" "0000640398" "1" "55" "7" "116371882" "116371882" "subst" "0" "00004" "MET_000251" "g.116371882A>T" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116731828A>T" "" "VUS" "" "0000640399" "1" "55" "7" "116371918" "116371918" "subst" "0" "00004" "MET_000252" "g.116371918G>A" "" "{DB:DVD}, {PMID:Johnston 2012:22703879}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116731864G>A" "" "VUS" "" "0000640400" "1" "55" "7" "116380023" "116380023" "subst" "8.52951E-5" "00004" "MET_000253" "g.116380023G>A" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116739969G>A" "" "VUS" "" "0000640401" "1" "55" "7" "116380055" "116380055" "subst" "1.21864E-5" "00004" "MET_000254" "g.116380055G>A" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116740001G>A" "" "VUS" "" "0000640402" "1" "55" "7" "116380062" "116380062" "subst" "3.65577E-5" "00004" "MET_000175" "g.116380062A>G" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116740008A>G" "" "VUS" "" "0000640403" "1" "55" "7" "116380083" "116380083" "subst" "3.24947E-5" "00004" "MET_000255" "g.116380083T>C" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116740029T>C" "" "VUS" "" "0000640404" "1" "33" "7" "116380096" "116380096" "subst" "0" "00004" "MET_000256" "g.116380096A>G" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116740042A>G" "" "likely benign" "" "0000640405" "1" "33" "7" "116380108" "116380108" "subst" "3.24947E-5" "00004" "MET_000257" "g.116380108T>C" "" "{DB:DVD}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116740054T>C" "" "likely benign" "" "0000640406" "1" "55" "7" "116380121" "116380121" "subst" "8.12407E-6" "00004" "MET_000258" "g.116380121G>T" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116740067G>T" "" "VUS" "" "0000640407" "1" "33" "7" "116381004" "116381004" "subst" "3.65738E-5" "00004" "MET_000259" "g.116381004C>T" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116740950C>T" "" "likely benign" "" "0000640408" "1" "55" "7" "116381022" "116381022" "subst" "1.21886E-5" "00004" "MET_000260" "g.116381022G>A" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116740968G>A" "" "VUS" "" "0000640409" "1" "33" "7" "116381037" "116381037" "subst" "4.46878E-5" "00004" "MET_000261" "g.116381037C>T" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116740983C>T" "" "likely benign" "" "0000640410" "1" "55" "7" "116381038" "116381038" "subst" "1.62491E-5" "00004" "MET_000262" "g.116381038G>A" "" "{DB:DVD}, {PMID:Bodian 2014:24728327}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116740984G>A" "" "VUS" "" "0000640411" "1" "55" "7" "116381047" "116381047" "subst" "6.0934E-5" "00004" "MET_000263" "g.116381047A>G" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116740993A>G" "" "VUS" "" "0000640412" "1" "55" "7" "116381137" "116381138" "dup" "0" "00004" "MET_000264" "g.116381137_116381138dup" "" "{DB:DVD}, {PMID:Bodian 2014:24728327}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116741083_116741084dup" "" "VUS" "" "0000640413" "1" "55" "7" "116381159" "116381159" "dup" "0" "00004" "MET_000265" "g.116381159dup" "" "{DB:DVD}, {PMID:Bodian 2014:24728327}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116741105dup" "" "VUS" "" "0000640414" "1" "55" "7" "116395430" "116395430" "subst" "0.000243881" "00004" "MET_000266" "g.116395430C>A" "" "{DB:DVD}, {PMID:Bodian 2014:24728327}, {PMID:Knoll 1979:121352}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175} 0, 2," "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116755376C>A" "" "VUS" "" "0000640415" "1" "55" "7" "116395446" "116395446" "subst" "4.06497E-6" "00004" "MET_000267" "g.116395446G>A" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116755392G>A" "" "VUS" "" "0000640416" "1" "55" "7" "116395477" "116395477" "subst" "8.12929E-6" "00004" "MET_000268" "g.116395477T>G" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116755423T>G" "" "VUS" "" "0000640417" "1" "55" "7" "116395478" "116395478" "subst" "3.65851E-5" "00004" "MET_000269" "g.116395478C>T" "" "{DB:DVD}, {PMID:Bodian 2014:24728327}, {PMID:Hampel 2015:25394175}, {PMID:Reaume 2013:24319509}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116755424C>T" "" "VUS" "" "0000640418" "1" "55" "7" "116395517" "116395517" "subst" "2.84467E-5" "00004" "MET_000270" "g.116395517C>G" "" "{DB:DVD}, {PMID:Johnston 2012:22703879}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116755463C>G" "" "VUS" "" "0000640419" "1" "33" "7" "116397524" "116397524" "subst" "1.62748E-5" "00004" "MET_000271" "g.116397524G>A" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116757470G>A" "" "likely benign" "" "0000640420" "1" "11" "7" "116397560" "116397560" "subst" "0.000126066" "00004" "MET_000272" "g.116397560C>T" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116757506C>T" "" "benign" "" "0000640421" "1" "55" "7" "116397613" "116397613" "subst" "0" "00004" "MET_000273" "g.116397613A>G" "" "{DB:DVD}, {PMID:Bodian 2014:24728327}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116757559A>G" "" "VUS" "" "0000640422" "1" "55" "7" "116397698" "116397698" "subst" "1.62603E-5" "00004" "MET_000274" "g.116397698G>A" "" "{DB:DVD}, {PMID:Bodian 2014:24728327}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116757644G>A" "" "VUS" "" "0000640423" "1" "55" "7" "116397710" "116397710" "subst" "1.21951E-5" "00004" "MET_000275" "g.116397710A>G" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116757656A>G" "" "VUS" "" "0000640424" "1" "55" "7" "116398520" "116398520" "subst" "1.62705E-5" "00004" "MET_000276" "g.116398520A>G" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116758466A>G" "" "VUS" "" "0000640425" "1" "55" "7" "116398608" "116398608" "subst" "7.7264E-5" "00004" "MET_000277" "g.116398608C>T" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116758554C>T" "" "VUS" "" "0000640426" "1" "55" "7" "116398625" "116398625" "subst" "0" "00004" "MET_000278" "g.116398625C>G" "" "{DB:DVD}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116758571C>G" "" "VUS" "" "0000640427" "1" "55" "7" "116398626" "116398626" "subst" "8.94833E-5" "00004" "MET_000279" "g.116398626G>A" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116758572G>A" "" "VUS" "" "0000640428" "1" "55" "7" "116399397" "116399397" "subst" "0" "00004" "MET_000280" "g.116399397G>T" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116759343G>T" "" "VUS" "" "0000640429" "1" "33" "7" "116399430" "116399430" "subst" "4.12933E-6" "00004" "MET_000281" "g.116399430A>G" "" "{DB:DVD}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116759376A>G" "" "likely benign" "" "0000640430" "1" "55" "7" "116399458" "116399458" "subst" "8.15209E-6" "00004" "MET_000282" "g.116399458A>G" "" "{DB:DVD}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116759404A>G" "" "VUS" "" "0000640431" "1" "99" "7" "116399498" "116399498" "subst" "0.000109954" "00004" "MET_000158" "g.116399498C>T" "" "{DB:DVD}, {PMID:Kim 2003:12920089}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116759444C>T" "" "pathogenic" "" "0000640432" "1" "33" "7" "116399517" "116399517" "subst" "0" "00004" "MET_000283" "g.116399517G>A" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116759463G>A" "" "likely benign" "" "0000640433" "1" "55" "7" "116399543" "116399543" "subst" "0" "00004" "MET_000284" "g.116399543T>C" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116759489T>C" "" "VUS" "" "0000640434" "1" "55" "7" "116403122" "116403122" "subst" "0" "00004" "MET_000285" "g.116403122A>G" "" "{DB:DVD}, {PMID:Johnston 2012:22703879}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116763068A>G" "" "VUS" "" "0000640435" "1" "55" "7" "116403132" "116403132" "subst" "1.62809E-5" "00004" "MET_000286" "g.116403132T>G" "" "{DB:DVD}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116763078T>G" "" "VUS" "" "0000640436" "1" "55" "7" "116403173" "116403173" "subst" "0.000150471" "00004" "MET_000287" "g.116403173C>G" "" "{DB:DVD}, {PMID:Bean 2013:23757202}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116763119C>G" "" "VUS" "" "0000640437" "1" "55" "7" "116403194" "116403194" "subst" "1.62722E-5" "00004" "MET_000288" "g.116403194G>A" "" "{DB:DVD}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116763140G>A" "" "VUS" "" "0000640438" "3" "90" "7" "116403260" "116403260" "subst" "0" "00004" "MET_000289" "g.116403260T>G" "" "{DB:DVD}, {PMID:Alford 2014:24651602}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116763206T>G" "" "pathogenic (recessive)" "" "0000640439" "1" "55" "7" "116403282" "116403282" "subst" "2.44349E-5" "00004" "MET_000178" "g.116403282T>C" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116763228T>C" "" "VUS" "" "0000640440" "1" "55" "7" "116403287" "116403287" "subst" "1.22189E-5" "00004" "MET_000290" "g.116403287A>G" "" "{DB:DVD}, {PMID:Bodian 2014:24728327}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116763233A>G" "" "VUS" "" "0000640441" "1" "55" "7" "116403294" "116403294" "subst" "2.03709E-5" "00004" "MET_000291" "g.116403294T>A" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116763240T>A" "" "VUS" "" "0000640442" "1" "33" "7" "116403307" "116403307" "subst" "7.746E-5" "00004" "MET_000292" "g.116403307T>C" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116763253T>C" "" "likely benign" "" "0000640443" "1" "55" "7" "116409692" "116409692" "del" "0.0015537" "00004" "MET_000293" "g.116409692del" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116769638del" "" "VUS" "" "0000640444" "1" "33" "7" "116409731" "116409731" "subst" "0" "00004" "MET_000294" "g.116409731T>C" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116769677T>C" "" "likely benign" "" "0000640445" "1" "33" "7" "116409773" "116409773" "subst" "8.13511E-5" "00004" "MET_000295" "g.116409773C>T" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116769719C>T" "" "likely benign" "" "0000640446" "1" "55" "7" "116409800" "116409800" "subst" "1.22047E-5" "00004" "MET_000296" "g.116409800G>A" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116769746G>A" "" "VUS" "" "0000640447" "1" "33" "7" "116409830" "116409830" "subst" "9.35644E-5" "00004" "MET_000297" "g.116409830C>T" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116769776C>T" "" "likely benign" "" "0000640448" "1" "33" "7" "116411544" "116411544" "subst" "4.475E-5" "00004" "MET_000298" "g.116411544A>T" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116771490A>T" "" "likely benign" "" "0000640449" "1" "55" "7" "116411646" "116411646" "subst" "3.25164E-5" "00004" "MET_000163" "g.116411646C>T" "" "{DB:DVD}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116771592C>T" "" "VUS" "" "0000640450" "1" "55" "7" "116411923" "116411923" "subst" "0.00288357" "00004" "MET_000164" "g.116411923C>T" "" "{DB:DVD}, {PMID:Bodian 2014:24728327}, {PMID:Bean 2013:23757202}, {PMID:Tyner 2010:20670955}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}, {PMID:Ma 2003:14559814}, {PMID:Tjin 2006:16189274}, {PMID:Johnston 2012:22703879}, {PMID:Finegold 2008:18564920}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116771869C>T" "" "VUS" "" "0000640451" "1" "55" "7" "116411924" "116411924" "subst" "1.63151E-5" "00004" "MET_000299" "g.116411924G>A" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116771870G>A" "" "VUS" "" "0000640452" "1" "33" "7" "116411928" "116411928" "subst" "4.07844E-5" "00004" "MET_000300" "g.116411928C>T" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116771874C>T" "" "likely benign" "" "0000640453" "1" "99" "7" "116411986" "116411986" "subst" "2.44662E-5" "00004" "MET_000301" "g.116411986C>T" "" "{DB:DVD}, {PMID:Lee 2000:11042681}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116771932C>T" "" "pathogenic" "" "0000640454" "1" "55" "7" "116411992" "116411992" "subst" "1.22311E-5" "00004" "MET_000302" "g.116411992A>G" "" "{DB:DVD}, {PMID:Bodian 2014:24728327}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116771938A>G" "" "VUS" "" "0000640455" "1" "55" "7" "116414936" "116414936" "subst" "4.07412E-6" "00004" "MET_000303" "g.116414936T>A" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116774882T>A" "" "VUS" "" "0000640456" "1" "55" "7" "116414971" "116414971" "subst" "0.000109807" "00004" "MET_000304" "g.116414971G>A" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116774917G>A" "" "VUS" "" "0000640457" "1" "55" "7" "116414971" "116414971" "subst" "8.13385E-6" "00004" "MET_000305" "g.116414971G>T" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116774917G>T" "" "VUS" "" "0000640458" "1" "33" "7" "116415074" "116415074" "subst" "4.87654E-5" "00004" "MET_000306" "g.116415074T>C" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116775020T>C" "" "likely benign" "" "0000640459" "1" "55" "7" "116415105" "116415105" "subst" "5.28275E-5" "00004" "MET_000307" "g.116415105C>A" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116775051C>A" "" "VUS" "" "0000640460" "1" "55" "7" "116415123" "116415123" "subst" "0.000280324" "00004" "MET_000308" "g.116415123C>T" "" "{DB:DVD}, {PMID:Bean 2013:23757202}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116775069C>T" "" "VUS" "" "0000640461" "1" "55" "7" "116415124" "116415124" "subst" "0.000113755" "00004" "MET_000309" "g.116415124C>T" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116775070C>T" "" "VUS" "" "0000640462" "1" "55" "7" "116415142" "116415142" "subst" "6.50068E-5" "00004" "MET_000186" "g.116415142A>G" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116775088A>G" "" "VUS" "" "0000640463" "1" "33" "7" "116417439" "116417439" "subst" "0" "00004" "MET_000310" "g.116417439A>G" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116777385A>G" "" "likely benign" "" "0000640464" "1" "55" "7" "116417446" "116417446" "subst" "0" "00004" "MET_000311" "g.116417446A>G" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116777392A>G" "" "VUS" "" "0000640465" "1" "99" "7" "116417457" "116417457" "subst" "0" "00004" "MET_000134" "g.116417457G>A" "" "{DB:DVD}, {PMID:Hampel 2015:25394175}, {PMID:Olivero 1999:10417759}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116777403G>A" "" "pathogenic" "" "0000640466" "1" "99" "7" "116417457" "116417457" "subst" "0" "00004" "MET_000312" "g.116417457G>T" "" "{DB:DVD}, {PMID:Wadt 2012:22717761}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116777403G>T" "" "pathogenic" "" "0000640467" "1" "99" "7" "116417463" "116417463" "subst" "0" "00004" "MET_000135" "g.116417463C>T" "" "{DB:DVD}, {PMID:Schmidt 1999:10327054}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116777409C>T" "" "pathogenic" "" "0000640468" "1" "99" "7" "116417464" "116417464" "subst" "1.21954E-5" "00004" "MET_000165" "g.116417464A>G" "" "{DB:DVD}, {PMID:Bean 2013:23757202}, {PMID:Zhuang 1998:9731534}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}, {PMID:Schmidt 1998:9563489}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116777410A>G" "" "pathogenic" "" "0000640469" "1" "55" "7" "116417479" "116417479" "subst" "1.62596E-5" "00004" "MET_000313" "g.116417479A>G" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116777425A>G" "" "VUS" "" "0000640470" "1" "55" "7" "116418845" "116418845" "subst" "4.06865E-5" "00004" "MET_000314" "g.116418845G>C" "" "{DB:DVD}, {PMID:Johnston 2012:22703879}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116778791G>C" "" "VUS" "" "0000640471" "1" "99" "7" "116418881" "116418881" "subst" "0" "00004" "MET_000136" "g.116418881T>C" "" "{DB:DVD}, {PMID:Hampel 2015:25394175}, {PMID:Schmidt 1997:9140397}, {PMID:Reaume 2013:24319509}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116778827T>C" "" "pathogenic" "" "0000640472" "1" "77" "7" "116418932" "116418932" "subst" "8.13504E-6" "00004" "MET_000315" "g.116418932G>A" "" "{DB:DVD}, {PMID:Tjin 2006:16189274}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116778878G>A" "" "likely pathogenic" "" "0000640473" "1" "33" "7" "116418966" "116418966" "subst" "2.84803E-5" "00004" "MET_000316" "g.116418966C>T" "" "{DB:DVD}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116778912C>T" "" "likely benign" "" "0000640474" "1" "55" "7" "116418986" "116418986" "subst" "0.000122102" "00004" "MET_000317" "g.116418986G>A" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116778932G>A" "" "VUS" "" "0000640475" "1" "55" "7" "116418998" "116418998" "subst" "8.14319E-6" "00004" "MET_000318" "g.116418998G>A" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116778944G>A" "" "VUS" "" "0000640476" "1" "99" "7" "116419007" "116419007" "subst" "0" "00004" "MET_000319" "g.116419007C>T" "" "{DB:DVD}, {PMID:Park 1999:9927037}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116778953C>T" "" "pathogenic" "" "0000640477" "1" "55" "7" "116419010" "116419010" "subst" "6.11038E-5" "00004" "MET_000320" "g.116419010A>G" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116778956A>G" "" "VUS" "" "0000640478" "1" "11" "7" "116422068" "116422068" "subst" "0.000203711" "00004" "MET_000188" "g.116422068C>T" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116782014C>T" "" "benign" "" "0000640479" "1" "99" "7" "116422081" "116422081" "subst" "0" "00004" "MET_000140" "g.116422081G>T" "" "{DB:DVD}, {PMID:Hampel 2015:25394175}, {PMID:Schmidt 1997:9140397}, {PMID:Reaume 2013:24319509}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116782027G>T" "" "pathogenic" "" "0000640480" "1" "99" "7" "116422102" "116422102" "subst" "0" "00004" "MET_000321" "g.116422102C>G" "" "{DB:DVD}, {PMID:Hampel 2015:25394175}, {PMID:Schmidt 1997:9140397}, {PMID:Reaume 2013:24319509}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116782048C>G" "" "pathogenic" "" "0000640481" "1" "33" "7" "116423351" "116423351" "subst" "0" "00004" "MET_000322" "g.116423351T>C" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116783297T>C" "" "likely benign" "" "0000640482" "1" "99" "7" "116423383" "116423383" "subst" "0" "00004" "MET_000141" "g.116423383G>A" "" "{DB:DVD}, {PMID:Hampel 2015:25394175}, {PMID:Schmidt 1997:9140397}, {PMID:Reaume 2013:24319509}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116783329G>A" "" "pathogenic" "" "0000640483" "1" "99" "7" "116423407" "116423407" "subst" "0" "00004" "MET_000142" "g.116423407G>A" "" "{DB:DVD}, {PMID:Hampel 2015:25394175}, {PMID:Schmidt 1997:9140397}, {PMID:Reaume 2013:24319509}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116783353G>A" "" "pathogenic" "" "0000640484" "1" "33" "7" "116423409" "116423409" "subst" "1.21984E-5" "00004" "MET_000323" "g.116423409C>T" "" "{DB:DVD}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116783355C>T" "" "likely benign" "" "0000640485" "1" "99" "7" "116423413" "116423413" "subst" "0" "00004" "MET_000143" "g.116423413T>G" "" "{DB:DVD}, {PMID:Lubensky 1999:10433944}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116783359T>G" "" "pathogenic" "" "0000640486" "1" "99" "7" "116423414" "116423414" "subst" "0" "00004" "MET_000144" "g.116423414A>G" "" "{DB:DVD}, {PMID:Hampel 2015:25394175}, {PMID:Schmidt 1997:9140397}, {PMID:Reaume 2013:24319509}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116783360A>G" "" "pathogenic" "" "0000640487" "1" "99" "7" "116423456" "116423456" "subst" "0" "00004" "MET_000324" "g.116423456A>G" "" "{DB:DVD}, {PMID:Park 1999:9927037}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116783402A>G" "" "pathogenic" "" "0000640488" "1" "99" "7" "116423474" "116423474" "subst" "0" "00004" "MET_000146" "g.116423474T>C" "" "{DB:DVD}, {PMID:Lubensky 1999:10433944}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116783420T>C" "" "pathogenic" "" "0000640489" "1" "99" "7" "116423475" "116423475" "subst" "0" "00004" "MET_000325" "g.116423475G>A" "" "{DB:DVD}, {PMID:Park 1999:9927037}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116783421G>A" "" "pathogenic" "" "0000640490" "1" "55" "7" "116423528" "116423528" "subst" "9.35568E-5" "00004" "MET_000326" "g.116423528T>C" "" "{DB:DVD}, {PMID:Buratti 2007:17576681}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116783474T>C" "" "VUS" "" "0000640491" "1" "33" "7" "116435720" "116435720" "subst" "0.00035766" "00004" "MET_000327" "g.116435720C>T" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116795666C>T" "" "likely benign" "" "0000640492" "1" "33" "7" "116435777" "116435777" "subst" "0" "00004" "MET_000328" "g.116435777C>T" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116795723C>T" "" "likely benign" "" "0000640493" "1" "55" "7" "116435786" "116435786" "subst" "4.06256E-6" "00004" "MET_000329" "g.116435786A>G" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116795732A>G" "" "VUS" "" "0000640494" "1" "55" "7" "116435978" "116435978" "subst" "0" "00004" "MET_000330" "g.116435978G>A" "" "{DB:DVD}, {PMID:Bodian 2014:24728327}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116795924G>A" "" "VUS" "" "0000640495" "1" "55" "7" "116436012" "116436012" "subst" "2.43968E-5" "00004" "MET_000331" "g.116436012G>A" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116795958G>A" "" "VUS" "" "0000640496" "1" "55" "7" "116436016" "116436016" "subst" "4.06577E-6" "00004" "MET_000332" "g.116436016A>G" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116795962A>G" "" "VUS" "" "0000640497" "1" "33" "7" "116436022" "116436022" "subst" "1.62635E-5" "00004" "MET_000333" "g.116436022G>C" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116795968G>C" "" "likely benign" "" "0000640498" "1" "55" "7" "116436047" "116436047" "subst" "1.2198E-5" "00004" "MET_000334" "g.116436047C>A" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116795993C>A" "" "VUS" "" "0000640499" "1" "55" "7" "116436062" "116436062" "subst" "4.06564E-6" "00004" "MET_000335" "g.116436062A>G" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116796008A>G" "" "VUS" "" "0000640500" "1" "55" "7" "116436080" "116436080" "subst" "4.0665E-5" "00004" "MET_000336" "g.116436080G>A" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116796026G>A" "" "VUS" "" "0000640501" "1" "55" "7" "116436105" "116436105" "subst" "2.84678E-5" "00004" "MET_000337" "g.116436105C>G" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116796051C>G" "" "VUS" "" "0000640502" "1" "55" "7" "116436122" "116436122" "subst" "0.000130177" "00004" "MET_000338" "g.116436122G>C" "" "{DB:DVD}, {PMID:Bean 2013:23757202}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116796068G>C" "" "VUS" "" "0000640503" "1" "33" "7" "116436127" "116436127" "subst" "8.13531E-6" "00004" "MET_000149" "g.116436127C>T" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116796073C>T" "" "likely benign" "" "0000640504" "1" "55" "7" "116436149" "116436149" "subst" "1.2205E-5" "00004" "MET_000339" "g.116436149C>T" "" "{DB:DVD}, {PMID:Wadt 2012:22717761}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116796095C>T" "" "VUS" "" "0000640505" "1" "55" "7" "116436150" "116436150" "subst" "2.03431E-5" "00004" "MET_000340" "g.116436150G>A" "" "{DB:DVD}, {PMID:Reaume 2013:24319509}, {PMID:Hampel 2015:25394175}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116796096G>A" "" "VUS" "" "0000640506" "1" "55" "7" "116436156" "116436156" "subst" "0" "00004" "MET_000341" "g.116436156C>G" "" "{DB:DVD}, {PMID:Johnston 2012:22703879}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.116796102C>G" "" "VUS" "" "0000652125" "1" "30" "7" "116339282" "116339282" "subst" "0.0329887" "03575" "MET_000120" "g.116339282G>A" "57/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "57 heterozygous, no homozygous; {DB:CLININrs11762213}" "Germline" "" "rs11762213" "0" "" "" "g.116699228G>A" "" "likely benign" "" "0000652126" "1" "50" "7" "116411990" "116411990" "subst" "0.00797126" "03575" "MET_000133" "g.116411990C>T" "14/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 14 heterozygous, no homozygous; {DB:CLININrs56391007}" "Germline" "" "rs56391007" "0" "" "" "g.116771936C>T" "" "VUS" "" "0000655713" "0" "10" "7" "116339121" "116339121" "subst" "0.000788817" "02330" "MET_000166" "g.116339121G>A" "" "" "" "MET(NM_000245.4):c.-14-4G>A, MET(NM_001127500.1):c.-14-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116699067G>A" "" "benign" "" "0000655714" "0" "30" "7" "116339209" "116339209" "subst" "0.000138197" "02327" "MET_000195" "g.116339209G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116699155G>A" "" "likely benign" "" "0000663708" "0" "50" "7" "116422102" "116422102" "subst" "0" "01164" "MET_000342" "g.116422102C>T" "" "" "" "" "ACMG grading: PM2,PP3\r\nPM2,PM5,PP3: class 3" "Germline" "" "rs121913673" "0" "" "" "g.116782048C>T" "" "VUS" "ACMG" "0000675230" "0" "70" "7" "116399397" "116399397" "subst" "4.70677E-6" "03753" "MET_000343" "g.116399397G>A" "0.03" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000689867" "0" "30" "7" "116380025" "116380025" "subst" "8.12334E-6" "01943" "MET_000344" "g.116380025C>T" "" "" "" "MET(NM_001127500.1):c.1414C>T (p.P472S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000699895" "0" "50" "7" "0" "0" "" "0" "00006" "EZH2_000001" "g.?" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000765652" "0" "90" "7" "116417518" "116417518" "subst" "0" "04055" "MET_000345" "g.116417518T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.116777464T>C" "" "pathogenic" "ACMG" "0000780181" "0" "70" "7" "116417502" "116417502" "subst" "0" "04055" "MET_000347" "g.116417502T>G" "" "" "" "" "Functional studies have been performed" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000780183" "0" "70" "7" "116415157" "116415157" "subst" "0" "04055" "MET_000348" "g.116415157T>C" "" "" "" "" "Functional studies have been performed" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000780184" "0" "50" "7" "116415109" "116415109" "subst" "0" "04055" "MET_000346" "g.116415109A>T" "" "" "" "" "Functional studies have been performed" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000780186" "0" "50" "7" "116415019" "116415019" "subst" "0" "04055" "MET_000349" "g.116415019G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000780187" "0" "50" "7" "116412013" "116412013" "subst" "0" "04055" "MET_000350" "g.116412013T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000780189" "0" "50" "7" "116371798" "116371798" "subst" "0" "04055" "MET_000351" "g.116371798G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000780195" "0" "50" "7" "116395408" "116438440" "dup" "0" "04055" "MET_000352" "g.(116381080_116395408)_(116438440_?)dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000802853" "0" "10" "7" "116339241" "116339241" "subst" "9.7538E-5" "02330" "MET_000196" "g.116339241A>T" "" "" "" "MET(NM_000245.4):c.103A>T (p.M35L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000802854" "0" "50" "7" "116339382" "116339382" "subst" "0" "02326" "MET_000353" "g.116339382G>A" "" "" "" "MET(NM_001127500.1):c.244G>A (p.A82T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802855" "0" "30" "7" "116339605" "116339605" "subst" "0.000204227" "01943" "MET_000207" "g.116339605C>T" "" "" "" "MET(NM_001127500.1):c.467C>T (p.S156L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802856" "0" "30" "7" "116339927" "116339927" "subst" "0.000158706" "01943" "MET_000225" "g.116339927G>A" "" "" "" "MET(NM_001127500.1):c.789G>A (p.T263=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802857" "0" "50" "7" "116340039" "116340039" "subst" "0.000276961" "02369" "MET_000150" "g.116340039A>G" "" "" "" "MET(NM_001127500.1):c.901A>G (p.T301A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802858" "0" "50" "7" "116340177" "116340177" "subst" "0.000432076" "01943" "MET_000173" "g.116340177G>A" "" "" "" "MET(NM_000245.4):c.1039G>A (p.A347T), MET(NM_001127500.1):c.1039G>A (p.A347T), MET(NM_001127500.3):c.1039G>A (p.A347T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802859" "0" "30" "7" "116381037" "116381037" "subst" "4.46878E-5" "02327" "MET_000261" "g.116381037C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802860" "0" "10" "7" "116409690" "116409690" "del" "0" "02369" "MET_000159" "g.116409690del" "" "" "" "MET(NM_001127500.1):c.2638-9delT, MET(NM_001127500.3):c.2638-9delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000802861" "0" "30" "7" "116411379" "116411379" "subst" "0" "02369" "MET_000354" "g.116411379A>T" "" "" "" "MET(NM_001127500.1):c.2785-173A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802862" "0" "10" "7" "116411441" "116411441" "subst" "0" "02369" "MET_000355" "g.116411441T>C" "" "" "" "MET(NM_001127500.1):c.2785-111T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000802863" "0" "50" "7" "116411923" "116411923" "subst" "0" "02327" "MET_000356" "g.116411923C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802864" "0" "30" "7" "116419011" "116419011" "subst" "0.000615071" "02330" "MET_000357" "g.116419011T>C" "" "" "" "MET(NM_000245.4):c.3522T>C (p.H1174=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802865" "0" "50" "7" "116422084" "116422084" "subst" "4.07242E-6" "01943" "MET_000358" "g.116422084G>A" "" "" "" "MET(NM_001127500.1):c.3619G>A (p.A1207T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802866" "0" "30" "7" "116436110" "116436110" "subst" "0.000630404" "01943" "MET_000359" "g.116436110T>C" "" "" "" "MET(NM_001127500.1):c.4159T>C (p.L1387=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000846502" "3" "70" "7" "116418992" "116418992" "subst" "0" "00000" "MET_000360" "g.116418992T>G" "" "{PMID:Alabdullatif 2017:27717089}" "" "MET c.3557T>G, (p.Phe1186Cys)" "homozygous" "Germline" "yes" "" "0" "" "" "g.116778938T>G" "" "likely pathogenic" "" "0000846503" "3" "70" "7" "116418992" "116418992" "subst" "0" "00000" "MET_000360" "g.116418992T>G" "" "{PMID:Alabdullatif 2017:27717089}" "" "MET c.3557T>G, (p.Phe1186Cys)" "homozygous" "Germline" "yes" "" "0" "" "" "g.116778938T>G" "" "likely pathogenic" "" "0000851378" "0" "50" "7" "116340097" "116340097" "subst" "0.000301391" "01943" "MET_000228" "g.116340097C>T" "" "" "" "MET(NM_001127500.1):c.959C>T (p.A320V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851379" "0" "10" "7" "116398763" "116398763" "subst" "0" "02327" "MET_000117" "g.116398763C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851380" "0" "50" "7" "116409739" "116409739" "subst" "0" "02326" "MET_000361" "g.116409739T>G" "" "" "" "MET(NM_001127500.1):c.2678T>G (p.L893*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851381" "0" "30" "7" "116418844" "116418844" "subst" "0" "02369" "MET_000362" "g.116418844G>A" "" "" "" "MET(NM_001127500.1):c.3409G>A (p.G1137R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860586" "0" "10" "7" "116339528" "116339528" "subst" "0.00159071" "02327" "MET_000168" "g.116339528C>T" "" "" "" "MET(NM_001127500.3):c.390C>T (p.L130=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860587" "0" "10" "7" "116339642" "116339642" "subst" "0.00368533" "02330" "MET_000121" "g.116339642G>T" "" "" "" "MET(NM_000245.2):c.504G>T (p.(Glu168Asp)), MET(NM_000245.4):c.504G>T (p.E168D), MET(NM_001127500.1):c.504G>T (p.E168D), MET(NM_001127500.3):c.504G>..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860588" "0" "10" "7" "116340223" "116340223" "subst" "0.00163776" "02327" "MET_000174" "g.116340223T>C" "" "" "" "MET(NM_001127500.3):c.1085T>C (p.M362T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887552" "0" "10" "7" "116339642" "116339642" "subst" "0.00368533" "02326" "MET_000121" "g.116339642G>T" "" "" "" "MET(NM_000245.2):c.504G>T (p.(Glu168Asp)), MET(NM_000245.4):c.504G>T (p.E168D), MET(NM_001127500.1):c.504G>T (p.E168D), MET(NM_001127500.3):c.504G>..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887553" "0" "30" "7" "116371707" "116371707" "del" "0" "02326" "MET_000363" "g.116371707del" "" "" "" "MET(NM_001127500.1):c.1201-15delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887554" "0" "30" "7" "116397656" "116397656" "subst" "0.000150552" "02327" "MET_000364" "g.116397656A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887555" "0" "50" "7" "116415142" "116415142" "subst" "6.50068E-5" "02329" "MET_000186" "g.116415142A>G" "" "" "" "MET(NM_001127500.1):c.3290A>G (p.H1097R), MET(NM_001127500.3):c.3290A>G (p.H1097R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887556" "0" "30" "7" "116436127" "116436127" "subst" "8.13531E-6" "02327" "MET_000149" "g.116436127C>T" "" "" "" "MET(NM_001127500.1):c.4176C>T (p.N1392=), MET(NM_001127500.3):c.4176C>T (p.N1392=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912619" "0" "50" "7" "116339525" "116339525" "subst" "0" "02327" "MET_000365" "g.116339525A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912620" "0" "30" "7" "116340177" "116340177" "subst" "0.000432076" "02327" "MET_000173" "g.116340177G>A" "" "" "" "MET(NM_000245.4):c.1039G>A (p.A347T), MET(NM_001127500.1):c.1039G>A (p.A347T), MET(NM_001127500.3):c.1039G>A (p.A347T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912621" "0" "30" "7" "116419023" "116419023" "subst" "0.000293537" "02327" "MET_000138" "g.116419023G>T" "" "" "" "MET(NM_001127500.3):c.3576+12G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927949" "0" "90" "7" "116412043" "116412048" "delins" "0" "03779" "MET_000366" "g.116412043_116412048delinsT" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000929267" "0" "30" "7" "116339544" "116339544" "subst" "0.00027269" "02329" "MET_000205" "g.116339544G>A" "" "" "" "MET(NM_001127500.3):c.406G>A (p.V136I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000944520" "3" "90" "7" "116403260" "116403260" "subst" "0" "00006" "MET_000289" "g.116403260T>G" "" "{PMID:Mujtaba 2015:25941349}, {PMID:Naz 2017:27573290}" "" "NM_000245.2:2521T>G" "" "Germline" "" "" "0" "" "" "g.116763206T>G" "" "pathogenic (recessive)" "" "0000948802" "0" "30" "7" "116340086" "116340086" "subst" "0.00161307" "01804" "MET_000124" "g.116340086A>G" "" "" "" "MET(NM_000245.2):c.948A>G (p.(Ile316Met)), MET(NM_001127500.3):c.948A>G (p.I316M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948803" "0" "50" "7" "116398608" "116398608" "subst" "7.7264E-5" "02329" "MET_000277" "g.116398608C>T" "" "" "" "MET(NM_001127500.3):c.2198C>T (p.T733I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948804" "0" "30" "7" "116409692" "116409692" "del" "0.0015537" "02329" "MET_000293" "g.116409692del" "" "" "" "MET(NM_000245.2):c.2584-7del (p.(=)), MET(NM_001127500.3):c.2638-7delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000953636" "0" "90" "7" "116411888" "116411910" "del" "0" "03779" "MET_000367" "g.116411888_116411910del" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000959794" "0" "90" "7" "116411873" "116411877" "delins" "0" "03779" "MET_000368" "g.116411873_116411877delinsTG" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000964383" "0" "10" "7" "116409690" "116409690" "del" "0" "02329" "MET_000159" "g.116409690del" "" "" "" "MET(NM_001127500.1):c.2638-9delT, MET(NM_001127500.3):c.2638-9delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000964384" "0" "30" "7" "116409692" "116409692" "del" "0.0015537" "01804" "MET_000293" "g.116409692del" "" "" "" "MET(NM_000245.2):c.2584-7del (p.(=)), MET(NM_001127500.3):c.2638-7delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000971573" "0" "90" "7" "116411879" "116411901" "del" "0" "03779" "MET_000369" "g.116411879_116411901del" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000971576" "0" "90" "7" "116412045" "116412045" "subst" "0" "03779" "MET_000370" "g.116412045T>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs1794851763" "0" "" "" "" "" "pathogenic" "" "0000971577" "0" "90" "7" "116412045" "116412045" "subst" "0" "03779" "MET_000370" "g.116412045T>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs1794851763" "0" "" "" "" "" "pathogenic" "" "0000972074" "0" "90" "7" "116411883" "116411894" "del" "0" "03779" "MET_000371" "g.116411883_116411894del" "" "" "" "" "" "CLASSIFICATION record" "" "rs2116995361" "0" "" "" "" "" "pathogenic" "" "0000987559" "0" "90" "7" "116412044" "116412044" "subst" "0" "03779" "MET_000372" "g.116412044G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs869320707" "0" "" "" "" "" "pathogenic" "" "0000989085" "0" "90" "7" "116411894" "116411894" "delins" "0" "03779" "MET_000373" "g.116411894delinsAAAA" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000996140" "0" "50" "7" "116395440" "116395440" "subst" "0" "02329" "MET_000374" "g.116395440G>C" "" "" "" "MET(NM_001127500.3):c.1733G>C (p.G578A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996141" "0" "50" "7" "116418844" "116418844" "subst" "0" "02327" "MET_000362" "g.116418844G>A" "" "" "" "MET(NM_001127500.1):c.3409G>A (p.G1137R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001008408" "0" "90" "7" "116411890" "116411908" "delins" "0" "03779" "MET_000375" "g.116411890_116411908delinsACTGCCCA" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0001008598" "0" "90" "7" "116412046" "116412046" "subst" "0" "03779" "MET_000376" "g.116412046A>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs2116998142" "0" "" "" "" "" "pathogenic" "" "0001011162" "0" "90" "7" "116412045" "116412045" "subst" "0" "03779" "MET_000378" "g.116412045T>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs1794851763" "0" "" "" "" "" "pathogenic" "" "0001011163" "0" "90" "7" "116412043" "116412052" "del" "0" "03779" "MET_000377" "g.116412043_116412052del" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0001014261" "0" "30" "7" "116339248" "116339248" "subst" "0.0010364" "02327" "MET_000190" "g.116339248T>C" "" "" "" "MET(NM_001127500.1):c.110T>C (p.V37A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014262" "0" "30" "7" "116380962" "116380962" "subst" "6.0932E-5" "02329" "MET_000379" "g.116380962A>G" "" "" "" "MET(NM_001127500.3):c.1584A>G (p.Q528=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001017634" "0" "90" "7" "116411885" "116411893" "del" "0" "03779" "MET_000380" "g.116411885_116411893del" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0001018800" "0" "90" "7" "116411885" "116411902" "delins" "0" "03779" "MET_000381" "g.116411885_116411902delinsGCCCA" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0001025300" "0" "50" "7" "116340027" "116340027" "subst" "0" "02329" "MET_000382" "g.116340027G>C" "" "" "" "MET(NM_001127500.3):c.889G>C (p.E297Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025301" "0" "30" "7" "116397669" "116397669" "subst" "0.000101698" "02329" "MET_000383" "g.116397669T>C" "" "" "" "MET(NM_001127500.3):c.1966-23T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025302" "0" "50" "7" "116398520" "116398520" "subst" "1.62705E-5" "02329" "MET_000276" "g.116398520A>G" "" "" "" "MET(NM_001127500.3):c.2110A>G (p.N704D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001029862" "0" "90" "7" "116412043" "116412043" "subst" "0" "00006" "MET_000384" "g.116412043G>A" "" "{PMID:Kim 2022:36082279}" "" "" "variant identified in 10% of 533 cases; effect on splicing mentioned but not specified" "Somatic" "" "" "0" "" "" "g.116771989G>A" "" "likely pathogenic (!)" "" "0001030322" "0" "50" "7" "116403210" "116403210" "subst" "8.13584E-6" "03779" "MET_000385" "g.116403210A>G" "" "" "" "" "" "Unknown" "" "rs1446482547" "0" "" "" "" "" "VUS" "" "0001036075" "0" "10" "7" "116312439" "116312439" "subst" "0" "02327" "MET_000386" "g.116312439C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001036076" "0" "50" "7" "116339749" "116339751" "del" "0" "01804" "MET_000387" "g.116339749_116339751del" "" "" "" "MET(NM_000245.4):c.611_613del (p.(Ser204del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036077" "0" "50" "7" "116340076" "116340076" "subst" "0" "01804" "MET_000388" "g.116340076T>C" "" "" "" "MET(NM_000245.4):c.938T>C (p.(Val313Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036078" "0" "30" "7" "116397675" "116397675" "subst" "0.000272482" "02329" "MET_000389" "g.116397675T>C" "" "" "" "MET(NM_001127500.3):c.1966-17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036079" "0" "30" "7" "116409676" "116409676" "subst" "0" "02329" "MET_000390" "g.116409676T>A" "" "" "" "MET(NM_001127500.3):c.2638-23T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036080" "0" "30" "7" "116411923" "116411923" "subst" "0.00288357" "01804" "MET_000164" "g.116411923C>T" "" "" "" "MET(NM_000245.4):c.2908C>T (p.(Arg970Cys)), MET(NM_001127500.1):c.2962C>T (p.R988C), MET(NM_001127500.3):c.2962C>T (p.R988C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036081" "0" "50" "7" "116411974" "116411974" "subst" "0" "01804" "MET_000391" "g.116411974C>T" "" "" "" "MET(NM_000245.4):c.2959C>T (p.(Arg987Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036082" "0" "10" "7" "116411990" "116411990" "subst" "0.00797126" "01804" "MET_000133" "g.116411990C>T" "" "" "" "MET(NM_000245.4):c.2975C>T (p.(Thr992Ile)), MET(NM_001127500.1):c.3029C>T (p.T1010I), MET(NM_001127500.3):c.3029C>T (p.T1010I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001036083" "0" "30" "7" "116417531" "116417531" "subst" "2.033E-5" "02327" "MET_000392" "g.116417531G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045012" "0" "50" "7" "116339605" "116339605" "subst" "0.000204227" "03779" "MET_000207" "g.116339605C>T" "" "" "" "" "" "Unknown" "" "rs56311081" "0" "" "" "" "" "VUS" "" "0001045353" "0" "90" "7" "116412040" "116412047" "del" "0" "03779" "MET_000393" "g.116412040_116412047del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0001046092" "0" "30" "7" "116379998" "116379998" "subst" "4.46806E-5" "02327" "MET_000157" "g.116379998G>A" "" "" "" "MET(NM_001127500.1):c.1393-6G>A, MET(NM_001127500.3):c.1393-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046898" "0" "90" "7" "116411890" "116411891" "ins" "0" "03779" "MET_000394" "g.116411890_116411891insAAAAA" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0001047080" "0" "10" "7" "116411441" "116411441" "subst" "0" "03779" "MET_000355" "g.116411441T>C" "" "" "" "" "" "Unknown" "" "rs77398083" "0" "" "" "" "" "benign" "" "0001047192" "0" "30" "7" "116436265" "116436265" "subst" "0" "03779" "MET_000396" "g.116436265G>A" "" "" "" "" "" "Unknown" "" "rs41281081" "0" "" "" "" "" "likely benign" "" "0001047240" "0" "30" "7" "116423646" "116423646" "subst" "0" "03779" "MET_000395" "g.116423646T>C" "" "" "" "" "" "Unknown" "" "rs528806881" "0" "" "" "" "" "likely benign" "" "0001047573" "0" "90" "7" "116412029" "116412044" "del" "0" "03779" "MET_000397" "g.116412029_116412044del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0001048137" "0" "50" "7" "116339605" "116339605" "subst" "0.000204227" "03779" "MET_000207" "g.116339605C>T" "" "" "" "" "" "Unknown" "" "rs56311081" "0" "" "" "" "" "VUS" "" "0001048149" "0" "30" "7" "116339605" "116339605" "subst" "0.000204227" "03779" "MET_000207" "g.116339605C>T" "" "" "" "" "" "Unknown" "" "rs56311081" "0" "" "" "" "" "likely benign" "" "0001048796" "0" "30" "7" "116422122" "116422122" "subst" "4.07993E-6" "03779" "MET_000399" "g.116422122C>T" "" "" "" "" "" "Unknown" "" "rs1484737027" "0" "" "" "" "" "likely benign" "" "0001048989" "0" "10" "7" "116339528" "116339528" "subst" "0.00159071" "03779" "MET_000168" "g.116339528C>T" "" "" "" "" "" "Unknown" "" "rs150588908" "0" "" "" "" "" "benign" "" "0001048990" "0" "30" "7" "116340223" "116340223" "subst" "0.00163776" "03779" "MET_000174" "g.116340223T>C" "" "" "" "" "" "Unknown" "" "rs77523018" "0" "" "" "" "" "likely benign" "" "0001049020" "0" "30" "7" "116418966" "116418966" "subst" "2.84803E-5" "03779" "MET_000316" "g.116418966C>T" "" "" "" "" "" "Unknown" "" "rs372238373" "0" "" "" "" "" "likely benign" "" "0001049120" "0" "10" "7" "116411818" "116411818" "subst" "0" "03779" "MET_000131" "g.116411818C>T" "" "" "" "" "" "Unknown" "" "rs35307741" "0" "" "" "" "" "benign" "" "0001049121" "0" "30" "7" "116411990" "116411990" "subst" "0.00797126" "03779" "MET_000133" "g.116411990C>T" "" "" "" "" "" "Unknown" "" "rs56391007" "0" "" "" "" "" "likely benign" "" "0001049126" "0" "30" "7" "116380775" "116380775" "subst" "0" "03779" "MET_000398" "g.116380775G>T" "" "" "" "" "" "Unknown" "" "rs924856510" "0" "" "" "" "" "likely benign" "" ## 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 MET ## Count = 571 "{{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}}" "0000063306" "00023884" "10" "2264" "89" "2264" "89" "c.2264+89C>T" "r.(=)" "p.(=)" "" "0000063307" "00023884" "10" "2941" "70" "2941" "70" "c.2941+70G>A" "r.(=)" "p.(=)" "" "0000063308" "00023884" "10" "1702" "-152" "1702" "-152" "c.1702-152C>T" "r.(=)" "p.(=)" "" "0000063309" "00023884" "10" "3577" "-75" "3577" "-75" "c.3577-75T>C" "r.(=)" "p.(=)" "" "0000063310" "00023884" "10" "4071" "0" "4071" "0" "c.4071G>A" "r.(?)" "p.(=)" "" "0000063311" "00023884" "10" "4146" "0" "4146" "0" "c.4146G>A" "r.(=)" "p.(=)" "" "0000063312" "00023884" "10" "6467" "0" "6467" "0" "c.*2240G>A" "r.(=)" "p.(=)" "" "0000063313" "00023884" "10" "3912" "0" "3912" "0" "c.3912C>T" "r.(=)" "p.(=)" "" "0000170328" "00023884" "90" "1250" "0" "1250" "0" "c.1250G>A" "r.(?)" "p.(Arg417Gln)" "3" "0000246569" "00025889" "10" "1124" "0" "1124" "0" "c.1124A>G" "r.(?)" "p.(Asn375Ser)" "" "0000246569" "00023884" "10" "1124" "0" "1124" "0" "c.1124A>G" "r.(?)" "p.(Asn375Ser)" "" "0000246578" "00025889" "10" "1944" "0" "1944" "0" "c.1944A>G" "r.(?)" "p.(Gln648=)" "" "0000246578" "00023884" "10" "1944" "0" "1944" "0" "c.1944A>G" "r.(?)" "p.(Gln648=)" "" "0000250077" "00025889" "10" "1124" "0" "1124" "0" "c.1124A>G" "r.(?)" "p.(Asn375Ser)" "" "0000250077" "00023884" "10" "1124" "0" "1124" "0" "c.1124A>G" "r.(?)" "p.(Asn375Ser)" "" "0000250143" "00025889" "10" "948" "0" "948" "0" "c.948A>G" "r.(?)" "p.(Ile316Met)" "" "0000250143" "00023884" "10" "948" "0" "948" "0" "c.948A>G" "r.(?)" "p.(Ile316Met)" "" "0000252502" "00025889" "90" "3281" "0" "3281" "0" "c.3281A>G" "r.(?)" "p.(His1094Arg)" "" "0000252502" "00023884" "90" "3335" "0" "3335" "0" "c.3335A>G" "r.(?)" "p.(His1112Arg)" "" "0000252591" "00025889" "90" "3689" "0" "3689" "0" "c.3689A>G" "r.(?)" "p.(Tyr1230Cys)" "" "0000252591" "00023884" "90" "3743" "0" "3743" "0" "c.3743A>G" "r.(?)" "p.(Tyr1248Cys)" "" "0000252769" "00025889" "50" "3706" "0" "3706" "0" "c.3706A>C" "r.(?)" "p.(Ser1236Arg)" "" "0000252769" "00023884" "50" "3760" "0" "3760" "0" "c.3760A>C" "r.(?)" "p.(Ser1254Arg)" "" "0000256573" "00025889" "50" "2929" "0" "2929" "0" "c.2929A>G" "r.(?)" "p.(Thr977Ala)" "" "0000256573" "00023884" "50" "2983" "0" "2983" "0" "c.2983A>G" "r.(?)" "p.(Thr995Ala)" "" "0000279673" "00025889" "10" "1131" "0" "1131" "0" "c.1131C>T" "r.(?)" "p.(Ile377=)" "" "0000279673" "00023884" "10" "1131" "0" "1131" "0" "c.1131C>T" "r.(?)" "p.(Ile377=)" "" "0000279674" "00025889" "10" "1393" "-6" "1393" "-6" "c.1393-6G>A" "r.(=)" "p.(=)" "" "0000279674" "00023884" "10" "1393" "-6" "1393" "-6" "c.1393-6G>A" "r.(=)" "p.(=)" "" "0000279675" "00025889" "10" "144" "0" "144" "0" "c.144G>A" "r.(?)" "p.(Ala48=)" "" "0000279675" "00023884" "10" "144" "0" "144" "0" "c.144G>A" "r.(?)" "p.(Ala48=)" "" "0000279676" "00025889" "30" "2103" "-4" "2103" "-4" "c.2103-4T>C" "r.spl?" "p.?" "" "0000279676" "00023884" "30" "2103" "-4" "2103" "-4" "c.2103-4T>C" "r.spl?" "p.?" "" "0000279677" "00025889" "30" "2975" "0" "2975" "0" "c.2975C>T" "r.(?)" "p.(Thr992Ile)" "" "0000279677" "00023884" "30" "3029" "0" "3029" "0" "c.3029C>T" "r.(?)" "p.(Thr1010Ile)" "" "0000279678" "00025889" "10" "3523" "-12" "3523" "-12" "c.3523-12C>G" "r.(=)" "p.(=)" "" "0000279678" "00023884" "10" "3577" "-12" "3577" "-12" "c.3577-12C>G" "r.(=)" "p.(=)" "" "0000279679" "00025889" "10" "3858" "0" "3858" "0" "c.3858C>T" "r.(?)" "p.(Asp1286=)" "" "0000279679" "00023884" "10" "3912" "0" "3912" "0" "c.3912C>T" "r.(?)" "p.(Asp1304=)" "" "0000279680" "00025889" "30" "3936" "-13" "3936" "-10" "c.3936-13_3936-10del" "r.(=)" "p.(=)" "" "0000279680" "00023884" "30" "3990" "-13" "3990" "-10" "c.3990-13_3990-10del" "r.(=)" "p.(=)" "" "0000279681" "00025889" "10" "4017" "0" "4017" "0" "c.4017G>A" "r.(?)" "p.(Ala1339=)" "" "0000279681" "00023884" "10" "4071" "0" "4071" "0" "c.4071G>A" "r.(?)" "p.(Ala1357=)" "" "0000279682" "00025889" "10" "4092" "0" "4092" "0" "c.4092G>A" "r.(?)" "p.(Pro1364=)" "" "0000279682" "00023884" "10" "4146" "0" "4146" "0" "c.4146G>A" "r.(?)" "p.(Pro1382=)" "" "0000279683" "00025889" "30" "4122" "0" "4122" "0" "c.4122C>T" "r.(?)" "p.(Asn1374=)" "" "0000279683" "00023884" "30" "4176" "0" "4176" "0" "c.4176C>T" "r.(?)" "p.(Asn1392=)" "" "0000279684" "00025889" "10" "534" "0" "534" "0" "c.534C>T" "r.(?)" "p.(Ser178=)" "" "0000279684" "00023884" "10" "534" "0" "534" "0" "c.534C>T" "r.(?)" "p.(Ser178=)" "" "0000282483" "00025889" "10" "2584" "-9" "2584" "-9" "c.2584-9del" "r.(=)" "p.(=)" "" "0000282483" "00023884" "10" "2638" "-9" "2638" "-9" "c.2638-9del" "r.(=)" "p.(=)" "" "0000282484" "00025889" "30" "2908" "0" "2908" "0" "c.2908C>T" "r.(?)" "p.(Arg970Cys)" "" "0000282484" "00023884" "30" "2962" "0" "2962" "0" "c.2962C>T" "r.(?)" "p.(Arg988Cys)" "" "0000282485" "00025889" "30" "2975" "0" "2975" "0" "c.2975C>T" "r.(?)" "p.(Thr992Ile)" "" "0000282485" "00023884" "30" "3029" "0" "3029" "0" "c.3029C>T" "r.(?)" "p.(Thr1010Ile)" "" "0000282486" "00025889" "10" "3858" "0" "3858" "0" "c.3858C>T" "r.(?)" "p.(Asp1286=)" "" "0000282486" "00023884" "10" "3912" "0" "3912" "0" "c.3912C>T" "r.(?)" "p.(Asp1304=)" "" "0000282487" "00025889" "10" "4017" "0" "4017" "0" "c.4017G>A" "r.(?)" "p.(Ala1339=)" "" "0000282487" "00023884" "10" "4071" "0" "4071" "0" "c.4071G>A" "r.(?)" "p.(Ala1357=)" "" "0000282488" "00025889" "10" "4092" "0" "4092" "0" "c.4092G>A" "r.(?)" "p.(Pro1364=)" "" "0000282488" "00023884" "10" "4146" "0" "4146" "0" "c.4146G>A" "r.(?)" "p.(Pro1382=)" "" "0000283665" "00025889" "50" "1285" "0" "1285" "0" "c.1285T>A" "r.(?)" "p.(Leu429Ile)" "" "0000283665" "00023884" "50" "1285" "0" "1285" "0" "c.1285T>A" "r.(?)" "p.(Leu429Ile)" "" "0000283666" "00025889" "30" "2318" "0" "2318" "0" "c.2318C>T" "r.(?)" "p.(Pro773Leu)" "" "0000283666" "00023884" "30" "2372" "0" "2372" "0" "c.2372C>T" "r.(?)" "p.(Pro791Leu)" "" "0000283667" "00025889" "30" "2584" "-7" "2584" "-7" "c.2584-7C>T" "r.(=)" "p.(=)" "" "0000283667" "00023884" "30" "2638" "-7" "2638" "-7" "c.2638-7C>T" "r.(=)" "p.(=)" "" "0000283668" "00025889" "30" "2908" "0" "2908" "0" "c.2908C>T" "r.(?)" "p.(Arg970Cys)" "" "0000283668" "00023884" "30" "2962" "0" "2962" "0" "c.2962C>T" "r.(?)" "p.(Arg988Cys)" "" "0000283669" "00025889" "10" "2975" "0" "2975" "0" "c.2975C>T" "r.(?)" "p.(Thr992Ile)" "" "0000283669" "00023884" "10" "3029" "0" "3029" "0" "c.3029C>T" "r.(?)" "p.(Thr1010Ile)" "" "0000283670" "00025889" "30" "3522" "12" "3522" "12" "c.3522+12G>T" "r.(=)" "p.(=)" "" "0000283670" "00023884" "30" "3576" "12" "3576" "12" "c.3576+12G>T" "r.(=)" "p.(=)" "" "0000283671" "00025889" "30" "3523" "-12" "3523" "-12" "c.3523-12C>G" "r.(=)" "p.(=)" "" "0000283671" "00023884" "30" "3577" "-12" "3577" "-12" "c.3577-12C>G" "r.(=)" "p.(=)" "" "0000283672" "00025889" "90" "3658" "0" "3658" "0" "c.3658G>A" "r.(?)" "p.(Val1220Ile)" "" "0000283672" "00023884" "90" "3712" "0" "3712" "0" "c.3712G>A" "r.(?)" "p.(Val1238Ile)" "" "0000283673" "00025889" "30" "3936" "-13" "3936" "-10" "c.3936-13_3936-10del" "r.(=)" "p.(=)" "" "0000283673" "00023884" "30" "3990" "-13" "3990" "-10" "c.3990-13_3990-10del" "r.(=)" "p.(=)" "" "0000283674" "00025889" "30" "4087" "0" "4087" "0" "c.4087G>A" "r.(?)" "p.(Ala1363Thr)" "" "0000283674" "00023884" "30" "4141" "0" "4141" "0" "c.4141G>A" "r.(?)" "p.(Ala1381Thr)" "" "0000283675" "00025889" "10" "504" "0" "504" "0" "c.504G>T" "r.(?)" "p.(Glu168Asp)" "" "0000283675" "00023884" "10" "504" "0" "504" "0" "c.504G>T" "r.(?)" "p.(Glu168Asp)" "" "0000286546" "00025889" "10" "144" "0" "144" "0" "c.144G>A" "r.(?)" "p.(Ala48=)" "" "0000286546" "00023884" "10" "144" "0" "144" "0" "c.144G>A" "r.(?)" "p.(Ala48=)" "" "0000286547" "00025889" "10" "1701" "58" "1701" "58" "c.1701+58del" "r.(=)" "p.(=)" "" "0000286547" "00023884" "10" "1701" "58" "1701" "58" "c.1701+58del" "r.(=)" "p.(=)" "" "0000286548" "00025889" "10" "2584" "-9" "2584" "-9" "c.2584-9dup" "r.(=)" "p.(=)" "" "0000286548" "00023884" "10" "2638" "-9" "2638" "-9" "c.2638-9dup" "r.(=)" "p.(=)" "" "0000286549" "00025889" "10" "2584" "-9" "2584" "-9" "c.2584-9del" "r.(=)" "p.(=)" "" "0000286549" "00023884" "10" "2638" "-9" "2638" "-9" "c.2638-9del" "r.(=)" "p.(=)" "" "0000286550" "00025889" "10" "2730" "105" "2730" "105" "c.2730+105T>C" "r.(=)" "p.(=)" "" "0000286550" "00023884" "10" "2784" "105" "2784" "105" "c.2784+105T>C" "r.(=)" "p.(=)" "" "0000286551" "00025889" "10" "2888" "-85" "2888" "-85" "c.2888-85C>T" "r.(=)" "p.(=)" "" "0000286551" "00023884" "10" "2942" "-85" "2942" "-85" "c.2942-85C>T" "r.(=)" "p.(=)" "" "0000286552" "00025889" "30" "2908" "0" "2908" "0" "c.2908C>T" "r.(?)" "p.(Arg970Cys)" "" "0000286552" "00023884" "30" "2962" "0" "2962" "0" "c.2962C>T" "r.(?)" "p.(Arg988Cys)" "" "0000286553" "00025889" "10" "2975" "0" "2975" "0" "c.2975C>T" "r.(?)" "p.(Thr992Ile)" "" "0000286553" "00023884" "10" "3029" "0" "3029" "0" "c.3029C>T" "r.(?)" "p.(Thr1010Ile)" "" "0000286554" "00025889" "90" "3274" "0" "3274" "0" "c.3274G>A" "r.(?)" "p.(Val1092Ile)" "" "0000286554" "00023884" "90" "3328" "0" "3328" "0" "c.3328G>A" "r.(?)" "p.(Val1110Ile)" "" "0000286555" "00025889" "90" "3280" "0" "3280" "0" "c.3280C>T" "r.(?)" "p.(His1094Tyr)" "" "0000286555" "00023884" "90" "3334" "0" "3334" "0" "c.3334C>T" "r.(?)" "p.(His1112Tyr)" "" "0000286556" "00025889" "90" "3392" "0" "3392" "0" "c.3392T>C" "r.(?)" "p.(Met1131Thr)" "" "0000286556" "00023884" "90" "3446" "0" "3446" "0" "c.3446T>C" "r.(?)" "p.(Met1149Thr)" "" "0000286557" "00025889" "10" "3523" "-75" "3523" "-75" "c.3523-75T>C" "r.(=)" "p.(=)" "" "0000286557" "00023884" "10" "3577" "-75" "3577" "-75" "c.3577-75T>C" "r.(=)" "p.(=)" "" "0000286558" "00025889" "90" "3562" "0" "3562" "0" "c.3562G>T" "r.(?)" "p.(Val1188Leu)" "" "0000286558" "00023884" "90" "3616" "0" "3616" "0" "c.3616G>T" "r.(?)" "p.(Val1206Leu)" "" "0000286559" "00025889" "90" "3658" "0" "3658" "0" "c.3658G>A" "r.(?)" "p.(Val1220Ile)" "" "0000286559" "00023884" "90" "3712" "0" "3712" "0" "c.3712G>A" "r.(?)" "p.(Val1238Ile)" "" "0000286560" "00025889" "90" "3682" "0" "3682" "0" "c.3682G>A" "r.(?)" "p.(Asp1228Asn)" "" "0000286560" "00023884" "90" "3736" "0" "3736" "0" "c.3736G>A" "r.(?)" "p.(Asp1246Asn)" "" "0000286561" "00025889" "90" "3688" "0" "3688" "0" "c.3688T>G" "r.(?)" "p.(Tyr1230Asp)" "" "0000286561" "00023884" "90" "3742" "0" "3742" "0" "c.3742T>G" "r.(?)" "p.(Tyr1248Asp)" "" "0000286562" "00025889" "90" "3749" "0" "3749" "0" "c.3749T>C" "r.(?)" "p.(Met1250Thr)" "" "0000286562" "00023884" "90" "3803" "0" "3803" "0" "c.3803T>C" "r.(?)" "p.(Met1268Thr)" "" "0000286563" "00025889" "10" "3858" "0" "3858" "0" "c.3858C>T" "r.(?)" "p.(Asp1286=)" "" "0000286563" "00023884" "10" "3912" "0" "3912" "0" "c.3912C>T" "r.(?)" "p.(Asp1304=)" "" "0000286564" "00025889" "10" "4017" "0" "4017" "0" "c.4017G>A" "r.(?)" "p.(Ala1339=)" "" "0000286564" "00023884" "10" "4071" "0" "4071" "0" "c.4071G>A" "r.(?)" "p.(Ala1357=)" "" "0000286565" "00025889" "10" "4092" "0" "4092" "0" "c.4092G>A" "r.(?)" "p.(Pro1364=)" "" "0000286565" "00023884" "10" "4146" "0" "4146" "0" "c.4146G>A" "r.(?)" "p.(Pro1382=)" "" "0000286566" "00025889" "10" "534" "0" "534" "0" "c.534C>T" "r.(?)" "p.(Ser178=)" "" "0000286566" "00023884" "10" "534" "0" "534" "0" "c.534C>T" "r.(?)" "p.(Ser178=)" "" "0000291748" "00025889" "30" "1393" "-6" "1393" "-6" "c.1393-6G>A" "r.(=)" "p.(=)" "" "0000291748" "00023884" "30" "1393" "-6" "1393" "-6" "c.1393-6G>A" "r.(=)" "p.(=)" "" "0000291751" "00025889" "30" "2825" "0" "2825" "0" "c.2825C>T" "r.(?)" "p.(Ser942Leu)" "" "0000291751" "00023884" "30" "2879" "0" "2879" "0" "c.2879C>T" "r.(?)" "p.(Ser960Leu)" "" "0000291752" "00025889" "30" "3443" "0" "3443" "0" "c.3443G>T" "r.(?)" "p.(Arg1148Leu)" "" "0000291752" "00023884" "30" "3497" "0" "3497" "0" "c.3497G>T" "r.(?)" "p.(Arg1166Leu)" "" "0000291753" "00025889" "30" "504" "0" "504" "0" "c.504G>T" "r.(?)" "p.(Glu168Asp)" "" "0000291753" "00023884" "30" "504" "0" "504" "0" "c.504G>T" "r.(?)" "p.(Glu168Asp)" "" "0000291754" "00025889" "50" "883" "0" "883" "0" "c.883C>T" "r.(?)" "p.(Pro295Ser)" "" "0000291754" "00023884" "50" "883" "0" "883" "0" "c.883C>T" "r.(?)" "p.(Pro295Ser)" "" "0000339309" "00025889" "10" "144" "0" "144" "0" "c.144G>A" "r.(?)" "p.(Ala48=)" "" "0000339309" "00023884" "10" "144" "0" "144" "0" "c.144G>A" "r.(?)" "p.(Ala48=)" "" "0000339310" "00025889" "10" "534" "0" "534" "0" "c.534C>T" "r.(?)" "p.(Ser178=)" "" "0000339310" "00023884" "10" "534" "0" "534" "0" "c.534C>T" "r.(?)" "p.(Ser178=)" "" "0000339311" "00025889" "10" "1944" "0" "1944" "0" "c.1944A>G" "r.(?)" "p.(Gln648=)" "" "0000339311" "00023884" "10" "1944" "0" "1944" "0" "c.1944A>G" "r.(?)" "p.(Gln648=)" "" "0000339312" "00025889" "10" "3858" "0" "3858" "0" "c.3858C>T" "r.(?)" "p.(Asp1286=)" "" "0000339312" "00023884" "10" "3912" "0" "3912" "0" "c.3912C>T" "r.(?)" "p.(Asp1304=)" "" "0000339313" "00025889" "30" "3864" "0" "3864" "0" "c.3864C>T" "r.(?)" "p.(Asn1288=)" "" "0000339313" "00023884" "30" "3918" "0" "3918" "0" "c.3918C>T" "r.(?)" "p.(Asn1306=)" "" "0000339314" "00025889" "10" "4017" "0" "4017" "0" "c.4017G>A" "r.(?)" "p.(Ala1339=)" "" "0000339314" "00023884" "10" "4071" "0" "4071" "0" "c.4071G>A" "r.(?)" "p.(Ala1357=)" "" "0000339315" "00025889" "10" "4092" "0" "4092" "0" "c.4092G>A" "r.(?)" "p.(Pro1364=)" "" "0000339315" "00023884" "10" "4146" "0" "4146" "0" "c.4146G>A" "r.(?)" "p.(Pro1382=)" "" "0000343734" "00025889" "10" "1124" "0" "1124" "0" "c.1124A>G" "r.(?)" "p.(Asn375Ser)" "" "0000343734" "00023884" "10" "1124" "0" "1124" "0" "c.1124A>G" "r.(?)" "p.(Asn375Ser)" "" "0000346047" "00025889" "50" "1171" "0" "1171" "0" "c.1171G>A" "r.(?)" "p.(Gly391Arg)" "" "0000346047" "00023884" "50" "1171" "0" "1171" "0" "c.1171G>A" "r.(?)" "p.(Gly391Arg)" "" "0000347389" "00025889" "50" "3776" "0" "3776" "0" "c.3776A>G" "r.(?)" "p.(Lys1259Arg)" "" "0000347389" "00023884" "50" "3830" "0" "3830" "0" "c.3830A>G" "r.(?)" "p.(Lys1277Arg)" "" "0000349429" "00025889" "30" "901" "0" "901" "0" "c.901A>G" "r.(?)" "p.(Thr301Ala)" "" "0000349429" "00023884" "30" "901" "0" "901" "0" "c.901A>G" "r.(?)" "p.(Thr301Ala)" "" "0000530448" "00025889" "10" "-14" "-4" "-14" "-4" "c.-14-4G>A" "r.spl?" "p.?" "" "0000530448" "00023884" "10" "-14" "-4" "-14" "-4" "c.-14-4G>A" "r.spl?" "p.?" "" "0000530449" "00025889" "30" "36" "0" "36" "0" "c.36C>T" "r.(?)" "p.(Leu12=)" "" "0000530449" "00023884" "30" "36" "0" "36" "0" "c.36C>T" "r.(?)" "p.(Leu12=)" "" "0000530451" "00025889" "10" "390" "0" "390" "0" "c.390C>T" "r.(?)" "p.(Leu130=)" "" "0000530451" "00023884" "10" "390" "0" "390" "0" "c.390C>T" "r.(?)" "p.(Leu130=)" "" "0000530452" "00025889" "30" "504" "0" "504" "0" "c.504G>T" "r.(?)" "p.(Glu168Asp)" "" "0000530452" "00023884" "30" "504" "0" "504" "0" "c.504G>T" "r.(?)" "p.(Glu168Asp)" "" "0000530453" "00025889" "30" "607" "0" "607" "0" "c.607T>A" "r.(?)" "p.(Ser203Thr)" "" "0000530453" "00023884" "30" "607" "0" "607" "0" "c.607T>A" "r.(?)" "p.(Ser203Thr)" "" "0000530454" "00025889" "30" "607" "0" "607" "0" "c.607T>A" "r.(?)" "p.(Ser203Thr)" "" "0000530454" "00023884" "30" "607" "0" "607" "0" "c.607T>A" "r.(?)" "p.(Ser203Thr)" "" "0000530455" "00025889" "50" "665" "0" "665" "0" "c.665C>T" "r.(?)" "p.(Thr222Met)" "" "0000530455" "00023884" "50" "665" "0" "665" "0" "c.665C>T" "r.(?)" "p.(Thr222Met)" "" "0000530456" "00025889" "30" "798" "0" "798" "0" "c.798G>A" "r.(?)" "p.(Arg266=)" "" "0000530456" "00023884" "30" "798" "0" "798" "0" "c.798G>A" "r.(?)" "p.(Arg266=)" "" "0000530457" "00025889" "30" "798" "0" "798" "0" "c.798G>A" "r.(?)" "p.(Arg266=)" "" "0000530457" "00023884" "30" "798" "0" "798" "0" "c.798G>A" "r.(?)" "p.(Arg266=)" "" "0000530458" "00025889" "30" "833" "0" "833" "0" "c.833T>A" "r.(?)" "p.(Ile278Lys)" "" "0000530458" "00023884" "30" "833" "0" "833" "0" "c.833T>A" "r.(?)" "p.(Ile278Lys)" "" "0000530459" "00025889" "50" "901" "0" "901" "0" "c.901A>G" "r.(?)" "p.(Thr301Ala)" "" "0000530459" "00023884" "50" "901" "0" "901" "0" "c.901A>G" "r.(?)" "p.(Thr301Ala)" "" "0000530460" "00025889" "50" "1039" "0" "1039" "0" "c.1039G>A" "r.(?)" "p.(Ala347Thr)" "" "0000530460" "00023884" "50" "1039" "0" "1039" "0" "c.1039G>A" "r.(?)" "p.(Ala347Thr)" "" "0000530461" "00025889" "10" "1085" "0" "1085" "0" "c.1085T>C" "r.(?)" "p.(Met362Thr)" "" "0000530461" "00023884" "10" "1085" "0" "1085" "0" "c.1085T>C" "r.(?)" "p.(Met362Thr)" "" "0000530463" "00025889" "30" "1451" "0" "1451" "0" "c.1451A>G" "r.(?)" "p.(His484Arg)" "" "0000530463" "00023884" "30" "1451" "0" "1451" "0" "c.1451A>G" "r.(?)" "p.(His484Arg)" "" "0000530464" "00025889" "50" "2254" "0" "2254" "0" "c.2254T>G" "r.(?)" "p.(Ser752Ala)" "" "0000530464" "00023884" "50" "2254" "0" "2254" "0" "c.2254T>G" "r.(?)" "p.(Ser752Ala)" "" "0000530465" "00025889" "30" "2265" "-38" "2265" "-38" "c.2265-38C>T" "r.(=)" "p.(=)" "" "0000530465" "00023884" "30" "2281" "0" "2281" "0" "c.2281C>T" "r.(?)" "p.(Pro761Ser)" "" "0000530466" "00025889" "30" "2318" "0" "2318" "0" "c.2318C>T" "r.(?)" "p.(Pro773Leu)" "" "0000530466" "00023884" "30" "2372" "0" "2372" "0" "c.2372C>T" "r.(?)" "p.(Pro791Leu)" "" "0000530467" "00025889" "50" "2543" "0" "2543" "0" "c.2543T>C" "r.(?)" "p.(Val848Ala)" "" "0000530467" "00023884" "50" "2597" "0" "2597" "0" "c.2597T>C" "r.(?)" "p.(Val866Ala)" "" "0000530469" "00025889" "30" "2584" "-8" "2584" "-7" "c.2584-8_2584-7del" "r.(=)" "p.(=)" "" "0000530469" "00023884" "30" "2638" "-8" "2638" "-7" "c.2638-8_2638-7del" "r.(=)" "p.(=)" "" "0000530472" "00025889" "30" "2584" "-6" "2584" "-4" "c.2584-6_2584-4dup" "r.spl?" "p.?" "" "0000530472" "00023884" "30" "2638" "-6" "2638" "-4" "c.2638-6_2638-4dup" "r.spl?" "p.?" "" "0000530473" "00025889" "30" "2584" "-4" "2584" "-3" "c.2584-4_2584-3insTTTTT" "r.spl?" "p.?" "" "0000530473" "00023884" "30" "2638" "-4" "2638" "-3" "c.2638-4_2638-3insTTTTT" "r.spl?" "p.?" "" "0000530475" "00025889" "30" "2584" "-4" "2584" "-3" "c.2584-4_2584-3insTTTTTT" "r.spl?" "p.?" "" "0000530475" "00023884" "30" "2638" "-4" "2638" "-3" "c.2638-4_2638-3insTTTTTT" "r.spl?" "p.?" "" "0000530477" "00025889" "30" "2765" "0" "2765" "0" "c.2765A>G" "r.(?)" "p.(Lys922Arg)" "" "0000530477" "00023884" "30" "2819" "0" "2819" "0" "c.2819A>G" "r.(?)" "p.(Lys940Arg)" "" "0000530478" "00025889" "30" "2908" "0" "2908" "0" "c.2908C>T" "r.(?)" "p.(Arg970Cys)" "" "0000530478" "00023884" "30" "2962" "0" "2962" "0" "c.2962C>T" "r.(?)" "p.(Arg988Cys)" "" "0000530479" "00025889" "10" "2908" "0" "2908" "0" "c.2908C>T" "r.(?)" "p.(Arg970Cys)" "" "0000530479" "00023884" "10" "2962" "0" "2962" "0" "c.2962C>T" "r.(?)" "p.(Arg988Cys)" "" "0000530480" "00025889" "10" "2975" "0" "2975" "0" "c.2975C>T" "r.(?)" "p.(Thr992Ile)" "" "0000530480" "00023884" "10" "3029" "0" "3029" "0" "c.3029C>T" "r.(?)" "p.(Thr1010Ile)" "" "0000530481" "00025889" "50" "3236" "0" "3236" "0" "c.3236A>G" "r.(?)" "p.(His1079Arg)" "" "0000530481" "00023884" "50" "3290" "0" "3290" "0" "c.3290A>G" "r.(?)" "p.(His1097Arg)" "" "0000530482" "00025889" "50" "3236" "0" "3236" "0" "c.3236A>G" "r.(?)" "p.(His1079Arg)" "" "0000530482" "00023884" "50" "3290" "0" "3290" "0" "c.3290A>G" "r.(?)" "p.(His1097Arg)" "" "0000530483" "00025889" "50" "3496" "0" "3496" "0" "c.3496C>T" "r.(?)" "p.(Arg1166Ter)" "" "0000530483" "00023884" "50" "3550" "0" "3550" "0" "c.3550C>T" "r.(?)" "p.(Arg1184Ter)" "" "0000530484" "00025889" "30" "3549" "0" "3549" "0" "c.3549C>T" "r.(?)" "p.(Gly1183=)" "" "0000530484" "00023884" "30" "3603" "0" "3603" "0" "c.3603C>T" "r.(?)" "p.(Gly1201=)" "" "0000593702" "00023884" "50" "1046" "0" "1046" "0" "c.1046G>A" "r.(?)" "p.Ser349Asn" "" "0000595664" "00023884" "50" "1285" "0" "1285" "0" "c.1285T>A" "r.(?)" "p.(Leu429Ile)" "" "0000599065" "00023884" "10" "4071" "0" "4071" "0" "c.4071G>A" "r.(?)" "p.(Ala1357=)" "21" "0000599066" "00023884" "10" "3912" "0" "3912" "0" "c.3912C>T" "r.(?)" "p.(Asp1304=)" "20" "0000599067" "00023884" "10" "4146" "0" "4146" "0" "c.4146G>A" "r.(?)" "p.(Pro1382=)" "21" "0000610628" "00025889" "10" "1131" "0" "1131" "0" "c.1131C>T" "r.(?)" "p.(Ile377=)" "" "0000610628" "00023884" "10" "1131" "0" "1131" "0" "c.1131C>T" "r.(?)" "p.(Ile377=)" "" "0000610629" "00025889" "30" "4122" "0" "4122" "0" "c.4122C>T" "r.(?)" "p.(Asn1374=)" "" "0000610629" "00023884" "30" "4176" "0" "4176" "0" "c.4176C>T" "r.(?)" "p.(Asn1392=)" "" "0000621801" "00025889" "30" "110" "0" "110" "0" "c.110T>C" "r.(?)" "p.(Val37Ala)" "" "0000621801" "00023884" "30" "110" "0" "110" "0" "c.110T>C" "r.(?)" "p.(Val37Ala)" "" "0000621802" "00025889" "10" "1039" "0" "1039" "0" "c.1039G>A" "r.(?)" "p.(Ala347Thr)" "" "0000621802" "00023884" "10" "1039" "0" "1039" "0" "c.1039G>A" "r.(?)" "p.(Ala347Thr)" "" "0000621803" "00025889" "30" "1101" "0" "1101" "0" "c.1101C>A" "r.(?)" "p.(Ile367=)" "" "0000621803" "00023884" "30" "1101" "0" "1101" "0" "c.1101C>A" "r.(?)" "p.(Ile367=)" "" "0000640332" "00023884" "33" "-7" "0" "-7" "0" "c.-7T>C" "r.(?)" "p.(=)" "2" "0000640333" "00023884" "33" "36" "0" "36" "0" "c.36C>T" "r.(=)" "p.(=)" "2" "0000640334" "00023884" "55" "40" "0" "40" "0" "c.40C>T" "r.(?)" "p.(Leu14Phe)" "2" "0000640335" "00023884" "55" "65" "0" "65" "0" "c.65G>T" "r.(?)" "p.(Ser22Ile)" "3" "0000640336" "00023884" "55" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Gly24Glu)" "3" "0000640337" "00023884" "55" "103" "0" "103" "0" "c.103A>T" "r.(?)" "p.(Met35Leu)" "3" "0000640338" "00023884" "55" "109" "0" "109" "0" "c.109G>T" "r.(?)" "p.(Val37Leu)" "3" "0000640339" "00023884" "55" "114" "0" "114" "0" "c.114T>A" "r.(?)" "p.(Asn38Lys)" "3" "0000640340" "00023884" "33" "141" "0" "141" "0" "c.141C>T" "r.(?)" "p.(=)" "3" "0000640341" "00023884" "55" "146" "0" "146" "0" "c.146A>G" "r.(?)" "p.(Glu49Gly)" "3" "0000640342" "00023884" "55" "147" "0" "147" "0" "c.147A>G" "r.(=)" "p.(=)" "3" "0000640343" "00023884" "55" "199" "0" "199" "0" "c.199A>T" "r.(?)" "p.(Thr67Ser)" "3" "0000640344" "00023884" "55" "199" "0" "199" "0" "c.199A>G" "r.(?)" "p.(Thr67Ala)" "3" "0000640345" "00023884" "55" "289" "0" "289" "0" "c.289C>G" "r.(?)" "p.(Leu97Val)" "3" "0000640346" "00023884" "55" "406" "0" "406" "0" "c.406G>A" "r.(?)" "p.(Val136Ile)" "3" "0000640347" "00023884" "55" "465" "0" "465" "0" "c.465G>T" "r.(?)" "p.(Gln155His)" "3" "0000640348" "00023884" "33" "467" "0" "467" "0" "c.467C>T" "r.(?)" "p.(Ser156Leu)" "3" "0000640349" "00023884" "11" "468" "0" "468" "0" "c.468G>A" "r.(?)" "p.(=)" "3" "0000640350" "00023884" "55" "510" "0" "510" "0" "c.510C>G" "r.(?)" "p.(Ser170Arg)" "3" "0000640351" "00023884" "55" "522" "0" "522" "0" "c.522C>G" "r.(?)" "p.(Asp174Glu)" "3" "0000640352" "00023884" "99" "535" "0" "535" "0" "c.535G>A" "r.(?)" "p.(Ala179Thr)" "3" "0000640353" "00023884" "33" "585" "0" "585" "0" "c.585C>T" "r.(?)" "p.(=)" "3" "0000640354" "00023884" "55" "599" "0" "599" "0" "c.599C>A" "r.(?)" "p.(Thr200Asn)" "3" "0000640355" "00023884" "33" "607" "0" "607" "0" "c.607T>A" "r.(?)" "p.(Ser203Thr)" "3" "0000640356" "00023884" "55" "623" "0" "623" "0" "c.623A>G" "r.(?)" "p.(Lys208Arg)" "3" "0000640357" "00023884" "33" "632" "0" "632" "0" "c.632T>G" "r.(?)" "p.(Phe211Cys)" "3" "0000640358" "00023884" "33" "639" "0" "639" "0" "c.639G>A" "r.(?)" "p.(=)" "3" "0000640359" "00023884" "55" "640" "0" "640" "0" "c.640A>G" "r.(?)" "p.(Ile214Val)" "3" "0000640360" "00023884" "55" "665" "0" "665" "0" "c.665C>T" "r.(?)" "p.(Ser222Phe)" "3" "0000640361" "00023884" "33" "669" "0" "669" "0" "c.669A>G" "r.(?)" "p.(=)" "3" "0000640362" "00023884" "55" "670" "0" "670" "0" "c.670G>T" "r.(?)" "p.(Asp224Tyr)" "3" "0000640363" "00023884" "55" "689" "0" "689" "0" "c.689C>T" "r.(?)" "p.(Thr230Met)" "3" "0000640364" "00023884" "33" "693" "0" "693" "0" "c.693C>T" "r.(?)" "p.(=)" "3" "0000640365" "00023884" "55" "713" "0" "713" "0" "c.713T>C" "r.(?)" "p.(Leu238Pro)" "3" "0000640366" "00023884" "33" "732" "0" "732" "0" "c.732T>G" "r.(=)" "p.(=)" "3" "0000640367" "00023884" "55" "776" "0" "776" "0" "c.776T>C" "r.(?)" "p.(Ile259Thr)" "3" "0000640368" "00023884" "55" "789" "0" "789" "0" "c.789G>A" "r.(?)" "p.(=)" "3" "0000640369" "00023884" "11" "798" "0" "798" "0" "c.798G>A" "r.(?)" "p.(=)" "3" "0000640370" "00023884" "55" "818" "0" "818" "0" "c.818C>G" "r.(?)" "p.(Thr273Ser)" "3" "0000640371" "00023884" "55" "901" "0" "901" "0" "c.901A>G" "r.(?)" "p.(Thr301Ala)" "3" "0000640372" "00023884" "33" "939" "0" "939" "0" "c.939G>A" "r.(?)" "p.(Met313Ile)" "3" "0000640373" "00023884" "33" "959" "0" "959" "0" "c.959C>T" "r.(?)" "p.(Thr320Ile)" "3" "0000640374" "00023884" "33" "960" "0" "960" "0" "c.960G>A" "r.(?)" "p.(=)" "3" "0000640375" "00023884" "55" "967" "0" "967" "0" "c.967A>G" "r.(?)" "p.(Arg323Gly)" "3" "0000640376" "00023884" "55" "1019" "0" "1019" "0" "c.1019A>G" "r.(?)" "p.(Tyr340Cys)" "3" "0000640377" "00023884" "55" "1039" "0" "1039" "0" "c.1039G>A" "r.(?)" "p.(Ala347Thr)" "3" "0000640378" "00023884" "55" "1048" "0" "1048" "0" "c.1048A>C" "r.(=)" "p.(=)" "3" "0000640379" "00023884" "55" "1051" "0" "1051" "0" "c.1051C>G" "r.(?)" "p.(Gln351Glu)" "3" "0000640380" "00023884" "55" "1063" "0" "1063" "0" "c.1063G>A" "r.(?)" "p.(Glu355Lys)" "3" "0000640381" "00023884" "55" "1076" "0" "1076" "0" "c.1076G>A" "r.(?)" "p.(Arg359Gln)" "3" "0000640382" "00023884" "55" "1081" "0" "1081" "0" "c.1081G>T" "r.(?)" "p.(Ala361Ser)" "3" "0000640383" "00023884" "55" "1132" "0" "1132" "0" "c.1132G>A" "r.(?)" "p.(Val378Ile)" "3" "0000640384" "00023884" "33" "1170" "0" "1170" "0" "c.1170C>T" "r.(=)" "p.(=)" "3" "0000640385" "00023884" "55" "1171" "0" "1171" "0" "c.1171G>A" "r.(?)" "p.(Asp391Asn)" "3" "0000640386" "00023884" "55" "1180" "0" "1180" "0" "c.1180C>A" "r.(?)" "p.(His394Asn)" "3" "0000640387" "00023884" "33" "1191" "0" "1191" "0" "c.1191C>T" "r.(=)" "p.(=)" "3" "0000640388" "00023884" "55" "1232" "0" "1232" "0" "c.1232C>T" "r.(?)" "p.(Pro411Leu)" "3" "0000640389" "00023884" "33" "1233" "0" "1233" "0" "c.1233G>A" "r.(?)" "p.(=)" "3" "0000640390" "00023884" "55" "1237" "0" "1237" "0" "c.1237C>A" "r.(?)" "p.(His413Asn)" "3" "0000640391" "00023884" "33" "1263" "0" "1263" "0" "c.1263C>T" "r.(?)" "p.(=)" "4" "0000640392" "00023884" "55" "1279" "0" "1279" "0" "c.1279G>A" "r.(?)" "p.(Gly427Ser)" "4" "0000640393" "00023884" "55" "1292" "0" "1292" "0" "c.1292T>C" "r.(?)" "p.(Met431Thr)" "4" "0000640394" "00023884" "55" "1304" "0" "1304" "0" "c.1304G>A" "r.(?)" "p.(Ser435Asn)" "4" "0000640395" "00023884" "55" "1306" "0" "1306" "0" "c.1306G>C" "r.(?)" "p.(Glu436Gln)" "4" "0000640396" "00023884" "55" "1312" "0" "1312" "0" "c.1312C>G" "r.(?)" "p.(Leu438Val)" "4" "0000640397" "00023884" "55" "1345" "0" "1345" "0" "c.1345G>A" "r.(?)" "p.(Asp449Asn)" "4" "0000640398" "00023884" "55" "1361" "0" "1361" "0" "c.1361A>T" "r.(?)" "p.(Asn454Ile)" "4" "0000640399" "00023884" "55" "1392" "5" "1392" "5" "c.1392+5G>A" "r.spl?" "p.?" "4i" "0000640400" "00023884" "55" "1412" "0" "1412" "0" "c.1412G>A" "r.(?)" "p.(Gly471Glu)" "4" "0000640401" "00023884" "55" "1444" "0" "1444" "0" "c.1444G>A" "r.(?)" "p.(Asp482Asn)" "4" "0000640402" "00023884" "55" "1451" "0" "1451" "0" "c.1451A>G" "r.(?)" "p.(His484Arg)" "5" "0000640403" "00023884" "55" "1472" "0" "1472" "0" "c.1472T>C" "r.(?)" "p.(Ile491Thr)" "5" "0000640404" "00023884" "33" "1485" "0" "1485" "0" "c.1485A>G" "r.(?)" "p.(=)" "5" "0000640405" "00023884" "33" "1497" "0" "1497" "0" "c.1497T>C" "r.(?)" "p.(=)" "5" "0000640406" "00023884" "55" "1510" "0" "1510" "0" "c.1510G>T" "r.(?)" "p.(Val504Phe)" "5" "0000640407" "00023884" "33" "1626" "0" "1626" "0" "c.1626C>T" "r.(=)" "p.(=)" "6" "0000640408" "00023884" "55" "1644" "0" "1644" "0" "c.1644G>A" "r.(?)" "p.(=)" "6" "0000640409" "00023884" "33" "1659" "0" "1659" "0" "c.1659C>T" "r.(=)" "p.(=)" "6" "0000640410" "00023884" "55" "1660" "0" "1660" "0" "c.1660G>A" "r.(?)" "p.(Gly554Arg)" "6" "0000640411" "00023884" "55" "1669" "0" "1669" "0" "c.1669A>G" "r.(?)" "p.(Thr557Ala)" "6" "0000640412" "00023884" "55" "1701" "58" "1701" "59" "c.1701+58_1701+59dup" "r.spl?" "p.(=)" "6i" "0000640413" "00023884" "55" "1701" "80" "1701" "80" "c.1701+80dup" "r.spl?" "p.(=)" "6i" "0000640414" "00023884" "55" "1723" "0" "1723" "0" "c.1723C>A" "r.(?)" "p.(Leu575Ile)" "6" "0000640415" "00023884" "55" "1739" "0" "1739" "0" "c.1739G>A" "r.(?)" "p.(Cys580Tyr)" "6" "0000640416" "00023884" "55" "1770" "0" "1770" "0" "c.1770T>G" "r.(?)" "p.(Asn590Lys)" "7" "0000640417" "00023884" "55" "1771" "0" "1771" "0" "c.1771C>T" "r.(?)" "p.(Arg591Trp)" "7" "0000640418" "00023884" "55" "1810" "0" "1810" "0" "c.1810C>G" "r.(?)" "p.(Leu604Val)" "7" "0000640419" "00023884" "33" "1896" "0" "1896" "0" "c.1896G>A" "r.(?)" "p.(=)" "7" "0000640420" "00023884" "11" "1932" "0" "1932" "0" "c.1932C>T" "r.(?)" "p.(=)" "8" "0000640421" "00023884" "55" "1965" "20" "1965" "20" "c.1965+20A>G" "r.spl?" "p.(=)" "8i" "0000640422" "00023884" "55" "1972" "0" "1972" "0" "c.1972G>A" "r.(?)" "p.(Val658Ile)" "8" "0000640423" "00023884" "55" "1984" "0" "1984" "0" "c.1984A>G" "r.(?)" "p.(Ile662Val)" "8" "0000640424" "00023884" "55" "2110" "0" "2110" "0" "c.2110A>G" "r.(?)" "p.(Asn704Asp)" "9" "0000640425" "00023884" "55" "2198" "0" "2198" "0" "c.2198C>T" "r.(?)" "p.(Thr733Ile)" "10" "0000640426" "00023884" "55" "2215" "0" "2215" "0" "c.2215C>G" "r.(?)" "p.(Arg739Gly)" "10" "0000640427" "00023884" "55" "2216" "0" "2216" "0" "c.2216G>A" "r.(?)" "p.(Arg739His)" "10" "0000640428" "00023884" "55" "2271" "0" "2271" "0" "c.2271G>T" "r.(?)" "p.(Trp757Cys)" "10" "0000640429" "00023884" "33" "2304" "0" "2304" "0" "c.2304A>G" "r.(=)" "p.(=)" "10" "0000640430" "00023884" "55" "2332" "0" "2332" "0" "c.2332A>G" "r.(?)" "p.(Lys778Glu)" "11" "0000640431" "00023884" "99" "2372" "0" "2372" "0" "c.2372C>T" "r.(?)" "p.(Ala791Val)" "11" "0000640432" "00023884" "33" "2391" "0" "2391" "0" "c.2391G>A" "r.(?)" "p.(=)" "11" "0000640433" "00023884" "55" "2417" "0" "2417" "0" "c.2417T>C" "r.(?)" "p.(Val806Ala)" "11" "0000640434" "00023884" "55" "2437" "0" "2437" "0" "c.2437A>G" "r.(?)" "p.(Asn813Asp)" "11" "0000640435" "00023884" "55" "2447" "0" "2447" "0" "c.2447T>G" "r.(?)" "p.(Val816Gly)" "11" "0000640436" "00023884" "55" "2488" "0" "2488" "0" "c.2488C>G" "r.(?)" "p.(Arg830Gly)" "12" "0000640437" "00023884" "55" "2509" "0" "2509" "0" "c.2509G>A" "r.(?)" "p.(Ala837Thr)" "12" "0000640438" "00023884" "90" "2575" "0" "2575" "0" "c.2575T>G" "r.(?)" "p.(Phe859Val)" "12" "0000640439" "00023884" "55" "2597" "0" "2597" "0" "c.2597T>C" "r.(?)" "p.(Val866Ala)" "12" "0000640440" "00023884" "55" "2602" "0" "2602" "0" "c.2602A>G" "r.(?)" "p.(Ile868Val)" "12" "0000640441" "00023884" "55" "2609" "0" "2609" "0" "c.2609T>A" "r.(?)" "p.(Leu870His)" "12" "0000640442" "00023884" "33" "2622" "0" "2622" "0" "c.2622T>C" "r.(=)" "p.(=)" "12" "0000640443" "00023884" "55" "2638" "-7" "2638" "-7" "c.2638-7del" "r.spl?" "p.(=)" "11i" "0000640444" "00023884" "33" "2670" "0" "2670" "0" "c.2670T>C" "r.(?)" "p.(=)" "12" "0000640445" "00023884" "33" "2712" "0" "2712" "0" "c.2712C>T" "r.(?)" "p.(=)" "13" "0000640446" "00023884" "55" "2739" "0" "2739" "0" "c.2739G>A" "r.(?)" "p.(=)" "13" "0000640447" "00023884" "33" "2769" "0" "2769" "0" "c.2769C>T" "r.(=)" "p.(=)" "13" "0000640448" "00023884" "33" "2785" "-8" "2785" "-8" "c.2785-8A>T" "r.spl?" "p.(=)" "12i" "0000640449" "00023884" "55" "2879" "0" "2879" "0" "c.2879C>T" "r.(?)" "p.(Ser960Leu)" "14" "0000640450" "00023884" "55" "2962" "0" "2962" "0" "c.2962C>T" "r.(?)" "p.(Arg988Cys)" "14" "0000640451" "00023884" "55" "2963" "0" "2963" "0" "c.2963G>A" "r.(?)" "p.(Arg988His)" "14" "0000640452" "00023884" "33" "2967" "0" "2967" "0" "c.2967C>T" "r.(=)" "p.(=)" "14" "0000640453" "00023884" "99" "3025" "0" "3025" "0" "c.3025C>T" "r.(?)" "p.(Pro1009Ser)" "15" "0000640454" "00023884" "55" "3031" "0" "3031" "0" "c.3031A>G" "r.(?)" "p.(Arg1011Gly)" "15" "0000640455" "00023884" "55" "3084" "0" "3084" "0" "c.3084T>A" "r.(?)" "p.(Asp1028Glu)" "15" "0000640456" "00023884" "55" "3119" "0" "3119" "0" "c.3119G>A" "r.(?)" "p.(Arg1040Gln)" "15" "0000640457" "00023884" "55" "3119" "0" "3119" "0" "c.3119G>T" "r.(?)" "p.(Arg1040Leu)" "15" "0000640458" "00023884" "33" "3222" "0" "3222" "0" "c.3222T>C" "r.(=)" "p.(=)" "16" "0000640459" "00023884" "55" "3253" "0" "3253" "0" "c.3253C>A" "r.(?)" "p.(Gln1085Lys)" "16" "0000640460" "00023884" "55" "3271" "0" "3271" "0" "c.3271C>T" "r.(?)" "p.(Pro1091Ser)" "16" "0000640461" "00023884" "55" "3272" "0" "3272" "0" "c.3272C>T" "r.(?)" "p.(Pro1091Leu)" "16" "0000640462" "00023884" "55" "3290" "0" "3290" "0" "c.3290A>G" "r.(?)" "p.(His1097Arg)" "16" "0000640463" "00023884" "33" "3314" "-4" "3314" "-4" "c.3314-4A>G" "r.spl?" "p.?" "15i" "0000640464" "00023884" "55" "3317" "0" "3317" "0" "c.3317A>G" "r.(?)" "p.(His1106Arg)" "16" "0000640465" "00023884" "99" "3328" "0" "3328" "0" "c.3328G>A" "r.(?)" "p.(Val1110Ile)" "16" "0000640466" "00023884" "99" "3328" "0" "3328" "0" "c.3328G>T" "r.(?)" "p.(Val1110Leu)" "16" "0000640467" "00023884" "99" "3334" "0" "3334" "0" "c.3334C>T" "r.(?)" "p.(His1112Tyr)" "16" "0000640468" "00023884" "99" "3335" "0" "3335" "0" "c.3335A>G" "r.(?)" "p.(His1112Arg)" "16" "0000640469" "00023884" "55" "3350" "0" "3350" "0" "c.3350A>G" "r.(?)" "p.(Asp1117Gly)" "16" "0000640470" "00023884" "55" "3410" "0" "3410" "0" "c.3410G>C" "r.(?)" "p.(Gly1137Ala)" "17" "0000640471" "00023884" "99" "3446" "0" "3446" "0" "c.3446T>C" "r.(?)" "p.(Leu1149Ser)" "17" "0000640472" "00023884" "77" "3497" "0" "3497" "0" "c.3497G>A" "r.(?)" "p.(Arg1166Gln)" "18" "0000640473" "00023884" "33" "3531" "0" "3531" "0" "c.3531C>T" "r.(=)" "p.(=)" "18" "0000640474" "00023884" "55" "3551" "0" "3551" "0" "c.3551G>A" "r.(?)" "p.(Arg1184Gln)" "18" "0000640475" "00023884" "55" "3563" "0" "3563" "0" "c.3563G>A" "r.(?)" "p.(Gly1188Glu)" "18" "0000640476" "00023884" "99" "3572" "0" "3572" "0" "c.3572C>T" "r.(?)" "p.(Thr1191Ile)" "18" "0000640477" "00023884" "55" "3575" "0" "3575" "0" "c.3575A>G" "r.(?)" "p.(His1192Arg)" "18" "0000640478" "00023884" "11" "3603" "0" "3603" "0" "c.3603C>T" "r.(?)" "p.(=)" "18" "0000640479" "00023884" "99" "3616" "0" "3616" "0" "c.3616G>T" "r.(?)" "p.(Val1206Leu)" "18" "0000640480" "00023884" "99" "3637" "0" "3637" "0" "c.3637C>G" "r.(?)" "p.(Pro1213Ala)" "19" "0000640481" "00023884" "33" "3687" "-7" "3687" "-7" "c.3687-7T>C" "r.spl?" "p.(=)" "18i" "0000640482" "00023884" "99" "3712" "0" "3712" "0" "c.3712G>A" "r.(?)" "p.(Val1238Ile)" "19" "0000640483" "00023884" "99" "3736" "0" "3736" "0" "c.3736G>A" "r.(?)" "p.(Asp1246Asn)" "19" "0000640484" "00023884" "33" "3738" "0" "3738" "0" "c.3738C>T" "r.(=)" "p.(=)" "19" "0000640485" "00023884" "99" "3742" "0" "3742" "0" "c.3742T>G" "r.(?)" "p.(Tyr1248Asp)" "19" "0000640486" "00023884" "99" "3743" "0" "3743" "0" "c.3743A>G" "r.(?)" "p.(Tyr1248Cys)" "19" "0000640487" "00023884" "99" "3785" "0" "3785" "0" "c.3785A>G" "r.(?)" "p.(Lys1262Arg)" "20" "0000640488" "00023884" "99" "3803" "0" "3803" "0" "c.3803T>C" "r.(?)" "p.(Met1268Thr)" "20" "0000640489" "00023884" "99" "3804" "0" "3804" "0" "c.3804G>A" "r.(?)" "p.(Met1268Ile)" "20" "0000640490" "00023884" "55" "3852" "5" "3852" "5" "c.3852+5T>C" "r.spl?" "p.?" "20i" "0000640491" "00023884" "33" "3864" "0" "3864" "0" "c.3864C>T" "r.(?)" "p.(=)" "20" "0000640492" "00023884" "33" "3921" "0" "3921" "0" "c.3921C>T" "r.(=)" "p.(=)" "21" "0000640493" "00023884" "55" "3930" "0" "3930" "0" "c.3930A>G" "r.(?)" "p.(Ile1310Met)" "21" "0000640494" "00023884" "55" "4027" "0" "4027" "0" "c.4027G>A" "r.(?)" "p.(Glu1343Lys)" "21" "0000640495" "00023884" "55" "4061" "0" "4061" "0" "c.4061G>A" "r.(?)" "p.(Arg1354Gln)" "22" "0000640496" "00023884" "55" "4065" "0" "4065" "0" "c.4065A>G" "r.(=)" "p.(=)" "22" "0000640497" "00023884" "33" "4071" "0" "4071" "0" "c.4071G>C" "r.(?)" "p.(Trp1357Cys)" "22" "0000640498" "00023884" "55" "4096" "0" "4096" "0" "c.4096C>A" "r.(?)" "p.(His1366Asn)" "22" "0000640499" "00023884" "55" "4111" "0" "4111" "0" "c.4111A>G" "r.(?)" "p.(Asn1371Asp)" "22" "0000640500" "00023884" "55" "4129" "0" "4129" "0" "c.4129G>A" "r.(?)" "p.(Val1377Ile)" "22" "0000640501" "00023884" "55" "4154" "0" "4154" "0" "c.4154C>G" "r.(?)" "p.(Ser1385Cys)" "22" "0000640502" "00023884" "55" "4171" "0" "4171" "0" "c.4171G>C" "r.(?)" "p.(Ala1391Pro)" "22" "0000640503" "00023884" "33" "4176" "0" "4176" "0" "c.4176C>T" "r.(?)" "p.(=)" "22" "0000640504" "00023884" "55" "4198" "0" "4198" "0" "c.4198C>T" "r.(?)" "p.(Arg1400*)" "22" "0000640505" "00023884" "55" "4199" "0" "4199" "0" "c.4199G>A" "r.(?)" "p.(Arg1400Gln)" "22" "0000640506" "00023884" "55" "4205" "0" "4205" "0" "c.4205C>G" "r.(?)" "p.(Ala1402Gly)" "22" "0000652125" "00025889" "30" "144" "0" "144" "0" "c.144G>A" "r.(=)" "p.(=)" "" "0000652125" "00023884" "30" "144" "0" "144" "0" "c.144G>A" "r.(=)" "p.(=)" "" "0000652126" "00025889" "50" "2975" "0" "2975" "0" "c.2975C>T" "r.(?)" "p.(Thr992Ile)" "" "0000652126" "00023884" "50" "3029" "0" "3029" "0" "c.3029C>T" "r.(?)" "p.(Thr1010Ile)" "" "0000655713" "00025889" "10" "-14" "-4" "-14" "-4" "c.-14-4G>A" "r.spl?" "p.?" "" "0000655713" "00023884" "10" "-14" "-4" "-14" "-4" "c.-14-4G>A" "r.spl?" "p.?" "" "0000655714" "00025889" "30" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Gly24Glu)" "" "0000655714" "00023884" "30" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Gly24Glu)" "" "0000663708" "00023884" "50" "3637" "0" "3637" "0" "c.3637C>T" "r.(?)" "p.(Leu1213Phe)" "" "0000675230" "00023884" "70" "2271" "0" "2271" "0" "c.2271G>A" "r.(?)" "p.(Trp757*)" "" "0000689867" "00025889" "30" "1414" "0" "1414" "0" "c.1414C>T" "r.(?)" "p.(Pro472Ser)" "" "0000689867" "00023884" "30" "1414" "0" "1414" "0" "c.1414C>T" "r.(?)" "p.(Pro472Ser)" "" "0000699895" "00023884" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Ala119Val)" "" "0000765652" "00023884" "90" "3389" "0" "3389" "0" "c.3389T>C" "r.(3389u>c)" "p.(Leu1130Ser)" "" "0000780181" "00023884" "70" "3373" "0" "3373" "0" "c.3373T>G" "r.(3373u>g)" "p.(Cys1125Gly)" "16" "0000780183" "00023884" "70" "3305" "0" "3305" "0" "c.3305T>C" "r.(3305u>c)" "p.(Ile1102Thr)" "16" "0000780184" "00023884" "50" "3257" "0" "3257" "0" "c.3257A>T" "r.(3257a>u)" "p.(His1086Leu)" "16" "0000780186" "00023884" "50" "3167" "0" "3167" "0" "c.3167G>A" "r.(3167g>a)" "p.(Gly1056Glu)" "15" "0000780187" "00023884" "50" "3052" "0" "3052" "0" "c.3052T>C" "r.(3052u>c)" "p.(Ser1018Pro)" "15" "0000780189" "00023884" "50" "1277" "0" "1277" "0" "c.1277G>C" "r.(1277g>c)" "p.(Arg426Pro)" "4" "0000780195" "00023884" "50" "1702" "-1" "4173" "0" "c.(1701+1_1702-1)_(4173_?)dup" "r.?" "p.?" "dup ex 6 to 21" "0000802853" "00025889" "10" "103" "0" "103" "0" "c.103A>T" "r.(?)" "p.(Met35Leu)" "" "0000802853" "00023884" "10" "103" "0" "103" "0" "c.103A>T" "r.(?)" "p.(Met35Leu)" "" "0000802854" "00025889" "50" "244" "0" "244" "0" "c.244G>A" "r.(?)" "p.(Ala82Thr)" "" "0000802854" "00023884" "50" "244" "0" "244" "0" "c.244G>A" "r.(?)" "p.(Ala82Thr)" "" "0000802855" "00025889" "30" "467" "0" "467" "0" "c.467C>T" "r.(?)" "p.(Ser156Leu)" "" "0000802855" "00023884" "30" "467" "0" "467" "0" "c.467C>T" "r.(?)" "p.(Ser156Leu)" "" "0000802856" "00025889" "30" "789" "0" "789" "0" "c.789G>A" "r.(?)" "p.(Thr263=)" "" "0000802856" "00023884" "30" "789" "0" "789" "0" "c.789G>A" "r.(?)" "p.(Thr263=)" "" "0000802857" "00025889" "50" "901" "0" "901" "0" "c.901A>G" "r.(?)" "p.(Thr301Ala)" "" "0000802857" "00023884" "50" "901" "0" "901" "0" "c.901A>G" "r.(?)" "p.(Thr301Ala)" "" "0000802858" "00025889" "50" "1039" "0" "1039" "0" "c.1039G>A" "r.(?)" "p.(Ala347Thr)" "" "0000802858" "00023884" "50" "1039" "0" "1039" "0" "c.1039G>A" "r.(?)" "p.(Ala347Thr)" "" "0000802859" "00025889" "30" "1659" "0" "1659" "0" "c.1659C>T" "r.(?)" "p.(Ser553=)" "" "0000802859" "00023884" "30" "1659" "0" "1659" "0" "c.1659C>T" "r.(?)" "p.(Ser553=)" "" "0000802860" "00025889" "10" "2584" "-9" "2584" "-9" "c.2584-9del" "r.(=)" "p.(=)" "" "0000802860" "00023884" "10" "2638" "-9" "2638" "-9" "c.2638-9del" "r.(=)" "p.(=)" "" "0000802861" "00025889" "30" "2731" "-173" "2731" "-173" "c.2731-173A>T" "r.(=)" "p.(=)" "" "0000802861" "00023884" "30" "2785" "-173" "2785" "-173" "c.2785-173A>T" "r.(=)" "p.(=)" "" "0000802862" "00025889" "10" "2731" "-111" "2731" "-111" "c.2731-111T>C" "r.(=)" "p.(=)" "" "0000802862" "00023884" "10" "2785" "-111" "2785" "-111" "c.2785-111T>C" "r.(=)" "p.(=)" "" "0000802863" "00025889" "50" "2908" "0" "2908" "0" "c.2908C>A" "r.(?)" "p.(Arg970Ser)" "" "0000802863" "00023884" "50" "2962" "0" "2962" "0" "c.2962C>A" "r.(?)" "p.(Arg988Ser)" "" "0000802864" "00025889" "30" "3522" "0" "3522" "0" "c.3522T>C" "r.(?)" "p.(His1174=)" "" "0000802864" "00023884" "30" "3576" "0" "3576" "0" "c.3576T>C" "r.(?)" "p.(His1192=)" "" "0000802865" "00025889" "50" "3565" "0" "3565" "0" "c.3565G>A" "r.(?)" "p.(Ala1189Thr)" "" "0000802865" "00023884" "50" "3619" "0" "3619" "0" "c.3619G>A" "r.(?)" "p.(Ala1207Thr)" "" "0000802866" "00025889" "30" "4105" "0" "4105" "0" "c.4105T>C" "r.(?)" "p.(Leu1369=)" "" "0000802866" "00023884" "30" "4159" "0" "4159" "0" "c.4159T>C" "r.(?)" "p.(Leu1387=)" "" "0000846502" "00025889" "70" "3503" "0" "3503" "0" "c.3503T>G" "r.(?)" "p.(Phe1168Cys)" "" "0000846502" "00023884" "70" "3557" "0" "3557" "0" "c.3557T>G" "r.(?)" "p.(Phe1186Cys)" "" "0000846503" "00025889" "70" "3503" "0" "3503" "0" "c.3503T>G" "r.(?)" "p.(Phe1168Cys)" "" "0000846503" "00023884" "70" "3557" "0" "3557" "0" "c.3557T>G" "r.(?)" "p.(Phe1186Cys)" "" "0000851378" "00025889" "50" "959" "0" "959" "0" "c.959C>T" "r.(?)" "p.(Ala320Val)" "" "0000851378" "00023884" "50" "959" "0" "959" "0" "c.959C>T" "r.(?)" "p.(Ala320Val)" "" "0000851379" "00025889" "10" "2264" "89" "2264" "89" "c.2264+89C>T" "r.(=)" "p.(=)" "" "0000851379" "00023884" "10" "2264" "89" "2264" "89" "c.2264+89C>T" "r.(=)" "p.(=)" "" "0000851380" "00025889" "50" "2624" "0" "2624" "0" "c.2624T>G" "r.(?)" "p.(Leu875*)" "" "0000851380" "00023884" "50" "2678" "0" "2678" "0" "c.2678T>G" "r.(?)" "p.(Leu893*)" "" "0000851381" "00025889" "30" "3355" "0" "3355" "0" "c.3355G>A" "r.(?)" "p.(Gly1119Arg)" "" "0000851381" "00023884" "30" "3409" "0" "3409" "0" "c.3409G>A" "r.(?)" "p.(Gly1137Arg)" "" "0000860586" "00025889" "10" "390" "0" "390" "0" "c.390C>T" "r.(?)" "p.(Leu130=)" "" "0000860586" "00023884" "10" "390" "0" "390" "0" "c.390C>T" "r.(?)" "p.(Leu130=)" "" "0000860587" "00025889" "10" "504" "0" "504" "0" "c.504G>T" "r.(?)" "p.(Glu168Asp)" "" "0000860587" "00023884" "10" "504" "0" "504" "0" "c.504G>T" "r.(?)" "p.(Glu168Asp)" "" "0000860588" "00025889" "10" "1085" "0" "1085" "0" "c.1085T>C" "r.(?)" "p.(Met362Thr)" "" "0000860588" "00023884" "10" "1085" "0" "1085" "0" "c.1085T>C" "r.(?)" "p.(Met362Thr)" "" "0000887552" "00025889" "10" "504" "0" "504" "0" "c.504G>T" "r.(?)" "p.(Glu168Asp)" "" "0000887552" "00023884" "10" "504" "0" "504" "0" "c.504G>T" "r.(?)" "p.(Glu168Asp)" "" "0000887553" "00025889" "30" "1201" "-15" "1201" "-15" "c.1201-15del" "r.(=)" "p.(=)" "" "0000887553" "00023884" "30" "1201" "-15" "1201" "-15" "c.1201-15del" "r.(=)" "p.(=)" "" "0000887554" "00025889" "30" "1966" "-36" "1966" "-36" "c.1966-36A>G" "r.(=)" "p.(=)" "" "0000887554" "00023884" "30" "1966" "-36" "1966" "-36" "c.1966-36A>G" "r.(=)" "p.(=)" "" "0000887555" "00025889" "50" "3236" "0" "3236" "0" "c.3236A>G" "r.(?)" "p.(His1079Arg)" "" "0000887555" "00023884" "50" "3290" "0" "3290" "0" "c.3290A>G" "r.(?)" "p.(His1097Arg)" "" "0000887556" "00025889" "30" "4122" "0" "4122" "0" "c.4122C>T" "r.(?)" "p.(Asn1374=)" "" "0000887556" "00023884" "30" "4176" "0" "4176" "0" "c.4176C>T" "r.(?)" "p.(Asn1392=)" "" "0000912619" "00025889" "50" "387" "0" "387" "0" "c.387A>T" "r.(?)" "p.(Gln129His)" "" "0000912619" "00023884" "50" "387" "0" "387" "0" "c.387A>T" "r.(?)" "p.(Gln129His)" "" "0000912620" "00025889" "30" "1039" "0" "1039" "0" "c.1039G>A" "r.(?)" "p.(Ala347Thr)" "" "0000912620" "00023884" "30" "1039" "0" "1039" "0" "c.1039G>A" "r.(?)" "p.(Ala347Thr)" "" "0000912621" "00025889" "30" "3522" "12" "3522" "12" "c.3522+12G>T" "r.(=)" "p.(=)" "" "0000912621" "00023884" "30" "3576" "12" "3576" "12" "c.3576+12G>T" "r.(=)" "p.(=)" "" "0000927949" "00023884" "90" "3082" "0" "3082" "5" "c.3082_3082+5delinsT" "r.(?)" "p.(?)" "" "0000929267" "00025889" "30" "406" "0" "406" "0" "c.406G>A" "r.(?)" "p.(Val136Ile)" "" "0000929267" "00023884" "30" "406" "0" "406" "0" "c.406G>A" "r.(?)" "p.(Val136Ile)" "" "0000944520" "00023884" "90" "2575" "0" "2575" "0" "c.2575T>G" "r.(?)" "p.(Phe859Val)" "" "0000948802" "00025889" "30" "948" "0" "948" "0" "c.948A>G" "r.(?)" "p.(Ile316Met)" "" "0000948802" "00023884" "30" "948" "0" "948" "0" "c.948A>G" "r.(?)" "p.(Ile316Met)" "" "0000948803" "00025889" "50" "2198" "0" "2198" "0" "c.2198C>T" "r.(?)" "p.(Thr733Ile)" "" "0000948803" "00023884" "50" "2198" "0" "2198" "0" "c.2198C>T" "r.(?)" "p.(Thr733Ile)" "" "0000948804" "00025889" "30" "2584" "-7" "2584" "-7" "c.2584-7del" "r.(=)" "p.(=)" "" "0000948804" "00023884" "30" "2638" "-7" "2638" "-7" "c.2638-7del" "r.(=)" "p.(=)" "" "0000953636" "00025889" "90" "2888" "-15" "2895" "0" "c.2888-15_2895del" "r.(?)" "p.(?)" "" "0000959794" "00023884" "90" "2942" "-30" "2942" "-26" "c.2942-30_2942-26delinsTG" "r.(?)" "p.(?)" "" "0000964383" "00025889" "10" "2584" "-9" "2584" "-9" "c.2584-9del" "r.(=)" "p.(=)" "" "0000964383" "00023884" "10" "2638" "-9" "2638" "-9" "c.2638-9del" "r.(=)" "p.(=)" "" "0000964384" "00025889" "30" "2584" "-7" "2584" "-7" "c.2584-7del" "r.(=)" "p.(=)" "" "0000964384" "00023884" "30" "2638" "-7" "2638" "-7" "c.2638-7del" "r.(=)" "p.(=)" "" "0000971573" "00025889" "90" "2888" "-24" "2888" "-2" "c.2888-24_2888-2del" "r.(?)" "p.(?)" "" "0000971576" "00025889" "90" "3028" "2" "3028" "2" "c.3028+2T>G" "r.(?)" "p.(?)" "" "0000971577" "00025889" "90" "3028" "2" "3028" "2" "c.3028+2T>G" "r.(?)" "p.(?)" "" "0000972074" "00025889" "90" "2888" "-20" "2888" "-9" "c.2888-20_2888-9del" "r.(?)" "p.(?)" "" "0000987559" "00025889" "90" "3028" "1" "3028" "1" "c.3028+1G>A" "r.(?)" "p.(?)" "" "0000989085" "00025889" "90" "2888" "-9" "2888" "-9" "c.2888-9delinsAAAA" "r.(?)" "p.(?)" "" "0000996140" "00025889" "50" "1733" "0" "1733" "0" "c.1733G>C" "r.(?)" "p.(Gly578Ala)" "" "0000996140" "00023884" "50" "1733" "0" "1733" "0" "c.1733G>C" "r.(?)" "p.(Gly578Ala)" "" "0000996141" "00025889" "50" "3355" "0" "3355" "0" "c.3355G>A" "r.(?)" "p.(Gly1119Arg)" "" "0000996141" "00023884" "50" "3409" "0" "3409" "0" "c.3409G>A" "r.(?)" "p.(Gly1137Arg)" "" "0001008408" "00025889" "90" "2888" "-13" "2893" "0" "c.2888-13_2893delinsACTGCCCA" "r.(?)" "p.(?)" "" "0001008598" "00025889" "90" "3028" "3" "3028" "3" "c.3028+3A>T" "r.(?)" "p.(?)" "" "0001011162" "00025889" "90" "3028" "2" "3028" "2" "c.3028+2T>C" "r.(?)" "p.(?)" "" "0001011163" "00025889" "90" "3028" "0" "3028" "9" "c.3028_3028+9del" "r.(?)" "p.(?)" "" "0001014261" "00025889" "30" "110" "0" "110" "0" "c.110T>C" "r.(?)" "p.(Val37Ala)" "" "0001014261" "00023884" "30" "110" "0" "110" "0" "c.110T>C" "r.(?)" "p.(Val37Ala)" "" "0001014262" "00025889" "30" "1584" "0" "1584" "0" "c.1584A>G" "r.(?)" "p.(=)" "" "0001014262" "00023884" "30" "1584" "0" "1584" "0" "c.1584A>G" "r.(?)" "p.(=)" "" "0001017634" "00025889" "90" "2888" "-18" "2888" "-10" "c.2888-18_2888-10del" "r.(?)" "p.(?)" "" "0001018800" "00025889" "90" "2888" "-18" "2888" "-1" "c.2888-18_2888-1delinsGCCCA" "r.(?)" "p.(?)" "" "0001025300" "00025889" "50" "889" "0" "889" "0" "c.889G>C" "r.(?)" "p.(Glu297Gln)" "" "0001025300" "00023884" "50" "889" "0" "889" "0" "c.889G>C" "r.(?)" "p.(Glu297Gln)" "" "0001025301" "00025889" "30" "1966" "-23" "1966" "-23" "c.1966-23T>C" "r.(=)" "p.(=)" "" "0001025301" "00023884" "30" "1966" "-23" "1966" "-23" "c.1966-23T>C" "r.(=)" "p.(=)" "" "0001025302" "00025889" "50" "2110" "0" "2110" "0" "c.2110A>G" "r.(?)" "p.(Asn704Asp)" "" "0001025302" "00023884" "50" "2110" "0" "2110" "0" "c.2110A>G" "r.(?)" "p.(Asn704Asp)" "" "0001029862" "00025889" "90" "3028" "0" "3028" "0" "c.3028G>A" "r.spl" "p.?" "" "0001029862" "00023884" "90" "3082" "0" "3082" "0" "c.3082G>A" "r.spl" "p.?" "" "0001030322" "00023884" "50" "2525" "0" "2525" "0" "c.2525A>G" "r.(?)" "p.(Asp842Gly)" "" "0001036075" "00025889" "10" "-207" "0" "-207" "0" "c.-207C>G" "r.(?)" "p.(=)" "" "0001036075" "00023884" "10" "-207" "0" "-207" "0" "c.-207C>G" "r.(?)" "p.(=)" "" "0001036076" "00025889" "50" "611" "0" "613" "0" "c.611_613del" "r.(?)" "p.(Ser204del)" "" "0001036076" "00023884" "50" "611" "0" "613" "0" "c.611_613del" "r.(?)" "p.(Ser204del)" "" "0001036077" "00025889" "50" "938" "0" "938" "0" "c.938T>C" "r.(?)" "p.(Val313Ala)" "" "0001036077" "00023884" "50" "938" "0" "938" "0" "c.938T>C" "r.(?)" "p.(Val313Ala)" "" "0001036078" "00025889" "30" "1966" "-17" "1966" "-17" "c.1966-17T>C" "r.(=)" "p.(=)" "" "0001036078" "00023884" "30" "1966" "-17" "1966" "-17" "c.1966-17T>C" "r.(=)" "p.(=)" "" "0001036079" "00025889" "30" "2584" "-23" "2584" "-23" "c.2584-23T>A" "r.(=)" "p.(=)" "" "0001036079" "00023884" "30" "2638" "-23" "2638" "-23" "c.2638-23T>A" "r.(=)" "p.(=)" "" "0001036080" "00025889" "30" "2908" "0" "2908" "0" "c.2908C>T" "r.(?)" "p.(Arg970Cys)" "" "0001036080" "00023884" "30" "2962" "0" "2962" "0" "c.2962C>T" "r.(?)" "p.(Arg988Cys)" "" "0001036081" "00025889" "50" "2959" "0" "2959" "0" "c.2959C>T" "r.(?)" "p.(Arg987*)" "" "0001036081" "00023884" "50" "3013" "0" "3013" "0" "c.3013C>T" "r.(?)" "p.(Arg1005*)" "" "0001036082" "00025889" "10" "2975" "0" "2975" "0" "c.2975C>T" "r.(?)" "p.(Thr992Ile)" "" "0001036082" "00023884" "10" "3029" "0" "3029" "0" "c.3029C>T" "r.(?)" "p.(Thr1010Ile)" "" "0001036083" "00025889" "30" "3340" "8" "3340" "8" "c.3340+8G>A" "r.(=)" "p.(=)" "" "0001036083" "00023884" "30" "3394" "8" "3394" "8" "c.3394+8G>A" "r.(=)" "p.(=)" "" "0001045012" "00025889" "50" "467" "0" "467" "0" "c.467C>T" "r.(?)" "p.(Ser156Leu)" "" "0001045353" "00023884" "90" "3079" "0" "3082" "4" "c.3079_3082+4del" "r.(?)" "p.(?)" "" "0001046092" "00025889" "30" "1393" "-6" "1393" "-6" "c.1393-6G>A" "r.(=)" "p.(=)" "" "0001046092" "00023884" "30" "1393" "-6" "1393" "-6" "c.1393-6G>A" "r.(=)" "p.(=)" "" "0001046898" "00023884" "90" "2942" "-13" "2942" "-12" "c.2942-13_2942-12insAAAAA" "r.(?)" "p.(?)" "" "0001047080" "00023884" "10" "2785" "-111" "2785" "-111" "c.2785-111T>C" "r.(?)" "p.(?)" "" "0001047192" "00023884" "30" "4314" "0" "4314" "0" "c.*87G>A" "r.(?)" "p.(?)" "" "0001047240" "00023884" "30" "3852" "123" "3852" "123" "c.3852+123T>C" "r.(?)" "p.(?)" "" "0001047573" "00025889" "90" "3014" "0" "3028" "1" "c.3014_3028+1del" "r.(?)" "p.(?)" "" "0001048137" "00025889" "50" "467" "0" "467" "0" "c.467C>T" "r.(?)" "p.(Ser156Leu)" "" "0001048149" "00025889" "30" "467" "0" "467" "0" "c.467C>T" "r.(?)" "p.(Ser156Leu)" "" "0001048796" "00025889" "30" "3603" "0" "3603" "0" "c.3603C>T" "r.(?)" "p.(Val1201=)" "" "0001048989" "00025889" "10" "390" "0" "390" "0" "c.390C>T" "r.(?)" "p.(Leu130=)" "" "0001048990" "00025889" "30" "1085" "0" "1085" "0" "c.1085T>C" "r.(?)" "p.(Met362Thr)" "" "0001049020" "00023884" "30" "3531" "0" "3531" "0" "c.3531C>T" "r.(?)" "p.(Tyr1177=)" "" "0001049120" "00023884" "10" "2942" "-85" "2942" "-85" "c.2942-85C>T" "r.(?)" "p.(?)" "" "0001049121" "00023884" "30" "3029" "0" "3029" "0" "c.3029C>T" "r.(?)" "p.(Thr1010Ile)" "" "0001049126" "00025889" "30" "1528" "-131" "1528" "-131" "c.1528-131G>T" "r.(?)" "p.(?)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 206 "{{screeningid}}" "{{variantid}}" "0000036181" "0000063306" "0000036182" "0000063307" "0000036183" "0000063308" "0000036184" "0000063309" "0000036185" "0000063310" "0000036186" "0000063311" "0000036187" "0000063312" "0000036188" "0000063313" "0000105058" "0000170328" "0000263221" "0000593702" "0000265081" "0000595664" "0000267605" "0000599065" "0000267605" "0000599066" "0000267605" "0000599067" "0000284590" "0000640332" "0000284591" "0000640333" "0000284592" "0000640334" "0000284593" "0000640335" "0000284594" "0000640336" "0000284595" "0000640337" "0000284596" "0000640338" "0000284597" "0000640339" "0000284598" "0000640340" "0000284599" "0000640341" "0000284600" "0000640342" "0000284601" "0000640343" "0000284602" "0000640344" "0000284603" "0000640345" "0000284604" "0000640346" "0000284605" "0000640347" "0000284606" "0000640348" "0000284607" "0000640349" "0000284608" "0000640350" "0000284609" "0000640351" "0000284610" "0000640352" "0000284611" "0000640353" "0000284612" "0000640354" "0000284613" "0000640355" "0000284614" "0000640356" "0000284615" "0000640357" "0000284616" "0000640358" "0000284617" "0000640359" "0000284618" "0000640360" "0000284619" "0000640361" "0000284620" "0000640362" "0000284621" "0000640363" "0000284622" "0000640364" "0000284623" "0000640365" "0000284624" "0000640366" "0000284625" "0000640367" "0000284626" "0000640368" "0000284627" "0000640369" "0000284628" "0000640370" "0000284629" "0000640371" "0000284630" "0000640372" "0000284631" "0000640373" "0000284632" "0000640374" "0000284633" "0000640375" "0000284634" "0000640376" "0000284635" "0000640377" "0000284636" "0000640378" "0000284637" "0000640379" "0000284638" "0000640380" "0000284639" "0000640381" "0000284640" "0000640382" "0000284641" "0000640383" "0000284642" "0000640384" "0000284643" "0000640385" "0000284644" "0000640386" "0000284645" "0000640387" "0000284646" "0000640388" "0000284647" "0000640389" "0000284648" "0000640390" "0000284649" "0000640391" "0000284650" "0000640392" "0000284651" "0000640393" "0000284652" "0000640394" "0000284653" "0000640395" "0000284654" "0000640396" "0000284655" "0000640397" "0000284656" "0000640398" "0000284657" "0000640399" "0000284658" "0000640400" "0000284659" "0000640401" "0000284660" "0000640402" "0000284661" "0000640403" "0000284662" "0000640404" "0000284663" "0000640405" "0000284664" "0000640406" "0000284665" "0000640407" "0000284666" "0000640408" "0000284667" "0000640409" "0000284668" "0000640410" "0000284669" "0000640411" "0000284670" "0000640412" "0000284671" "0000640413" "0000284672" "0000640414" "0000284673" "0000640415" "0000284674" "0000640416" "0000284675" "0000640417" "0000284676" "0000640418" "0000284677" "0000640419" "0000284678" "0000640420" "0000284679" "0000640421" "0000284680" "0000640422" "0000284681" "0000640423" "0000284682" "0000640424" "0000284683" "0000640425" "0000284684" "0000640426" "0000284685" "0000640427" "0000284686" 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