### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PLEC) # 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}}" "PLEC" "plectin" "8" "q24" "unknown" "NG_012492.1" "UD_132084416128" "" "https://www.DMD.nl/PLEC_home.html" "" "1" "9069" "5339" "601282" "1" "1" "1" "1" "This database is one of the gene variant databases from the:" "" "g" "https://databases.lovd.nl/shared/refseq/PLEC_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2010-03-01 00:00:00" "00006" "2019-12-31 16:01:59" "00000" "2025-07-08 13:22:38" ## 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}}" "00016320" "PLEC" "transcript variant 1" "001" "NM_000445.3" "" "NP_000436.2" "" "" "" "-49" "14749" "13725" "145050913" "144989321" "" "0000-00-00 00:00:00" "" "" "00025657" "PLEC" "transcript variant 11" "017" "NM_201384.1" "" "NP_958786.1" "" "" "" "-129" "14668" "13644" "145013758" "144989321" "00006" "2021-11-19 15:53:50" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 17 "{{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" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "01266" "EBMD" "dystrophy, corneal, epithelial basement membrane (EBMD)" "AD" "121820" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01313" "EBSOG" "epidermolysis bullosa simplex, Ogna type (EBSOG)" "AD" "131950" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-11-11 10:28:24" "01775" "EBSMD" "epidermolysa bullosa simplex, with muscular dystrophy (EBSMD)" "AR" "226670" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-11-11 10:28:48" "02335" "EBSB1" "epidermolysis bullosa simplex, autosomal recessive, type 1 (EBSB-1)" "AR" "601001" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03093" "EBSPA" "epidermolysis bullosa simplex, with pyloric atresia (EBSPA)" "AR" "612138" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-11-11 10:29:34" "03406" "LGMDR17;LGMD2Q" "dystrophy, muscular, limb-girdle, autosomal recessive, type 17/2Q (LGMDR17, LGMD2Q)" "AR" "613723" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-11-11 10:30:55" "04173" "LVNC" "ventricular noncompaction, left (LVNC)" "" "" "" "" "" "00006" "2015-01-20 15:35:56" "00006" "2015-10-12 17:03:37" "04327" "CRS" "craniosynostosis (CRS)" "" "" "" "" "" "00006" "2015-09-12 20:59:03" "" "" "04614" "EBSND" "epidermolysis bullosa simplex?, with nail dystrophy (EBSND)" "AR" "616487" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2020-11-11 10:29:12" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" "05324" "DMD" "dystrophy, muscular, Duchenne type (DMD)" "XLR" "310200" "" "" "" "00006" "2017-09-01 17:41:21" "00006" "2021-12-10 21:51:32" "05328" "epidermolysis bullosa" "epidermolysis bullosa" "" "" "" "" "" "00006" "2017-09-08 17:28:42" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{geneid}}" "{{diseaseid}}" "PLEC" "01313" "PLEC" "01775" "PLEC" "03093" "PLEC" "03406" "PLEC" "04614" ## Individuals ## Do not remove or alter this header ## ## Count = 213 "{{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}}" "00050440" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected sibling(s)" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00119121" "" "" "" "1" "" "02240" "" "" "" "" "Japan" "" "0" "" "" "" "" "00146108" "" "" "" "1" "" "00006" "{PMID:Zhong 2017:27750387}" "" "M" "" "China" "" "0" "" "" "" "Pat" "00174785" "" "" "" "1" "" "00006" "{PMID:Fichna 2018:29970176}, {PMID:Macias 2021:34720847}" "" "M" "" "Poland" "" "0" "" "" "" "Pat19;PatA2" "00174800" "" "" "" "1" "" "00006" "{PMID:Fichna 2018:29970176}, {PMID:Macias 2021:34720847}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Poland" "" "0" "" "" "" "Pat130a;A11" "00207952" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00208808" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00208912" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00210178" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00213158" "" "" "" "2" "" "00006" "{PMID:Gundesli 2010:21109228}" "6-generation family, 4 affecteds" "F" "" "Turkey" "" "0" "" "" "" "21109228-Fam1.V1" "00213159" "" "" "" "2" "" "00006" "{PMID:Gundesli 2010:21109228}" "6-generation family, 4 affecteds" "F" "" "Turkey" "" "0" "" "" "" "21109228-Fam1.V2" "00213160" "" "" "" "2" "" "00006" "{PMID:Gundesli 2010:21109228}" "6-generation family, 4 affecteds" "M" "" "Turkey" "" "0" "" "" "" "21109228-Fam1.V3" "00213161" "" "" "" "2" "" "00006" "{PMID:Gundesli 2010:21109228}" "6-generation family, 4 affecteds" "M" "" "Turkey" "" "0" "" "" "" "21109228-Fam1.V1.1" "00213162" "" "" "" "2" "" "00006" "{PMID:Gundesli 2010:21109228}" "paternal aunt with LGMD" "M" "" "Turkey" "" "0" "" "" "" "21109228-Fam2.P20" "00213163" "" "" "" "2" "" "00006" "{PMID:Gundesli 2010:21109228}" "consanguineous parents, 2nd cousins," "M" "yes" "Turkey" "" "0" "" "" "" "21109228-Fam3.P47" "00213164" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" 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"30564623-Pat" "00220289" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220293" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220296" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220299" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220306" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220311" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220313" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220325" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220329" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220332" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220334" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220339" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220343" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220347" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220349" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220352" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220356" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220358" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220359" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220370" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220371" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220375" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220394" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220396" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220398" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220405" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220409" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220447" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220485" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220495" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220581" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220827" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220828" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220841" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220845" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220849" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221089" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222200" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222445" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222468" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222519" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00265473" "" "" "" "1" "" "00006" "{PMID:Özyilmaz 2019:31066050}" "" "F" "" "Turkey" "" "0" "" "" "" "Pat20" "00294585" "" "" "" "45" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294586" "" "" "" "13" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294587" "" "" "" "49" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294588" "" "" "" "14" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294589" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294590" "" "" "" "23" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294591" "" "" "" "148" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296398" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00299701" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00305181" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305182" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305183" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305525" "" "" "" "1" "" "00006" "{PMID:Vissers 2020:32553196}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "1d" "0" "" "" "" "Individual 11" "00305792" "" "" "" "1" "" "00006" "{PMID:Yu 2017:28403181}" "analysis 180 LGMD patients" "M" "" "China" "" "0" "" "" "" "P76" "00305871" "" "" "" "1" "" "00006" "{PMID:Yu 2017:28403181}" "analysis 180 LGMD patients" "F" "" "China" "" "0" "" "" "" "P174" "00316025" "" "" "" "1" "" "00006" "{PMID:Zaharieva 2016:26700687}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Fam1PatII1" "00388639" "" "" "" "1" "" "00006" "{PMID:Chakravorty 2020:33250842}" "" "M" "" "India" "" "0" "" "" "India" "Pat85" "00388670" "" "" "" "1" "" "00006" "{PMID:Chakravorty 2020:33250842}" "" "M" "" "India" "" "0" "" "" "India" "Pat71" "00388691" "" "" "" "1" "" "00006" "{PMID:Chakravorty 2020:33250842}" "" "F" "" "India" "" "0" "" "" "India" "Pat42" "00391933" "" "" "" "1" "" "03501" "{PMID:Karthikeyan 2024:39548682}" "" "M" "no" "India" "" "0" "yes" "" "" "MDCRC/0074/B-74" "00391935" "" "" "" "1" "" "03501" "{PMID:Karthikeyan 2024:39548682}" "" "M" "no" "India" "" "0" "yes" "" "" "MDCRC/0116/B-128" "00391938" "" "" "" "1" "" "03501" "{PMID:Karthikeyan 2024:39548682}" "" "M" "no" "India" "" "0" "yes" "" "" "MDCRC/0126/B-138" "00391971" "" "" "" "1" "" "03501" "{PMID:Karthikeyan 2024:39548682}" "" "M" "yes" "India" "" "0" "yes" "" "" "MDCRC/1019/DBI-863" "00391980" "" "" "" "1" "" "03501" "{PMID:Karthikeyan 2024:39548682}" "" "M" "yes" "India" "" "0" "yes" "" "" "MDCRC/1248/DBI-1046" "00391997" "" "" "" "1" "" "03501" "{PMID:Karthikeyan 2024:39548682}" "" "M" "no" "India" "" "0" "yes" "" "" "MDCRC/1688/DBI-1382" "00391998" "" "" "" "1" "" "03501" "{PMID:Karthikeyan 2024:39548682}" "" "M" "no" "India" "" "0" "yes" "" "" "MDCRC/1744/DBI-1419" "00392002" "" "" "" "1" "" "03501" "{PMID:Karthikeyan 2024:39548682}" "" "M" "no" "India" "" "0" "yes" "" "" "MDCRC/1805/DBI-1465" "00392015" "" "" "" "1" "" "03501" "{PMID:Karthikeyan 2024:39548682}" "" "M" "yes" "India" "" "0" "yes" "" "" "MDCRC/1950/DBI-1564" "00392019" "" "" "" "1" "" "03501" "{PMID:Karthikeyan 2024:39548682}" "" "M" "yes" "India" "" "0" "" "" "" "MDCRC/2018/DBI-1615" "00395530" "" "" "" "1" "" "00006" "{PMID:Liang 2020:32576226}" "" "M" "" "Taiwan" "" "0" "" "" "" "Pat40" "00399093" "" "" "" "1" "" "00006" "{PMID:Gonzalez-Quereda 2020:32403337}" "patient" "F" "" "Spain" "" "0" "" "" "" "P176" "00408289" "" "" "" "1" "" "04295" "" "Also has Myasthenia Syndrome" "F" "" "Iran" "" "" "" "" "" "" "00408290" "" "" "" "1" "" "04295" "" "" "M" "yes" "Iran" "" "" "" "" "" "" "00408291" "" "" "" "1" "" "04295" "" "Also has myasthenic syndrome" "F" "yes" "Iran" "" "" "" "" "" "" "00408292" "" "" "" "1" "" "04295" "" "" "F" "" "Iran" "" "" "" "" "" "" "00408293" "" "" "" "1" "" "04295" "" "" "M" "yes" "Iran" "" "" "" "" "" "" "00408294" "" "" "" "1" "" "04295" "" "" "M" "" "Iran" "" "0" "" "" "" "" "00430471" "" "" "" "1" "" "00006" "{PMID:Cavdarli 2023:36575883}" "analysis 146 neuromuscular disease patients, unsolved" "F" "" "Turkey" "" "0" "" "" "" "U15" "00430473" "" "" "" "1" "" "00006" "{PMID:Cavdarli 2023:36575883}" "analysis 146 neuromuscular disease patients, unsolved" "M" "" "Turkey" "" "0" "" "" "" "U17" "00436847" "" "" "" "1" "" "00006" "{PMID:Tavakoli 2023:37350320}" "CK-MM 36,781 newborn screening" "M" "" "United States" "" "0" "" "" "" "Pat25" "00436848" "" "" "" "1" "" "00006" "{PMID:Tavakoli 2023:37350320}" "CK-MM 36,781 newborn screening" "M" "" "United States" "" "0" "" "" "white;non-Hispanic" "Pat27" "00438549" "" "" "" "1" "" "00006" "{PMID:Cavdarli 2023:36575883}" "analysis 67 patients muscular dystrophy/myopathy (not DMD)" "F" "" "Turkey" "" "0" "" "" "" "U15" "00438551" "" "" "" "1" "" "00006" "{PMID:Cavdarli 2023:36575883}" "analysis 67 patients muscular dystrophy/myopathy (not DMD)" "M" "" "Turkey" "" "0" "" "" "" "U17" "00442676" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "F" "" "" "" "0" "" "" "" "Pat48" "00446848" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat150" "00454537" "" "" "" "1" "" "00006" "{PMID:Xie 2024:39198981}" "patient" "F" "" "China" "" "0" "" "not treated" "" "Pat282" "00454538" "" "" "" "1" "" "00006" "{PMID:Xie 2024:39198981}" "patient" "M" "" "China" "" "0" "" "not treated" "" "Pat283" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 210 "{{individualid}}" "{{diseaseid}}" "00050440" "00198" "00119121" "05328" "00146108" "05121" "00174785" "05126" "00174800" "05126" "00213158" "05126" "00213159" "05126" "00213160" "05126" "00213161" "05126" "00213162" "05126" "00213163" "05126" "00213164" "00198" "00213165" "00198" "00213166" "00198" "00213167" "00198" "00213168" "00198" "00213169" "00198" "00213170" "00198" "00213171" "00198" "00213172" "00198" "00213173" "00198" "00213174" "00198" "00213175" "00198" "00213176" "00198" "00213177" "00198" "00213178" "00198" "00213179" "00198" "00213180" "00198" "00213181" "00198" "00213182" "00198" "00213183" "00198" "00213184" "00198" "00213185" "00198" "00213186" "00198" "00213187" "00198" "00213188" "00198" "00213189" "00198" "00213190" "00198" "00213191" "00198" "00213192" "00198" "00213193" "00198" "00213194" "00198" "00213195" "00198" "00213196" "00198" "00213197" "00198" "00213198" "00198" "00213199" "00198" "00213200" "00198" "00213201" "00198" "00213202" "00198" "00213203" "00198" "00213204" "00198" "00213205" "00198" "00213206" "00198" "00213207" "05126" "00219447" "05126" "00219467" "05126" "00219514" "05126" "00219522" "05126" "00219539" "05126" "00219542" "05126" "00219546" "05126" "00219547" "05126" "00219549" "05126" "00219551" "05126" "00219555" "05126" "00219557" "05126" "00219601" "05126" "00219603" "05126" "00219605" "05126" "00219609" "05126" "00219626" "05126" "00219631" "05126" "00219632" "05126" "00219635" "05126" "00219643" "05126" "00219647" "05126" "00219653" "05126" "00219659" "05126" "00219660" "05126" "00219662" "05126" "00219672" "05126" "00219673" "05126" "00219687" "05126" "00219746" "04327" "00219746" "05126" "00219789" "05126" "00220088" "05126" "00220127" "05126" "00220162" "05126" "00220167" "05126" "00220178" "05126" "00220180" "05126" "00220182" "05126" "00220184" "05126" "00220198" "05126" "00220200" "05126" "00220201" "05126" "00220206" "05126" "00220209" "05126" "00220211" "05126" "00220216" "05126" "00220219" "05126" "00220220" "05126" "00220221" "05126" "00220223" "05126" "00220230" "05126" "00220232" "05126" "00220243" "05126" "00220244" "05126" "00220246" "05126" "00220249" "05126" "00220255" "05126" "00220256" "05126" "00220262" "05126" "00220265" "05126" "00220266" "05126" "00220275" "05126" "00220279" "05126" "00220286" "05126" "00220288" "05126" "00220289" "05126" "00220293" "05126" "00220296" "05126" "00220299" "05126" "00220306" "05126" "00220311" "05126" "00220313" "05126" "00220325" "05126" "00220329" "05126" "00220332" "05126" "00220334" "05126" "00220339" "05126" "00220343" "05126" "00220347" "05126" "00220349" "05126" "00220352" "05126" "00220356" "05126" "00220358" "05126" "00220359" "05126" "00220370" "05126" "00220371" "05126" "00220375" "05126" "00220394" "05126" "00220396" "05126" "00220398" "05126" "00220405" "05126" "00220409" "05126" "00220447" "05126" "00220485" "05126" "00220495" "05126" "00220581" "05126" "00220827" "05126" "00220828" "05126" "00220841" "05126" "00220845" "05126" "00220849" "05126" "00221089" "05126" "00222200" "05126" "00222445" "05126" "00222468" "05126" "00222519" "05126" "00265473" "05126" "00294585" "00198" "00294586" "00198" "00294587" "00198" "00294588" "00198" "00294589" "00198" "00294590" "00198" "00294591" "00198" "00296398" "00198" "00299701" "00198" "00305181" "00198" "00305182" "00198" "00305183" "00198" "00305525" "05611" "00305792" "05126" "00305871" "05126" "00316025" "00198" "00388639" "00244" "00388670" "00244" "00388691" "00244" "00391933" "05324" "00391935" "05324" "00391938" "05324" "00391971" "05324" "00391980" "05324" "00391997" "05324" "00391998" "05324" "00392002" "05324" "00392015" "05324" "00392019" "05324" "00395530" "05126" "00399093" "05618" "00408289" "01775" "00408290" "03093" "00408291" "01266" "00408292" "02335" "00408293" "02335" "00408294" "02335" "00430471" "05618" "00430473" "05618" "00436847" "00198" "00436848" "00198" "00438549" "05121" "00438551" "05121" "00442676" "05618" "00446848" "04173" "00454537" "05121" "00454538" "05121" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00244, 01266, 01313, 01775, 02335, 03093, 03406, 04173, 04327, 04614, 05121, 05126, 05324, 05328, 05611, 05618 ## Count = 96 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000037052" "00198" "00050440" "00006" "Unknown" "" "severe muscular hypotonia, myopathy" "" "" "" "" "" "" "" "" "" "" "" "0000094144" "05328" "00119121" "02240" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000118847" "05121" "00146108" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LGMD-2Q" "" "" "0000139612" "05126" "00174785" "00006" "Familial, autosomal recessive" "76y" "onset overt symptoms adolescence; CPK raised 7x; waddling gait from adolescence; myalgia and progression of lower limb weakness after upper respiratory tract infection in 8th decade; cardiac arrhythmias; diffuse muscle atrophy, hyperlordosis; waddling gait" "" "" "" "" "" "" "" "" "" "limb-girdle muscular dystrophy" "" "0000139627" "05126" "00174800" "00006" "Familial, autosomal recessive" "15y" "onset overt symptoms adolescence; CPK raised 27x; limb-girdle weakness; generalized muscle atrophy, scapular winging; ambulation preserved" "" "" "" "" "" "" "" "" "" "limb-girdle muscular dystrophy" "" "0000157419" "00198" "00208808" "01164" "Unknown" "" "HP:0012638 (Abnormality of nervous system physiology); HP:0100543 (Cognitive impairment); HP:0011446 (Abnormality of higher mental function); HP:0001288 (Gait disturbance); HP:0001324 (Muscle weakness)" "" "" "" "" "" "" "" "" "" "" "" "0000157520" "00198" "00208912" "01164" "Unknown" "" "HP:0011804 (Abnormality of muscle physiology); HP:0001324 (Muscle weakness); HP:0003198 (Myopathy)" "" "" "" "" "" "" "" "" "" "" "" "0000158750" "00198" "00210178" "01164" "Unknown" "" "HP:0030319 (Weakness of facial musculature); HP:0012373 (Abnormal eye physiology); HP:0000301 (Abnormality of facial musculature); HP:0000508 (Ptosis)" "" "" "" "" "" "" "" "" "" "" "" "0000161633" "05126" "00213158" "00006" "Isolated (sporadic)" "" "progressive muscle weakness, deceased" "" "" "" "" "" "" "" "" "LGMD2O" "limb-girdle muscular dystrophy" "" "0000161634" "05126" "00213159" "00006" "Isolated (sporadic)" "" "progressive muscle weakness, deceased" "" "" "" "" "" "" "" "" "LGMD2O" "limb-girdle muscular dystrophy" "" "0000161635" "05126" "00213160" "00006" "Isolated (sporadic)" "" "early-onset limb-girdle muscle symptoms; 36y-bedridden, near-total muscle atrophy, evident multiple contractures; wheelchair bound 24y" "" "" "" "" "" "" "" "" "LGMD2O" "limb-girdle muscular dystrophy" "" "0000161636" "05126" "00213161" "00006" "Isolated (sporadic)" "" "3y-delayed independent walking, later additional signs of weakness (occasional falls, difficulty climbing stairs); 14y-progressive weakness; 19y-prolonged Gower\'s sign, generalized muscle weakness, unable to jump, walked with increased lumbar lordosis, no muscle hypertrophy, ECG normal, EMG myopathic; muscle biopsy dystrophic features (variation fiber size, internal nuclei, scattered basophilic/few necrotic fibers, mild endomysial fibrosis; CPK 5584; no intellectual disability" "" "" "" "IHC PLEC strong sarcoplasmic, no sarcolemmal staining; IHC LAMA2, DMD, SGCA/B/G/D, DAG normal" "" "" "" "" "LGMD2O" "limb-girdle muscular dystrophy" "" "0000161637" "05126" "00213162" "00006" "Isolated (sporadic)" "" "4y-lordotic gait, Gower\'s sign, normal mental/fine-motor developmental milestones, muscle biopsy dystrophic changes; CPK 4159" "2y" "" "muscle weakness" "IHC LAMA2, DMD, SGCA/B/G/D normal" "" "" "" "" "LGMD2O" "limb-girdle muscular dystrophy" "" "0000161638" "05126" "00213163" "00006" "Isolated (sporadic)" "" "5y-weakness early childhood, difficulty climbing stairs, behind peers in running, Gower\'s sign, muslce not hypertrophic, muscle biopsy dystrophic changes; walk-2.5y; CPK 3704" "" "" "" "IHC LAMA2, DMD, SGCA/B/G/D normal" "" "" "" "" "LGMD2O" "limb-girdle muscular dystrophy" "" "0000161639" "00198" "00213164" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161640" "00198" "00213165" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161641" "00198" "00213166" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161642" "00198" "00213167" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161643" "00198" "00213168" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161644" "00198" "00213169" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161645" "00198" "00213170" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161646" "00198" "00213171" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161647" "00198" "00213172" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161648" "00198" "00213173" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161649" "00198" "00213174" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161650" "00198" "00213175" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161651" "00198" "00213176" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161652" "00198" "00213177" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161653" "00198" "00213178" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161654" "00198" "00213179" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161655" "00198" "00213180" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161656" "00198" "00213181" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161657" "00198" "00213182" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161658" "00198" "00213183" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161659" "00198" "00213184" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161660" "00198" "00213185" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161661" "00198" "00213186" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161662" "00198" "00213187" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161663" "00198" "00213188" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161664" "00198" "00213189" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161665" "00198" "00213190" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161666" "00198" "00213191" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161667" "00198" "00213192" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161668" "00198" "00213193" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161669" "00198" "00213194" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161670" "00198" "00213195" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161671" "00198" "00213196" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161672" "00198" "00213197" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161673" "00198" "00213198" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161674" "00198" "00213199" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161675" "00198" "00213200" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161676" "00198" "00213201" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161677" "00198" "00213202" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161678" "00198" "00213203" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161679" "00198" "00213204" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161680" "00198" "00213205" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161681" "00198" "00213206" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161682" "05126" "00213207" "01715" "Familial, autosomal recessive" "" "ptosis, ophthalmoparesis" "2y" "" "" "" "" "" "" "" "LGMD2Q" "limb-girdle muscular dystrophy" "" "0000203270" "05126" "00265473" "00006" "Familial, autosomal recessive" "62y" "primary clinical diagnosis of FSHD" "" "" "" "" "" "" "" "" "" "FSHD" "" "0000223812" "00198" "00296398" "01164" "Unknown" "" "Facial palsy (HP:0010628); Muscular hypotonia (HP:0001252); Motor delay (HP:0001270)" "" "" "" "" "" "" "" "" "" "" "" "0000227006" "00198" "00299701" "01164" "Unknown" "" "Abnormality of muscle physiology (HP:0011804); Abnormality of nervous system physiology (HP:0012638); Muscle weakness (HP:0001324); Fatigable weakness (HP:0003473); Hearing abnormality (HP:0000364); Hearing impairment (HP:0000365)" "" "" "" "" "" "" "" "" "" "" "" "0000231374" "05611" "00305525" "00006" "Isolated (sporadic)" "1d" "birth 38+1w, weight 2590 (normal), OFC 34 (normal); 1d-deceased (respiratory failure)y; facial abnormalities; L ventriculomegaly + persistent ductus botalli; Flat and hypoplastic labia majora; Hepatomegaly, nonspecific, small solid liver lesion (L), echogenic, possible fatty pancreas, possible adrenal mass or hemorrhage R ; Deceased on first day of life due to respiratory failure, small lungs; Artrogryposis, gracile, elongated long bones and multiple fractures. Dislocated hips with deep dimples on lateral aspects; Naevus flammeus (nose/eyelids). Hypertrichosis extremities. Lower leg skin indentation suggestive of cord wrapping. Nails normal.; Small hands, tapered fingers, camptodactyly. Absent palmar creases R, thumb adducted R. 5th finger distal phalanges hypoplastic. Small feet, bilaterally deformed, probable L club foot. Toes small and flexion contractures.; Maternal chlamydia infection GA 10 weeks; MRI-brain no holoprosencephaly, Slight ventriculomegaly" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000231638" "05126" "00305792" "00006" "Unknown" "27y" "mild (MRC grade ≥4/5); lower limbs more severe than upper limbs; elevated serum CK (max. 5371 IU/L); biopsy myopathic; non-rimmed vacuole; 　" "3y" "" "" "" "" "" "" "" "" "limb-girdle muscular dystrophy" "" "0000231717" "05126" "00305871" "00006" "Unknown" "52y" "severe (MRC grade <3/5); upper limbs more severe than lower limbs; neck flexor weakness (HP:0003722); elevated serum CK (max. 2270 IU/L); biopsy dystrophic; inflammation" "42y" "" "" "IHC DMD absent/reduced, SGC absent/reduced" "" "" "" "" "" "limb-girdle muscular dystrophy" "" "0000239770" "00198" "00316025" "00006" "Familial, autosomal recessive" "14y" "see paper; ..., fetal reduced movements, breech presentation; birth moderate to severe congenital hypotonia, weak cry, thin muscle build, talipes, tube fed first 12 days, ongoing difficulties with suck during infancy but able to bottle feed; mild facial weakness, high arched palate, elongated face, neck flexion and axial weakness; limb weakness PUL ++, DUL +, PLL +++, DLL ++, weakest muscle groups neck flexors, axial muscles, hip extensors, abductors; generalized muscle atrophy most marked in shoulders; 2y-oromotor difficulties resolved; 2y-hip, knee and Achilles tendon contractures; delayed motor milestones, walk2y9m, jump-3-4y, run-3-4y (slowly); childhood: frequent falls, positive Gowers’ sign, ongoing improvements in strength and motor skills over time14y-still ambulant (500 m) with slow waddling gait, 4y-uses splints, K-walker and manual wheelchair for longer distances; 3y9m-mild ophthalmoplegia (upgaze weakness) noted, large asymmetrical dolichocephalic head shape, frontal bossing, micrognathia; 2y-scoliosis, spinal rigidity; 12y-spinal fusion for scoliosis; 6y-BIPAP required, 13y10m FVC 0.44; pes planus childhood; height initially 50th percentile fell to 2–10th percentile 13y10m (in part due to scoliosis); hypermobility; mild asymmetrical pectus excavatum; 12y-short-lived episodic weakness during febrile illnesses, post-exercise and on hot days; 13y-activity-limiting increase in fatigability, fatigues quickly with walking and writing; improved strength endurance with regular oral salbutamol" "" "" "" "" "" "" "" "" "" "congenital myopathy" "" "0000282179" "00244" "00388639" "00006" "Familial, autosomal recessive" "27y" "distal muscle weakness, proximal muscle weakness; CK level 587 IU/L; Rimmed vacuoles in muscle biopsies histochemistry; tripping on small objects, foot drop and sparing of quadriceps; most-affected muscles: Tibialis anterior, iliopsoas, adductors of thigh, hamstrings, and biceps brachi and first dorsal interosseous muscles; no cardiac involvement; 27y-ambulant" "23y" "" "" "" "" "" "" "" "" "" "" "0000282210" "00244" "00388670" "00006" "Familial, autosomal dominant" "11y" "proximal muscle weakness; CK level 791 IU/L; Tripping and toe walking, Winging of scapula, wrist and ankle contractures; Most-affected muscles: Biceps brachii, ankle dorsiflexors; no cardiac involvement; 11y-ambulant" "04y" "" "" "" "" "" "" "" "" "" "" "0000282231" "00244" "00388691" "00006" "Familial, autosomal recessive" "24y" "proximal muscle weakness; CK level 10500 IU/L; Difficulty running, change in gait, wasting of calves, biceps lump; Most-affected muscles: Gastrocnemius, Iliopsoas, hip adductors, hamstrings and quadriceps; no cardiac involvement; 24y-ambulant" "19y" "" "" "IHC no DYSF" "" "" "" "" "" "" "" "0000285223" "05324" "00391933" "03501" "Unknown" "7y" "calf muscle hypertrophy (HP:0008981), Gowers sign (HP:0003391), frequent falls (HP:0002359)" "6y" "" "" "" "" "" "" "" "muscular dystrophy" "DMD" "" "0000285225" "05324" "00391935" "03501" "Unknown" "9y" "Gowers sign (HP:0003391), difficulty climbing stairs (HP:0003551)" "3y" "" "" "" "" "" "" "" "muscular dystrophy" "DMD" "" "0000285228" "05324" "00391938" "03501" "Unknown" "2y" "Gowers sign (HP:0003391), frequent falls (HP:0002359), difficulty climbing stairs (HP:0003551)" "1d" "" "" "" "" "" "" "" "muscular dystrophy" "DMD" "" "0000285261" "05324" "00391971" "03501" "Unknown" "9y" "delayed fine motor development (HP:0010862), calf muscle hypertrophy (HP:0008981), Gowers sign (HP:0003391), frequent falls (HP:0002359), difficulty climbing stairs (HP:0003551), difficulty walking (HP:0002355), waddling gait (HP:0002515), toe walking (HP:0040083)" "3y" "" "" "" "" "" "" "" "muscular dystrophy" "DMD" "" "0000285270" "05324" "00391980" "03501" "Unknown" "10y" "calf muscle hypertrophy (HP:0008981), Gowers sign (HP:0003391), frequent falls (HP:0002359), difficulty climbing stairs (HP:0003551), difficulty walking (HP:0002355), waddling gait (HP:0002515), proximal muscle weakness (HP:0003701)" "5y" "" "" "" "" "" "" "" "muscular dystrophy" "DMD" "" "0000285287" "05324" "00391997" "03501" "Unknown" "21y" "calf muscle hypertrophy (HP:0008981), Gowers sign (HP:0003391), frequent falls (HP:0002359), difficulty climbing stairs (HP:0003551), difficulty walking (HP:0002355), waddling gait (HP:0002515), proximal muscle weakness (HP:0003701), toe walking (HP:0040083)" "06y" "12y" "" "" "" "" "" "" "muscular dystrophy" "DMD" "" "0000285288" "05324" "00391998" "03501" "Unknown" "3y" "delayed fine motor development (HP:0010862), calf muscle hypertrophy (HP:0008981), Gowers sign (HP:0003391), frequent falls (HP:0002359), difficulty climbing stairs (HP:0003551), difficulty walking (HP:0002355), waddling gait (HP:0002515), proximal muscle weakness (HP:0003701)" "2y" "" "" "" "" "" "" "" "muscular dystrophy" "DMD" "" "0000285292" "05324" "00392002" "03501" "Unknown" "7y" "Gowers sign (HP:0003391), frequent falls (HP:0002359), difficulty climbing stairs (HP:0003551), difficulty walking (HP:0002355), proximal muscle weakness (HP:0003701), toe walking (HP:0040083)" "4y" "" "" "" "" "" "" "" "muscular dystrophy" "DMD" "" "0000285305" "05324" "00392015" "03501" "Unknown" "8y" "delayed fine motor development (HP:0010862), calf muscle hypertrophy (HP:0008981), Gowers sign (HP:0003391), frequent falls (HP:0002359), difficulty climbing stairs (HP:0003551), difficulty walking (HP:0002355), waddling gait (HP:0002515), proximal muscle weakness (HP:0003701)" "6m" "" "" "" "" "" "" "" "muscular dystrophy" "DMD" "" "0000285309" "05324" "00392019" "03501" "Unknown" "5y" "calf muscle hypertrophy (HP:0008981), Gowers sign (HP:0003391), frequent falls (HP:0002359), difficulty climbing stairs (HP:0003551), difficulty walking (HP:0002355), waddling gait (HP:0002515), proximal muscle weakness (HP:0003701)" "" "" "" "" "" "" "" "" "muscular dystrophy" "DMD" "" "0000288729" "05126" "00395530" "00006" "Familial, autosomal recessive" "29y" "initial proximal weakness, no calf hypertrophy, no calf atrophystill ambulant, no cardiac involvement, pulmonary involvement, 6y-CK level 513 IU/L" "3y" "" "" "" "" "" "" "" "LGMD2Q" "limb-girdle muscular dystrophy" "" "0000292181" "05618" "00399093" "00006" "Unknown" "" "serum CK 2700 U/L; muscle biopsy dystrophic pattern; limb-girdle muscle weakness, plectinopathy, epidermolysis bullosa simplex" "12y" "" "" "" "" "" "" "" "" "neuromuscular disorder" "" "0000300414" "01775" "00408289" "04295" "Familial, autosomal recessive" "15y" "Cutaneous: skin blistering, nail dystrophy, alopecia\r\nOropharyngeal: enamel hypoplasia, hoarseness, recurrent choking, required laryngotomy at age 7 due to ulcer in larynx\r\nMusculoskeletal: Proximal muscle weakness: 4 out of 5, distal muscle weakness: 4 out of 5, ptosis (left worse than right)\r\nRespiratory: admissions due to respiratory problems\r\nCardiac: None" "" "" "" "" "" "" "" "" "" "" "" "0000300415" "03093" "00408290" "04295" "Familial, autosomal recessive" "" "Cutaneous: hemorrhagic blistering\r\nGastrointestinal: Pyloric Atresia, Abdominal distension" "" "" "" "" "" "" "" "" "" "" "" "0000300417" "01266" "00408291" "04295" "Familial, autosomal recessive" "" "Cutaneous: skin blistering\r\nOropharyngeal: dental caries, hoarseness\r\nMusculoskeletal: Proximal muscle weakness: 4 out of 5, distal muscle weakness: 4 out of 5, ptosis, lower limbs spasticity, severe motor delay: sitting at age 2.5, speech delay" "" "" "" "" "" "" "" "" "" "" "" "0000300419" "02335" "00408292" "04295" "Familial, autosomal recessive" "" "Cutaneous: hemorrhagic blistering\r\nOropharyngeal: hoarseness\r\nRespiratory: recurrent pulmonary infection" "" "" "" "" "" "" "" "" "" "" "" "0000300420" "02335" "00408293" "04295" "Familial, autosomal recessive" "" "Cutaneous: hemorrhagic blistering, nail dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000300421" "02335" "00408294" "04295" "Familial, autosomal recessive" "" "Cutaneous: hemorrhagic blistering" "" "" "" "" "" "" "" "" "" "" "" "0000321268" "05618" "00430471" "00006" "Unknown" "2y" "muscle weakness" "" "" "" "" "" "" "" "" "" "neuromuscular disorder" "" "0000321270" "05618" "00430473" "00006" "Unknown" "2y" "hyperCKemia, hypomyelination on MRI, neuromotor developmental delay" "" "" "" "" "" "" "" "" "" "neuromuscular disorder" "" "0000326929" "00198" "00436847" "00006" "Unknown" "" "elevated CK (4,890 ng/ml), shoulder dystocia" "" "" "" "" "" "" "" "" "" "elevated CK-MM" "" "0000326930" "00198" "00436848" "00006" "Unknown" "" "delivery C-section, breech, elevated CK (4,310 ng/ml)" "" "" "" "" "" "" "" "" "" "elevated CK-MM" "" "0000328452" "05121" "00438549" "00006" "Unknown" "2y" "muscle weakness" "" "" "" "" "" "" "" "" "" "muscular dystrophy/myopathy" "" "0000328454" "05121" "00438551" "00006" "Unknown" "2y" "hyperCKemia, hypomyelination on mri, neuromotor developmental delay" "" "" "" "" "" "" "" "" "" "muscular dystrophy/myopathy" "" "0000332023" "05618" "00442676" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Opthalmoplegia, ptosis, muscular dystrophy" "" "0000336052" "04173" "00446848" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular hypertrabeculation" "" "0000343192" "05121" "00454537" "00006" "Familial, autosomal recessive" "" "Abnormal walking posture; no Gowers\' sign; no hypertrophy gastrocnemius; limb muscle force 5; 10m walk 5.97 sec; elevated serum CK level (1121 U/L); no family history" "3y" "" "" "" "" "" "" "" "LGMD2Q" "BMD/DMD" "" "0000343193" "05121" "00454538" "00006" "Familial, autosomal recessive" "" "Easy to fall; positive Gowers\' sign; hypertrophy gastrocnemius; limb muscle force 4; 10m walk 5.5 sec; elevated serum CK level (2408 U/L); ECG normal; no family history" "1y6m" "" "" "" "" "" "" "" "LGMD2Q" "BMD/DMD" "" ## Screenings ## Do not remove or alter this header ## ## Count = 213 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050385" "00050440" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000119590" "00119121" "1" "02240" "02240" "2017-09-08 10:43:19" "" "" "PCR" "DNA" "" "" "0000146964" "00146108" "1" "00006" "00006" "2017-12-24 21:41:36" "" "" "SEQ" "DNA" "" "" "0000175676" "00174785" "1" "00006" "00006" "2018-08-10 19:10:48" "" "" "SEQ-NG" "DNA" "" "WES" "0000175691" "00174800" "1" "00006" "00006" "2018-08-10 19:10:48" "" "" "SEQ-NG" "DNA" "" "WES" "0000208997" "00207952" "1" "01164" "01164" "2018-12-04 16:43:50" "" "" "SEQ-NG" "DNA" "" "" "0000209857" "00208808" "1" "01164" "01164" "2018-12-17 10:13:44" "" "" "SEQ-NG" "DNA" "" "" "0000209967" "00208912" "1" "01164" "01164" "2018-12-20 13:06:23" "" "" "SEQ-NG" "DNA" "" "" "0000211254" "00210178" "1" "01164" "01164" "2018-12-27 15:49:30" "" "" "SEQ-NG" "DNA" "" "" "0000214228" "00213158" "1" "00006" "00006" "2010-12-12 22:17:00" "00006" "2012-03-09 19:02:29" "SEQ" "DNA" "" "" "0000214229" "00213159" "1" "00006" "00006" "2010-12-12 22:17:00" "00006" "2012-03-09 19:02:29" "SEQ" "DNA" "" "" "0000214230" "00213160" "1" "00006" "00006" "2010-12-12 22:17:00" "00006" "2012-03-09 19:02:29" "SEQ" "DNA" "" "" "0000214231" "00213161" "1" "00006" "00006" "2010-12-12 22:17:00" "00006" "2012-03-09 19:02:29" "SEQ" "DNA" "" "" "0000214232" "00213162" "1" "00006" "00006" "2010-12-12 22:17:00" "00006" "2012-03-09 19:02:29" "SEQ" "DNA" "" "" "0000214233" "00213163" "1" "00006" "00006" "2010-12-12 22:17:00" "00006" "2012-03-10 10:42:51" "SEQ" "DNA" "" "" "0000214234" "00213164" "1" "00430" "00006" "2012-10-26 14:47:57" "" "" "SEQ" "DNA" "" "" "0000214235" "00213165" "1" "00430" "00006" "2012-10-26 14:47:57" "" "" "SEQ" "DNA" "" "" "0000214236" "00213166" "1" "00430" "00006" "2012-10-26 14:47:57" "" "" "SEQ" "DNA" "" "" "0000214237" "00213167" "1" "00430" "00006" "2012-10-26 14:47:57" "" "" "SEQ" "DNA" "" "" "0000214238" "00213168" "1" "00430" "00006" "2012-10-26 14:47:57" "" "" "SEQ" "DNA" "" "" "0000214239" "00213169" "1" "00430" 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"2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221429" "00220358" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221430" "00220359" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221441" "00220370" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221442" "00220371" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221446" "00220375" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221465" "00220394" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221467" "00220396" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221469" "00220398" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221476" "00220405" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221480" "00220409" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221518" "00220447" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221556" "00220485" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221566" "00220495" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221652" "00220581" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221898" "00220827" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221899" "00220828" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221912" "00220841" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221916" "00220845" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221920" "00220849" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222160" "00221089" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223271" "00222200" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223516" "00222445" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223539" "00222468" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223590" "00222519" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000266596" "00265473" "1" "00006" "00006" "2019-09-26 11:09:23" "" "" "SEQ;SEQ-NG" "DNA" "" "LGMD gene panel" "0000295753" "00294585" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295754" "00294586" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295755" "00294587" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295756" "00294588" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295757" "00294589" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295758" "00294590" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295759" "00294591" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297509" "00296398" "1" "01164" "01164" "2020-04-06 09:48:16" "" "" "SEQ-NG-S" "DNA" "" "" "0000300811" "00299701" "1" "01164" "01164" "2020-04-20 10:37:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000306310" "00305181" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306311" "00305182" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306312" "00305183" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306654" "00305525" "1" "00006" "00006" "2020-06-28 10:52:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000306922" "00305792" "1" "00006" "00006" "2020-07-02 12:45:49" "" "" "SEQ;SEQ-NG" "DNA" "" "candidate 420-gene panel" "0000307001" "00305871" "1" "00006" "00006" "2020-07-02 12:45:49" "" "" "SEQ;SEQ-NG" "DNA" "" "candidate 420-gene panel" "0000317207" "00316025" "1" "00006" "00006" "2020-11-01 16:34:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000389881" "00388639" "1" "00006" "00006" "2021-11-04 20:51:09" "" "" "SEQ-NG" "DNA" "" "WES" "0000389912" "00388670" "1" "00006" "00006" "2021-11-04 20:51:09" "" "" "SEQ-NG" "DNA" "" "WES" "0000389933" "00388691" "1" "00006" "00006" "2021-11-04 20:51:09" "" "" "SEQ-NG" "DNA" "" "WES" "0000393175" "00391933" "1" "03501" "00006" "2021-11-19 15:49:45" "" "" "SEQ-NG" "DNA" "" "screened DMD, PLEC, COL6A1, COL6A2, COL6A3, CAPN3, DYSF, FLNC, LAMA2, SGCA, SGCD, SGCG, SGCB, SYNE1" "0000393177" "00391935" "1" "03501" "00006" "2021-11-19 15:49:45" "" "" "SEQ-NG" "DNA" "" "screened DMD, LAMA2, PLEC, PLEC, COL6A1, COL6A2, COL6A3, CAPN3, DYSF, FLNC, LAMA2, SGCA, SGCD, SGCG, SGCB, SYNE1" "0000393180" "00391938" "1" "03501" "00006" "2021-11-19 15:49:45" "" "" "SEQ-NG" "DNA" "" "screened DMD, LAMA2, LAMA2, PLEC, PLEC, COL6A1, COL6A2, COL6A3, CAPN3, DYSF, FLNC, SGCB, SGCA, SGCD, SGCG, SYNE1" "0000393213" "00391971" "1" "03501" "00006" "2021-11-19 15:49:45" "" "" "SEQ-NG" "DNA" "" "screened DMD, PLEC, PLEC, DYSF, COL6A1, COL6A2, COL6A3, CAPN3, DYSF, FLNC, LAMA2, SGCA, SGCD, SGCG, PLEC, SYNE1" "0000393222" "00391980" "1" "03501" "00006" "2021-11-19 15:49:45" "" "" "SEQ-NG" "DNA" "" "screened DMD, SGCB, PLEC, COL6A1, COL6A2, COL6A3, CAPN3, DYSF, FLNC, LAMA2, SGCA, SGCD, SGCG, PLEC, SYNE1" "0000393239" "00391997" "1" "03501" "00006" "2021-11-19 15:49:45" "" "" "SEQ-NG" "DNA" "" "screened DMD, PLEC, LAMA2" "0000393240" "00391998" "1" "03501" "00006" "2021-11-19 15:49:45" "" "" "SEQ-NG" "DNA" "" "screened DMD, PLEC, PLEC" "0000393244" "00392002" "1" "03501" "00006" "2021-11-19 15:49:45" "" "" "SEQ-NG" "DNA" "" "screened DMD, PLEC, PLEC, PLEC" "0000393257" "00392015" "1" "03501" "00006" "2021-11-19 15:49:45" "" "" "SEQ-NG" "DNA" "" "screened DMD, CAPN3, PLEC, PLEC" "0000393261" "00392019" "1" "03501" "00006" "2021-11-19 15:49:45" "" "" "SEQ-NG" "DNA" "" "screened DMD, PLEC, PLEC, DYSF" "0000396768" "00395530" "1" "00006" "00006" "2021-12-06 20:03:57" "" "" "SEQ;SEQ-NG" "DNA" "" "247-gene panel" "0000400338" "00399093" "1" "00006" "00006" "2022-01-15 16:40:49" "" "" "SEQ;SEQ-NG" "DNA" "" "166-gene panel" "0000409545" "00408289" "1" "04295" "04295" "2022-04-19 21:20:18" "" "" "?" "DNA" "" "" "0000409547" "00408290" "1" "04295" "04295" "2022-04-19 21:32:31" "" "" "?" "DNA" "" "" "0000409548" "00408291" "1" "04295" "04295" "2022-04-19 21:44:45" "" "" "?" "DNA" "" "" "0000409549" "00408292" "1" "04295" "04295" "2022-04-19 21:49:43" "" "" "?" "DNA" "" "" "0000409550" "00408293" "1" "04295" "04295" "2022-04-19 21:56:09" "" "" "?" "DNA" "" "" "0000409551" "00408294" "1" "04295" "04295" "2022-04-19 22:00:05" "" "" "?" "DNA" "" "" "0000431880" "00430471" "1" "00006" "00006" "2023-01-20 11:39:52" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000431882" "00430473" "1" "00006" "00006" "2023-01-20 11:39:52" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000438329" "00436847" "1" "00006" "00006" "2023-10-11 15:39:56" "" "" "SEQ" "DNA" "" "gene panel" "0000438330" "00436848" "1" "00006" "00006" "2023-10-11 15:42:51" "" "" "SEQ" "DNA" "" "gene panel" "0000440031" "00438549" "1" "00006" "00006" "2023-10-21 14:47:26" "" "" "SEQ;SEQ-NG" "DNA" "" "47-gene panel" "0000440033" "00438551" "1" "00006" "00006" "2023-10-21 14:47:26" "" "" "SEQ;SEQ-NG" "DNA" "" "47-gene panel" "0000444160" "00442676" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000448423" "00446848" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000456150" "00454537" "1" "00006" "00006" "2024-09-13 17:19:08" "" "" "MLPA;SEQ-NG" "DNA" "" "" "0000456151" "00454538" "1" "00006" "00006" "2024-09-13 17:19:08" "" "" "MLPA;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 66 "{{screeningid}}" "{{geneid}}" "0000050385" "PLEC" "0000119590" "PLEC" "0000146964" "DMD" "0000146964" "PLEC" "0000214228" "PLEC" "0000214229" "PLEC" "0000214230" "PLEC" "0000214231" "PLEC" "0000214232" "PLEC" "0000214233" "PLEC" "0000214234" "PLEC" "0000214235" "PLEC" "0000214236" "PLEC" "0000214237" "PLEC" "0000214238" "PLEC" "0000214239" "PLEC" "0000214240" "PLEC" "0000214241" "PLEC" "0000214242" "PLEC" "0000214243" "PLEC" "0000214244" "PLEC" "0000214245" "PLEC" "0000214246" "PLEC" "0000214247" "PLEC" "0000214248" "PLEC" "0000214249" "PLEC" "0000214250" "PLEC" "0000214251" "PLEC" "0000214252" "PLEC" "0000214253" "PLEC" "0000214254" "PLEC" "0000214255" "PLEC" "0000214256" "PLEC" "0000214257" "PLEC" "0000214258" "PLEC" "0000214259" "PLEC" "0000214260" "PLEC" "0000214261" "PLEC" "0000214262" "PLEC" "0000214263" "PLEC" "0000214264" "PLEC" "0000214265" "PLEC" "0000214266" "PLEC" "0000214267" "PLEC" "0000214268" "PLEC" "0000214269" "PLEC" "0000214270" "PLEC" "0000214271" "PLEC" "0000214272" "PLEC" "0000214273" "PLEC" "0000214274" "PLEC" "0000214275" "PLEC" "0000214276" "PLEC" "0000214277" "PLEC" "0000266596" "PLEC" "0000306654" "CNOT1" "0000306922" "PLEC" "0000307001" "PLEC" "0000317207" "SCN4A" "0000396768" "PLEC" "0000409545" "PLEC" "0000409547" "PLEC" "0000409548" "PLEC" "0000409549" "PLEC" "0000409550" "PLEC" "0000409551" "PLEC" ## 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 = 1089 "{{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}}" "0000079365" "11" "90" "8" "144990697" "144990697" "subst" "0" "00006" "PLEC_000051" "g.144990697T>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.143916529T>A" "" "pathogenic" "" "0000079655" "21" "90" "8" "144996236" "144996236" "subst" "0.000938908" "00006" "PLEC_000052" "g.144996236C>G" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.143922068C>G" "" "pathogenic" "" "0000195714" "21" "70" "8" "145005825" "145005827" "del" "0" "02240" "PLEC_000054" "g.145005825_145005827del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.143931657_143931659del" "" "likely pathogenic" "" "0000195715" "11" "70" "8" "144994876" "144994876" "dup" "0" "02240" "PLEC_000053" "g.144994876dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.143920708dup" "" "likely pathogenic" "" "0000239641" "1" "90" "8" "144998183" "144998183" "subst" "0" "00006" "PLEC_000055" "g.144998183G>A" "" "{PMID:Zhong 2017:27750387}" "" "" "" "Germline" "" "" "0" "" "" "g.143924015G>A" "" "pathogenic" "" "0000239642" "2" "90" "8" "144994130" "144994130" "subst" "0" "00006" "PLEC_000000" "g.144994130A>T" "" "{PMID:Zhong 2017:27750387}" "" "" "variant not possible for NM_000445.3\r\nVariant Error [EREF/EUNCERTAIN]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000246684" "0" "10" "8" "144990528" "144990528" "subst" "0.4031" "02330" "PLEC_000042" "g.144990528A>G" "" "" "" "PLEC(NM_201380.4):c.13872T>C (p.A4624=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143916360A>G" "" "benign" "" "0000246685" "0" "10" "8" "144992862" "144992862" "subst" "0.397553" "02330" "PLEC_000038" "g.144992862A>G" "" "" "" "PLEC(NM_201380.4):c.11538T>C (p.A3846=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143918694A>G" "" "benign" "" "0000246686" "0" "10" "8" "144993377" "144993377" "subst" "0.405162" "02330" "PLEC_000036" "g.144993377A>G" "" "" "" "PLEC(NM_201380.4):c.11023T>C (p.L3675=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143919209A>G" "" "benign" "" "0000246687" "0" "10" "8" "144999642" "144999642" "subst" "0.333482" "02330" "PLEC_000019" "g.144999642A>C" "" "" "" "PLEC(NM_201380.4):c.4866T>G (p.A1622=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143925474A>C" "" "benign" "" "0000246688" "0" "10" "8" "144999684" "144999684" "subst" "0.331596" "02330" "PLEC_000018" "g.144999684A>G" "" "" "" "PLEC(NM_201380.4):c.4824T>C (p.A1608=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143925516A>G" "" "benign" "" "0000246689" "0" "10" "8" "145001784" "145001784" "subst" "0.332198" "02330" "PLEC_000013" "g.145001784A>G" "" "" "" "PLEC(NM_201380.4):c.3961T>C (p.L1321=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143927616A>G" "" "benign" "" "0000246690" "0" "10" "8" "145008560" "145008560" "subst" "0.331367" "02330" "PLEC_000005" "g.145008560A>G" "" "" "" "PLEC(NM_201380.4):c.1506T>C (p.D502=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143934392A>G" "" "benign" "" "0000246691" "0" "10" "8" "145011204" "145011204" "subst" "0.331948" "02330" "PLEC_000003" "g.145011204A>G" "" "" "" "PLEC(NM_201380.4):c.789T>C (p.A263=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143937036A>G" "" "benign" "" "0000246710" "0" "10" "8" "144996029" "144996029" "subst" "0.398204" "02330" "PLEC_000030" "g.144996029A>G" "" "" "" "PLEC(NM_201380.4):c.8371T>C (p.S2791P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143921861A>G" "" "benign" "" "0000248602" "0" "10" "8" "145011204" "145011204" "subst" "0.00234033" "02325" "PLEC_000218" "g.145011204A>C" "" "" "" "PLEC(NM_201380.3):c.789T>G (p.A263=), PLEC(NM_201380.4):c.789T>G (p.A263=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143937036A>C" "" "benign" "" "0000252731" "0" "50" "8" "145007133" "145007133" "subst" "4.11157E-6" "02326" "PLEC_000205" "g.145007133A>G" "" "" "" "PLEC(NM_201380.4):c.1976T>C (p.L659P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143932965A>G" "" "VUS" "" "0000255075" "0" "30" "8" "144995664" "144995664" "subst" "2.04197E-5" "01943" "PLEC_000088" "g.144995664A>G" "" "" "" "PLEC(NM_201380.3):c.8736T>C (p.T2912=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143921496A>G" "" "likely benign" "" "0000255132" "0" "30" "8" "144993621" "144993621" "subst" "9.77796E-5" "01943" "PLEC_000071" "g.144993621A>T" "" "" "" "PLEC(NM_201380.3):c.10779T>A (p.V3593=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143919453A>T" "" "likely benign" "" "0000293875" "0" "10" "8" "144990335" "144990335" "subst" "0.34711" "02330" "PLEC_000043" "g.144990335G>A" "" "" "" "PLEC(NM_201380.4):c.*10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143916167G>A" "" "benign" "" "0000293876" "0" "10" "8" "144993324" "144993324" "subst" "0.345657" "02330" "PLEC_000037" "g.144993324C>T" "" "" "" "PLEC(NM_201380.4):c.11076G>A (p.T3692=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143919156C>T" "" "benign" "" "0000293877" "0" "30" "8" "145009356" "145009356" "subst" "0.0526374" "02330" "PLEC_000216" "g.145009356G>A" "" "" "" "PLEC(NM_000445.3):c.799+10C>T (p.(=)), PLEC(NM_201380.4):c.1129+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143935188G>A" "" "likely benign" "" "0000293878" "0" "30" "8" "145009361" "145009361" "subst" "2.03909E-5" "02330" "PLEC_000217" "g.145009361C>T" "" "" "" "PLEC(NM_000445.3):c.799+5G>A (p.?), PLEC(NM_201380.4):c.1129+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143935193C>T" "" "likely benign" "" "0000293879" "0" "10" "8" "144993069" "144993069" "subst" "0.0669026" "02330" "PLEC_000264" "g.144993069G>A" "" "" "" "PLEC(NM_201380.4):c.11331C>T (p.Y3777=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143918901G>A" "" "benign" "" "0000293880" "0" "10" "8" "144992900" "144992900" "subst" "0.0334578" "02330" "PLEC_000260" "g.144992900G>A" "" "" "" "PLEC(NM_000445.3):c.11170C>T (p.(Leu3724=)), PLEC(NM_201380.4):c.11500C>T (p.L3834=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143918732G>A" "" "benign" "" "0000293881" "0" "10" "8" "144992361" "144992361" "subst" "0.406057" "02330" "PLEC_000039" "g.144992361T>C" "" "" "" "PLEC(NM_201380.4):c.12039A>G (p.P4013=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143918193T>C" "" "benign" "" "0000293882" "0" "10" "8" "144992103" "144992103" "subst" "0.421839" "02330" "PLEC_000040" "g.144992103T>C" "" "" "" "PLEC(NM_201380.4):c.12297A>G (p.T4099=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143917935T>C" "" "benign" "" "0000293884" "0" "10" "8" "144991629" "144991629" "subst" "0.00944347" "02330" "PLEC_000252" "g.144991629C>T" "" "" "" "PLEC(NM_000445.3):c.12441G>A (p.(Pro4147=)), PLEC(NM_201380.4):c.12771G>A (p.P4257=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143917461C>T" "" "benign" "" "0000293885" "0" "10" "8" "144991428" "144991428" "subst" "0.0205976" "02330" "PLEC_000251" "g.144991428G>A" "" "" "" "PLEC(NM_000445.3):c.12642C>T (p.(=)), PLEC(NM_201380.4):c.12972C>T (p.D4324=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143917260G>A" "" "benign" "" "0000293886" "0" "50" "8" "145009036" "145009036" "subst" "0.0118427" "02330" "PLEC_000212" "g.145009036C>T" "" "" "" "PLEC(NM_000445.3):c.968G>A (p.(Arg323Gln)), PLEC(NM_201380.4):c.1298G>A (p.R433Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143934868C>T" "" "VUS" "" "0000293887" "0" "10" "8" "144991176" "144991176" "subst" "0.408168" "02330" "PLEC_000041" "g.144991176T>C" "" "" "" "PLEC(NM_201380.4):c.13224A>G (p.S4408=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143917008T>C" "" "benign" "" "0000293888" "0" "30" "8" "144990784" "144990784" "subst" "0.0148541" "02330" "PLEC_000246" "g.144990784G>A" "" "" "" "PLEC(NM_000445.3):c.13286C>T (p.(Thr4429Met)), PLEC(NM_201380.4):c.13616C>T (p.T4539M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143916616G>A" "" "likely benign" "" "0000293889" "0" "10" "8" "145007534" "145007534" "subst" "0.373174" "02330" "PLEC_000007" "g.145007534C>T" "" "" "" "PLEC(NM_201380.4):c.1675-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143933366C>T" "" "benign" "" "0000293890" "0" "10" "8" "145007187" "145007187" "subst" "0.331755" "02330" "PLEC_000008" "g.145007187G>A" "" "" "" "PLEC(NM_201380.4):c.1922C>T (p.A641V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143933019G>A" "" "benign" "" "0000293891" "0" "30" "8" "145006992" "145006992" "subst" "0.0142016" "02330" "PLEC_000202" "g.145006992C>T" "" "" "" "PLEC(NM_000445.3):c.1787G>A (p.(Arg596Gln)), PLEC(NM_201380.4):c.2117G>A (p.R706Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143932824C>T" "" "likely benign" "" "0000293892" "0" "10" "8" "145006790" "145006790" "subst" "0.352063" "02330" "PLEC_000009" "g.145006790T>C" "" "" "" "PLEC(NM_201380.4):c.2226+13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143932622T>C" "" "benign" "" "0000293894" "0" "10" "8" "145004546" "145004546" "subst" "0.714041" "02330" "PLEC_000011" "g.145004546G>A" "" "" "" "PLEC(NM_201380.4):c.2868+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143930378G>A" "" "benign" "" "0000293895" "0" "10" "8" "145024578" "145024578" "subst" "0.00768298" "02330" "PLEC_000226" "g.145024578G>A" "" "" "" "PLEC(NM_201380.2):c.297C>T (p.(Arg99=)), PLEC(NM_201380.4):c.297C>T (p.R99=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143950410G>A" "" "benign" "" "0000293896" "0" "10" "8" "145001588" "145001588" "subst" "0.3432" "02330" "PLEC_000014" "g.145001588C>T" "" "" "" "PLEC(NM_201380.4):c.4157G>A (p.R1386Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143927420C>T" "" "benign" "" "0000293897" "0" "10" "8" "145001509" "145001509" "subst" "0.343612" "02330" "PLEC_000015" "g.145001509T>C" "" "" "" "PLEC(NM_201380.4):c.4168-6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143927341T>C" "" "benign" "" "0000293898" "0" "10" "8" "145001512" "145001512" "subst" "0.0355063" "02330" "PLEC_000171" "g.145001512T>C" "" "" "" "PLEC(NM_000445.3):c.3838-9A>G (p.(=)), PLEC(NM_201380.4):c.4168-9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143927344T>C" "" "benign" "" "0000293899" "0" "10" "8" "145001267" "145001267" "subst" "0.154299" "02330" "PLEC_000169" "g.145001267G>A" "" "" "" "PLEC(NM_201380.4):c.4252-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143927099G>A" "" "benign" "" "0000293900" "0" "10" "8" "145001031" "145001031" "subst" "0.402632" "02330" "PLEC_000016" "g.145001031T>C" "" "" "" "PLEC(NM_201380.4):c.4376A>G (p.H1459R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143926863T>C" "" "benign" "" "0000293901" "0" "10" "8" "145000056" "145000056" "subst" "0.334408" "02330" "PLEC_000017" "g.145000056T>C" "" "" "" "PLEC(NM_201380.4):c.4456-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143925888T>C" "" "benign" "" "0000293902" "0" "30" "8" "144999867" "144999867" "subst" "0.000790336" "02330" "PLEC_000159" "g.144999867G>A" "" "" "" "PLEC(NM_201380.4):c.4641C>T (p.D1547=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143925699G>A" "" "likely benign" "" "0000293903" "0" "10" "8" "144999621" "144999621" "subst" "0.324097" "02330" "PLEC_000020" "g.144999621C>T" "" "" "" "PLEC(NM_201380.4):c.4887G>A (p.A1629=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143925453C>T" "" "benign" "" "0000293904" "0" "10" "8" "144999417" "144999417" "subst" "0.33413" "02330" "PLEC_000021" "g.144999417C>T" "" "" "" "PLEC(NM_201380.4):c.5091G>A (p.A1697=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143925249C>T" "" "benign" "" "0000293905" "0" "50" "8" "144999073" "144999073" "subst" "0.000619074" "02330" "PLEC_000146" "g.144999073C>T" "" "" "" "PLEC(NM_000445.3):c.5105G>A (p.(Arg1702Gln)), PLEC(NM_201380.4):c.5435G>A (p.R1812Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143924905C>T" "" "VUS" "" "0000293906" "0" "30" "8" "144998868" "144998868" "subst" "0.0385484" "02330" "PLEC_000022" "g.144998868C>T" "" "" "" "PLEC(NM_000445.3):c.5310G>A (p.(Ala1770=)), PLEC(NM_201380.4):c.5640G>A (p.A1880=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143924700C>T" "" "likely benign" "" "0000293907" "0" "30" "8" "144998514" "144998514" "subst" "0.0675735" "02330" "PLEC_000134" "g.144998514C>T" "" "" "" "PLEC(NM_201380.4):c.5994G>A (p.A1998=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143924346C>T" "" "likely benign" "" "0000293908" "0" "10" "8" "144998169" "144998169" "subst" "0.338706" "02330" "PLEC_000024" "g.144998169C>T" "" "" "" "PLEC(NM_201380.4):c.6339G>A (p.A2113=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143924001C>T" "" "benign" "" "0000293910" "0" "10" "8" "144997927" "144997927" "subst" "0.343725" "02330" "PLEC_000025" "g.144997927G>A" "" "" "" "PLEC(NM_201380.4):c.6581C>T (p.A2194V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143923759G>A" "" "benign" "" "0000293911" "0" "30" "8" "144997783" "144997783" "subst" "0.067619" "02330" "PLEC_000117" "g.144997783G>A" "" "" "" "PLEC(NM_201380.4):c.6725C>T (p.A2242V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143923615G>A" "" "likely benign" "" "0000293912" "0" "10" "8" "145011426" "145011426" "subst" "0.0136701" "02330" "PLEC_000220" "g.145011426G>C" "" "" "" "PLEC(NM_000445.3):c.346-16C>G (p.(=)), PLEC(NM_201380.4):c.676-16C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143937258G>C" "" "benign" "" "0000293913" "0" "10" "8" "144997656" "144997656" "subst" "0.343868" "02330" "PLEC_000026" "g.144997656C>T" "" "" "" "PLEC(NM_201380.4):c.6852G>A (p.A2284=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143923488C>T" "" "benign" "" "0000293914" "0" "30" "8" "144997503" "144997503" "subst" "0.00130853" "02330" "PLEC_000108" "g.144997503G>A" "" "" "" "PLEC(NM_000445.3):c.6675C>T (p.(Thr2225=)), PLEC(NM_201380.3):c.7005C>T (p.T2335=), PLEC(NM_201380.4):c.7005C>T (p.T2335=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143923335G>A" "" "likely benign" "" "0000293915" "0" "10" "8" "145011320" "145011320" "subst" "0.00819498" "02330" "PLEC_000219" "g.145011320C>T" "" "" "" "PLEC(NM_000445.3):c.423+13G>A (p.(=)), PLEC(NM_201380.4):c.753+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143937152C>T" "" "benign" "" "0000293916" "0" "10" "8" "144996408" "144996408" "subst" "0.335748" "02330" "PLEC_000029" "g.144996408T>G" "" "" "" "PLEC(NM_201380.4):c.7992A>C (p.A2664=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143922240T>G" "" "benign" "" "0000293917" "0" "10" "8" "144996111" "144996111" "subst" "0.0821857" "02330" "PLEC_000276" "g.144996111C>T" "" "" "" "PLEC(NM_201380.4):c.8289G>A (p.L2763=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143921943C>T" "" "benign" "" "0000293918" "0" "10" "8" "144995736" "144995736" "subst" "0.345065" "02330" "PLEC_000032" "g.144995736G>A" "" "" "" "PLEC(NM_201380.4):c.8664C>T (p.N2888=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143921568G>A" "" "benign" "" "0000293919" "0" "10" "8" "144995670" "144995670" "subst" "0.0138689" "02330" "PLEC_000089" "g.144995670G>A" "" "" "" "PLEC(NM_000445.3):c.8400C>T (p.(=)), PLEC(NM_201380.4):c.8730C>T (p.A2910=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143921502G>A" "" "benign" "" "0000293920" "0" "10" "8" "144995494" "144995494" "subst" "0.345847" "02330" "PLEC_000033" "g.144995494C>T" "" "" "" "PLEC(NM_201380.4):c.8906G>A (p.R2969H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143921326C>T" "" "benign" "" "0000293921" "0" "50" "8" "144995480" "144995480" "subst" "0.00158488" "02330" "PLEC_000079" "g.144995480C>T" "" "" "" "PLEC(NM_000445.3):c.8590G>A (p.(Glu2864Lys)), PLEC(NM_201380.3):c.8920G>A (p.E2974K), PLEC(NM_201380.4):c.8920G>A (p.E2974K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143921312C>T" "" "VUS" "" "0000293923" "0" "10" "8" "144995169" "144995169" "subst" "0.0197837" "02330" "PLEC_000073" "g.144995169G>C" "" "" "" "PLEC(NM_000445.3):c.8901C>G (p.(Asp2967Glu)), PLEC(NM_201380.4):c.9231C>G (p.D3077E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143921001G>C" "" "benign" "" "0000293924" "0" "50" "8" "144995077" "144995077" "subst" "0.000140184" "02330" "PLEC_000274" "g.144995077C>T" "" "" "" "PLEC(NM_201380.4):c.9323G>A (p.R3108Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143920909C>T" "" "VUS" "" "0000293925" "0" "10" "8" "144994888" "144994888" "subst" "0.0571571" "02330" "PLEC_000273" "g.144994888G>A" "" "" "" "PLEC(NM_201380.4):c.9512C>T (p.A3171V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143920720G>A" "" "benign" "" "0000293926" "0" "50" "8" "144994445" "144994445" "subst" "1.89971E-5" "02330" "PLEC_000271" "g.144994445T>C" "" "" "" "PLEC(NM_201380.4):c.9955A>G (p.S3319G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143920277T>C" "" "VUS" "" "0000297087" "0" "30" "8" "144993666" "144993666" "subst" "2.44698E-5" "02325" "PLEC_000268" "g.144993666C>T" "" "" "" "PLEC(NM_201380.4):c.10734G>A (p.S3578=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143919498C>T" "" "likely benign" "" "0000297088" "0" "30" "8" "144992269" "144992269" "subst" "0.00758434" "02325" "PLEC_000062" "g.144992269G>A" "" "" "" "PLEC(NM_000445.3):c.11801C>T (p.(Thr3934Met)), PLEC(NM_201380.4):c.12131C>T (p.T4044M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143918101G>A" "" "likely benign" "" "0000297089" "0" "30" "8" "144992049" "144992049" "subst" "0.00756367" "02325" "PLEC_000255" "g.144992049G>A" "" "" "" "PLEC(NM_000445.3):c.12021C>T (p.(Ile4007=)), PLEC(NM_201380.4):c.12351C>T (p.I4117=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143917881G>A" "" "likely benign" "" "0000297090" "0" "50" "8" "144991645" "144991645" "subst" "4.06299E-6" "02325" "PLEC_000253" "g.144991645C>G" "" "" "" "PLEC(NM_201380.4):c.12755G>C (p.G4252A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143917477C>G" "" "VUS" "" "0000297091" "0" "30" "8" "145009038" "145009038" "subst" "0.000132875" "02325" "PLEC_000213" "g.145009038C>T" "" "" "" "PLEC(NM_201380.4):c.1296G>A (p.M432I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143934870C>T" "" "likely benign" "" "0000297092" "0" "10" "8" "144990879" "144990879" "subst" "0.0122624" "02325" "PLEC_000247" "g.144990879G>A" "" "" "" "PLEC(NM_000445.3):c.13191C>T (p.(Ala4397=)), PLEC(NM_201380.4):c.13521C>T (p.A4507=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143916711G>A" "" "benign" "" "0000297093" "0" "30" "8" "144990510" "144990510" "subst" "0.000758274" "02325" "PLEC_000058" "g.144990510C>T" "" "" "" "PLEC(NM_201380.3):c.13890G>A (p.S4630=), PLEC(NM_201380.4):c.13890G>A (p.S4630=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143916342C>T" "" "likely benign" "" "0000297094" "0" "30" "8" "145024709" "145024709" "subst" "3.45179E-5" "02325" "PLEC_000227" "g.145024709G>A" "" "" "" "PLEC(NM_201380.4):c.166C>T (p.R56W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143950541G>A" "" "likely benign" "" "0000297095" "0" "50" "8" "145006588" "145006588" "subst" "0.000129173" "02325" "PLEC_000198" "g.145006588C>T" "" "" "" "PLEC(NM_000445.3):c.2038G>A (p.(Ala680Thr)), PLEC(NM_201380.4):c.2368G>A (p.A790T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143932420C>T" "" "VUS" "" "0000297096" "0" "10" "8" "145005693" "145005693" "dup" "0" "02325" "PLEC_000195" "g.145005693dup" "" "" "" "PLEC(NM_201380.4):c.2715+13dupG, PLEC(NM_201380.4):c.2715+8delAinsAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143931525dup" "" "benign" "" "0000297098" "0" "10" "8" "145004546" "145004546" "subst" "0.714041" "02325" "PLEC_000011" "g.145004546G>A" "" "" "" "PLEC(NM_201380.4):c.2868+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143930378G>A" "" "benign" "" "0000297099" "0" "30" "8" "145004474" "145004474" "subst" "0.00125325" "02325" "PLEC_000189" "g.145004474G>A" "" "" "" "PLEC(NM_000445.3):c.2539-8C>T (p.(=)), PLEC(NM_201380.4):c.2869-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143930306G>A" "" "likely benign" "" "0000297100" "0" "10" "8" "145024578" "145024578" "subst" "0.00768298" "02325" "PLEC_000226" "g.145024578G>A" "" "" "" "PLEC(NM_201380.2):c.297C>T (p.(Arg99=)), PLEC(NM_201380.4):c.297C>T (p.R99=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143950410G>A" "" "benign" "" "0000297101" "0" "50" "8" "145047609" "145047611" "del" "0" "02325" "PLEC_000228" "g.145047609_145047611del" "" "" "" "PLEC(NM_201378.4):c.31_33delTTC (p.F11del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143973441_143973443del" "" "VUS" "" "0000297102" "0" "30" "8" "145003893" "145003893" "subst" "0.000917497" "02325" "PLEC_000184" "g.145003893G>A" "" "" "" "PLEC(NM_000445.3):c.2925C>T (p.(Pro975=)), PLEC(NM_201380.3):c.3255C>T (p.P1085=), PLEC(NM_201380.4):c.3255C>T (p.P1085=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143929725G>A" "" "likely benign" "" "0000297104" "0" "30" "8" "145002070" "145002070" "subst" "0.00622293" "02325" "PLEC_000181" "g.145002070G>A" "" "" "" "PLEC(NM_000445.3):c.3432C>T (p.(Ala1144=)), PLEC(NM_201380.4):c.3762C>T (p.A1254=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143927902G>A" "" "likely benign" "" "0000297105" "0" "30" "8" "145001853" "145001853" "subst" "0" "02325" "PLEC_000180" "g.145001853C>G" "" "" "" "PLEC(NM_201380.4):c.3892G>C (p.E1298Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143927685C>G" "" "likely benign" "" "0000297106" "0" "30" "8" "145001589" "145001589" "subst" "0.000502223" "02325" "PLEC_000173" "g.145001589G>T" "" "" "" "PLEC(NM_201380.4):c.4156C>A (p.R1386=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143927421G>T" "" "likely benign" "" "0000297107" "0" "30" "8" "145001132" "145001132" "subst" "4.89792E-5" "02325" "PLEC_000165" "g.145001132G>A" "" "" "" "PLEC(NM_201380.4):c.4356+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143926964G>A" "" "likely benign" "" "0000297108" "0" "30" "8" "145000021" "145000021" "subst" "0.000791687" "02325" "PLEC_000162" "g.145000021C>T" "" "" "" "PLEC(NM_000445.3):c.4157G>A (p.(Arg1386His)), PLEC(NM_201380.4):c.4487G>A (p.R1496H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143925853C>T" "" "likely benign" "" "0000297109" "0" "30" "8" "144999935" "144999935" "subst" "0.00241996" "02325" "PLEC_000160" "g.144999935G>A" "" "" "" "PLEC(NM_201380.4):c.4573C>T (p.R1525W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143925767G>A" "" "likely benign" "" "0000297110" "0" "30" "8" "144999669" "144999669" "subst" "0" "02325" "PLEC_000154" "g.144999669C>T" "" "" "" "PLEC(NM_201380.4):c.4839G>A (p.Q1613=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143925501C>T" "" "likely benign" "" "0000297111" "0" "10" "8" "144998793" "144998793" "subst" "0.00667884" "02325" "PLEC_000141" "g.144998793C>T" "" "" "" "PLEC(NM_000445.3):c.5385G>A (p.(Leu1795=)), PLEC(NM_201380.4):c.5715G>A (p.L1905=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143924625C>T" "" "benign" "" "0000297112" "0" "30" "8" "144998621" "144998621" "subst" "0.00652865" "02325" "PLEC_000137" "g.144998621G>A" "" "" "" "PLEC(NM_000445.3):c.5557C>T (p.(Arg1853Trp)), PLEC(NM_201380.4):c.5887C>T (p.R1963W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143924453G>A" "" "likely benign" "" "0000297113" "0" "30" "8" "144998248" "144998248" "subst" "0" "02325" "PLEC_000129" "g.144998248C>T" "" "" "" "PLEC(NM_201380.4):c.6260G>A (p.R2087H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143924080C>T" "" "likely benign" "" "0000297114" "0" "90" "8" "144997886" "144997886" "subst" "0" "02325" "PLEC_000120" "g.144997886G>A" "" "" "" "PLEC(NM_201380.4):c.6622C>T (p.Q2208*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143923718G>A" "" "pathogenic" "" "0000297115" "0" "30" "8" "144997849" "144997849" "subst" "0.000296127" "02325" "PLEC_000118" "g.144997849G>A" "" "" "" "PLEC(NM_201380.3):c.6659C>T (p.A2220V), PLEC(NM_201380.4):c.6659C>T (p.A2220V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143923681G>A" "" "likely benign" "" "0000297116" "0" "30" "8" "144997671" "144997671" "subst" "0.000627453" "02325" "PLEC_000112" "g.144997671G>A" "" "" "" "PLEC(NM_201380.3):c.6837C>T (p.A2279=), PLEC(NM_201380.4):c.6837C>T (p.A2279=), PLEC(NM_201384.3):c.6426C>T (p.(Ala2142=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143923503G>A" "" "likely benign" "" "0000297117" "0" "50" "8" "144997354" "144997354" "subst" "0" "02325" "PLEC_000105" "g.144997354T>G" "" "" "" "PLEC(NM_201380.4):c.7154A>C (p.E2385A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143923186T>G" "" "VUS" "" "0000297118" "0" "30" "8" "144997023" "144997023" "subst" "0.00402299" "02325" "PLEC_000100" "g.144997023C>T" "" "" "" "PLEC(NM_000445.3):c.7155G>A (p.(Ala2385=)), PLEC(NM_201380.3):c.7485G>A (p.A2495=), PLEC(NM_201380.4):c.7485G>A (p.A2495=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143922855C>T" "" "likely benign" "" "0000297119" "0" "30" "8" "144996830" "144996830" "subst" "0.00278932" "02325" "PLEC_000099" "g.144996830C>T" "" "" "" "PLEC(NM_000445.3):c.7348G>A (p.(Ala2450Thr)), PLEC(NM_201380.3):c.7678G>A (p.A2560T), PLEC(NM_201380.4):c.7678G>A (p.A2560T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143922662C>T" "" "likely benign" "" "0000297120" "0" "30" "8" "144996159" "144996159" "subst" "0.000274392" "02325" "PLEC_000095" "g.144996159C>T" "" "" "" "PLEC(NM_000445.3):c.7911G>A (p.(Ala2637=)), PLEC(NM_201380.4):c.8241G>A (p.A2747=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143921991C>T" "" "likely benign" "" "0000297121" "0" "30" "8" "144995598" "144995598" "subst" "0.000122209" "02325" "PLEC_000085" "g.144995598G>A" "" "" "" "PLEC(NM_201380.4):c.8802C>T (p.I2934=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143921430G>A" "" "likely benign" "" "0000297122" "0" "30" "8" "144995514" "144995514" "subst" "6.11232E-5" "02325" "PLEC_000083" "g.144995514G>A" "" "" "" "PLEC(NM_201380.3):c.8886C>T (p.P2962=), PLEC(NM_201380.4):c.8886C>T (p.P2962=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143921346G>A" "" "likely benign" "" "0000297123" "0" "30" "8" "144994656" "144994656" "subst" "0.00208927" "02325" "PLEC_000272" "g.144994656C>T" "" "" "" "PLEC(NM_000445.3):c.9414G>A (p.(Gly3138=)), PLEC(NM_201380.3):c.9744G>A (p.G3248=), PLEC(NM_201380.4):c.9744G>A (p.G3248=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143920488C>T" "" "likely benign" "" "0000301029" "0" "30" "8" "144994028" "144994028" "subst" "0.0056043" "02326" "PLEC_000269" "g.144994028C>T" "" "" "" "PLEC(NM_000445.3):c.10042G>A (p.(Gly3348Arg)), PLEC(NM_201380.4):c.10372G>A (p.G3458R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143919860C>T" "" "likely benign" "" "0000301030" "0" "10" "8" "145009356" "145009356" "subst" "0.0526374" "02326" "PLEC_000216" "g.145009356G>A" "" "" "" "PLEC(NM_000445.3):c.799+10C>T (p.(=)), PLEC(NM_201380.4):c.1129+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143935188G>A" "" "benign" "" "0000301031" "0" "50" "8" "144992912" "144992912" "subst" "0.000192786" "02326" "PLEC_000261" "g.144992912C>T" "" "" "" "PLEC(NM_201380.3):c.11488G>A (p.A3830T), PLEC(NM_201380.4):c.11488G>A (p.A3830T), PLEC(NM_201384.3):c.11077G>A (p.(Ala3693Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143918744C>T" "" "VUS" "" "0000301032" "0" "10" "8" "144991205" "144991205" "subst" "0.00334065" "02326" "PLEC_000249" "g.144991205C>T" "" "" "" "PLEC(NM_000445.3):c.12865G>A (p.(Val4289Ile)), PLEC(NM_201380.4):c.13195G>A (p.V4399I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143917037C>T" "" "benign" "" "0000301033" "0" "30" "8" "145008497" "145008497" "subst" "0.00107236" "02326" "PLEC_000211" "g.145008497G>C" "" "" "" "PLEC(NM_201380.4):c.1569C>G (p.S523R), PLEC(NM_201384.3):c.1158C>G (p.(Ser386Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143934329G>C" "" "likely benign" "" "0000301034" "0" "30" "8" "145006992" "145006992" "subst" "0.0142016" "02326" "PLEC_000202" "g.145006992C>T" "" "" "" "PLEC(NM_000445.3):c.1787G>A (p.(Arg596Gln)), PLEC(NM_201380.4):c.2117G>A (p.R706Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143932824C>T" "" "likely benign" "" "0000301035" "0" "10" "8" "145000056" "145000056" "subst" "0.334408" "02326" "PLEC_000017" "g.145000056T>C" "" "" "" "PLEC(NM_201380.4):c.4456-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143925888T>C" "" "benign" "" "0000301036" "0" "50" "8" "144998131" "144998131" "subst" "5.28024E-5" "02326" "PLEC_000125" "g.144998131C>T" "" "" "" "PLEC(NM_201380.4):c.6377G>A (p.R2126H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143923963C>T" "" "VUS" "" "0000301037" "0" "10" "8" "144995939" "144995939" "subst" "0.0226002" "02326" "PLEC_000093" "g.144995939G>A" "" "" "" "PLEC(NM_000445.3):c.8131C>T (p.(Arg2711Trp)), PLEC(NM_201380.4):c.8461C>T (p.R2821W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143921771G>A" "" "benign" "" "0000305844" "0" "30" "8" "144994233" "144994233" "subst" "6.51312E-5" "01943" "PLEC_000270" "g.144994233C>T" "" "" "" "PLEC(NM_201380.3):c.10167G>A (p.T3389=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143920065C>T" "" "likely benign" "" "0000305845" "0" "50" "8" "144993467" "144993467" "subst" "0.000199041" "01943" "PLEC_000267" "g.144993467C>T" "" "" "" "PLEC(NM_201380.3):c.10933G>A (p.D3645N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143919299C>T" "" "VUS" "" "0000305846" "0" "30" "8" "144993230" "144993230" "subst" "0.00345312" "01943" "PLEC_000265" "g.144993230G>A" "" "" "" "PLEC(NM_000445.3):c.10840C>T (p.(Leu3614=)), PLEC(NM_201380.3):c.11170C>T (p.L3724=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143919062G>A" "" "likely benign" "" "0000305847" "0" "50" "8" "144993053" "144993053" "subst" "0.000131138" "01943" "PLEC_000263" "g.144993053G>A" "" "" "" "PLEC(NM_201380.3):c.11347C>T (p.R3783C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143918885G>A" "" "VUS" "" "0000305848" "0" "50" "8" "144992990" "144992990" "subst" "2.8613E-5" "01943" "PLEC_000262" "g.144992990G>A" "" "" "" "PLEC(NM_201380.3):c.11410C>T (p.R3804W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143918822G>A" "" "VUS" "" "0000305849" "0" "30" "8" "144992352" "144992352" "subst" "3.1054E-5" "01943" "PLEC_000064" "g.144992352G>A" "" "" "" "PLEC(NM_201380.3):c.12048C>T (p.D4016=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143918184G>A" "" "likely benign" "" "0000305850" "0" "50" "8" "144992171" "144992171" "subst" "0.000221957" "01943" "PLEC_000258" "g.144992171C>T" "" "" "" "PLEC(NM_201380.3):c.12229G>A (p.V4077M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143918003C>T" "" "VUS" "" "0000305851" "0" "50" "8" "144992083" "144992083" "subst" "1.62998E-5" "01943" "PLEC_000256" "g.144992083G>A" "" "" "" "PLEC(NM_201380.3):c.12317C>T (p.A4106V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143917915G>A" "" "VUS" "" "0000305852" "0" "30" "8" "144991995" "144991995" "subst" "0.00253417" "01943" "PLEC_000254" "g.144991995G>A" "" "" "" "PLEC(NM_000445.3):c.12075C>T (p.(Pro4025=)), PLEC(NM_201380.3):c.12405C>T (p.P4135=), PLEC(NM_201380.4):c.12405C>T (p.P4135=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143917827G>A" "" "likely benign" "" "0000305853" "0" "30" "8" "144991206" "144991206" "subst" "7.00707E-5" "01943" "PLEC_000250" "g.144991206G>A" "" "" "" "PLEC(NM_201380.3):c.13194C>T (p.A4398=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143917038G>A" "" "likely benign" "" "0000305854" "0" "50" "8" "144990460" "144990460" "subst" "2.88654E-5" "01943" "PLEC_000057" "g.144990460C>A" "" "" "" "PLEC(NM_201380.3):c.13940G>T (p.G4647V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143916292C>A" "" "VUS" "" "0000305855" "0" "50" "8" "145007259" "145007259" "subst" "1.97402E-5" "01943" "PLEC_000207" "g.145007259C>T" "" "" "" "PLEC(NM_201380.3):c.1850G>A (p.R617H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143933091C>T" "" "VUS" "" "0000305856" "0" "50" "8" "145007131" "145007131" "subst" "8.23079E-6" "01943" "PLEC_000204" "g.145007131G>A" "" "" "" "PLEC(NM_201380.3):c.1978C>T (p.R660C), PLEC(NM_201384.1):c.1567C>T (p.(Arg523Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143932963G>A" "" "VUS" "" "0000305857" "0" "30" "8" "145006721" "145006721" "subst" "0.000354161" "01943" "PLEC_000200" "g.145006721G>A" "" "" "" "PLEC(NM_201380.3):c.2235C>T (p.S745=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143932553G>A" "" "likely benign" "" "0000305858" "0" "50" "8" "145006681" "145006681" "subst" "8.36127E-6" "01943" "PLEC_000199" "g.145006681C>A" "" "" "" "PLEC(NM_201380.3):c.2275G>T (p.V759L), PLEC(NM_201384.1):c.1864G>T (p.(Val622Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143932513C>A" "" "VUS" "" "0000305859" "0" "30" "8" "145006118" "145006118" "subst" "0.000148756" "01943" "PLEC_000197" "g.145006118G>A" "" "" "" "PLEC(NM_201380.3):c.2576C>T (p.A859V), PLEC(NM_201384.3):c.2165C>T (p.(Ala722Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143931950G>A" "" "likely benign" "" "0000305860" "0" "50" "8" "145004142" "145004142" "subst" "3.7302E-5" "01943" "PLEC_000187" "g.145004142G>A" "" "" "" "PLEC(NM_201380.3):c.3112C>T (p.R1038C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143929974G>A" "" "VUS" "" "0000305861" "0" "50" "8" "145003994" "145003994" "subst" "4.39792E-5" "01943" "PLEC_000186" "g.145003994G>A" "" "" "" "PLEC(NM_201380.3):c.3154C>T (p.R1052C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143929826G>A" "" "VUS" "" "0000305862" "0" "10" "8" "145003969" "145003969" "subst" "0.000158572" "01943" "PLEC_000185" "g.145003969C>T" "" "" "" "PLEC(NM_201380.3):c.3179G>A (p.R1060H), PLEC(NM_201384.3):c.2768G>A (p.(Arg923His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143929801C>T" "" "benign" "" "0000305863" "0" "30" "8" "145003618" "145003618" "subst" "0" "01943" "PLEC_000182" "g.145003618C>A" "" "" "" "PLEC(NM_201380.3):c.3456G>T (p.P1152=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143929450C>A" "" "likely benign" "" "0000305864" "0" "30" "8" "145001807" "145001807" "subst" "0.000113975" "01943" "PLEC_000179" "g.145001807C>T" "" "" "" "PLEC(NM_201380.3):c.3938G>A (p.R1313H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143927639C>T" "" "likely benign" "" "0000305865" "0" "30" "8" "145001791" "145001791" "subst" "0.00177359" "01943" "PLEC_000177" "g.145001791G>A" "" "" "" "PLEC(NM_000445.3):c.3624C>T (p.(Val1208=)), PLEC(NM_201380.3):c.3954C>T (p.V1318=), PLEC(NM_201380.4):c.3954C>T (p.V1318=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143927623G>A" "" "likely benign" "" "0000305866" "0" "30" "8" "145024478" "145024478" "subst" "0" "01943" "PLEC_000225" "g.145024478G>A" "" "" "" "PLEC(NM_201380.3):c.397C>T (p.P133S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143950310G>A" "" "likely benign" "" "0000305867" "0" "30" "8" "145001205" "145001205" "subst" "0.00152473" "01943" "PLEC_000167" "g.145001205C>T" "" "" "" "PLEC(NM_000445.3):c.3966G>A (p.(Pro1322=)), PLEC(NM_201380.3):c.4296G>A (p.P1432=), PLEC(NM_201380.4):c.4296G>A (p.P1432=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143927037C>T" "" "likely benign" "" "0000305868" "0" "10" "8" "145000014" "145000014" "subst" "0.00429942" "01943" "PLEC_000161" "g.145000014C>T" "" "" "" "PLEC(NM_201380.3):c.4494G>A (p.R1498=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143925846C>T" "" "benign" "" "0000305869" "0" "30" "8" "144999771" "144999771" "subst" "0.00020579" "01943" "PLEC_000158" "g.144999771C>T" "" "" "" "PLEC(NM_201380.3):c.4737G>A (p.A1579=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143925603C>T" "" "likely benign" "" "0000305870" "0" "30" "8" "145024379" "145024379" "subst" "8.78492E-5" "01943" "PLEC_000224" "g.145024379G>A" "" "" "" "PLEC(NM_201380.3):c.496C>T (p.P166S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143950211G>A" "" "likely benign" "" "0000305871" "0" "30" "8" "144999537" "144999537" "subst" "0.000540514" "01943" "PLEC_000151" "g.144999537G>A" "" "" "" "PLEC(NM_201380.3):c.4971C>T (p.R1657=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143925369G>A" "" "likely benign" "" "0000305872" "0" "10" "8" "145024372" "145024372" "subst" "0.00413767" "01943" "PLEC_000223" "g.145024372G>A" "" "" "" "PLEC(NM_201380.3):c.503C>T (p.P168L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143950204G>A" "" "benign" "" "0000305873" "0" "50" "8" "144999446" "144999446" "subst" "0.00243784" "01943" "PLEC_000149" "g.144999446G>A" "" "" "" "PLEC(NM_000445.3):c.4732C>T (p.(Arg1578Cys)), PLEC(NM_201380.3):c.5062C>T (p.R1688C), PLEC(NM_201380.4):c.5062C>T (p.R1688C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143925278G>A" "" "VUS" "" "0000305874" "0" "50" "8" "144999071" "144999071" "subst" "0.000337348" "01943" "PLEC_000145" "g.144999071G>A" "" "" "" "PLEC(NM_201380.3):c.5437C>T (p.R1813C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143924903G>A" "" "VUS" "" "0000305875" "0" "50" "8" "144998815" "144998815" "subst" "0" "01943" "PLEC_000142" "g.144998815C>T" "" "" "" "PLEC(NM_201380.3):c.5693G>A (p.R1898Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143924647C>T" "" "VUS" "" "0000305876" "0" "30" "8" "145013572" "145013572" "subst" "0.000645411" "01943" "PLEC_000221" "g.145013572T>C" "" "" "" "PLEC(NM_201384.1):c.58A>G (p.(Ser20Gly)), PLEC(NM_201384.2):c.58A>G (p.S20G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143939404T>C" "" "likely benign" "" "0000305877" "0" "30" "8" "144998464" "144998464" "subst" "0.000346461" "01943" "PLEC_000133" "g.144998464C>T" "" "" "" "PLEC(NM_201380.3):c.6044G>A (p.R2015Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143924296C>T" "" "likely benign" "" "0000305878" "0" "10" "8" "144998444" "144998444" "subst" "0.00436451" "01943" "PLEC_000132" "g.144998444C>T" "" "" "" "PLEC(NM_000445.3):c.5734G>A (p.(Ala1912Thr)), PLEC(NM_201380.3):c.6064G>A (p.A2022T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143924276C>T" "" "benign" "" "0000305879" "0" "30" "8" "144998286" "144998286" "subst" "0.000188575" "01943" "PLEC_000130" "g.144998286C>T" "" "" "" "PLEC(NM_201380.3):c.6222G>A (p.A2074=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143924118C>T" "" "likely benign" "" "0000305880" "0" "50" "8" "144998087" "144998087" "subst" "6.0437E-5" "01943" "PLEC_000123" "g.144998087G>A" "" "" "" "PLEC(NM_201380.3):c.6421C>T (p.R2141W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143923919G>A" "" "VUS" "" "0000305881" "0" "50" "8" "144997712" "144997712" "subst" "7.66567E-5" "01943" "PLEC_000116" "g.144997712C>A" "" "" "" "PLEC(NM_201380.3):c.6796G>T (p.A2266S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143923544C>A" "" "VUS" "" "0000305882" "0" "50" "8" "144997681" "144997681" "subst" "0.000130081" "01943" "PLEC_000113" "g.144997681C>T" "" "" "" "PLEC(NM_000445.5):c.6497G>A (p.R2166H), PLEC(NM_201380.3):c.6827G>A (p.R2276H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143923513C>T" "" "VUS" "" "0000305883" "0" "50" "8" "144997642" "144997642" "subst" "7.52665E-5" "01943" "PLEC_000110" "g.144997642G>A" "" "" "" "PLEC(NM_000445.5):c.6536C>T (p.A2179V), PLEC(NM_201380.3):c.6866C>T (p.A2289V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143923474G>A" "" "VUS" "" "0000305884" "0" "30" "8" "144997503" "144997503" "subst" "0.00130853" "01943" "PLEC_000108" "g.144997503G>A" "" "" "" "PLEC(NM_000445.3):c.6675C>T (p.(Thr2225=)), PLEC(NM_201380.3):c.7005C>T (p.T2335=), PLEC(NM_201380.4):c.7005C>T (p.T2335=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143923335G>A" "" "likely benign" "" "0000305885" "0" "30" "8" "144997368" "144997368" "subst" "0.000163506" "01943" "PLEC_000106" "g.144997368G>A" "" "" "" "PLEC(NM_201380.3):c.7140C>T (p.L2380=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143923200G>A" "" "likely benign" "" "0000305886" "0" "30" "8" "144997342" "144997342" "subst" "0" "01943" "PLEC_000104" "g.144997342C>T" "" "" "" "PLEC(NM_000445.5):c.6836G>A (p.R2279H), PLEC(NM_201380.3):c.7166G>A (p.R2389H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143923174C>T" "" "likely benign" "" "0000305887" "0" "30" "8" "144997311" "144997311" "subst" "0.000167839" "01943" "PLEC_000102" "g.144997311C>T" "" "" "" "PLEC(NM_000445.3):c.6867G>A (p.(Thr2289=)), PLEC(NM_201380.3):c.7197G>A (p.T2399=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143923143C>T" "" "likely benign" "" "0000305888" "0" "30" "8" "144997023" "144997023" "subst" "0.00402299" "01943" "PLEC_000100" "g.144997023C>T" "" "" "" "PLEC(NM_000445.3):c.7155G>A (p.(Ala2385=)), PLEC(NM_201380.3):c.7485G>A (p.A2495=), PLEC(NM_201380.4):c.7485G>A (p.A2495=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143922855C>T" "" "likely benign" "" "0000305889" "0" "30" "8" "144995850" "144995850" "subst" "3.69407E-5" "01943" "PLEC_000092" "g.144995850G>A" "" "" "" "PLEC(NM_201380.3):c.8550C>T (p.Y2850=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143921682G>A" "" "likely benign" "" "0000305890" "0" "50" "8" "144995656" "144995656" "subst" "2.04143E-5" "01943" "PLEC_000087" "g.144995656T>G" "" "" "" "PLEC(NM_201380.3):c.8744A>C (p.K2915T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143921488T>G" "" "VUS" "" "0000305891" "0" "30" "8" "144995611" "144995611" "subst" "0" "01943" "PLEC_000086" "g.144995611T>C" "" "" "" "PLEC(NM_201380.3):c.8789A>G (p.Q2930R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143921443T>C" "" "likely benign" "" "0000305892" "0" "30" "8" "144995514" "144995514" "subst" "6.11232E-5" "01943" "PLEC_000083" "g.144995514G>A" "" "" "" "PLEC(NM_201380.3):c.8886C>T (p.P2962=), PLEC(NM_201380.4):c.8886C>T (p.P2962=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143921346G>A" "" "likely benign" "" "0000305893" "0" "30" "8" "144995415" "144995415" "subst" "2.43696E-5" "01943" "PLEC_000078" "g.144995415C>T" "" "" "" "PLEC(NM_201380.3):c.8985G>A (p.T2995=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143921247C>T" "" "likely benign" "" "0000305894" "0" "30" "8" "144995376" "144995376" "subst" "0.0005646" "01943" "PLEC_000076" "g.144995376G>A" "" "" "" "PLEC(NM_201380.3):c.9024C>T (p.C3008=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143921208G>A" "" "likely benign" "" "0000332343" "0" "30" "8" "144990734" "144990734" "subst" "1.68438E-5" "01804" "PLEC_000391" "g.144990734C>T" "" "" "" "PLEC(NM_000445.3):c.13336G>A (p.(Ala4446Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143916566C>T" "" "likely benign" "" "0000332344" "0" "50" "8" "144990761" "144990761" "subst" "1.69483E-5" "01804" "PLEC_000392" "g.144990761C>T" "" "" "" "PLEC(NM_000445.3):c.13309G>A (p.(Glu4437Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143916593C>T" "" "VUS" "" "0000332345" "0" "30" "8" "144990784" "144990784" "subst" "0.0148541" "01804" "PLEC_000246" "g.144990784G>A" "" "" "" "PLEC(NM_000445.3):c.13286C>T (p.(Thr4429Met)), PLEC(NM_201380.4):c.13616C>T (p.T4539M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143916616G>A" "" "likely benign" "" "0000332346" "0" "30" "8" "144991205" "144991205" "subst" "0.00334065" "01804" "PLEC_000249" "g.144991205C>T" "" "" "" "PLEC(NM_000445.3):c.12865G>A (p.(Val4289Ile)), PLEC(NM_201380.4):c.13195G>A (p.V4399I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143917037C>T" "" "likely benign" "" "0000332348" "0" "30" "8" "144991629" "144991629" "subst" "0.00944347" "01804" "PLEC_000252" "g.144991629C>T" "" "" "" "PLEC(NM_000445.3):c.12441G>A (p.(Pro4147=)), PLEC(NM_201380.4):c.12771G>A (p.P4257=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143917461C>T" "" "likely benign" "" "0000332349" "0" "50" "8" "144991994" "144991994" "subst" "1.22012E-5" "01804" "PLEC_000408" "g.144991994C>T" "" "" "" "PLEC(NM_201380.2):c.12406G>A (p.(Glu4136Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143917826C>T" "" "VUS" "" "0000332350" "0" "30" "8" "144991995" "144991995" "subst" "0.00253417" "01804" "PLEC_000254" "g.144991995G>A" "" "" "" "PLEC(NM_000445.3):c.12075C>T (p.(Pro4025=)), PLEC(NM_201380.3):c.12405C>T (p.P4135=), PLEC(NM_201380.4):c.12405C>T (p.P4135=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143917827G>A" "" "likely benign" "" "0000332351" "0" "50" "8" "144992153" "144992153" "subst" "8.18599E-5" "01804" "PLEC_000304" "g.144992153G>A" "" "" "" "PLEC(NM_000445.3):c.11917C>T (p.(Arg3973Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143917985G>A" "" "VUS" "" "0000332353" "0" "30" "8" "144992231" "144992231" "subst" "4.53786E-6" "01804" "PLEC_000061" "g.144992231C>G" "" "" "" "PLEC(NM_000445.3):c.11839G>C (p.(Glu3947Gln)), PLEC(NM_201380.3):c.12169G>C (p.E4057Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143918063C>G" "" "likely benign" "" "0000332355" "0" "30" "8" "144992378" "144992378" "subst" "0.0014159" "01804" "PLEC_000066" "g.144992378C>T" "" "" "" "PLEC(NM_000445.3):c.11692G>A (p.(Gly3898Ser)), PLEC(NM_201380.3):c.12022G>A (p.G4008S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143918210C>T" "" "likely benign" "" "0000332357" "0" "30" "8" "144992849" "144992849" "subst" "6.61501E-5" "01804" "PLEC_000068" "g.144992849G>A" "" "" "" "PLEC(NM_000445.3):c.11221C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143918681G>A" "" "likely benign" "" "0000332358" "0" "50" "8" "144992895" "144992895" "subst" "0.00012342" "01804" "PLEC_000069" "g.144992895G>A" "" "" "" "PLEC(NM_000445.3):c.11175C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143918727G>A" "" "VUS" "" "0000332359" "0" "10" "8" "144992900" "144992900" "subst" "0.0334578" "01804" "PLEC_000260" "g.144992900G>A" "" "" "" "PLEC(NM_000445.3):c.11170C>T (p.(Leu3724=)), PLEC(NM_201380.4):c.11500C>T (p.L3834=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143918732G>A" "" "benign" "" "0000332361" "0" "30" "8" "144993003" "144993003" "subst" "0.00986428" "01804" "PLEC_000416" "g.144993003G>A" "" "" "" "PLEC(NM_000445.3):c.11067C>T (p.(Thr3689=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143918835G>A" "" "likely benign" "" "0000332362" "0" "30" "8" "144993230" "144993230" "subst" "0.00345312" "01804" "PLEC_000265" "g.144993230G>A" "" "" "" "PLEC(NM_000445.3):c.10840C>T (p.(Leu3614=)), PLEC(NM_201380.3):c.11170C>T (p.L3724=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143919062G>A" "" "likely benign" "" "0000332363" "0" "10" "8" "144994044" "144994044" "subst" "0.00635474" "01804" "PLEC_000428" "g.144994044G>A" "" "" "" "PLEC(NM_000445.3):c.10026C>T (p.(Ser3342=)), PLEC(NM_000445.5):c.10026C>T (p.S3342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143919876G>A" "" "benign" "" "0000332364" "0" "30" "8" "144994064" "144994064" "subst" "0.00475608" "01804" "PLEC_000430" "g.144994064G>A" "" "" "" "PLEC(NM_000445.3):c.10006C>T (p.(Arg3336Cys)), PLEC(NM_201380.3):c.10336C>T (p.R3446C), PLEC(NM_201380.4):c.10336C>T (p.R3446C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143919896G>A" "" "likely benign" "" "0000332365" "0" "30" "8" "144994374" "144994374" "subst" "3.48766E-5" "01804" "PLEC_000435" "g.144994374G>A" "" "" "" "PLEC(NM_000445.3):c.9696C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143920206G>A" "" "likely benign" "" "0000332366" "0" "50" "8" "144995078" "144995078" "subst" "5.35495E-5" "01804" "PLEC_000443" "g.144995078G>A" "" "" "" "PLEC(NM_000445.3):c.8992C>T (p.(Arg2998Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143920910G>A" "" "VUS" "" "0000332367" "0" "50" "8" "144995107" "144995107" "subst" "2.86418E-5" "01804" "PLEC_000072" "g.144995107G>A" "" "" "" "PLEC(NM_000445.3):c.8963C>T (p.(Thr2988Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143920939G>A" "" "VUS" "" "0000332368" "0" "50" "8" "144995251" "144995251" "subst" "3.26581E-5" "01804" "PLEC_000075" "g.144995251G>A" "" "" "" "PLEC(NM_000445.3):c.8819C>T (p.(Pro2940Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143921083G>A" "" "VUS" "" "0000332369" "0" "50" "8" "144995380" "144995380" "subst" "6.09281E-5" "01804" "PLEC_000077" "g.144995380C>T" "" "" "" "PLEC(NM_000445.3):c.8690G>A (p.(Arg2897His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143921212C>T" "" "VUS" "" "0000332370" "0" "30" "8" "144995480" "144995480" "subst" "0.00158488" "01804" "PLEC_000079" "g.144995480C>T" "" "" "" "PLEC(NM_000445.3):c.8590G>A (p.(Glu2864Lys)), PLEC(NM_201380.3):c.8920G>A (p.E2974K), PLEC(NM_201380.4):c.8920G>A (p.E2974K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143921312C>T" "" "likely benign" "" "0000332371" "0" "30" "8" "144995500" "144995500" "subst" "0.00915401" "01804" "PLEC_000081" "g.144995500T>C" "" "" "" "PLEC(NM_000445.3):c.8570A>G (p.(Tyr2857Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143921332T>C" "" "likely benign" "" "0000332372" "0" "30" "8" "144995508" "144995508" "subst" "0.000109955" "01804" "PLEC_000082" "g.144995508G>A" "" "" "" "PLEC(NM_000445.3):c.8562C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143921340G>A" "" "likely benign" "" "0000332373" "0" "50" "8" "144995559" "144995559" "subst" "0.0022377" "01804" "PLEC_000084" "g.144995559G>C" "" "" "" "PLEC(NM_000445.3):c.8511C>G (p.(Ile2837Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143921391G>C" "" "VUS" "" "0000332374" "0" "50" "8" "144995723" "144995723" "subst" "0" "01804" "PLEC_000090" "g.144995723C>T" "" "" "" "PLEC(NM_000445.3):c.8347G>A (p.(Glu2783Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143921555C>T" "" "VUS" "" "0000332375" "0" "30" "8" "144995939" "144995939" "subst" "0.0226002" "01804" "PLEC_000093" "g.144995939G>A" "" "" "" "PLEC(NM_000445.3):c.8131C>T (p.(Arg2711Trp)), PLEC(NM_201380.4):c.8461C>T (p.R2821W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143921771G>A" "" "likely benign" "" "0000332376" "0" "30" "8" "144995977" "144995977" "subst" "0.0054529" "01804" "PLEC_000094" "g.144995977C>T" "" "" "" "PLEC(NM_000445.3):c.8093G>A (p.(Arg2698Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143921809C>T" "" "likely benign" "" "0000332377" "0" "50" "8" "144996320" "144996320" "subst" "0.000389408" "01804" "PLEC_000096" "g.144996320G>A" "" "" "" "PLEC(NM_000445.3):c.7750C>T (p.(Arg2584Trp)), PLEC(NM_000445.5):c.7750C>T (p.R2584W), PLEC(NM_201380.3):c.8080C>T (p.R2694W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143922152G>A" "" "VUS" "" "0000332379" "0" "30" "8" "144997023" "144997023" "subst" "0.00402299" "01804" "PLEC_000100" "g.144997023C>T" "" "" "" "PLEC(NM_000445.3):c.7155G>A (p.(Ala2385=)), PLEC(NM_201380.3):c.7485G>A (p.A2495=), PLEC(NM_201380.4):c.7485G>A (p.A2495=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143922855C>T" "" "likely benign" "" "0000332381" "0" "50" "8" "144997319" "144997319" "subst" "0.000193075" "01804" "PLEC_000103" "g.144997319C>T" "" "" "" "PLEC(NM_000445.3):c.6859G>A (p.(Asp2287Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143923151C>T" "" "VUS" "" "0000332383" "0" "30" "8" "144997520" "144997520" "subst" "0.00508456" "01804" "PLEC_000109" "g.144997520G>A" "" "" "" "PLEC(NM_000445.3):c.6658C>T (p.(Leu2220=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143923352G>A" "" "likely benign" "" "0000332384" "0" "50" "8" "144997689" "144997689" "subst" "0.00032794" "01804" "PLEC_000114" "g.144997689C>T" "" "" "" "PLEC(NM_000445.3):c.6489G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143923521C>T" "" "VUS" "" "0000332385" "0" "50" "8" "144997699" "144997699" "subst" "0.000148459" "01804" "PLEC_000115" "g.144997699G>A" "" "" "" "PLEC(NM_000445.3):c.6479C>T (p.(Ala2160Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143923531G>A" "" "VUS" "" "0000332387" "0" "50" "8" "144998038" "144998038" "subst" "0.00183999" "01804" "PLEC_000122" "g.144998038T>G" "" "" "" "PLEC(NM_000445.3):c.6140A>C (p.(Glu2047Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143923870T>G" "" "VUS" "" "0000332388" "0" "50" "8" "144998175" "144998175" "subst" "0.00133931" "01804" "PLEC_000127" "g.144998175C>G" "" "" "" "PLEC(NM_000445.3):c.6003G>C (p.(Gln2001His)), PLEC(NM_201380.3):c.6333G>C (p.Q2111H), PLEC(NM_201380.4):c.6333G>C (p.Q2111H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143924007C>G" "" "VUS" "" "0000332389" "0" "50" "8" "144998218" "144998218" "subst" "0.000186225" "01804" "PLEC_000128" "g.144998218C>T" "" "" "" "PLEC(NM_000445.3):c.5960G>A (p.(Arg1987His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143924050C>T" "" "VUS" "" "0000332390" "0" "30" "8" "144998301" "144998301" "subst" "0.000477928" "01804" "PLEC_000131" "g.144998301C>T" "" "" "" "PLEC(NM_000445.3):c.5877G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143924133C>T" "" "likely benign" "" "0000332391" "0" "30" "8" "144998444" "144998444" "subst" "0.00436451" "01804" "PLEC_000132" "g.144998444C>T" "" "" "" "PLEC(NM_000445.3):c.5734G>A (p.(Ala1912Thr)), PLEC(NM_201380.3):c.6064G>A (p.A2022T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143924276C>T" "" "likely benign" "" "0000332392" "0" "50" "8" "144998557" "144998557" "subst" "0.000214234" "01804" "PLEC_000135" "g.144998557C>T" "" "" "" "PLEC(NM_000445.3):c.5621G>A (p.(Arg1874Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143924389C>T" "" "VUS" "" "0000332393" "0" "30" "8" "144998620" "144998620" "subst" "0.00939055" "01804" "PLEC_000136" "g.144998620C>T" "" "" "" "PLEC(NM_000445.3):c.5558G>A (p.(Arg1853Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143924452C>T" "" "likely benign" "" "0000332395" "0" "50" "8" "144998654" "144998654" "subst" "0.000851564" "01804" "PLEC_000138" "g.144998654G>A" "" "" "" "PLEC(NM_000445.3):c.5524C>T (p.(Arg1842Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143924486G>A" "" "VUS" "" "0000332397" "0" "50" "8" "144998718" "144998718" "subst" "0" "01804" "PLEC_000139" "g.144998718G>A" "" "" "" "PLEC(NM_000445.3):c.5460C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143924550G>A" "" "VUS" "" "0000332398" "0" "30" "8" "144998781" "144998781" "subst" "0.00557134" "01804" "PLEC_000140" "g.144998781C>T" "" "" "" "PLEC(NM_000445.3):c.5397G>A (p.(Ala1799=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143924613C>T" "" "likely benign" "" "0000332399" "0" "30" "8" "144998793" "144998793" "subst" "0.00667884" "01804" "PLEC_000141" "g.144998793C>T" "" "" "" "PLEC(NM_000445.3):c.5385G>A (p.(Leu1795=)), PLEC(NM_201380.4):c.5715G>A (p.L1905=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143924625C>T" "" "likely benign" "" "0000332400" "0" "30" "8" "144998868" "144998868" "subst" "0.0385484" "01804" "PLEC_000022" "g.144998868C>T" "" "" "" "PLEC(NM_000445.3):c.5310G>A (p.(Ala1770=)), PLEC(NM_201380.4):c.5640G>A (p.A1880=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143924700C>T" "" "likely benign" "" "0000332401" "0" "50" "8" "144999032" "144999032" "subst" "0.000192414" "01804" "PLEC_000482" "g.144999032G>A" "" "" "" "PLEC(NM_000445.3):c.5146C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143924864G>A" "" "VUS" "" "0000332402" "0" "50" "8" "144999070" "144999070" "subst" "0.00017854" "01804" "PLEC_000144" "g.144999070C>T" "" "" "" "PLEC(NM_000445.3):c.5108G>A (p.(Arg1703His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143924902C>T" "" "VUS" "" "0000332403" "0" "50" "8" "144999224" "144999224" "subst" "0.000707651" "01804" "PLEC_000147" "g.144999224C>T" "" "" "" "PLEC(NM_000445.3):c.4954G>A (p.(Glu1652Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143925056C>T" "" "VUS" "" "0000332404" "0" "50" "8" "144999446" "144999446" "subst" "0.00243784" "01804" "PLEC_000149" "g.144999446G>A" "" "" "" "PLEC(NM_000445.3):c.4732C>T (p.(Arg1578Cys)), PLEC(NM_201380.3):c.5062C>T (p.R1688C), PLEC(NM_201380.4):c.5062C>T (p.R1688C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143925278G>A" "" "VUS" "" "0000332405" "0" "30" "8" "144999499" "144999499" "subst" "0.00400156" "01804" "PLEC_000150" "g.144999499C>T" "" "" "" "PLEC(NM_000445.3):c.4679G>A (p.(Arg1560Gln)), PLEC(NM_201380.4):c.5009G>A (p.R1670Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143925331C>T" "" "likely benign" "" "0000332406" "0" "30" "8" "144999540" "144999540" "subst" "0.00541438" "01804" "PLEC_000152" "g.144999540C>T" "" "" "" "PLEC(NM_000445.3):c.4638G>A (p.(Ser1546=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143925372C>T" "" "likely benign" "" "0000332407" "0" "50" "8" "144999724" "144999724" "subst" "0.000237857" "01804" "PLEC_000156" "g.144999724C>A" "" "" "" "PLEC(NM_000445.3):c.4454G>T (p.(Arg1485Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143925556C>A" "" "VUS" "" "0000332408" "0" "30" "8" "144999731" "144999731" "subst" "0.00366295" "01804" "PLEC_000157" "g.144999731C>T" "" "" "" "PLEC(NM_000445.3):c.4447G>A (p.(Val1483Met)), PLEC(NM_201380.3):c.4777G>A (p.V1593M), PLEC(NM_201380.4):c.4777G>A (p.V1593M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143925563C>T" "" "likely benign" "" "0000332410" "0" "50" "8" "145001205" "145001205" "subst" "0.00152473" "01804" "PLEC_000167" "g.145001205C>T" "" "" "" "PLEC(NM_000445.3):c.3966G>A (p.(Pro1322=)), PLEC(NM_201380.3):c.4296G>A (p.P1432=), PLEC(NM_201380.4):c.4296G>A (p.P1432=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143927037C>T" "" "VUS" "" "0000332411" "0" "10" "8" "145001221" "145001221" "subst" "0.00302248" "01804" "PLEC_000168" "g.145001221T>C" "" "" "" "PLEC(NM_201380.4):c.4280A>G (p.K1427R), PLEC(NM_201384.3):c.3869A>G (p.(Lys1290Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143927053T>C" "" "benign" "" "0000332412" "0" "30" "8" "145001652" "145001652" "subst" "0.00380811" "01804" "PLEC_000174" "g.145001652G>A" "" "" "" "PLEC(NM_000445.3):c.3763C>T (p.(Arg1255Trp)), PLEC(NM_201380.3):c.4093C>T (p.R1365W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143927484G>A" "" "likely benign" "" "0000332414" "0" "50" "8" "145001802" "145001802" "subst" "0" "01804" "PLEC_000178" "g.145001802G>A" "" "" "" "PLEC(NM_000445.3):c.3613C>T (p.(Arg1205Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143927634G>A" "" "VUS" "" "0000332415" "0" "30" "8" "145003893" "145003893" "subst" "0.000917497" "01804" "PLEC_000184" "g.145003893G>A" "" "" "" "PLEC(NM_000445.3):c.2925C>T (p.(Pro975=)), PLEC(NM_201380.3):c.3255C>T (p.P1085=), PLEC(NM_201380.4):c.3255C>T (p.P1085=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143929725G>A" "" "likely benign" "" "0000332416" "0" "50" "8" "145004417" "145004417" "subst" "0.000140401" "01804" "PLEC_000188" "g.145004417G>A" "" "" "" "PLEC(NM_201380.2):c.2918C>T (p.(Pro973Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143930249G>A" "" "VUS" "" "0000332417" "0" "30" "8" "145004474" "145004474" "subst" "0.00125325" "01804" "PLEC_000189" "g.145004474G>A" "" "" "" "PLEC(NM_000445.3):c.2539-8C>T (p.(=)), PLEC(NM_201380.4):c.2869-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143930306G>A" "" "likely benign" "" "0000332418" "0" "70" "8" "145004551" "145004551" "subst" "0" "01804" "PLEC_000191" "g.145004551C>T" "" "" "" "PLEC(NM_000445.3):c.2538+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143930383C>T" "" "likely pathogenic" "" "0000332419" "0" "50" "8" "145004701" "145004701" "subst" "0.000174461" "01804" "PLEC_000192" "g.145004701C>T" "" "" "" "PLEC(NM_000445.3):c.2389G>A (p.(Glu797Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143930533C>T" "" "VUS" "" "0000332420" "0" "50" "8" "145004714" "145004714" "del" "0.00294877" "01804" "PLEC_000193" "g.145004714del" "" "" "" "PLEC(NM_000445.3):c.2386-10del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143930546del" "" "VUS" "" "0000332421" "0" "30" "8" "145005769" "145005769" "subst" "0.000901451" "01804" "PLEC_000196" "g.145005769C>T" "" "" "" "PLEC(NM_000445.3):c.2318G>A (p.(Arg773His)), PLEC(NM_201380.3):c.2648G>A (p.R883H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143931601C>T" "" "likely benign" "" "0000332422" "0" "10" "8" "145006992" "145006992" "subst" "0.0142016" "01804" "PLEC_000202" "g.145006992C>T" "" "" "" "PLEC(NM_000445.3):c.1787G>A (p.(Arg596Gln)), PLEC(NM_201380.4):c.2117G>A (p.R706Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143932824C>T" "" "benign" "" "0000332423" "0" "50" "8" "145006993" "145006993" "subst" "0.000145982" "01804" "PLEC_000203" "g.145006993G>A" "" "" "" "PLEC(NM_000445.3):c.1786C>T (p.(Arg596Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143932825G>A" "" "VUS" "" "0000332424" "0" "50" "8" "145007409" "145007409" "subst" "0.00325181" "01804" "PLEC_000208" "g.145007409G>A" "" "" "" "PLEC(NM_000445.3):c.1455C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143933241G>A" "" "VUS" "" "0000332425" "0" "50" "8" "145008193" "145008193" "subst" "0.00107074" "01804" "PLEC_000210" "g.145008193C>T" "" "" "" "PLEC(NM_000445.3):c.1317G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143934025C>T" "" "VUS" "" "0000332426" "0" "30" "8" "145009036" "145009036" "subst" "0.0118427" "01804" "PLEC_000212" "g.145009036C>T" "" "" "" "PLEC(NM_000445.3):c.968G>A (p.(Arg323Gln)), PLEC(NM_201380.4):c.1298G>A (p.R433Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143934868C>T" "" "likely benign" "" "0000332427" "0" "30" "8" "145009112" "145009112" "subst" "6.65679E-5" "01804" "PLEC_000214" "g.145009112G>A" "" "" "" "PLEC(NM_000445.3):c.907-15C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143934944G>A" "" "likely benign" "" "0000332428" "0" "30" "8" "145009232" "145009232" "subst" "0.000264746" "01804" "PLEC_000215" "g.145009232G>A" "" "" "" "PLEC(NM_000445.3):c.853C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143935064G>A" "" "likely benign" "" "0000332429" "0" "30" "8" "145009356" "145009356" "subst" "0.0526374" "01804" "PLEC_000216" "g.145009356G>A" "" "" "" "PLEC(NM_000445.3):c.799+10C>T (p.(=)), PLEC(NM_201380.4):c.1129+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143935188G>A" "" "likely benign" "" "0000332430" "0" "50" "8" "145009361" "145009361" "subst" "2.03909E-5" "01804" "PLEC_000217" "g.145009361C>T" "" "" "" "PLEC(NM_000445.3):c.799+5G>A (p.?), PLEC(NM_201380.4):c.1129+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143935193C>T" "" "VUS" "" "0000332432" "0" "30" "8" "145016657" "145016657" "subst" "0.00359629" "01804" "PLEC_000222" "g.145016657G>C" "" "" "" "PLEC(NM_201383.1):c.27C>G (p.(Ala9=)), PLEC(NM_201383.3):c.27C>G (p.A9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143942489G>C" "" "likely benign" "" "0000332433" "0" "50" "8" "145049390" "145049390" "subst" "1.67829E-5" "01804" "PLEC_000229" "g.145049390C>A" "" "" "" "PLEC(NM_000445.3):c.148G>T (p.(Gly50Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143975222C>A" "" "VUS" "" "0000332434" "0" "50" "8" "145049512" "145049512" "subst" "0.00115169" "01804" "PLEC_000230" "g.145049512C>T" "" "" "" "PLEC(NM_000445.3):c.26G>A (p.(Arg9Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143975344C>T" "" "VUS" "" "0000341951" "0" "50" "8" "145000022" "145000022" "subst" "7.77638E-5" "02327" "PLEC_000243" "g.145000022G>A" "" "" "" "PLEC(NM_000445.4):c.4156C>T (p.R1386C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143925854G>A" "" "VUS" "" "0000342206" "0" "50" "8" "144998374" "144998374" "subst" "0" "02327" "PLEC_000238" "g.144998374C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143924206C>A" "" "VUS" "" "0000342383" "0" "90" "8" "144997223" "144997223" "subst" "2.09237E-5" "02327" "PLEC_000237" "g.144997223G>A" "" "" "" "PLEC(NM_201380.4):c.7285C>T (p.R2429*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143923055G>A" "" "pathogenic" "" "0000342706" "0" "50" "8" "144993862" "144993862" "subst" "2.54336E-5" "02327" "PLEC_000234" "g.144993862C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143919694C>T" "" "VUS" "" "0000344082" "0" "50" "8" "144992435" "144992435" "subst" "9.11569E-6" "02327" "PLEC_000231" "g.144992435C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143918267C>T" "" "VUS" "" "0000344568" "0" "90" "8" "144999956" "144999956" "subst" "0" "02327" "PLEC_000242" "g.144999956G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143925788G>A" "" "pathogenic" "" "0000345195" "0" "30" "8" "144999116" "144999116" "subst" "6.94444E-5" "02327" "PLEC_000240" "g.144999116C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143924948C>T" "" "likely benign" "" "0000345214" "0" "50" "8" "144998609" "144998609" "subst" "0" "02327" "PLEC_000239" "g.144998609C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143924441C>T" "" "VUS" "" "0000345344" "0" "50" "8" "144995290" "144995290" "subst" "0" "02327" "PLEC_000236" "g.144995290T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143921122T>G" "" "VUS" "" "0000346049" "0" "50" "8" "144992567" "144992567" "subst" "0" "02327" "PLEC_000046" "g.144992567C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143918399C>T" "" "VUS" "" "0000439067" "0" "50" "8" "144993785" "144993785" "subst" "6.46896E-5" "01164" "PLEC_000280" "g.144993785C>T" "" "" "" "" "" "Germline" "" "rs561251865" "0" "" "" "g.143919617C>T" "" "VUS" "ACMG" "0000440085" "0" "50" "8" "144998822" "144998822" "subst" "0" "01164" "PLEC_000282" "g.144998822T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.143924654T>C" "" "VUS" "ACMG" "0000441100" "0" "50" "8" "144998017" "144998017" "subst" "3.43124E-5" "01164" "PLEC_000281" "g.144998017C>T" "" "" "" "" "" "Germline" "" "rs782194846" "0" "" "" "g.143923849C>T" "" "VUS" "ACMG" "0000442722" "0" "50" "8" "144991179" "144991179" "subst" "4.11923E-6" "01164" "PLEC_000283" "g.144991179C>G" "" "" "" "" "no second variant detected in PLEC, not regarded causative for phenotyp in patient" "Germline" "" "rs782120596" "0" "" "" "g.143917011C>G" "" "VUS" "ACMG" "0000446173" "3" "90" "8" "145047638" "145047646" "del" "0" "00006" "PLEC_000001" "g.145047638_145047646del" "" "{PMID:Gundesli 2010:21109228}" "" "1_9del" "mapped by linkage, homozygous 3.7 Mb region; not in 342 control chromosomes; founder haplotype" "Germline" "" "" "0" "" "" "g.143973470_143973478del" "" "pathogenic (recessive)" "" "0000446174" "3" "90" "8" "145047638" "145047646" "del" "0" "00006" "PLEC_000001" "g.145047638_145047646del" "" "{PMID:Gundesli 2010:21109228}" "" "1_9del" "mapped by linkage, homozygous 3.7 Mb region; not in 342 control chromosomes; founder haplotype" "Germline" "" "" "0" "" "" "g.143973470_143973478del" "" "pathogenic (recessive)" "" "0000446175" "3" "90" "8" "145047638" "145047646" "del" "0" "00006" "PLEC_000001" "g.145047638_145047646del" "" "{PMID:Gundesli 2010:21109228}" "" "1_9del" "mapped by linkage, homozygous 3.7 Mb region; not in 342 control chromosomes; founder haplotype" "Germline" "" "" "0" "" "" "g.143973470_143973478del" "" "pathogenic (recessive)" "" "0000446176" "3" "90" "8" "145047638" "145047646" "del" "0" "00006" "PLEC_000001" "g.145047638_145047646del" "" "{PMID:Gundesli 2010:21109228}" "" "1_9del" "mapped by linkage, homozygous 3.7 Mb region; not in 342 control chromosomes; founder haplotype; muscle RNA <0.01" "Germline" "" "" "0" "" "" "g.143973470_143973478del" "" "pathogenic (recessive)" "" "0000446177" "3" "90" "8" "145047638" "145047646" "del" "0" "00006" "PLEC_000001" "g.145047638_145047646del" "" "{PMID:Gundesli 2010:21109228}" "" "1_9del" "not in 342 control chromosomes; founder haplotype" "Germline" "" "" "0" "" "" "g.143973470_143973478del" "" "pathogenic (recessive)" "" "0000446178" "3" "90" "8" "145047638" "145047646" "del" "0" "00006" "PLEC_000001" "g.145047638_145047646del" "" "{PMID:Gundesli 2010:21109228}" "" "1_9del" "not in 342 control chromosomes; founder haplotype" "Germline" "" "" "0" "" "" "g.143973470_143973478del" "" "pathogenic (recessive)" "" "0000446179" "0" "10" "8" "145012777" "145012777" "subst" "0.331382" "00430" "PLEC_000002" "g.145012777C>G" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.143938609C>G" "" "benign" "" "0000446180" "0" "10" "8" "145011204" "145011204" "subst" "0.331948" "00430" "PLEC_000003" "g.145011204A>G" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.143937036A>G" "" "benign" "" "0000446181" "0" "10" "8" "145008931" "145008931" "subst" "0.372881" "00430" "PLEC_000004" "g.145008931G>C" "" "from website {DBsub-Emory}" "" "1026+47C>G" "" "Unknown" "" "" "0" "" "" "g.143934763G>C" "" "benign" "" "0000446182" "0" "10" "8" "145008931" "145008931" "subst" "0.372881" "00430" "PLEC_000004" "g.145008931G>C" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.143934763G>C" "" "benign" "" "0000446183" "0" "10" "8" "145008560" "145008560" "subst" "0.331367" "00430" "PLEC_000005" "g.145008560A>G" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.143934392A>G" "" "benign" "" "0000446184" "0" "10" "8" "145008443" "145008443" "subst" "0.330446" "00430" "PLEC_000006" "g.145008443A>T" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.143934275A>T" "" "benign" "" "0000446185" "0" "10" "8" "145007534" "145007534" "subst" "0.373174" "00430" "PLEC_000007" "g.145007534C>T" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.143933366C>T" "" "benign" "" "0000446186" "0" "10" "8" "145007187" "145007187" "subst" "0.331755" "00430" "PLEC_000008" "g.145007187G>A" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.143933019G>A" "" "benign" "" "0000446187" "0" "10" "8" "145006790" "145006790" "subst" "0.352063" "00430" "PLEC_000009" "g.145006790T>C" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.143932622T>C" "" "benign" "" "0000446188" "0" "10" "8" "145005693" "145005693" "dup" "0" "00430" "PLEC_000010" "g.145005693dup" "" "from website {DBsub-Emory}" "" "2385+13dupG" "" "Unknown" "" "" "0" "" "" "g.143931525dup" "" "benign" "" "0000446189" "0" "10" "8" "145004546" "145004546" "subst" "0.714041" "00430" "PLEC_000011" "g.145004546G>A" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.143930378G>A" "" "benign" "" "0000446190" "0" "10" "8" "145003777" "145003777" "subst" "0.331951" "00430" "PLEC_000012" "g.145003777G>A" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.143929609G>A" "" "benign" "" "0000446191" "0" "10" "8" "145001784" "145001784" "subst" "0.332198" "00430" "PLEC_000013" "g.145001784A>G" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.143927616A>G" "" "benign" "" "0000446192" "0" "10" "8" "145001588" "145001588" "subst" "0.3432" "00430" "PLEC_000014" "g.145001588C>T" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.143927420C>T" "" "benign" "" "0000446193" "0" "10" "8" "145001509" "145001509" "subst" "0.343612" "00430" "PLEC_000015" "g.145001509T>C" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.143927341T>C" "" "benign" "" "0000446194" "0" "10" "8" "145001031" "145001031" "subst" "0.402632" "00430" "PLEC_000016" "g.145001031T>C" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.143926863T>C" "" "benign" "" "0000446195" "0" "10" "8" "145000056" "145000056" "subst" "0.334408" "00430" "PLEC_000017" "g.145000056T>C" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.143925888T>C" "" "benign" "" "0000446196" "0" "10" "8" "144999684" "144999684" "subst" "0.331596" "00430" "PLEC_000018" "g.144999684A>G" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.143925516A>G" "" "benign" "" "0000446197" "0" "10" "8" "144999642" "144999642" "subst" "0.333482" "00430" "PLEC_000019" "g.144999642A>C" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.143925474A>C" "" "benign" "" "0000446198" "0" "10" "8" "144999621" "144999621" "subst" "0.324097" "00430" "PLEC_000020" "g.144999621C>T" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.143925453C>T" "" "benign" "" "0000446199" "0" "10" "8" "144999417" "144999417" "subst" "0.33413" "00430" "PLEC_000021" "g.144999417C>T" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.143925249C>T" "" "benign" "" "0000446200" "0" "50" "8" "144998868" "144998868" "subst" "0.0385484" "00430" "PLEC_000022" "g.144998868C>T" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.143924700C>T" "" "VUS" "" "0000446201" "0" "10" "8" "144998190" "144998190" "subst" "0.336612" "00430" "PLEC_000023" "g.144998190A>G" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.143924022A>G" "" "benign" "" "0000446202" "0" "10" "8" "144998169" "144998169" "subst" "0.338706" "00430" "PLEC_000024" "g.144998169C>T" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.143924001C>T" "" "benign" "" "0000446203" "0" "10" "8" "144997927" "144997927" "subst" "0.343725" "00430" "PLEC_000025" "g.144997927G>A" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.143923759G>A" "" "benign" "" "0000446204" "0" "10" "8" "144997656" "144997656" "subst" "0.343868" "00430" "PLEC_000026" "g.144997656C>T" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.143923488C>T" "" "benign" "" "0000446205" "0" "10" "8" "144996635" "144996635" "subst" "0.342232" "00430" "PLEC_000027" "g.144996635G>A" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.143922467G>A" "" "benign" "" "0000446206" "0" "10" "8" "144996598" "144996598" "subst" "0.342343" "00430" "PLEC_000028" "g.144996598G>A" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.143922430G>A" "" "benign" "" "0000446207" "0" "10" "8" "144996408" "144996408" "subst" "0.335748" "00430" "PLEC_000029" "g.144996408T>G" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.143922240T>G" "" "benign" "" "0000446208" "0" "10" "8" "144996029" "144996029" "subst" "0.398204" "00430" "PLEC_000030" "g.144996029A>G" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.143921861A>G" "" "benign" "" "0000446209" "0" "10" "8" "144995997" "144995997" "subst" "8.20444E-5" "00430" "PLEC_000031" "g.144995997C>T" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.143921829C>T" "" "benign" "" "0000446210" "0" "10" "8" "144995736" "144995736" "subst" "0.345065" "00430" "PLEC_000032" "g.144995736G>A" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.143921568G>A" "" "benign" "" "0000446211" "0" "10" "8" "144995494" "144995494" "subst" "0.345847" "00430" "PLEC_000033" "g.144995494C>T" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.143921326C>T" "" "benign" "" "0000446212" "0" "10" "8" "144994916" "144994916" "subst" "0.0197031" "00430" "PLEC_000034" "g.144994916C>T" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.143920748C>T" "" "benign" "" "0000446213" "0" "10" "8" "144994212" "144994212" "subst" "0.0241336" "00430" "PLEC_000035" "g.144994212A>T" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.143920044A>T" "" "benign" "" "0000446214" "0" "10" "8" "144993377" "144993377" "subst" "0.405162" "00430" "PLEC_000036" "g.144993377A>G" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.143919209A>G" "" "benign" "" "0000446215" "0" "10" "8" "144993324" "144993324" "subst" "0.345657" "00430" "PLEC_000037" "g.144993324C>T" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.143919156C>T" "" "benign" "" "0000446216" "0" "10" "8" "144992862" "144992862" "subst" "0.397553" "00430" "PLEC_000038" "g.144992862A>G" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.143918694A>G" "" "benign" "" "0000446217" "0" "10" "8" "144992361" "144992361" "subst" "0.406057" "00430" "PLEC_000039" "g.144992361T>C" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.143918193T>C" "" "benign" "" "0000446218" "0" "10" "8" "144992103" "144992103" "subst" "0.421839" "00430" "PLEC_000040" "g.144992103T>C" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.143917935T>C" "" "benign" "" "0000446219" "0" "10" "8" "144991176" "144991176" "subst" "0.408168" "00430" "PLEC_000041" "g.144991176T>C" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.143917008T>C" "" "benign" "" "0000446220" "0" "10" "8" "144990528" "144990528" "subst" "0.4031" "00430" "PLEC_000042" "g.144990528A>G" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.143916360A>G" "" "benign" "" "0000446221" "0" "10" "8" "144990335" "144990335" "subst" "0.34711" "00430" "PLEC_000043" "g.144990335G>A" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.143916167G>A" "" "benign" "" "0000446222" "1" "70" "8" "145003680" "145003680" "subst" "0" "01715" "PLEC_000047" "g.145003680G>A" "" "{PMID:Fattahi 2015:25556389}" "" "2941C>T (Gln981X)" "" "Germline" "" "" "0" "" "" "g.143929512G>A" "" "likely pathogenic" "" "0000446223" "2" "70" "8" "144992567" "144992567" "subst" "0" "01715" "PLEC_000046" "g.144992567C>T" "" "{PMID:Fattahi 2015:25556389}" "" "11380G>A (Gly3794Ser)" "" "Germline" "" "" "0" "" "" "g.143918399C>T" "" "likely pathogenic" "" "0000464695" "3" "50" "8" "144997786" "144997786" "subst" "0.00243471" "00430" "PLEC_000344" "g.144997786G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "variant apparently homozygous" "Germline" "" "" "0" "" "" "g.143923618G>A" "" "VUS" "" "0000464696" "1" "50" "8" "145001874" "145001874" "subst" "0.00013215" "00430" "PLEC_000369" "g.145001874G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143927706G>A" "" "VUS" "" "0000464697" "1" "50" "8" "145001746" "145001746" "subst" "0.000662951" "00430" "PLEC_000368" "g.145001746G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143927578G>A" "" "VUS" "" "0000464698" "1" "50" "8" "144999263" "144999263" "subst" "0" "00430" "PLEC_000356" "g.144999263G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "2 Variants in PLEC" "Germline" "" "" "0" "" "" "g.143925095G>A" "" "VUS" "" "0000464699" "1" "50" "8" "144992912" "144992912" "subst" "0.000192786" "00430" "PLEC_000261" "g.144992912C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant in PLEC" "Germline" "" "" "0" "" "" "g.143918744C>T" "" "VUS" "" "0000464700" "1" "50" "8" "144994955" "144994955" "subst" "0.000922384" "00430" "PLEC_000284" "g.144994955C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "8992G>A (E2998K)" "" "Germline" "" "" "0" "" "" "g.143920787C>T" "" "VUS" "" "0000464701" "1" "50" "8" "144998707" "144998707" "subst" "0.000147586" "00430" "PLEC_000285" "g.144998707C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "5348G>A (R1783H)" "no second variant" "Germline" "" "" "0" "" "" "g.143924539C>T" "" "VUS" "" "0000464702" "1" "50" "8" "144993064" "144993064" "subst" "3.28108E-5" "00430" "PLEC_000286" "g.144993064T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "10883A>G (Y3628C)" "no second variant" "Germline" "" "" "0" "" "" "g.143918896T>C" "" "VUS" "" "0000464703" "1" "50" "8" "144996953" "144996953" "subst" "0" "00430" "PLEC_000337" "g.144996953C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143922785C>T" "" "VUS" "" "0000464704" "1" "50" "8" "144995173" "144995173" "subst" "3.66399E-5" "00430" "PLEC_000329" "g.144995173C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143921005C>T" "" "VUS" "" "0000464705" "1" "50" "8" "145004447" "145004447" "subst" "0.000144732" "00430" "PLEC_000377" "g.145004447T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.143930279T>C" "" "VUS" "" "0000464706" "1" "50" "8" "144993617" "144993617" "subst" "0.00012635" "00430" "PLEC_000319" "g.144993617G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143919449G>A" "" "VUS" "" "0000464707" "1" "50" "8" "145001885" "145001885" "subst" "0.000105479" "00430" "PLEC_000370" "g.145001885C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143927717C>T" "" "VUS" "" "0000464708" "1" "50" "8" "145001885" "145001885" "subst" "0.000105479" "00430" "PLEC_000370" "g.145001885C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.143927717C>T" "" "VUS" "" "0000464709" "1" "50" "8" "144993782" "144993782" "subst" "0.000191723" "00430" "PLEC_000322" "g.144993782G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.143919614G>A" "" "VUS" "" "0000464710" "1" "50" "8" "144998116" "144998116" "subst" "9.48533E-6" "00430" "PLEC_000347" "g.144998116A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.143923948A>G" "" "VUS" "" "0000464711" "1" "50" "8" "144992588" "144992588" "subst" "0" "00430" "PLEC_000307" "g.144992588C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.143918420C>T" "" "VUS" "" "0000464712" "1" "50" "8" "145001603" "145001603" "subst" "0.000701559" "00430" "PLEC_000287" "g.145001603A>C" "" "{PMID:Nallamilli 2018:30564623}" "" "3689T>G (V1230G)" "no second variant" "Germline" "" "" "0" "" "" "g.143927435A>C" "" "VUS" "" "0000464713" "1" "50" "8" "144992171" "144992171" "subst" "0.000221957" "00430" "PLEC_000258" "g.144992171C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143918003C>T" "" "VUS" "" "0000464714" "1" "50" "8" "145008167" "145008167" "subst" "0.0002282" "00430" "PLEC_000382" "g.145008167G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143933999G>A" "" "VUS" "" "0000464715" "1" "50" "8" "144993527" "144993527" "subst" "0.000101611" "00430" "PLEC_000316" "g.144993527C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143919359C>T" "" "VUS" "" "0000464716" "1" "50" "8" "144995188" "144995188" "subst" "4.4773E-5" "00430" "PLEC_000330" "g.144995188G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143921020G>A" "" "VUS" "" "0000464717" "1" "50" "8" "145003712" "145003712" "subst" "0.000163076" "00430" "PLEC_000375" "g.145003712C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143929544C>T" "" "VUS" "" "0000464718" "1" "50" "8" "144999746" "144999746" "subst" "0.000638967" "00430" "PLEC_000363" "g.144999746C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.143925578C>T" "" "VUS" "" "0000464719" "1" "50" "8" "144990521" "144990521" "subst" "5.70967E-5" "00430" "PLEC_000294" "g.144990521G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.143916353G>T" "" "VUS" "" "0000464720" "1" "50" "8" "144990878" "144990878" "subst" "0.0003679" "00430" "PLEC_000297" "g.144990878C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.143916710C>T" "" "VUS" "" "0000464721" "1" "50" "8" "144998576" "144998576" "subst" "0.000326723" "00430" "PLEC_000350" "g.144998576C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.143924408C>T" "" "VUS" "" "0000464722" "1" "50" "8" "145003653" "145003653" "subst" "0.000128101" "00430" "PLEC_000374" "g.145003653C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143929485C>T" "" "VUS" "" "0000464723" "1" "50" "8" "144994297" "144994297" "subst" "8.21889E-6" "00430" "PLEC_000323" "g.144994297C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.143920129C>G" "" "VUS" "" "0000464724" "1" "50" "8" "144993773" "144993773" "subst" "3.14635E-5" "00430" "PLEC_000321" "g.144993773G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.143919605G>A" "" "VUS" "" "0000464725" "1" "50" "8" "144999628" "144999628" "subst" "0.000100436" "00430" "PLEC_000361" "g.144999628C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.143925460C>T" "" "VUS" "" "0000464726" "1" "50" "8" "144991271" "144991271" "subst" "0.000282761" "00430" "PLEC_000300" "g.144991271C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.143917103C>T" "" "VUS" "" "0000464727" "1" "50" "8" "145003893" "145003893" "subst" "0.000917497" "00430" "PLEC_000184" "g.145003893G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143929725G>A" "" "VUS" "" "0000464728" "1" "90" "8" "144999842" "144999842" "subst" "0" "00430" "PLEC_000364" "g.144999842G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143925674G>A" "" "pathogenic" "" "0000464729" "1" "50" "8" "144997503" "144997503" "subst" "0.00130853" "00430" "PLEC_000108" "g.144997503G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143923335G>A" "" "VUS" "" "0000464730" "1" "90" "8" "144992704" "144992705" "del" "0" "00430" "PLEC_000310" "g.144992704_144992705del" "" "{PMID:Nallamilli 2018:30564623}" "" "11368_11369delTC" "" "Germline" "" "" "0" "" "" "g.143918536_143918537del" "" "pathogenic" "" "0000464731" "1" "50" "8" "144995478" "144995480" "del" "0" "00430" "PLEC_000332" "g.144995478_144995480del" "" "{PMID:Nallamilli 2018:30564623}" "" "8593_8595delGAG" "" "Germline" "" "" "0" "" "" "g.143921310_143921312del" "" "VUS" "" "0000464732" "1" "50" "8" "144990776" "144990776" "subst" "4.2547E-6" "00430" "PLEC_000295" "g.144990776G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143916608G>A" "" "VUS" "" "0000464733" "1" "50" "8" "145007497" "145007497" "subst" "0" "00430" "PLEC_000380" "g.145007497C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143933329C>T" "" "VUS" "" "0000464734" "1" "90" "8" "144996917" "144996917" "subst" "0" "00430" "PLEC_000335" "g.144996917G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143922749G>A" "" "pathogenic" "" "0000464735" "1" "50" "8" "144995483" "144995483" "subst" "0.00150398" "00430" "PLEC_000333" "g.144995483C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143921315C>T" "" "VUS" "" "0000464736" "1" "50" "8" "144993768" "144993768" "subst" "0" "00430" "PLEC_000320" "g.144993768C>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143919600C>A" "" "VUS" "" "0000464737" "1" "50" "8" "144991252" "144991252" "subst" "2.05256E-5" "00430" "PLEC_000299" "g.144991252C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143917084C>T" "" "VUS" "" "0000464738" "1" "50" "8" "144997899" "144997899" "subst" "0.000230884" "00430" "PLEC_000346" "g.144997899C>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant in PLEC" "Germline" "" "" "0" "" "" "g.143923731C>A" "" "VUS" "" "0000464739" "1" "50" "8" "144995020" "144995020" "subst" "0" "00430" "PLEC_000328" "g.144995020C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant in PLEC" "Germline" "" "" "0" "" "" "g.143920852C>G" "" "VUS" "" "0000464740" "1" "50" "8" "144994955" "144994955" "subst" "0.000922384" "00430" "PLEC_000284" "g.144994955C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant in PLEC" "Germline" "" "" "0" "" "" "g.143920787C>T" "" "VUS" "" "0000464741" "1" "50" "8" "144997015" "144997015" "subst" "2.18986E-5" "00430" "PLEC_000339" "g.144997015G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant in PLEC" "Germline" "" "" "0" "" "" "g.143922847G>A" "" "VUS" "" "0000464742" "1" "50" "8" "144998654" "144998654" "subst" "0.000851564" "00430" "PLEC_000138" "g.144998654G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant in PLEC" "Germline" "" "" "0" "" "" "g.143924486G>A" "" "VUS" "" "0000464743" "1" "50" "8" "144999499" "144999499" "subst" "0.00400156" "00430" "PLEC_000150" "g.144999499C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.143925331C>T" "" "VUS" "" "0000464744" "1" "50" "8" "144993382" "144993382" "subst" "5.28361E-5" "00430" "PLEC_000315" "g.144993382G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143919214G>A" "" "VUS" "" "0000464745" "1" "50" "8" "145008215" "145008215" "subst" "1.66446E-5" "00430" "PLEC_000383" "g.145008215G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.143934047G>A" "" "VUS" "" "0000464746" "1" "50" "8" "144991909" "144991909" "subst" "4.06497E-6" "00430" "PLEC_000288" "g.144991909T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "12038A>G (Q4013R)" "" "Germline" "" "" "0" "" "" "g.143917741T>C" "" "VUS" "" "0000464747" "1" "50" "8" "145009450" "145009450" "subst" "0.000157133" "00430" "PLEC_000289" "g.145009450G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "592C>T (R198W)" "no second variant" "Germline" "" "" "0" "" "" "g.143935282G>A" "" "VUS" "" "0000464748" "1" "50" "8" "145049374" "145049374" "subst" "0" "00430" "PLEC_000384" "g.145049374G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.143975206G>T" "" "VUS" "" "0000464749" "1" "50" "8" "144999446" "144999446" "subst" "0.00243784" "00430" "PLEC_000149" "g.144999446G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "4609C>T (R1537C)" "no second variant" "Germline" "" "" "0" "" "" "g.143925278G>A" "" "VUS" "" "0000464750" "1" "50" "8" "145001482" "145001482" "subst" "0.00050627" "00430" "PLEC_000290" "g.145001482G>C" "" "{PMID:Nallamilli 2018:30564623}" "" "3736C>G (R1246G)" "" "Germline" "" "" "0" "" "" "g.143927314G>C" "" "VUS" "" "0000464751" "1" "50" "8" "144995144" "144995144" "subst" "0.000207985" "00430" "PLEC_000291" "g.144995144G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "8803C>T (R2935W)" "" "Germline" "" "" "0" "" "" "g.143920976G>A" "" "VUS" "" "0000464752" "1" "50" "8" "144995144" "144995144" "subst" "0.000207985" "00430" "PLEC_000291" "g.144995144G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "8803C>T (R2935W)" "" "Germline" "" "" "0" "" "" "g.143920976G>A" "" "VUS" "" "0000464753" "1" "50" "8" "144997615" "144997615" "subst" "0" "00430" "PLEC_000342" "g.144997615T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143923447T>C" "" "VUS" "" "0000464754" "1" "50" "8" "144997615" "144997615" "subst" "0" "00430" "PLEC_000342" "g.144997615T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143923447T>C" "" "VUS" "" "0000464755" "1" "50" "8" "144996953" "144996953" "subst" "0" "00430" "PLEC_000337" "g.144996953C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143922785C>T" "" "VUS" "" "0000464756" "1" "50" "8" "144991637" "144991637" "subst" "0.000113761" "00430" "PLEC_000303" "g.144991637G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143917469G>A" "" "VUS" "" "0000464757" "1" "50" "8" "144999701" "144999701" "subst" "0" "00430" "PLEC_000362" "g.144999701G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143925533G>A" "" "VUS" "" "0000464758" "1" "50" "8" "144999499" "144999499" "subst" "0.00400156" "00430" "PLEC_000150" "g.144999499C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143925331C>T" "" "VUS" "" "0000464759" "1" "50" "8" "144999446" "144999446" "subst" "0.00243784" "00430" "PLEC_000149" "g.144999446G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "4609C>T (R1537C)" "" "Germline" "" "" "0" "" "" "g.143925278G>A" "" "VUS" "" "0000464760" "1" "50" "8" "144997819" "144997819" "subst" "0.000130082" "00430" "PLEC_000345" "g.144997819G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143923651G>A" "" "VUS" "" "0000464761" "1" "50" "8" "144998870" "144998870" "subst" "0.000451802" "00430" "PLEC_000353" "g.144998870C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.143924702C>T" "" "VUS" "" "0000464762" "1" "50" "8" "144995144" "144995144" "subst" "0.000207985" "00430" "PLEC_000291" "g.144995144G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "8803C>T (R2935W)" "" "Germline" "" "" "0" "" "" "g.143920976G>A" "" "VUS" "" "0000464763" "1" "50" "8" "145003302" "145003302" "subst" "0" "00430" "PLEC_000372" "g.145003302C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143929134C>T" "" "VUS" "" "0000464764" "1" "50" "8" "144997615" "144997615" "subst" "0" "00430" "PLEC_000342" "g.144997615T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143923447T>C" "" "VUS" "" "0000464765" "1" "50" "8" "144997561" "144997561" "subst" "0.000480508" "00430" "PLEC_000292" "g.144997561C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "6494G>A (R2165Q)" "no second variant" "Germline" "" "" "0" "" "" "g.143923393C>T" "" "VUS" "" "0000464766" "1" "50" "8" "144997577" "144997577" "subst" "1.69648E-5" "00430" "PLEC_000341" "g.144997577C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143923409C>T" "" "VUS" "" "0000464767" "1" "50" "8" "144993577" "144993577" "subst" "1.22405E-5" "00430" "PLEC_000318" "g.144993577G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143919409G>A" "" "VUS" "" "0000464768" "1" "50" "8" "144998132" "144998132" "subst" "0.000177772" "00430" "PLEC_000348" "g.144998132G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143923964G>A" "" "VUS" "" "0000464769" "1" "50" "8" "144999536" "144999536" "subst" "7.51559E-5" "00430" "PLEC_000359" "g.144999536C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143925368C>T" "" "VUS" "" "0000464770" "1" "50" "8" "144998766" "144998766" "subst" "6.36771E-5" "00430" "PLEC_000352" "g.144998766C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143924598C>G" "" "VUS" "" "0000464771" "1" "50" "8" "144994330" "144994330" "subst" "3.76358E-5" "00430" "PLEC_000324" "g.144994330C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.143920162C>T" "" "VUS" "" "0000464772" "1" "50" "8" "144996953" "144996953" "subst" "0" "00430" "PLEC_000337" "g.144996953C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.143922785C>T" "" "VUS" "" "0000464773" "1" "50" "8" "144996236" "144996236" "subst" "0.000938908" "00430" "PLEC_000052" "g.144996236C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143922068C>G" "" "VUS" "" "0000464774" "1" "50" "8" "144997255" "144997255" "subst" "6.27054E-5" "00430" "PLEC_000340" "g.144997255G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143923087G>A" "" "VUS" "" "0000464775" "1" "50" "8" "144995483" "144995483" "subst" "0.00150398" "00430" "PLEC_000333" "g.144995483C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143921315C>T" "" "VUS" "" "0000464776" "1" "50" "8" "144992660" "144992660" "subst" "0.000335866" "00430" "PLEC_000308" "g.144992660C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.143918492C>T" "" "VUS" "" "0000464777" "1" "50" "8" "145003389" "145003389" "subst" "0.000339881" "00430" "PLEC_000373" "g.145003389C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.143929221C>T" "" "VUS" "" "0000464778" "1" "50" "8" "144993257" "144993257" "subst" "2.88251E-5" "00430" "PLEC_000314" "g.144993257C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.143919089C>T" "" "VUS" "" "0000464779" "1" "50" "8" "144992852" "144992852" "subst" "0.000202474" "00430" "PLEC_000313" "g.144992852C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.143918684C>T" "" "VUS" "" "0000464780" "1" "50" "8" "144999154" "144999154" "subst" "0" "00430" "PLEC_000354" "g.144999154G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143924986G>A" "" "VUS" "" "0000464781" "1" "50" "8" "145001673" "145001673" "subst" "1.36064E-5" "00430" "PLEC_000367" "g.145001673C>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143927505C>A" "" "VUS" "" "0000464782" "1" "50" "8" "144995807" "144995807" "subst" "0.00122465" "00430" "PLEC_000334" "g.144995807T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143921639T>C" "" "VUS" "" "0000464783" "1" "50" "8" "144995483" "144995483" "subst" "0.00150398" "00430" "PLEC_000333" "g.144995483C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143921315C>T" "" "VUS" "" "0000464784" "1" "50" "8" "144998626" "144998626" "subst" "0.00135063" "00430" "PLEC_000351" "g.144998626G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143924458G>A" "" "VUS" "" "0000464785" "1" "50" "8" "145007516" "145007516" "subst" "0" "00430" "PLEC_000381" "g.145007516C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143933348C>T" "" "VUS" "" "0000464786" "1" "50" "8" "144997784" "144997784" "subst" "0.000497722" "00430" "PLEC_000343" "g.144997784C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.143923616C>T" "" "VUS" "" "0000464787" "1" "50" "8" "144994955" "144994955" "subst" "0.000922384" "00430" "PLEC_000284" "g.144994955C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143920787C>T" "" "VUS" "" "0000464788" "1" "50" "8" "144995396" "144995396" "subst" "0" "00430" "PLEC_000331" "g.144995396G>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143921228G>C" "" "VUS" "" "0000464789" "1" "50" "8" "144992465" "144992465" "subst" "0.000312414" "00430" "PLEC_000306" "g.144992465C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143918297C>T" "" "VUS" "" "0000464790" "1" "50" "8" "144996976" "144996976" "subst" "0.000632124" "00430" "PLEC_000338" "g.144996976C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.143922808C>T" "" "VUS" "" "0000464791" "1" "50" "8" "144999242" "144999242" "subst" "9.26383E-5" "00430" "PLEC_000355" "g.144999242C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.143925074C>T" "" "VUS" "" "0000464792" "1" "50" "8" "145002053" "145002053" "subst" "0.000197814" "00430" "PLEC_000371" "g.145002053G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.143927885G>A" "" "VUS" "" "0000464793" "1" "50" "8" "144999446" "144999446" "subst" "0.00243784" "00430" "PLEC_000149" "g.144999446G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143925278G>A" "" "VUS" "" "0000464794" "1" "50" "8" "144999446" "144999446" "subst" "0.00243784" "00430" "PLEC_000149" "g.144999446G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143925278G>A" "" "VUS" "" "0000464795" "1" "50" "8" "144992153" "144992153" "subst" "8.18599E-5" "00430" "PLEC_000304" "g.144992153G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.143917985G>A" "" "VUS" "" "0000464796" "1" "50" "8" "144996926" "144996926" "subst" "2.55931E-5" "00430" "PLEC_000336" "g.144996926C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143922758C>T" "" "VUS" "" "0000464797" "1" "50" "8" "145007139" "145007139" "subst" "6.59712E-5" "00430" "PLEC_000379" "g.145007139G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.143932971G>A" "" "VUS" "" "0000464798" "1" "50" "8" "145008215" "145008215" "subst" "1.66446E-5" "00430" "PLEC_000383" "g.145008215G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.143934047G>A" "" "VUS" "" "0000464799" "1" "50" "8" "144992222" "144992222" "subst" "0" "00430" "PLEC_000305" "g.144992222T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143918054T>C" "" "VUS" "" "0000464800" "1" "50" "8" "144991551" "144991551" "subst" "4.0811E-6" "00430" "PLEC_000302" "g.144991551G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143917383G>A" "" "VUS" "" "0000464801" "1" "50" "8" "144995483" "144995483" "subst" "0.00150398" "00430" "PLEC_000333" "g.144995483C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143921315C>T" "" "VUS" "" "0000464802" "1" "50" "8" "145008497" "145008497" "subst" "0.00107236" "00430" "PLEC_000211" "g.145008497G>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143934329G>C" "" "VUS" "" "0000464803" "1" "50" "8" "144998504" "144998504" "subst" "3.22037E-5" "00430" "PLEC_000349" "g.144998504G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143924336G>A" "" "VUS" "" "0000464804" "1" "50" "8" "144991306" "144991306" "subst" "0" "00430" "PLEC_000301" "g.144991306G>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143917138G>C" "" "VUS" "" "0000464805" "1" "50" "8" "144998116" "144998116" "subst" "9.48533E-6" "00430" "PLEC_000347" "g.144998116A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143923948A>G" "" "VUS" "" "0000464806" "1" "50" "8" "0" "0" "" "0" "00430" "RP1_000000" "g.?" "" "{PMID:Nallamilli 2018:30564623}" "" "7136C>T (T2388M)" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000464807" "1" "50" "8" "144991126" "144991126" "subst" "4.9274E-5" "00430" "PLEC_000298" "g.144991126G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.143916958G>A" "" "VUS" "" "0000464808" "1" "50" "8" "144999541" "144999542" "inv" "0" "00430" "PLEC_000360" "g.144999541_144999542inv" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.143925373_143925374inv" "" "VUS" "" "0000464809" "1" "50" "8" "144992782" "144992782" "subst" "0.000345522" "00430" "PLEC_000312" "g.144992782G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143918614G>A" "" "VUS" "" "0000464810" "1" "50" "8" "145008497" "145008497" "subst" "0.00107236" "00430" "PLEC_000211" "g.145008497G>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143934329G>C" "" "VUS" "" "0000464811" "1" "50" "8" "145000019" "145000019" "subst" "6.97798E-5" "00430" "PLEC_000365" "g.145000019C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143925851C>T" "" "VUS" "" "0000464812" "1" "50" "8" "144999533" "144999562" "del" "0" "00430" "PLEC_000358" "g.144999533_144999562del" "" "{PMID:Nallamilli 2018:30564623}" "" "4620_4649del30" "" "Germline" "" "" "0" "" "" "g.143925365_143925394del" "" "VUS" "" "0000464813" "1" "50" "8" "144993782" "144993782" "subst" "0.000191723" "00430" "PLEC_000322" "g.144993782G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143919614G>A" "" "VUS" "" "0000464814" "1" "50" "8" "144994757" "144994757" "subst" "2.0811E-5" "00430" "PLEC_000326" "g.144994757C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143920589C>T" "" "VUS" "" "0000464815" "1" "50" "8" "145001194" "145001194" "subst" "3.67626E-5" "00430" "PLEC_000366" "g.145001194G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143927026G>A" "" "VUS" "" "0000464816" "1" "90" "8" "144994988" "144994989" "delins" "0" "00430" "PLEC_000327" "g.144994988_144994989delinsAA" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.143920820_143920821delinsAA" "" "pathogenic" "" "0000464817" "1" "50" "8" "144992680" "144992680" "subst" "0" "00430" "PLEC_000309" "g.144992680C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143918512C>T" "" "VUS" "" "0000464818" "1" "90" "8" "144994430" "144994431" "del" "0" "00430" "PLEC_000325" "g.144994430_144994431del" "" "{PMID:Nallamilli 2018:30564623}" "" "9639_9640delAG" "" "Germline" "" "" "0" "" "" "g.143920262_143920263del" "" "pathogenic" "" "0000464819" "1" "50" "8" "144994412" "144994412" "subst" "0.000110507" "00430" "PLEC_000293" "g.144994412C>A" "" "{PMID:Nallamilli 2018:30564623}" "" "9658C>T (G3220C)" "" "Germline" "" "" "0" "" "" "g.143920244C>A" "" "VUS" "" "0000464820" "1" "50" "8" "144990817" "144990817" "subst" "4.15489E-6" "00430" "PLEC_000296" "g.144990817T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143916649T>C" "" "VUS" "" "0000464821" "1" "90" "8" "144999422" "144999422" "subst" "0" "00430" "PLEC_000357" "g.144999422G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143925254G>A" "" "pathogenic" "" "0000464822" "1" "90" "8" "145004680" "145004681" "dup" "0" "00430" "PLEC_000378" "g.145004680_145004681dup" "" "{PMID:Nallamilli 2018:30564623}" "" "2409_2410dupGT" "no second variant" "Germline" "" "" "0" "" "" "g.143930512_143930513dup" "" "pathogenic" "" "0000464823" "1" "50" "8" "144993545" "144993545" "subst" "2.03441E-5" "00430" "PLEC_000317" "g.144993545G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant in PLEC" "Germline" "" "" "0" "" "" "g.143919377G>A" "" "VUS" "" "0000464824" "1" "50" "8" "144992725" "144992725" "subst" "0" "00430" "PLEC_000311" "g.144992725G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143918557G>T" "" "VUS" "" "0000464825" "1" "50" "8" "145004445" "145004453" "del" "0" "00430" "PLEC_000376" "g.145004445_145004453del" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.143930277_143930285del" "" "VUS" "" "0000533960" "0" "30" "8" "144990414" "144990414" "subst" "0.00107826" "01804" "PLEC_000385" "g.144990414C>T" "" "" "" "PLEC(NM_000445.3):c.13656G>A (p.(Ser4552=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143916246C>T" "" "likely benign" "" "0000533961" "0" "30" "8" "144990453" "144990453" "subst" "0" "01804" "PLEC_000386" "g.144990453G>A" "" "" "" "PLEC(NM_000445.3):c.13617C>T (p.(Gly4539=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143916285G>A" "" "likely benign" "" "0000533963" "0" "30" "8" "144990510" "144990510" "subst" "0.000758274" "01943" "PLEC_000058" "g.144990510C>T" "" "" "" "PLEC(NM_201380.3):c.13890G>A (p.S4630=), PLEC(NM_201380.4):c.13890G>A (p.S4630=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143916342C>T" "" "likely benign" "" "0000533964" "0" "30" "8" "144990516" "144990516" "subst" "5.76083E-5" "01943" "PLEC_000388" "g.144990516G>A" "" "" "" "PLEC(NM_201380.3):c.13884C>T (p.T4628=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143916348G>A" "" "likely benign" "" "0000533965" "0" "50" "8" "144990644" "144990644" "subst" "8.36316E-6" "02329" "PLEC_000389" "g.144990644C>T" "" "" "" "PLEC(NM_201380.4):c.13756G>A (p.A4586T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143916476C>T" "" "VUS" "" "0000533967" "0" "50" "8" "144990997" "144990997" "subst" "0.000130327" "02327" "PLEC_000393" "g.144990997G>A" "" "" "" "PLEC(NM_201384.3):c.12992C>T (p.(Pro4331Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143916829G>A" "" "VUS" "" "0000533968" "0" "50" "8" "144991082" "144991082" "subst" "0.000294515" "01804" "PLEC_000394" "g.144991082C>T" "" "" "" "PLEC(NM_000445.3):c.12988G>A (p.(Val4330Met)), PLEC(NM_201380.3):c.13318G>A (p.V4440M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143916914C>T" "" "VUS" "" "0000533969" "0" "30" "8" "144991142" "144991142" "subst" "0" "01804" "PLEC_000395" "g.144991142T>C" "" "" "" "PLEC(NM_000445.3):c.12928A>G (p.(Ile4310Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143916974T>C" "" "likely benign" "" "0000533972" "0" "30" "8" "144991295" "144991295" "subst" "4.08744E-6" "01804" "PLEC_000399" "g.144991295A>G" "" "" "" "PLEC(NM_000445.3):c.12775T>C (p.(Phe4259Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143917127A>G" "" "likely benign" "" "0000533973" "0" "50" "8" "144991346" "144991346" "subst" "1.6278E-5" "02327" "PLEC_000400" "g.144991346C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143917178C>T" "" "VUS" "" "0000533975" "0" "30" "8" "144991347" "144991347" "subst" "0.0018027" "01943" "PLEC_000401" "g.144991347G>A" "" "" "" "PLEC(NM_000445.3):c.12723C>T (p.(Ile4241=)), PLEC(NM_201380.3):c.13053C>T (p.I4351=), PLEC(NM_201380.4):c.13053C>T (p.I4351=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143917179G>A" "" "likely benign" "" "0000533976" "0" "30" "8" "144991347" "144991347" "subst" "0.0018027" "01804" "PLEC_000401" "g.144991347G>A" "" "" "" "PLEC(NM_000445.3):c.12723C>T (p.(Ile4241=)), PLEC(NM_201380.3):c.13053C>T (p.I4351=), PLEC(NM_201380.4):c.13053C>T (p.I4351=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143917179G>A" "" "likely benign" "" "0000533977" "0" "30" "8" "144991392" "144991392" "subst" "4.47817E-5" "01943" "PLEC_000402" "g.144991392G>A" "" "" "" "PLEC(NM_201380.3):c.13008C>T (p.S4336=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143917224G>A" "" "likely benign" "" "0000533978" "0" "30" "8" "144991428" "144991428" "subst" "0.0205976" "01804" "PLEC_000251" "g.144991428G>A" "" "" "" "PLEC(NM_000445.3):c.12642C>T (p.(=)), PLEC(NM_201380.4):c.12972C>T (p.D4324=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143917260G>A" "" "likely benign" "" "0000533979" "0" "30" "8" "144991524" "144991524" "subst" "0.00021315" "01804" "PLEC_000403" "g.144991524G>A" "" "" "" "PLEC(NM_000445.3):c.12546C>T (p.(Tyr4182=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143917356G>A" "" "likely benign" "" "0000533980" "0" "30" "8" "144991600" "144991600" "subst" "4.06712E-6" "01804" "PLEC_000404" "g.144991600G>A" "" "" "" "PLEC(NM_000445.3):c.12470C>T (p.(Thr4157Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143917432G>A" "" "likely benign" "" "0000533982" "0" "30" "8" "144991746" "144991746" "subst" "0.000763743" "01804" "PLEC_000405" "g.144991746G>A" "" "" "" "PLEC(NM_000445.3):c.12324C>T (p.(Thr4108=)), PLEC(NM_201380.3):c.12654C>T (p.T4218=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143917578G>A" "" "likely benign" "" "0000533984" "0" "30" "8" "144991802" "144991802" "subst" "6.0983E-5" "01943" "PLEC_000407" "g.144991802C>T" "" "" "" "PLEC(NM_201380.3):c.12598G>A (p.V4200M), PLEC(NM_201384.3):c.12187G>A (p.(Val4063Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143917634C>T" "" "likely benign" "" "0000533985" "0" "30" "8" "144992049" "144992049" "subst" "0.00756367" "01804" "PLEC_000255" "g.144992049G>A" "" "" "" "PLEC(NM_000445.3):c.12021C>T (p.(Ile4007=)), PLEC(NM_201380.4):c.12351C>T (p.I4117=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143917881G>A" "" "likely benign" "" "0000533986" "0" "30" "8" "144992076" "144992076" "subst" "0.00848528" "01804" "PLEC_000409" "g.144992076C>T" "" "" "" "PLEC(NM_000445.3):c.11994G>A (p.(Ala3998=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143917908C>T" "" "likely benign" "" "0000533987" "0" "30" "8" "144992193" "144992193" "subst" "1.25862E-5" "01943" "PLEC_000060" "g.144992193G>A" "" "" "" "PLEC(NM_201380.3):c.12207C>T (p.T4069=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143918025G>A" "" "likely benign" "" "0000533988" "0" "50" "8" "144992231" "144992231" "subst" "4.53786E-6" "01943" "PLEC_000061" "g.144992231C>G" "" "" "" "PLEC(NM_000445.3):c.11839G>C (p.(Glu3947Gln)), PLEC(NM_201380.3):c.12169G>C (p.E4057Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143918063C>G" "" "VUS" "" "0000533989" "0" "30" "8" "144992269" "144992269" "subst" "0.00758434" "01804" "PLEC_000062" "g.144992269G>A" "" "" "" "PLEC(NM_000445.3):c.11801C>T (p.(Thr3934Met)), PLEC(NM_201380.4):c.12131C>T (p.T4044M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143918101G>A" "" "likely benign" "" "0000533990" "0" "30" "8" "144992388" "144992388" "subst" "0.0110843" "01804" "PLEC_000410" "g.144992388G>A" "" "" "" "PLEC(NM_000445.3):c.11682C>T (p.(Asp3894=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143918220G>A" "" "likely benign" "" "0000533991" "0" "30" "8" "144992390" "144992390" "subst" "0.00851877" "01804" "PLEC_000411" "g.144992390C>G" "" "" "" "PLEC(NM_000445.3):c.11680G>C (p.(Asp3894His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143918222C>G" "" "likely benign" "" "0000533992" "0" "50" "8" "144992393" "144992393" "subst" "1.44979E-5" "01943" "PLEC_000412" "g.144992393G>A" "" "" "" "PLEC(NM_000445.5):c.11677C>T (p.R3893C), PLEC(NM_201380.3):c.12007C>T (p.R4003C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143918225G>A" "" "VUS" "" "0000533993" "0" "10" "8" "144992781" "144992781" "subst" "0.00365097" "01943" "PLEC_000413" "g.144992781C>T" "" "" "" "PLEC(NM_000445.3):c.11289G>A (p.(Pro3763=)), PLEC(NM_201380.3):c.11619G>A (p.P3873=), PLEC(NM_201380.4):c.11619G>A (p.P3873=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143918613C>T" "" "benign" "" "0000533994" "0" "50" "8" "144992852" "144992852" "subst" "0.000202474" "01943" "PLEC_000313" "g.144992852C>T" "" "" "" "PLEC(NM_201380.3):c.11548G>A (p.G3850R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143918684C>T" "" "VUS" "" "0000533995" "0" "30" "8" "144992953" "144992953" "subst" "0.00038893" "01804" "PLEC_000415" "g.144992953G>A" "" "" "" "PLEC(NM_000445.3):c.11117C>T (p.(Ala3706Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143918785G>A" "" "likely benign" "" "0000533996" "0" "30" "8" "144993068" "144993068" "subst" "0.000151863" "01943" "PLEC_000417" "g.144993068C>T" "" "" "" "PLEC(NM_201380.3):c.11332G>A (p.D3778N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143918900C>T" "" "likely benign" "" "0000533997" "0" "50" "8" "144993155" "144993155" "subst" "0.000229653" "01943" "PLEC_000418" "g.144993155G>A" "" "" "" "PLEC(NM_201380.3):c.11245C>T (p.R3749W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143918987G>A" "" "VUS" "" "0000533998" "0" "30" "8" "144993159" "144993159" "subst" "0.000922328" "01804" "PLEC_000419" "g.144993159G>A" "" "" "" "PLEC(NM_000445.3):c.10911C>T (p.(Ala3637=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143918991G>A" "" "likely benign" "" "0000534000" "0" "30" "8" "144993651" "144993651" "subst" "0.000806629" "01804" "PLEC_000421" "g.144993651G>A" "" "" "" "PLEC(NM_000445.3):c.10419C>T (p.(Ser3473=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143919483G>A" "" "likely benign" "" "0000534001" "0" "50" "8" "144993703" "144993703" "subst" "3.69759E-5" "01943" "PLEC_000422" "g.144993703G>A" "" "" "" "PLEC(NM_201380.3):c.10697C>T (p.A3566V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143919535G>A" "" "VUS" "" "0000534002" "0" "50" "8" "144993782" "144993782" "subst" "0.000191723" "01804" "PLEC_000322" "g.144993782G>A" "" "" "" "PLEC(NM_000445.3):c.10288C>T (p.(Arg3430Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143919614G>A" "" "VUS" "" "0000534004" "0" "50" "8" "144993931" "144993931" "subst" "0.0110024" "02330" "PLEC_000424" "g.144993931C>G" "" "" "" "PLEC(NM_000445.3):c.10139G>C (p.(Gly3380Ala)), PLEC(NM_201380.4):c.10469G>C (p.G3490A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143919763C>G" "" "VUS" "" "0000534005" "0" "30" "8" "144993931" "144993931" "subst" "0.0110024" "01804" "PLEC_000424" "g.144993931C>G" "" "" "" "PLEC(NM_000445.3):c.10139G>C (p.(Gly3380Ala)), PLEC(NM_201380.4):c.10469G>C (p.G3490A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143919763C>G" "" "likely benign" "" "0000534006" "0" "30" "8" "144993931" "144993931" "subst" "0.0110024" "02326" "PLEC_000424" "g.144993931C>G" "" "" "" "PLEC(NM_000445.3):c.10139G>C (p.(Gly3380Ala)), PLEC(NM_201380.4):c.10469G>C (p.G3490A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143919763C>G" "" "likely benign" "" "0000534008" "0" "30" "8" "144993975" "144993975" "subst" "0.00978169" "01804" "PLEC_000426" "g.144993975G>A" "" "" "" "PLEC(NM_000445.3):c.10095C>T (p.(Val3365=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143919807G>A" "" "likely benign" "" "0000534010" "0" "30" "8" "144994028" "144994028" "subst" "0.0056043" "01804" "PLEC_000269" "g.144994028C>T" "" "" "" "PLEC(NM_000445.3):c.10042G>A (p.(Gly3348Arg)), PLEC(NM_201380.4):c.10372G>A (p.G3458R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143919860C>T" "" "likely benign" "" "0000534012" "0" "50" "8" "144994064" "144994064" "subst" "0.00475608" "02330" "PLEC_000430" "g.144994064G>A" "" "" "" "PLEC(NM_000445.3):c.10006C>T (p.(Arg3336Cys)), PLEC(NM_201380.3):c.10336C>T (p.R3446C), PLEC(NM_201380.4):c.10336C>T (p.R3446C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143919896G>A" "" "VUS" "" "0000534013" "0" "30" "8" "144994064" "144994064" "subst" "0.00475608" "02325" "PLEC_000430" "g.144994064G>A" "" "" "" "PLEC(NM_000445.3):c.10006C>T (p.(Arg3336Cys)), PLEC(NM_201380.3):c.10336C>T (p.R3446C), PLEC(NM_201380.4):c.10336C>T (p.R3446C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143919896G>A" "" "likely benign" "" "0000534014" "0" "30" "8" "144994064" "144994064" "subst" "0.00475608" "02326" "PLEC_000430" "g.144994064G>A" "" "" "" "PLEC(NM_000445.3):c.10006C>T (p.(Arg3336Cys)), PLEC(NM_201380.3):c.10336C>T (p.R3446C), PLEC(NM_201380.4):c.10336C>T (p.R3446C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143919896G>A" "" "likely benign" "" "0000534016" "0" "50" "8" "144994148" "144994148" "subst" "0.000207417" "01943" "PLEC_000432" "g.144994148C>T" "" "" "" "PLEC(NM_000445.3):c.9922G>A (p.(Val3308Met)), PLEC(NM_201380.3):c.10252G>A (p.V3418M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143919980C>T" "" "VUS" "" "0000534017" "0" "30" "8" "144994175" "144994175" "subst" "5.69926E-5" "01804" "PLEC_000433" "g.144994175G>A" "" "" "" "PLEC(NM_000445.3):c.9895C>T (p.(Arg3299Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143920007G>A" "" "likely benign" "" "0000534018" "0" "30" "8" "144994212" "144994212" "subst" "0.0241336" "01804" "PLEC_000035" "g.144994212A>T" "" "" "" "PLEC(NM_000445.3):c.9858T>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143920044A>T" "" "likely benign" "" "0000534020" "0" "30" "8" "144994457" "144994457" "subst" "0.000210565" "01943" "PLEC_000436" "g.144994457C>T" "" "" "" "PLEC(NM_201380.3):c.9943G>A (p.A3315T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143920289C>T" "" "likely benign" "" "0000534021" "0" "30" "8" "144994550" "144994550" "subst" "0" "01943" "PLEC_000437" "g.144994550T>C" "" "" "" "PLEC(NM_201380.3):c.9850A>G (p.S3284G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143920382T>C" "" "likely benign" "" "0000534022" "0" "10" "8" "144994554" "144994554" "subst" "0.00169145" "01943" "PLEC_000438" "g.144994554G>A" "" "" "" "PLEC(NM_000445.3):c.9516C>T (p.(=)), PLEC(NM_201380.3):c.9846C>T (p.D3282=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143920386G>A" "" "benign" "" "0000534023" "0" "30" "8" "144994818" "144994818" "subst" "0" "01943" "PLEC_000439" "g.144994818C>A" "" "" "" "PLEC(NM_201380.3):c.9582G>T (p.L3194=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143920650C>A" "" "likely benign" "" "0000534024" "0" "50" "8" "144994908" "144994908" "subst" "0.000913141" "01804" "PLEC_000440" "g.144994908C>T" "" "" "" "PLEC(NM_000445.3):c.9162G>A (p.(Ala3054=)), PLEC(NM_201380.3):c.9492G>A (p.A3164=), PLEC(NM_201380.4):c.9492G>A (p.A3164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143920740C>T" "" "VUS" "" "0000534025" "0" "10" "8" "144994916" "144994916" "subst" "0.0197031" "01804" "PLEC_000034" "g.144994916C>T" "" "" "" "PLEC(NM_000445.3):c.9154G>A (p.(Val3052Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143920748C>T" "" "benign" "" "0000534026" "0" "50" "8" "144994940" "144994940" "subst" "0.000310195" "01943" "PLEC_000441" "g.144994940G>A" "" "" "" "PLEC(NM_201380.3):c.9460C>T (p.R3154W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143920772G>A" "" "VUS" "" "0000534027" "0" "30" "8" "144995013" "144995013" "subst" "0.000203924" "01804" "PLEC_000442" "g.144995013G>A" "" "" "" "PLEC(NM_000445.3):c.9057C>T (p.(Ile3019=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143920845G>A" "" "likely benign" "" "0000534028" "0" "30" "8" "144995112" "144995112" "subst" "0.000694921" "01804" "PLEC_000444" "g.144995112G>T" "" "" "" "PLEC(NM_000445.3):c.8958C>A (p.(Ile2986=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143920944G>T" "" "likely benign" "" "0000534029" "0" "30" "8" "144995169" "144995169" "subst" "0.0197837" "01804" "PLEC_000073" "g.144995169G>C" "" "" "" "PLEC(NM_000445.3):c.8901C>G (p.(Asp2967Glu)), PLEC(NM_201380.4):c.9231C>G (p.D3077E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143921001G>C" "" "likely benign" "" "0000534030" "0" "30" "8" "144995227" "144995227" "subst" "0.000118354" "01804" "PLEC_000074" "g.144995227G>A" "" "" "" "PLEC(NM_000445.3):c.8843C>T (p.(Thr2948Met)), PLEC(NM_201380.3):c.9173C>T (p.T3058M), PLEC(NM_201380.4):c.9173C>T (p.T3058M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143921059G>A" "" "likely benign" "" "0000534032" "0" "30" "8" "144995292" "144995292" "subst" "0.000765535" "01804" "PLEC_000445" "g.144995292G>A" "" "" "" "PLEC(NM_000445.3):c.8778C>T (p.(Ser2926=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143921124G>A" "" "likely benign" "" "0000534033" "0" "50" "8" "144995359" "144995359" "subst" "6.90625E-5" "01804" "PLEC_000446" "g.144995359G>A" "" "" "" "PLEC(NM_000445.3):c.8711C>T (p.(Thr2904Met)), PLEC(NM_000445.5):c.8711C>T (p.T2904M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143921191G>A" "" "VUS" "" "0000534035" "0" "30" "8" "144995480" "144995480" "subst" "0.00158488" "01943" "PLEC_000079" "g.144995480C>T" "" "" "" "PLEC(NM_000445.3):c.8590G>A (p.(Glu2864Lys)), PLEC(NM_201380.3):c.8920G>A (p.E2974K), PLEC(NM_201380.4):c.8920G>A (p.E2974K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143921312C>T" "" "likely benign" "" "0000534036" "0" "30" "8" "144995483" "144995483" "subst" "0.00150398" "01804" "PLEC_000333" "g.144995483C>T" "" "" "" "PLEC(NM_000445.3):c.8587G>A (p.(Asp2863Asn)), PLEC(NM_201380.4):c.8917G>A (p.D2973N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143921315C>T" "" "likely benign" "" "0000534037" "0" "50" "8" "144995492" "144995492" "subst" "4.47278E-5" "01804" "PLEC_000448" "g.144995492C>T" "" "" "" "PLEC(NM_000445.3):c.8578G>A (p.(Gly2860Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143921324C>T" "" "VUS" "" "0000534038" "0" "30" "8" "144995519" "144995519" "subst" "4.48577E-5" "01943" "PLEC_000449" "g.144995519C>T" "" "" "" "PLEC(NM_201380.3):c.8881G>A (p.V2961M), PLEC(NM_201384.1):c.8470G>A (p.(Val2824Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143921351C>T" "" "likely benign" "" "0000534039" "0" "50" "8" "144995655" "144995655" "subst" "2.0424E-5" "01943" "PLEC_000450" "g.144995655C>G" "" "" "" "PLEC(NM_201380.3):c.8745G>C (p.K2915N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143921487C>G" "" "VUS" "" "0000534040" "0" "30" "8" "144995670" "144995670" "subst" "0.0138689" "01804" "PLEC_000089" "g.144995670G>A" "" "" "" "PLEC(NM_000445.3):c.8400C>T (p.(=)), PLEC(NM_201380.4):c.8730C>T (p.A2910=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143921502G>A" "" "likely benign" "" "0000534042" "0" "50" "8" "144996038" "144996038" "subst" "0.00136836" "01943" "PLEC_000452" "g.144996038G>A" "" "" "" "PLEC(NM_000445.3):c.8032C>T (p.(Arg2678Trp)), PLEC(NM_201380.3):c.8362C>T (p.R2788W), PLEC(NM_201380.4):c.8362C>T (p.R2788W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143921870G>A" "" "VUS" "" "0000534043" "0" "30" "8" "144996038" "144996038" "subst" "0.00136836" "02326" "PLEC_000452" "g.144996038G>A" "" "" "" "PLEC(NM_000445.3):c.8032C>T (p.(Arg2678Trp)), PLEC(NM_201380.3):c.8362C>T (p.R2788W), PLEC(NM_201380.4):c.8362C>T (p.R2788W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143921870G>A" "" "likely benign" "" "0000534044" "0" "30" "8" "144996050" "144996050" "subst" "7.53887E-5" "01804" "PLEC_000453" "g.144996050C>T" "" "" "" "PLEC(NM_000445.3):c.8020G>A (p.(Asp2674Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143921882C>T" "" "likely benign" "" "0000534045" "0" "30" "8" "144996263" "144996263" "subst" "0.0132665" "01804" "PLEC_000454" "g.144996263G>A" "" "" "" "PLEC(NM_000445.3):c.7807C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143922095G>A" "" "likely benign" "" "0000534046" "0" "30" "8" "144996286" "144996286" "subst" "0.00013578" "01943" "PLEC_000455" "g.144996286C>T" "" "" "" "PLEC(NM_201380.3):c.8114G>A (p.R2705H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143922118C>T" "" "likely benign" "" "0000534048" "0" "50" "8" "144996320" "144996320" "subst" "0.000389408" "01943" "PLEC_000096" "g.144996320G>A" "" "" "" "PLEC(NM_000445.3):c.7750C>T (p.(Arg2584Trp)), PLEC(NM_000445.5):c.7750C>T (p.R2584W), PLEC(NM_201380.3):c.8080C>T (p.R2694W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143922152G>A" "" "VUS" "" "0000534049" "0" "30" "8" "144996786" "144996786" "subst" "1.2224E-5" "01943" "PLEC_000457" "g.144996786C>T" "" "" "" "PLEC(NM_201380.3):c.7722G>A (p.Q2574=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143922618C>T" "" "likely benign" "" "0000534050" "0" "30" "8" "144996830" "144996830" "subst" "0.00278932" "01943" "PLEC_000099" "g.144996830C>T" "" "" "" "PLEC(NM_000445.3):c.7348G>A (p.(Ala2450Thr)), PLEC(NM_201380.3):c.7678G>A (p.A2560T), PLEC(NM_201380.4):c.7678G>A (p.A2560T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143922662C>T" "" "likely benign" "" "0000534052" "0" "50" "8" "144996976" "144996976" "subst" "0.000632124" "01943" "PLEC_000338" "g.144996976C>T" "" "" "" "PLEC(NM_000445.3):c.7202G>A (p.(Arg2401Gln)), PLEC(NM_201380.3):c.7532G>A (p.R2511Q), PLEC(NM_201380.4):c.7532G>A (p.R2511Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143922808C>T" "" "VUS" "" "0000534053" "0" "50" "8" "144996976" "144996976" "subst" "0.000632124" "02325" "PLEC_000338" "g.144996976C>T" "" "" "" "PLEC(NM_000445.3):c.7202G>A (p.(Arg2401Gln)), PLEC(NM_201380.3):c.7532G>A (p.R2511Q), PLEC(NM_201380.4):c.7532G>A (p.R2511Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143922808C>T" "" "VUS" "" "0000534054" "0" "50" "8" "144996997" "144996997" "subst" "4.77089E-5" "01804" "PLEC_000459" "g.144996997G>A" "" "" "" "PLEC(NM_000445.3):c.7181C>T (p.(Thr2394Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143922829G>A" "" "VUS" "" "0000534056" "0" "30" "8" "144997311" "144997311" "subst" "0.000167839" "01804" "PLEC_000102" "g.144997311C>T" "" "" "" "PLEC(NM_000445.3):c.6867G>A (p.(Thr2289=)), PLEC(NM_201380.3):c.7197G>A (p.T2399=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143923143C>T" "" "likely benign" "" "0000534057" "0" "30" "8" "144997436" "144997436" "subst" "0" "01804" "PLEC_000461" "g.144997436G>A" "" "" "" "PLEC(NM_000445.3):c.6742C>T (p.(Arg2248Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143923268G>A" "" "likely benign" "" "0000534058" "0" "50" "8" "144997552" "144997552" "subst" "2.13743E-5" "02326" "PLEC_000462" "g.144997552G>A" "" "" "" "PLEC(NM_000445.5):c.6626C>T (p.A2209V), PLEC(NM_201380.4):c.6956C>T (p.A2319V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143923384G>A" "" "VUS" "" "0000534059" "0" "90" "8" "144997571" "144997571" "subst" "0" "02325" "PLEC_000463" "g.144997571G>A" "" "" "" "PLEC(NM_201380.4):c.6937C>T (p.Q2313*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143923403G>A" "" "pathogenic" "" "0000534060" "0" "30" "8" "144997577" "144997577" "subst" "1.69648E-5" "01943" "PLEC_000341" "g.144997577C>T" "" "" "" "PLEC(NM_201380.3):c.6931G>A (p.A2311T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143923409C>T" "" "likely benign" "" "0000534061" "0" "30" "8" "144997578" "144997578" "subst" "8.48587E-6" "01804" "PLEC_000464" "g.144997578G>C" "" "" "" "PLEC(NM_000445.3):c.6600C>G (p.(Phe2200Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143923410G>C" "" "likely benign" "" "0000534063" "0" "30" "8" "144997611" "144997611" "subst" "0" "01804" "PLEC_000466" "g.144997611T>G" "" "" "" "PLEC(NM_000445.3):c.6567A>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143923443T>G" "" "likely benign" "" "0000534064" "0" "30" "8" "144997671" "144997671" "subst" "0.000627453" "01943" "PLEC_000112" "g.144997671G>A" "" "" "" "PLEC(NM_201380.3):c.6837C>T (p.A2279=), PLEC(NM_201380.4):c.6837C>T (p.A2279=), PLEC(NM_201384.3):c.6426C>T (p.(Ala2142=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143923503G>A" "" "likely benign" "" "0000534067" "0" "50" "8" "144997819" "144997819" "subst" "0.000130082" "01943" "PLEC_000345" "g.144997819G>A" "" "" "" "PLEC(NM_000445.3):c.6359C>T (p.(Ala2120Val)), PLEC(NM_201380.3):c.6689C>T (p.A2230V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143923651G>A" "" "VUS" "" "0000534068" "0" "50" "8" "144997819" "144997819" "subst" "0.000130082" "01804" "PLEC_000345" "g.144997819G>A" "" "" "" "PLEC(NM_000445.3):c.6359C>T (p.(Ala2120Val)), PLEC(NM_201380.3):c.6689C>T (p.A2230V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143923651G>A" "" "VUS" "" "0000534069" "0" "30" "8" "144997835" "144997835" "subst" "0.000387519" "01804" "PLEC_000468" "g.144997835G>A" "" "" "" "PLEC(NM_000445.3):c.6343C>T (p.(Arg2115Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143923667G>A" "" "likely benign" "" "0000534070" "0" "30" "8" "144997838" "144997838" "subst" "0" "01804" "PLEC_000469" "g.144997838G>A" "" "" "" "PLEC(NM_000445.3):c.6340C>T (p.(Arg2114Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143923670G>A" "" "likely benign" "" "0000534072" "0" "50" "8" "144998035" "144998035" "subst" "0.000320779" "01943" "PLEC_000471" "g.144998035G>A" "" "" "" "PLEC(NM_000445.5):c.6143C>T (p.A2048V), PLEC(NM_201380.3):c.6473C>T (p.A2158V), PLEC(NM_201384.3):c.6062C>T (p.(Ala2021Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143923867G>A" "" "VUS" "" "0000534074" "0" "50" "8" "144998170" "144998170" "subst" "4.87676E-5" "01804" "PLEC_000473" "g.144998170G>A" "" "" "" "PLEC(NM_000445.3):c.6008C>T (p.(Ala2003Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143924002G>A" "" "VUS" "" "0000534075" "0" "10" "8" "144998190" "144998190" "subst" "0.336612" "02330" "PLEC_000023" "g.144998190A>G" "" "" "" "PLEC(NM_201380.4):c.6318T>C (p.A2106=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143924022A>G" "" "benign" "" "0000534077" "0" "30" "8" "144998232" "144998232" "subst" "0.0137886" "01804" "PLEC_000475" "g.144998232C>T" "" "" "" "PLEC(NM_000445.3):c.5946G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143924064C>T" "" "likely benign" "" "0000534079" "0" "30" "8" "144998424" "144998424" "subst" "0.000767008" "01804" "PLEC_000476" "g.144998424G>A" "" "" "" "PLEC(NM_000445.3):c.5754C>T (p.(Ile1918=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143924256G>A" "" "likely benign" "" "0000534080" "0" "10" "8" "144998621" "144998621" "subst" "0.00652865" "01804" "PLEC_000137" "g.144998621G>A" "" "" "" "PLEC(NM_000445.3):c.5557C>T (p.(Arg1853Trp)), PLEC(NM_201380.4):c.5887C>T (p.R1963W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143924453G>A" "" "benign" "" "0000534081" "0" "50" "8" "144998653" "144998653" "subst" "5.30237E-5" "01943" "PLEC_000477" "g.144998653C>T" "" "" "" "PLEC(NM_201380.3):c.5855G>A (p.R1952Q), PLEC(NM_201384.3):c.5444G>A (p.(Arg1815Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143924485C>T" "" "VUS" "" "0000534082" "0" "30" "8" "144998683" "144998683" "subst" "0.000100586" "01804" "PLEC_000478" "g.144998683C>T" "" "" "" "PLEC(NM_000445.3):c.5495G>A (p.(Arg1832His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143924515C>T" "" "likely benign" "" "0000534083" "0" "50" "8" "144998706" "144998706" "subst" "0.0015747" "01804" "PLEC_000479" "g.144998706G>A" "" "" "" "PLEC(NM_000445.3):c.5472C>T (p.(Arg1824=)), PLEC(NM_201380.4):c.5802C>T (p.R1934=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143924538G>A" "" "VUS" "" "0000534085" "0" "30" "8" "144998867" "144998867" "subst" "0" "01804" "PLEC_000481" "g.144998867C>T" "" "" "" "PLEC(NM_000445.3):c.5311G>A (p.(Ala1771Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143924699C>T" "" "likely benign" "" "0000534086" "0" "50" "8" "144999074" "144999074" "subst" "0" "02327" "PLEC_000483" "g.144999074G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143924906G>A" "" "VUS" "" "0000534087" "0" "50" "8" "144999086" "144999086" "subst" "0.000102738" "01943" "PLEC_000484" "g.144999086G>A" "" "" "" "PLEC(NM_201380.3):c.5422C>T (p.R1808C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143924918G>A" "" "VUS" "" "0000534089" "0" "50" "8" "144999242" "144999242" "subst" "9.26383E-5" "02329" "PLEC_000355" "g.144999242C>T" "" "" "" "PLEC(NM_201380.4):c.5266G>A (p.E1756K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143925074C>T" "" "VUS" "" "0000534090" "0" "30" "8" "144999264" "144999264" "subst" "0.000212568" "01804" "PLEC_000486" "g.144999264C>T" "" "" "" "PLEC(NM_201380.4):c.5244G>A (p.E1748=), PLEC(NM_201384.3):c.4833G>A (p.(Glu1611=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143925096C>T" "" "likely benign" "" "0000534091" "0" "50" "8" "144999302" "144999302" "subst" "0" "01804" "PLEC_000487" "g.144999302C>G" "" "" "" "PLEC(NM_000445.3):c.4876G>C (p.(Glu1626Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143925134C>G" "" "VUS" "" "0000534092" "0" "30" "8" "144999453" "144999453" "subst" "0.0166654" "01804" "PLEC_000488" "g.144999453C>T" "" "" "" "PLEC(NM_000445.3):c.4725G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143925285C>T" "" "likely benign" "" "0000534093" "0" "10" "8" "144999462" "144999462" "subst" "0.00177517" "01943" "PLEC_000489" "g.144999462C>T" "" "" "" "PLEC(NM_000445.3):c.4716G>A (p.(=)), PLEC(NM_201380.3):c.5046G>A (p.A1682=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143925294C>T" "" "benign" "" "0000534094" "0" "30" "8" "144999541" "144999541" "subst" "0.000844734" "01804" "PLEC_000490" "g.144999541G>A" "" "" "" "PLEC(NM_000445.3):c.4637C>T (p.(Ser1546Leu)), PLEC(NM_201380.3):c.4967C>T (p.S1656L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143925373G>A" "" "likely benign" "" "0000534096" "0" "30" "8" "144999785" "144999785" "subst" "9.91008E-5" "01804" "PLEC_000492" "g.144999785G>A" "" "" "" "PLEC(NM_000445.3):c.4393C>T (p.(Arg1465Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143925617G>A" "" "likely benign" "" "0000534097" "0" "50" "8" "144999874" "144999874" "subst" "0.00142672" "01943" "PLEC_000493" "g.144999874G>A" "" "" "" "PLEC(NM_201380.3):c.4634C>T (p.A1545V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143925706G>A" "" "VUS" "" "0000534099" "0" "30" "8" "145000021" "145000021" "subst" "0.000791687" "01804" "PLEC_000162" "g.145000021C>T" "" "" "" "PLEC(NM_000445.3):c.4157G>A (p.(Arg1386His)), PLEC(NM_201380.4):c.4487G>A (p.R1496H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143925853C>T" "" "likely benign" "" "0000534103" "0" "50" "8" "145001227" "145001227" "subst" "0.000106663" "01943" "PLEC_000497" "g.145001227G>A" "" "" "" "PLEC(NM_000445.5):c.3944C>T (p.T1315M), PLEC(NM_201380.3):c.4274C>T (p.T1425M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143927059G>A" "" "VUS" "" "0000534105" "0" "30" "8" "145001512" "145001512" "subst" "0.0355063" "01804" "PLEC_000171" "g.145001512T>C" "" "" "" "PLEC(NM_000445.3):c.3838-9A>G (p.(=)), PLEC(NM_201380.4):c.4168-9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143927344T>C" "" "likely benign" "" "0000534107" "0" "30" "8" "145001617" "145001617" "subst" "0.0184228" "01804" "PLEC_000498" "g.145001617G>A" "" "" "" "PLEC(NM_000445.3):c.3798C>T (p.(Ala1266=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143927449G>A" "" "likely benign" "" "0000534109" "0" "30" "8" "145001791" "145001791" "subst" "0.00177359" "01804" "PLEC_000177" "g.145001791G>A" "" "" "" "PLEC(NM_000445.3):c.3624C>T (p.(Val1208=)), PLEC(NM_201380.3):c.3954C>T (p.V1318=), PLEC(NM_201380.4):c.3954C>T (p.V1318=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143927623G>A" "" "likely benign" "" "0000534110" "0" "50" "8" "145001874" "145001874" "subst" "0.00013215" "01804" "PLEC_000369" "g.145001874G>A" "" "" "" "PLEC(NM_000445.3):c.3541C>T (p.(Arg1181Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143927706G>A" "" "VUS" "" "0000534111" "0" "30" "8" "145002043" "145002043" "subst" "0.0170761" "01804" "PLEC_000500" "g.145002043C>T" "" "" "" "PLEC(NM_000445.3):c.3459G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143927875C>T" "" "likely benign" "" "0000534112" "0" "30" "8" "145002053" "145002053" "subst" "0.000197814" "01804" "PLEC_000371" "g.145002053G>A" "" "" "" "PLEC(NM_000445.3):c.3449C>T (p.(Pro1150Leu)), PLEC(NM_000445.5):c.3449C>T (p.P1150L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143927885G>A" "" "likely benign" "" "0000534113" "0" "30" "8" "145002070" "145002070" "subst" "0.00622293" "01804" "PLEC_000181" "g.145002070G>A" "" "" "" "PLEC(NM_000445.3):c.3432C>T (p.(Ala1144=)), PLEC(NM_201380.4):c.3762C>T (p.A1254=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143927902G>A" "" "likely benign" "" "0000534114" "0" "30" "8" "145002171" "145002171" "subst" "0.000318058" "01804" "PLEC_000501" "g.145002171A>G" "" "" "" "PLEC(NM_000445.3):c.3342-11T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143928003A>G" "" "likely benign" "" "0000534115" "0" "30" "8" "145002173" "145002173" "subst" "0.0217281" "01804" "PLEC_000502" "g.145002173C>T" "" "" "" "PLEC(NM_000445.3):c.3342-13G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143928005C>T" "" "likely benign" "" "0000534117" "0" "50" "8" "145003634" "145003639" "dup" "0" "02325" "PLEC_000504" "g.145003634_145003639dup" "" "" "" "PLEC(NM_201380.3):c.3439_3444dupCCGCTG (p.P1147_L1148dup), PLEC(NM_201380.4):c.3431_3436dupCCGCTG (p.P1147_L1148dup), PLEC(NM_201384.1):c.3028_3033..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143929466_143929471dup" "" "VUS" "" "0000534118" "0" "30" "8" "145003685" "145003685" "subst" "0.000969754" "01804" "PLEC_000505" "g.145003685C>T" "" "" "" "PLEC(NM_000445.3):c.3059G>A (p.(Arg1020Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143929517C>T" "" "likely benign" "" "0000534119" "0" "30" "8" "145003702" "145003702" "subst" "0.00703543" "02330" "PLEC_000506" "g.145003702G>A" "" "" "" "PLEC(NM_000445.3):c.3042C>T (p.(Ser1014=)), PLEC(NM_201380.4):c.3372C>T (p.S1124=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143929534G>A" "" "likely benign" "" "0000534120" "0" "30" "8" "145003702" "145003702" "subst" "0.00703543" "01804" "PLEC_000506" "g.145003702G>A" "" "" "" "PLEC(NM_000445.3):c.3042C>T (p.(Ser1014=)), PLEC(NM_201380.4):c.3372C>T (p.S1124=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143929534G>A" "" "likely benign" "" "0000534121" "0" "50" "8" "145003713" "145003713" "subst" "1.25438E-5" "01943" "PLEC_000507" "g.145003713G>A" "" "" "" "PLEC(NM_201380.3):c.3361C>T (p.R1121C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143929545G>A" "" "VUS" "" "0000534122" "0" "50" "8" "145003910" "145003910" "subst" "2.23502E-5" "01943" "PLEC_000508" "g.145003910C>T" "" "" "" "PLEC(NM_201380.3):c.3238G>A (p.A1080T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143929742C>T" "" "VUS" "" "0000534123" "0" "30" "8" "145004185" "145004185" "subst" "0.0159199" "01804" "PLEC_000509" "g.145004185C>T" "" "" "" "PLEC(NM_000445.3):c.2739G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143930017C>T" "" "likely benign" "" "0000534124" "0" "30" "8" "145004237" "145004237" "subst" "0.0112875" "01804" "PLEC_000510" "g.145004237G>T" "" "" "" "PLEC(NM_000445.3):c.2694-7C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143930069G>T" "" "likely benign" "" "0000534125" "0" "30" "8" "145004373" "145004373" "subst" "0.000552949" "01804" "PLEC_000511" "g.145004373C>T" "" "" "" "PLEC(NM_000445.3):c.2632G>A (p.(Val878Met)), PLEC(NM_201380.3):c.2962G>A (p.V988M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143930205C>T" "" "likely benign" "" "0000534126" "0" "30" "8" "145004426" "145004426" "subst" "0" "01804" "PLEC_000512" "g.145004426G>A" "" "" "" "PLEC(NM_000445.3):c.2579C>T (p.(Pro860Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143930258G>A" "" "likely benign" "" "0000534128" "0" "30" "8" "145004672" "145004672" "subst" "7.04993E-5" "01943" "PLEC_000513" "g.145004672G>A" "" "" "" "PLEC(NM_201380.3):c.2748C>T (p.G916=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143930504G>A" "" "likely benign" "" "0000534129" "0" "10" "8" "145005693" "145005693" "dup" "0" "02330" "PLEC_000195" "g.145005693dup" "" "" "" "PLEC(NM_201380.4):c.2715+13dupG, PLEC(NM_201380.4):c.2715+8delAinsAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143931525dup" "" "benign" "" "0000534130" "0" "30" "8" "145005789" "145005789" "subst" "0.00636747" "01804" "PLEC_000514" "g.145005789C>T" "" "" "" "PLEC(NM_000445.3):c.2298G>A (p.(Gln766=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143931621C>T" "" "likely benign" "" "0000534131" "0" "30" "8" "145006588" "145006588" "subst" "0.000129173" "01804" "PLEC_000198" "g.145006588C>T" "" "" "" "PLEC(NM_000445.3):c.2038G>A (p.(Ala680Thr)), PLEC(NM_201380.4):c.2368G>A (p.A790T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143932420C>T" "" "likely benign" "" "0000534132" "0" "50" "8" "145006672" "145006672" "subst" "0.000139998" "01804" "PLEC_000515" "g.145006672C>T" "" "" "" "PLEC(NM_000445.3):c.1954G>A (p.(Ala652Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143932504C>T" "" "VUS" "" "0000534133" "0" "30" "8" "145007005" "145007005" "subst" "8.31684E-6" "01804" "PLEC_000516" "g.145007005T>C" "" "" "" "PLEC(NM_000445.3):c.1774A>G (p.(Ile592Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143932837T>C" "" "likely benign" "" "0000534135" "0" "30" "8" "145007351" "145007351" "subst" "0" "01804" "PLEC_000518" "g.145007351A>T" "" "" "" "PLEC(NM_000445.3):c.1499+14T>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143933183A>T" "" "likely benign" "" "0000534136" "0" "30" "8" "145007355" "145007355" "subst" "0" "01804" "PLEC_000519" "g.145007355C>G" "" "" "" "PLEC(NM_000445.3):c.1499+10G>C (p.(=)), PLEC(NM_201380.3):c.1829+10G>C, PLEC(NM_201380.4):c.1829+10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143933187C>G" "" "likely benign" "" "0000534137" "0" "50" "8" "145007482" "145007482" "subst" "2.44461E-5" "02329" "PLEC_000520" "g.145007482C>T" "" "" "" "PLEC(NM_201380.4):c.1712G>A (p.R571Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143933314C>T" "" "VUS" "" "0000534140" "0" "30" "8" "145008158" "145008158" "subst" "0" "01804" "PLEC_000523" "g.145008158C>T" "" "" "" "PLEC(NM_000445.3):c.1344+8G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143933990C>T" "" "likely benign" "" "0000534142" "0" "30" "8" "145008159" "145008159" "subst" "0" "01804" "PLEC_000525" "g.145008159C>G" "" "" "" "PLEC(NM_000445.3):c.1344+7G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143933991C>G" "" "likely benign" "" "0000534144" "0" "50" "8" "145008569" "145008569" "subst" "1.22655E-5" "01804" "PLEC_000527" "g.145008569G>C" "" "" "" "PLEC(NM_000445.3):c.1167C>G (p.(His389Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143934401G>C" "" "VUS" "" "0000534146" "0" "30" "8" "145009179" "145009179" "subst" "2.04614E-5" "02325" "PLEC_000529" "g.145009179G>A" "" "" "" "PLEC(NM_201380.4):c.1236C>T (p.N412=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143935011G>A" "" "likely benign" "" "0000534147" "0" "30" "8" "145009275" "145009275" "subst" "0.000211763" "01943" "PLEC_000530" "g.145009275G>A" "" "" "" "PLEC(NM_201380.3):c.1140C>T (p.V380=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143935107G>A" "" "likely benign" "" "0000534148" "0" "50" "8" "145009450" "145009450" "subst" "0.000157133" "01943" "PLEC_000289" "g.145009450G>A" "" "" "" "PLEC(NM_201380.3):c.1045C>T (p.R349W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143935282G>A" "" "VUS" "" "0000534150" "0" "30" "8" "145011320" "145011320" "subst" "0.00819498" "01804" "PLEC_000219" "g.145011320C>T" "" "" "" "PLEC(NM_000445.3):c.423+13G>A (p.(=)), PLEC(NM_201380.4):c.753+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143937152C>T" "" "likely benign" "" "0000534151" "0" "50" "8" "145011343" "145011343" "subst" "2.03761E-5" "01943" "PLEC_000531" "g.145011343C>T" "" "" "" "PLEC(NM_201380.3):c.743G>A (p.R248Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143937175C>T" "" "VUS" "" "0000534152" "0" "30" "8" "145011426" "145011426" "subst" "0.0136701" "01804" "PLEC_000220" "g.145011426G>C" "" "" "" "PLEC(NM_000445.3):c.346-16C>G (p.(=)), PLEC(NM_201380.4):c.676-16C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143937258G>C" "" "likely benign" "" "0000534154" "0" "30" "8" "145012789" "145012789" "subst" "0.000308823" "01804" "PLEC_000533" "g.145012789C>T" "" "" "" "PLEC(NM_000445.3):c.255+10G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143938621C>T" "" "likely benign" "" "0000534155" "0" "30" "8" "145012789" "145012789" "del" "0.00112544" "01804" "PLEC_000534" "g.145012789del" "" "" "" "PLEC(NM_000445.3):c.255+10delG (p.(=)), PLEC(NM_201380.3):c.585+10delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143938621del" "" "likely benign" "" "0000534156" "0" "50" "8" "145013568" "145013568" "subst" "0.000493523" "01943" "PLEC_000535" "g.145013568G>A" "" "" "" "PLEC(NM_201384.2):c.62C>T (p.S21L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143939400G>A" "" "VUS" "" "0000534157" "0" "30" "8" "145013583" "145013583" "subst" "9.04695E-5" "01804" "PLEC_000536" "g.145013583C>T" "" "" "" "PLEC(NM_000445.3):c.194-723G>A (p.(=)), PLEC(NM_201384.2):c.47G>A (p.R16Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143939415C>T" "" "likely benign" "" "0000534158" "0" "30" "8" "145016511" "145016572" "del" "0" "01804" "PLEC_000537" "g.145016511_145016572del" "" "" "" "PLEC(NM_000445.3):c.194-3711_194-3650del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143942343_143942404del" "" "likely benign" "" "0000534161" "0" "30" "8" "145024459" "145024459" "subst" "0.000151639" "01804" "PLEC_000538" "g.145024459A>G" "" "" "" "PLEC(NM_201380.2):c.416T>C (p.(Val139Ala)), PLEC(NM_201380.4):c.416T>C (p.V139A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143950291A>G" "" "likely benign" "" "0000534162" "0" "50" "8" "145024570" "145024570" "subst" "0.000537462" "01943" "PLEC_000539" "g.145024570C>A" "" "" "" "PLEC(NM_201380.2):c.305G>T (p.(Arg102Leu)), PLEC(NM_201380.3):c.305G>T (p.R102L), PLEC(NM_201380.4):c.305G>T (p.R102L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143950402C>A" "" "VUS" "" "0000534163" "0" "50" "8" "145024570" "145024570" "subst" "0.000537462" "01804" "PLEC_000539" "g.145024570C>A" "" "" "" "PLEC(NM_201380.2):c.305G>T (p.(Arg102Leu)), PLEC(NM_201380.3):c.305G>T (p.R102L), PLEC(NM_201380.4):c.305G>T (p.R102L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143950402C>A" "" "VUS" "" "0000534164" "0" "30" "8" "145024578" "145024578" "subst" "0.00768298" "01804" "PLEC_000226" "g.145024578G>A" "" "" "" "PLEC(NM_201380.2):c.297C>T (p.(Arg99=)), PLEC(NM_201380.4):c.297C>T (p.R99=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143950410G>A" "" "likely benign" "" "0000534165" "0" "30" "8" "145049423" "145049423" "subst" "9.54967E-5" "01804" "PARP10_000001" "g.145049423T>C" "" "" "" "PLEC(NM_000445.3):c.115A>G (p.(Ser39Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143975255T>C" "" "likely benign" "" "0000597301" "1" "50" "8" "144993557" "144993557" "subst" "2.03664E-5" "00006" "PLEC_000541" "g.144993557C>T" "" "{PMID:Özyilmaz 2019:31066050}" "" "NM_201380.3:c.10843G>A" "ACMG PM2, PP3; in silico prediction pathogenic" "Germline" "" "rs375766567" "0" "" "" "g.143919389C>T" "" "VUS" "ACMG" "0000597302" "2" "50" "8" "144990481" "144990481" "subst" "1.66596E-5" "00006" "PLEC_000540" "g.144990481C>T" "" "{PMID:Özyilmaz 2019:31066050}" "" "NM_201380.3:c.13919G>A" "ACMG PM2, PP3; in silico prediction pathogenic" "Germline" "" "" "0" "" "" "g.143916313C>T" "" "VUS" "ACMG" "0000611497" "0" "30" "8" "144992395" "144992395" "subst" "0.000298137" "01804" "PLEC_000542" "g.144992395C>T" "" "" "" "PLEC(NM_000445.3):c.11675G>A (p.(Arg3892His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143918227C>T" "" "likely benign" "" "0000611498" "0" "10" "8" "144992781" "144992781" "subst" "0.00365097" "02326" "PLEC_000413" "g.144992781C>T" "" "" "" "PLEC(NM_000445.3):c.11289G>A (p.(Pro3763=)), PLEC(NM_201380.3):c.11619G>A (p.P3873=), PLEC(NM_201380.4):c.11619G>A (p.P3873=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143918613C>T" "" "benign" "" "0000611499" "0" "30" "8" "144994409" "144994409" "subst" "4.0783E-5" "01943" "PLEC_000545" "g.144994409C>T" "" "" "" "PLEC(NM_201380.3):c.9991G>A (p.E3331K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143920241C>T" "" "likely benign" "" "0000611500" "0" "50" "8" "144994909" "144994909" "subst" "8.10504E-5" "01943" "PLEC_000546" "g.144994909G>A" "" "" "" "PLEC(NM_201380.3):c.9491C>T (p.A3164V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143920741G>A" "" "VUS" "" "0000611501" "0" "30" "8" "144995012" "144995012" "subst" "0.000135997" "02326" "PLEC_000547" "g.144995012C>T" "" "" "" "PLEC(NM_201380.4):c.9388G>A (p.D3130N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143920844C>T" "" "likely benign" "" "0000611503" "0" "50" "8" "144997854" "144997854" "subst" "0.000132439" "02326" "PLEC_000119" "g.144997854G>A" "" "" "" "PLEC(NM_201380.4):c.6654C>T (p.G2218=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143923686G>A" "" "VUS" "" "0000611504" "0" "50" "8" "144998975" "144998975" "subst" "0" "02326" "PLEC_000549" "g.144998975G>A" "" "" "" "PLEC(NM_201380.4):c.5533C>T (p.R1845C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143924807G>A" "" "VUS" "" "0000611505" "0" "30" "8" "144999277" "144999277" "subst" "6.58996E-5" "02325" "PLEC_000550" "g.144999277C>T" "" "" "" "PLEC(NM_201380.4):c.5231G>A (p.R1744Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143925109C>T" "" "likely benign" "" "0000611506" "0" "50" "8" "144999539" "144999539" "subst" "1.21418E-5" "01943" "PLEC_000551" "g.144999539G>A" "" "" "" "PLEC(NM_201380.3):c.4969C>T (p.R1657C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143925371G>A" "" "VUS" "" "0000611507" "0" "30" "8" "144999731" "144999731" "subst" "0.00366295" "02326" "PLEC_000157" "g.144999731C>T" "" "" "" "PLEC(NM_000445.3):c.4447G>A (p.(Val1483Met)), PLEC(NM_201380.3):c.4777G>A (p.V1593M), PLEC(NM_201380.4):c.4777G>A (p.V1593M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143925563C>T" "" "likely benign" "" "0000611508" "0" "30" "8" "145001217" "145001217" "subst" "0.000200718" "02326" "PLEC_000552" "g.145001217C>T" "" "" "" "PLEC(NM_201380.4):c.4284G>A (p.A1428=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143927049C>T" "" "likely benign" "" "0000611509" "0" "30" "8" "145003618" "145003618" "subst" "8.03745E-5" "02326" "PLEC_000553" "g.145003618C>T" "" "" "" "PLEC(NM_201380.4):c.3456G>A (p.P1152=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143929450C>T" "" "likely benign" "" "0000611510" "0" "50" "8" "145003918" "145003918" "subst" "0" "01943" "PLEC_000554" "g.145003918C>T" "" "" "" "PLEC(NM_201380.3):c.3230G>A (p.S1077N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143929750C>T" "" "VUS" "" "0000611511" "0" "30" "8" "145007069" "145007069" "subst" "0.00110023" "01804" "PLEC_000557" "g.145007069C>A" "" "" "" "PLEC(NM_000445.3):c.1710G>T (p.(Glu570Asp)), PLEC(NM_201380.4):c.2040G>T (p.E680D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143932901C>A" "" "likely benign" "" "0000611512" "0" "50" "8" "145007239" "145007239" "subst" "0" "02326" "PLEC_000558" "g.145007239C>T" "" "" "" "PLEC(NM_201380.4):c.1870G>A (p.E624K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143933071C>T" "" "VUS" "" "0000611513" "0" "30" "8" "145012789" "145012789" "del" "0.00112544" "01943" "PLEC_000534" "g.145012789del" "" "" "" "PLEC(NM_000445.3):c.255+10delG (p.(=)), PLEC(NM_201380.3):c.585+10delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143938621del" "" "likely benign" "" "0000611514" "0" "30" "8" "145024437" "145024437" "subst" "1.72224E-5" "01943" "PLEC_000561" "g.145024437C>T" "" "" "" "PLEC(NM_201380.3):c.438G>A (p.E146=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143950269C>T" "" "likely benign" "" "0000622010" "0" "30" "8" "144993490" "144993490" "subst" "0.000109698" "01943" "PLEC_000543" "g.144993490C>T" "" "" "" "PLEC(NM_201380.3):c.10910G>A (p.R3637H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143919322C>T" "" "likely benign" "" "0000622013" "0" "50" "8" "144999073" "144999073" "subst" "0.000619074" "02325" "PLEC_000146" "g.144999073C>T" "" "" "" "PLEC(NM_000445.3):c.5105G>A (p.(Arg1702Gln)), PLEC(NM_201380.4):c.5435G>A (p.R1812Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143924905C>T" "" "VUS" "" "0000622014" "0" "30" "8" "145004473" "145004473" "subst" "0.000418106" "01943" "PLEC_000555" "g.145004473C>T" "" "" "" "PLEC(NM_201380.3):c.2869-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143930305C>T" "" "likely benign" "" "0000622015" "0" "30" "8" "145004684" "145004684" "subst" "3.31505E-5" "01943" "PLEC_000556" "g.145004684G>A" "" "" "" "PLEC(NM_201380.3):c.2736C>T (p.N912=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143930516G>A" "" "likely benign" "" "0000622016" "0" "30" "8" "145009206" "145009206" "subst" "4.89508E-5" "01943" "PLEC_000559" "g.145009206C>T" "" "" "" "PLEC(NM_201380.3):c.1209G>A (p.P403=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143935038C>T" "" "likely benign" "" "0000622018" "0" "30" "8" "145024784" "145024784" "subst" "0.000279051" "01943" "PLEC_000562" "g.145024784G>A" "" "" "" "PLEC(NM_201380.3):c.91C>T (p.R31W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143950616G>A" "" "likely benign" "" "0000652442" "1" "10" "8" "144990784" "144990784" "subst" "0.0148541" "03575" "PLEC_000246" "g.144990784G>A" "45/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "45 heterozygous; {DB:CLININrs113513807}" "Germline" "" "rs113513807" "0" "" "" "g.143916616G>A" "" "benign" "" "0000652443" "1" "10" "8" "144993003" "144993003" "subst" "0.00986428" "03575" "PLEC_000416" "g.144993003G>A" "13/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "13 heterozygous, no homozygous; {DB:CLININrs35134741}" "Germline" "" "rs35134741" "0" "" "" "g.143918835G>A" "" "benign" "" "0000652444" "1" "10" "8" "144995939" "144995939" "subst" "0.0226002" "03575" "PLEC_000093" "g.144995939G>A" "49/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "49 heterozygous; {DB:CLININrs35723243}" "Germline" "" "rs35723243" "0" "" "" "g.143921771G>A" "" "benign" "" "0000652445" "1" "50" "8" "144998224" "144998224" "subst" "0.000342278" "03575" "PLEC_000474" "g.144998224G>A" "14/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "14 heterozygous, no homozygous; {DB:CLININrs200715520}" "Germline" "" "rs200715520" "0" "" "" "g.143924056G>A" "" "VUS" "" "0000652446" "1" "50" "8" "144998576" "144998576" "subst" "0.000326723" "03575" "PLEC_000350" "g.144998576C>T" "2/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs201657125}" "Germline" "" "rs201657125" "0" "" "" "g.143924408C>T" "" "VUS" "" "0000652447" "1" "10" "8" "145006992" "145006992" "subst" "0.0142016" "03575" "PLEC_000202" "g.145006992C>T" "23/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "23 heterozygous, no homozygous; {DB:CLININrs3135103}" "Germline" "" "rs3135103" "0" "" "" "g.143932824C>T" "" "benign" "" "0000652448" "1" "10" "8" "145009356" "145009356" "subst" "0.0526374" "03575" "PLEC_000216" "g.145009356G>A" "148/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "148 heterozygous; {DB:CLININrs12545876}" "Germline" "" "rs12545876" "0" "" "" "g.143935188G>A" "" "benign" "" "0000656011" "0" "30" "8" "144990455" "144990455" "subst" "1.82012E-5" "01804" "PLEC_000563" "g.144990455C>T" "" "" "" "PLEC(NM_000445.3):c.13615G>A (p.(Gly4539Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143916287C>T" "" "likely benign" "" "0000656012" "0" "30" "8" "144990747" "144990747" "subst" "6.34164E-5" "01943" "PLEC_000564" "g.144990747G>A" "" "" "" "PLEC(NM_000445.3):c.13323C>T (p.(Arg4441=)), PLEC(NM_201380.3):c.13653C>T (p.R4551=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143916579G>A" "" "likely benign" "" "0000656013" "0" "30" "8" "144992254" "144992254" "subst" "0.000174858" "01943" "PLEC_000565" "g.144992254C>T" "" "" "" "PLEC(NM_201380.3):c.12146G>A (p.R4049Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143918086C>T" "" "likely benign" "" "0000656015" "0" "50" "8" "144993572" "144993572" "subst" "0.000126474" "01943" "PLEC_000567" "g.144993572C>T" "" "" "" "PLEC(NM_201380.3):c.10828G>A (p.G3610S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143919404C>T" "" "VUS" "" "0000656016" "0" "30" "8" "144995949" "144995949" "subst" "0.000922028" "01943" "PLEC_000568" "g.144995949G>A" "" "" "" "PLEC(NM_201380.3):c.8451C>T (p.D2817=), PLEC(NM_201380.4):c.8451C>T (p.D2817=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143921781G>A" "" "likely benign" "" "0000656017" "0" "30" "8" "144997929" "144997929" "subst" "7.56821E-5" "01943" "PLEC_000569" "g.144997929G>A" "" "" "" "PLEC(NM_201380.3):c.6579C>T (p.F2193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143923761G>A" "" "likely benign" "" "0000656019" "0" "50" "8" "144998869" "144998869" "subst" "0" "01943" "PLEC_000570" "g.144998869G>A" "" "" "" "PLEC(NM_201380.3):c.5639C>T (p.A1880V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143924701G>A" "" "VUS" "" "0000656020" "0" "30" "8" "145000982" "145000982" "subst" "0.000154421" "01943" "PLEC_000571" "g.145000982G>A" "" "" "" "PLEC(NM_201380.3):c.4425C>T (p.S1475=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143926814G>A" "" "likely benign" "" "0000656021" "0" "30" "8" "145001510" "145001510" "subst" "0.000145748" "01943" "PLEC_000572" "g.145001510G>A" "" "" "" "PLEC(NM_201380.3):c.4168-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143927342G>A" "" "likely benign" "" "0000656022" "0" "30" "8" "145003345" "145003345" "subst" "5.66305E-5" "02326" "PLEC_000573" "g.145003345C>T" "" "" "" "PLEC(NM_201380.4):c.3597G>A (p.T1199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143929177C>T" "" "likely benign" "" "0000656023" "0" "30" "8" "145006096" "145006096" "subst" "0.000254163" "01943" "PLEC_000574" "g.145006096G>A" "" "" "" "PLEC(NM_201380.3):c.2589+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143931928G>A" "" "likely benign" "" "0000656024" "0" "30" "8" "145006812" "145006812" "subst" "4.24654E-6" "01943" "PLEC_000575" "g.145006812G>A" "" "" "" "PLEC(NM_201380.3):c.2217C>T (p.A739=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143932644G>A" "" "likely benign" "" "0000656025" "0" "50" "8" "145007512" "145007512" "subst" "6.959E-5" "01943" "PLEC_000576" "g.145007512C>T" "" "" "" "PLEC(NM_201380.3):c.1682G>A (p.R561Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143933344C>T" "" "VUS" "" "0000656026" "0" "30" "8" "145008617" "145008617" "subst" "0.000330559" "01943" "PLEC_000528" "g.145008617T>C" "" "" "" "PLEC(NM_201380.3):c.1453-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143934449T>C" "" "likely benign" "" "0000656028" "0" "30" "8" "145024783" "145024783" "subst" "0.000878106" "01943" "PLEC_000578" "g.145024783C>T" "" "" "" "PLEC(NM_201380.3):c.92G>A (p.R31Q), PLEC(NM_201380.4):c.92G>A (p.R31Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143950615C>T" "" "likely benign" "" "0000660111" "0" "50" "8" "144992837" "144992837" "subst" "1.24362E-5" "01164" "PLEC_000579" "g.144992837C>T" "" "" "" "" "no second variant deetected in PLEC" "Germline" "" "rs201007788" "0" "" "" "g.143918669C>T" "" "VUS" "" "0000663710" "0" "50" "8" "144993260" "144993260" "subst" "4.52299E-5" "01164" "PLEC_000580" "g.144993260C>T" "" "" "" "" "no second variant in PLEC detected" "Germline" "" "rs782299720" "0" "" "" "g.143919092C>T" "" "VUS" "" "0000669998" "3" "10" "8" "144990784" "144990784" "subst" "0.0148541" "03575" "PLEC_000246" "g.144990784G>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs113513807}" "Germline" "" "rs113513807" "0" "" "" "g.143916616G>A" "" "benign" "" "0000669999" "3" "10" "8" "144995939" "144995939" "subst" "0.0226002" "03575" "PLEC_000093" "g.144995939G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs35723243}" "Germline" "" "rs35723243" "0" "" "" "g.143921771G>A" "" "benign" "" "0000670000" "3" "10" "8" "145009356" "145009356" "subst" "0.0526374" "03575" "PLEC_000216" "g.145009356G>A" "6/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 homozygous; {DB:CLININrs12545876}" "Germline" "" "rs12545876" "0" "" "" "g.143935188G>A" "" "benign" "" "0000670366" "21" "50" "8" "144998912" "144998912" "subst" "1.59854E-5" "00006" "PLEC_000581" "g.144998912G>A" "" "{PMID:Vissers 2020:32553196}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000670367" "11" "50" "8" "144992714" "144992714" "subst" "9.78524E-5" "00006" "PLEC_000582" "g.144992714C>T" "" "{PMID:Vissers 2020:32553196}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000670739" "1" "50" "8" "144994204" "144994204" "subst" "4.06785E-6" "00006" "PLEC_000583" "g.144994204A>T" "" "{PMID:Yu 2017:28403181}" "" "NM_201382.1:c.9785T>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000670818" "1" "50" "8" "145003652" "145003652" "subst" "0" "00006" "PLEC_000585" "g.145003652A>C" "" "{PMID:Yu 2017:28403181}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000670848" "2" "50" "8" "144997126" "144997126" "subst" "0.000303413" "00006" "PLEC_000584" "g.144997126C>T" "" "{PMID:Yu 2017:28403181}" "" "NM_201382.1:c.6971G>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000678303" "0" "50" "8" "144991648" "144991648" "subst" "7.31356E-5" "01943" "PLEC_000586" "g.144991648G>A" "" "" "" "PLEC(NM_201380.3):c.12752C>T (p.T4251M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678304" "0" "30" "8" "144992442" "144992442" "subst" "4.99814E-5" "01943" "PLEC_000587" "g.144992442C>T" "" "" "" "PLEC(NM_000445.3):c.11628G>A (p.(Pro3876=)), PLEC(NM_201380.3):c.11958G>A (p.P3986=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678305" "0" "50" "8" "144993813" "144993813" "subst" "0" "01943" "PLEC_000588" "g.144993813C>G" "" "" "" "PLEC(NM_201380.3):c.10587G>C (p.Q3529H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678306" "0" "30" "8" "144994826" "144994826" "subst" "0" "01943" "PLEC_000589" "g.144994826C>T" "" "" "" "PLEC(NM_201380.3):c.9574G>A (p.V3192M), PLEC(NM_201384.1):c.9163G>A (p.(Val3055Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678307" "0" "50" "8" "144995227" "144995227" "subst" "0.000118354" "01943" "PLEC_000074" "g.144995227G>A" "" "" "" "PLEC(NM_000445.3):c.8843C>T (p.(Thr2948Met)), PLEC(NM_201380.3):c.9173C>T (p.T3058M), PLEC(NM_201380.4):c.9173C>T (p.T3058M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678308" "0" "30" "8" "144996462" "144996462" "subst" "0.000133985" "01943" "PLEC_000590" "g.144996462G>A" "" "" "" "PLEC(NM_201380.3):c.7938C>T (p.I2646=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678309" "0" "90" "8" "144997223" "144997223" "subst" "2.09237E-5" "02325" "PLEC_000237" "g.144997223G>A" "" "" "" "PLEC(NM_201380.4):c.7285C>T (p.R2429*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000678310" "0" "30" "8" "144997786" "144997786" "subst" "0.00243471" "02326" "PLEC_000344" "g.144997786G>A" "" "" "" "PLEC(NM_000445.3):c.6392C>T (p.(Ala2131Val)), PLEC(NM_201380.4):c.6722C>T (p.A2241V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678311" "0" "50" "8" "144998129" "144998129" "subst" "0.000143442" "01943" "PLEC_000124" "g.144998129C>T" "" "" "" "PLEC(NM_201380.3):c.6379G>A (p.V2127M), PLEC(NM_201380.4):c.6379G>A (p.V2127M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678312" "0" "50" "8" "144998876" "144998876" "subst" "1.61655E-5" "01943" "PLEC_000591" "g.144998876G>A" "" "" "" "PLEC(NM_201380.3):c.5632C>T (p.R1878C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678313" "0" "50" "8" "144999446" "144999446" "subst" "0.00243784" "02325" "PLEC_000149" "g.144999446G>A" "" "" "" "PLEC(NM_000445.3):c.4732C>T (p.(Arg1578Cys)), PLEC(NM_201380.3):c.5062C>T (p.R1688C), PLEC(NM_201380.4):c.5062C>T (p.R1688C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678314" "0" "30" "8" "144999541" "144999541" "subst" "0.000844734" "01943" "PLEC_000490" "g.144999541G>A" "" "" "" "PLEC(NM_000445.3):c.4637C>T (p.(Ser1546Leu)), PLEC(NM_201380.3):c.4967C>T (p.S1656L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678315" "0" "30" "8" "145001746" "145001746" "subst" "0.000662951" "01943" "PLEC_000368" "g.145001746G>A" "" "" "" "PLEC(NM_201380.3):c.3999C>T (p.D1333=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678316" "0" "30" "8" "145001853" "145001853" "subst" "0" "01943" "PLEC_000592" "g.145001853C>T" "" "" "" "PLEC(NM_201380.3):c.3892G>A (p.E1298K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678317" "0" "30" "8" "145002067" "145002067" "subst" "8.2151E-5" "01943" "PLEC_000593" "g.145002067C>T" "" "" "" "PLEC(NM_201380.3):c.3765G>A (p.V1255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678318" "0" "50" "8" "145002128" "145002128" "subst" "0.000145371" "01943" "PLEC_000594" "g.145002128G>A" "" "" "" "PLEC(NM_201380.3):c.3704C>T (p.T1235M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678319" "0" "50" "8" "145003634" "145003639" "dup" "0" "01943" "PLEC_000504" "g.145003634_145003639dup" "" "" "" "PLEC(NM_201380.3):c.3439_3444dupCCGCTG (p.P1147_L1148dup), PLEC(NM_201380.4):c.3431_3436dupCCGCTG (p.P1147_L1148dup), PLEC(NM_201384.1):c.3028_3033..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678320" "0" "50" "8" "145004105" "145004105" "subst" "2.09948E-5" "01943" "PLEC_000595" "g.145004105G>A" "" "" "" "PLEC(NM_201380.3):c.3149C>T (p.T1050M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678321" "0" "30" "8" "145005769" "145005769" "subst" "0.000901451" "01943" "PLEC_000196" "g.145005769C>T" "" "" "" "PLEC(NM_000445.3):c.2318G>A (p.(Arg773His)), PLEC(NM_201380.3):c.2648G>A (p.R883H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678322" "0" "30" "8" "145006301" "145006301" "subst" "4.28185E-5" "01943" "PLEC_000596" "g.145006301C>T" "" "" "" "PLEC(NM_201380.3):c.2490G>A (p.V830=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678323" "0" "30" "8" "145007355" "145007355" "subst" "0" "01943" "PLEC_000519" "g.145007355C>G" "" "" "" "PLEC(NM_000445.3):c.1499+10G>C (p.(=)), PLEC(NM_201380.3):c.1829+10G>C, PLEC(NM_201380.4):c.1829+10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678324" "0" "50" "8" "145009386" "145009386" "subst" "4.07987E-6" "01943" "PLEC_000597" "g.145009386G>A" "" "" "" "PLEC(NM_201380.3):c.1109C>T (p.T370M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678325" "0" "30" "8" "145013583" "145013583" "subst" "9.04695E-5" "01943" "PLEC_000536" "g.145013583C>T" "" "" "" "PLEC(NM_000445.3):c.194-723G>A (p.(=)), PLEC(NM_201384.2):c.47G>A (p.R16Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690184" "0" "30" "8" "144991746" "144991746" "subst" "0.000763743" "01943" "PLEC_000405" "g.144991746G>A" "" "" "" "PLEC(NM_000445.3):c.12324C>T (p.(Thr4108=)), PLEC(NM_201380.3):c.12654C>T (p.T4218=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690185" "0" "30" "8" "144991848" "144991848" "subst" "9.35241E-5" "01943" "PLEC_000598" "g.144991848G>A" "" "" "" "PLEC(NM_201380.3):c.12552C>T (p.I4184=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690186" "0" "50" "8" "144992378" "144992378" "subst" "0.0014159" "01943" "PLEC_000066" "g.144992378C>T" "" "" "" "PLEC(NM_000445.3):c.11692G>A (p.(Gly3898Ser)), PLEC(NM_201380.3):c.12022G>A (p.G4008S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690187" "0" "30" "8" "144992674" "144992674" "subst" "2.67153E-5" "01943" "PLEC_000599" "g.144992674C>T" "" "" "" "PLEC(NM_201380.3):c.11726G>A (p.R3909H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690188" "0" "30" "8" "144993492" "144993492" "subst" "0.000357549" "01943" "PLEC_000600" "g.144993492G>A" "" "" "" "PLEC(NM_201380.3):c.10908C>T (p.N3636=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690189" "0" "30" "8" "144994088" "144994088" "subst" "4.06762E-6" "01943" "PLEC_000601" "g.144994088C>T" "" "" "" "PLEC(NM_201380.3):c.10312G>A (p.E3438K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690190" "0" "30" "8" "144994521" "144994521" "subst" "7.36838E-5" "01943" "PLEC_000602" "g.144994521G>A" "" "" "" "PLEC(NM_201380.3):c.9879C>T (p.V3293=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690191" "0" "30" "8" "144994656" "144994656" "subst" "0.00208927" "01943" "PLEC_000272" "g.144994656C>T" "" "" "" "PLEC(NM_000445.3):c.9414G>A (p.(Gly3138=)), PLEC(NM_201380.3):c.9744G>A (p.G3248=), PLEC(NM_201380.4):c.9744G>A (p.G3248=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690192" "0" "50" "8" "144998175" "144998175" "subst" "0.00133931" "01943" "PLEC_000127" "g.144998175C>G" "" "" "" "PLEC(NM_000445.3):c.6003G>C (p.(Gln2001His)), PLEC(NM_201380.3):c.6333G>C (p.Q2111H), PLEC(NM_201380.4):c.6333G>C (p.Q2111H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690193" "0" "90" "8" "144998244" "144998245" "ins" "0" "02325" "PLEC_000603" "g.144998244_144998245insCT" "" "" "" "PLEC(NM_000445.5):c.5933_5934insAG (p.R1979Afs*64)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000690194" "0" "30" "8" "144998604" "144998604" "subst" "0.000781267" "01943" "PLEC_000604" "g.144998604C>T" "" "" "" "PLEC(NM_201380.3):c.5904G>A (p.A1968=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690195" "0" "30" "8" "144998811" "144998811" "subst" "7.78137E-5" "01943" "PLEC_000605" "g.144998811G>A" "" "" "" "PLEC(NM_201380.3):c.5697C>T (p.A1899=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690196" "0" "30" "8" "144999731" "144999731" "subst" "0.00366295" "01943" "PLEC_000157" "g.144999731C>T" "" "" "" "PLEC(NM_000445.3):c.4447G>A (p.(Val1483Met)), PLEC(NM_201380.3):c.4777G>A (p.V1593M), PLEC(NM_201380.4):c.4777G>A (p.V1593M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690197" "0" "30" "8" "145011204" "145011204" "subst" "0.00234033" "01943" "PLEC_000218" "g.145011204A>C" "" "" "" "PLEC(NM_201380.3):c.789T>G (p.A263=), PLEC(NM_201380.4):c.789T>G (p.A263=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690198" "0" "30" "8" "145011204" "145011204" "subst" "0.00234033" "02326" "PLEC_000218" "g.145011204A>C" "" "" "" "PLEC(NM_201380.3):c.789T>G (p.A263=), PLEC(NM_201380.4):c.789T>G (p.A263=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690199" "0" "50" "8" "145017995" "145017995" "subst" "0" "02325" "PLEC_000606" "g.145017995C>T" "" "" "" "PLEC(NM_000445.5):c.194-5135G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690200" "0" "30" "8" "145024637" "145024637" "subst" "3.0901E-5" "01943" "PLEC_000607" "g.145024637C>T" "" "" "" "PLEC(NM_201380.3):c.238G>A (p.A80T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690201" "0" "50" "8" "145024748" "145024748" "subst" "1.7333E-5" "02325" "PLEC_000608" "g.145024748C>T" "" "" "" "PLEC(NM_000445.5):c.194-11888G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000699705" "0" "70" "8" "145006993" "145006993" "subst" "0.000145982" "00006" "PLEC_000203" "g.145006993G>A" "" "{PMID:Zaharieva 2016:26700687}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000721819" "0" "30" "8" "144990348" "144990348" "subst" "0.000385946" "02326" "PLEC_000609" "g.144990348G>C" "" "" "" "PLEC(NM_201380.4):c.14052C>G (p.A4684=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721820" "0" "30" "8" "144992439" "144992439" "subst" "4.53873E-6" "01943" "PLEC_000610" "g.144992439G>A" "" "" "" "PLEC(NM_201380.3):c.11961C>T (p.S3987=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721821" "0" "30" "8" "144992571" "144992571" "subst" "0.000463987" "01943" "PLEC_000611" "g.144992571G>A" "" "" "" "PLEC(NM_201380.3):c.11829C>T (p.T3943=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721822" "0" "50" "8" "144992912" "144992912" "subst" "0.000192786" "01943" "PLEC_000261" "g.144992912C>T" "" "" "" "PLEC(NM_201380.3):c.11488G>A (p.A3830T), PLEC(NM_201380.4):c.11488G>A (p.A3830T), PLEC(NM_201384.3):c.11077G>A (p.(Ala3693Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721823" "0" "30" "8" "144993951" "144993951" "subst" "5.74227E-5" "01943" "PLEC_000612" "g.144993951G>A" "" "" "" "PLEC(NM_201380.3):c.10449C>T (p.S3483=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721824" "0" "50" "8" "144994445" "144994445" "subst" "1.89971E-5" "02329" "PLEC_000271" "g.144994445T>C" "" "" "" "PLEC(NM_201380.4):c.9955A>G (p.S3319G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721825" "0" "30" "8" "144994508" "144994508" "subst" "5.15111E-5" "01804" "PLEC_000613" "g.144994508C>G" "" "" "" "PLEC(NM_000445.3):c.9562G>C (p.(Gly3188Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721826" "0" "50" "8" "144995227" "144995227" "subst" "0.000118354" "02329" "PLEC_000074" "g.144995227G>A" "" "" "" "PLEC(NM_000445.3):c.8843C>T (p.(Thr2948Met)), PLEC(NM_201380.3):c.9173C>T (p.T3058M), PLEC(NM_201380.4):c.9173C>T (p.T3058M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721827" "0" "30" "8" "144995712" "144995712" "subst" "0.000212354" "01943" "PLEC_000614" "g.144995712C>T" "" "" "" "PLEC(NM_201380.3):c.8688G>A (p.V2896=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721828" "0" "50" "8" "144996101" "144996101" "subst" "0" "01943" "PLEC_000615" "g.144996101G>A" "" "" "" "PLEC(NM_201380.3):c.8299C>T (p.R2767W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721829" "0" "50" "8" "144996784" "144996784" "subst" "3.2603E-5" "01943" "PLEC_000616" "g.144996784C>T" "" "" "" "PLEC(NM_201380.3):c.7724G>A (p.R2575Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721830" "0" "30" "8" "144997849" "144997849" "subst" "0.000296127" "01943" "PLEC_000118" "g.144997849G>A" "" "" "" "PLEC(NM_201380.3):c.6659C>T (p.A2220V), PLEC(NM_201380.4):c.6659C>T (p.A2220V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721831" "0" "30" "8" "144998076" "144998076" "subst" "0.00159248" "02326" "PLEC_000617" "g.144998076C>T" "" "" "" "PLEC(NM_201380.4):c.6432G>A (p.A2144=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721832" "0" "50" "8" "144998129" "144998129" "subst" "0.000143442" "02329" "PLEC_000124" "g.144998129C>T" "" "" "" "PLEC(NM_201380.3):c.6379G>A (p.V2127M), PLEC(NM_201380.4):c.6379G>A (p.V2127M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721833" "0" "30" "8" "144998175" "144998175" "subst" "0.00133931" "02326" "PLEC_000127" "g.144998175C>G" "" "" "" "PLEC(NM_000445.3):c.6003G>C (p.(Gln2001His)), PLEC(NM_201380.3):c.6333G>C (p.Q2111H), PLEC(NM_201380.4):c.6333G>C (p.Q2111H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721834" "0" "50" "8" "144999073" "144999073" "subst" "0.000619074" "02329" "PLEC_000146" "g.144999073C>T" "" "" "" "PLEC(NM_000445.3):c.5105G>A (p.(Arg1702Gln)), PLEC(NM_201380.4):c.5435G>A (p.R1812Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721835" "0" "50" "8" "144999599" "144999599" "subst" "0" "02329" "PLEC_000491" "g.144999599G>A" "" "" "" "PLEC(NM_000445.5):c.4579C>T (p.R1527W), PLEC(NM_201380.4):c.4909C>T (p.R1637W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721836" "0" "30" "8" "144999733" "144999733" "subst" "6.64024E-5" "01943" "PLEC_000618" "g.144999733C>T" "" "" "" "PLEC(NM_201380.3):c.4775G>A (p.R1592H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721837" "0" "30" "8" "145001652" "145001652" "subst" "0.00380811" "01943" "PLEC_000174" "g.145001652G>A" "" "" "" "PLEC(NM_000445.3):c.3763C>T (p.(Arg1255Trp)), PLEC(NM_201380.3):c.4093C>T (p.R1365W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721838" "0" "50" "8" "145001774" "145001774" "subst" "5.59176E-5" "01943" "PLEC_000619" "g.145001774C>T" "" "" "" "PLEC(NM_201380.3):c.3971G>A (p.R1324H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721839" "0" "30" "8" "145003893" "145003893" "subst" "0.000917497" "01943" "PLEC_000184" "g.145003893G>A" "" "" "" "PLEC(NM_000445.3):c.2925C>T (p.(Pro975=)), PLEC(NM_201380.3):c.3255C>T (p.P1085=), PLEC(NM_201380.4):c.3255C>T (p.P1085=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721840" "0" "30" "8" "145009203" "145009203" "subst" "0.000579313" "01943" "PLEC_000620" "g.145009203G>A" "" "" "" "PLEC(NM_201380.3):c.1212C>T (p.D404=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721841" "0" "30" "8" "145018011" "145018011" "subst" "4.13131E-5" "01943" "PLEC_000621" "g.145018011G>A" "" "" "" "PLEC(NM_201382.3):c.48C>T (p.H16=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721842" "0" "50" "8" "145024459" "145024459" "subst" "0.000151639" "02329" "PLEC_000538" "g.145024459A>G" "" "" "" "PLEC(NM_201380.2):c.416T>C (p.(Val139Ala)), PLEC(NM_201380.4):c.416T>C (p.V139A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803486" "0" "30" "8" "144990987" "144990987" "subst" "2.44284E-5" "01943" "PLEC_000622" "g.144990987G>A" "" "" "" "PLEC(NM_201380.3):c.13413C>T (p.D4471=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803487" "0" "50" "8" "144991082" "144991082" "subst" "0.000294515" "01943" "PLEC_000394" "g.144991082C>T" "" "" "" "PLEC(NM_000445.3):c.12988G>A (p.(Val4330Met)), PLEC(NM_201380.3):c.13318G>A (p.V4440M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803488" "0" "50" "8" "144991172" "144991172" "subst" "0.000341761" "01943" "PLEC_000397" "g.144991172G>A" "" "" "" "PLEC(NM_201380.3):c.13228C>T (p.P4410S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803489" "0" "30" "8" "144991514" "144991514" "subst" "0.000422474" "01804" "PLEC_000623" "g.144991514G>A" "" "" "" "PLEC(NM_000445.3):c.12556C>T (p.(Arg4186Cys)), PLEC(NM_201380.4):c.12886C>T (p.R4296C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803490" "0" "30" "8" "144991584" "144991584" "subst" "1.62803E-5" "01943" "PLEC_000624" "g.144991584G>T" "" "" "" "PLEC(NM_201380.3):c.12816C>A (p.S4272=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803491" "0" "30" "8" "144991599" "144991599" "subst" "0.000101674" "01804" "PLEC_000625" "g.144991599C>T" "" "" "" "PLEC(NM_000445.3):c.12471G>A (p.(Thr4157=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803492" "0" "30" "8" "144992347" "144992347" "subst" "0.000110755" "01804" "PLEC_000626" "g.144992347C>T" "" "" "" "PLEC(NM_000445.3):c.11723G>A (p.(Arg3908His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803493" "0" "30" "8" "144992595" "144992595" "subst" "9.74775E-5" "01943" "PLEC_000627" "g.144992595C>T" "" "" "" "PLEC(NM_201380.3):c.11805G>A (p.R3935=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803494" "0" "30" "8" "144993249" "144993249" "subst" "5.76787E-5" "01943" "PLEC_000628" "g.144993249G>A" "" "" "" "PLEC(NM_201380.3):c.11151C>T (p.H3717=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803495" "0" "30" "8" "144993387" "144993387" "subst" "8.93931E-5" "01804" "PLEC_000629" "g.144993387G>A" "" "" "" "PLEC(NM_000445.3):c.10683C>T (p.(Pro3561=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803496" "0" "50" "8" "144993424" "144993424" "subst" "0.00025184" "01943" "PLEC_000630" "g.144993424G>A" "" "" "" "PLEC(NM_201380.3):c.10976C>T (p.T3659M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803497" "0" "50" "8" "144994064" "144994064" "subst" "0.00475608" "01943" "PLEC_000430" "g.144994064G>A" "" "" "" "PLEC(NM_000445.3):c.10006C>T (p.(Arg3336Cys)), PLEC(NM_201380.3):c.10336C>T (p.R3446C), PLEC(NM_201380.4):c.10336C>T (p.R3446C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803498" "0" "50" "8" "144994585" "144994585" "subst" "2.19668E-5" "01943" "PLEC_000631" "g.144994585T>C" "" "" "" "PLEC(NM_201380.3):c.9815A>G (p.D3272G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803499" "0" "30" "8" "144994656" "144994656" "subst" "0.00208927" "02326" "PLEC_000272" "g.144994656C>T" "" "" "" "PLEC(NM_000445.3):c.9414G>A (p.(Gly3138=)), PLEC(NM_201380.3):c.9744G>A (p.G3248=), PLEC(NM_201380.4):c.9744G>A (p.G3248=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803500" "0" "50" "8" "144994908" "144994908" "subst" "0.000913141" "01943" "PLEC_000440" "g.144994908C>T" "" "" "" "PLEC(NM_000445.3):c.9162G>A (p.(Ala3054=)), PLEC(NM_201380.3):c.9492G>A (p.A3164=), PLEC(NM_201380.4):c.9492G>A (p.A3164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803501" "0" "50" "8" "144994955" "144994955" "subst" "0.000922384" "01943" "PLEC_000284" "g.144994955C>T" "" "" "" "PLEC(NM_201380.3):c.9445G>A (p.E3149K), PLEC(NM_201380.4):c.9445G>A (p.E3149K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803502" "0" "30" "8" "144994955" "144994955" "subst" "0.000922384" "02326" "PLEC_000284" "g.144994955C>T" "" "" "" "PLEC(NM_201380.3):c.9445G>A (p.E3149K), PLEC(NM_201380.4):c.9445G>A (p.E3149K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803503" "0" "30" "8" "144995372" "144995372" "subst" "8.52979E-5" "01943" "PLEC_000632" "g.144995372C>T" "" "" "" "PLEC(NM_201380.3):c.9028G>A (p.E3010K), PLEC(NM_201384.1):c.8617G>A (p.(Glu2873Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803504" "0" "30" "8" "144995407" "144995407" "subst" "1.21846E-5" "01943" "PLEC_000633" "g.144995407T>C" "" "" "" "PLEC(NM_201380.3):c.8993A>G (p.N2998S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803505" "0" "30" "8" "144995949" "144995949" "subst" "0.000922028" "02326" "PLEC_000568" "g.144995949G>A" "" "" "" "PLEC(NM_201380.3):c.8451C>T (p.D2817=), PLEC(NM_201380.4):c.8451C>T (p.D2817=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803506" "0" "50" "8" "144996451" "144996451" "subst" "1.69205E-5" "02325" "PLEC_000634" "g.144996451T>G" "" "" "" "PLEC(NM_000445.3):c.7619A>C (p.(Lys2540Thr)), PLEC(NM_000445.5):c.7619A>C (p.K2540T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803507" "0" "50" "8" "144996452" "144996452" "subst" "1.69115E-5" "02325" "PLEC_000635" "g.144996452T>C" "" "" "" "PLEC(NM_000445.3):c.7618A>G (p.(Lys2540Glu)), PLEC(NM_000445.5):c.7618A>G (p.K2540E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803508" "0" "30" "8" "144997447" "144997447" "subst" "0" "01943" "PLEC_000636" "g.144997447G>A" "" "" "" "PLEC(NM_201380.3):c.7061C>T (p.T2354M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803509" "0" "50" "8" "144998106" "144998108" "del" "0" "01943" "PLEC_000637" "g.144998106_144998108del" "" "" "" "PLEC(NM_201380.3):c.6407_6409delAGG (p.E2136del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803510" "0" "50" "8" "144998132" "144998132" "subst" "0.000177772" "01943" "PLEC_000348" "g.144998132G>A" "" "" "" "PLEC(NM_000445.3):c.6046C>T (p.(Arg2016Cys)), PLEC(NM_201380.3):c.6376C>T (p.R2126C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803511" "0" "50" "8" "144998870" "144998870" "subst" "0.000451802" "01943" "PLEC_000353" "g.144998870C>T" "" "" "" "PLEC(NM_201380.3):c.5638G>A (p.A1880T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803512" "0" "50" "8" "144998942" "144998942" "subst" "5.59266E-5" "02329" "PLEC_000638" "g.144998942G>A" "" "" "" "PLEC(NM_000445.4):c.5236C>T (p.R1746W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803513" "0" "50" "8" "144999979" "144999979" "subst" "4.2271E-5" "01943" "PLEC_000639" "g.144999979C>T" "" "" "" "PLEC(NM_000445.5):c.4199G>A (p.R1400Q), PLEC(NM_201380.3):c.4529G>A (p.R1510Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803514" "0" "50" "8" "144999979" "144999979" "subst" "4.2271E-5" "02325" "PLEC_000639" "g.144999979C>T" "" "" "" "PLEC(NM_000445.5):c.4199G>A (p.R1400Q), PLEC(NM_201380.3):c.4529G>A (p.R1510Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803515" "0" "50" "8" "145000022" "145000022" "subst" "7.77638E-5" "02329" "PLEC_000243" "g.145000022G>A" "" "" "" "PLEC(NM_000445.4):c.4156C>T (p.R1386C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803516" "0" "50" "8" "145004345" "145004345" "subst" "0" "01943" "PLEC_000640" "g.145004345G>A" "" "" "" "PLEC(NM_201380.3):c.2990C>T (p.P997L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803517" "0" "50" "8" "145004373" "145004373" "subst" "0.000552949" "01943" "PLEC_000511" "g.145004373C>T" "" "" "" "PLEC(NM_000445.3):c.2632G>A (p.(Val878Met)), PLEC(NM_201380.3):c.2962G>A (p.V988M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803518" "0" "50" "8" "145005737" "145005737" "subst" "0" "02325" "PLEC_000641" "g.145005737C>T" "" "" "" "PLEC(NM_000445.5):c.2350G>A (p.V784I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803519" "0" "30" "8" "145007362" "145007362" "subst" "0" "01943" "PLEC_000642" "g.145007362C>T" "" "" "" "PLEC(NM_201380.3):c.1829+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803520" "0" "30" "8" "145008238" "145008238" "subst" "5.42612E-5" "01943" "PLEC_000643" "g.145008238G>A" "" "" "" "PLEC(NM_201380.3):c.1602C>T (p.I534=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803521" "0" "30" "8" "145010011" "145010011" "subst" "0.000245604" "02325" "PLEC_000644" "g.145010011T>C" "" "" "" "PLEC(NM_000445.5):c.683+5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803522" "0" "30" "8" "145013597" "145013597" "subst" "1.23602E-5" "01804" "PLEC_000645" "g.145013597G>A" "" "" "" "PLEC(NM_201384.1):c.33C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803523" "0" "50" "8" "145024734" "145024734" "subst" "0" "01804" "PLEC_000646" "g.145024734C>T" "" "" "" "PLEC(NM_201380.2):c.141G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803524" "0" "30" "8" "145024783" "145024783" "subst" "0.000878106" "02326" "PLEC_000578" "g.145024783C>T" "" "" "" "PLEC(NM_201380.3):c.92G>A (p.R31Q), PLEC(NM_201380.4):c.92G>A (p.R31Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000819275" "0" "50" "8" "144998382" "144998382" "subst" "8.76978E-6" "00006" "PLEC_000647" "g.144998382C>G" "" "{PMID:Chakravorty 2020:33250842}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000819281" "0" "50" "8" "144998654" "144998654" "subst" "0.000851564" "00006" "PLEC_000138" "g.144998654G>A" "" "{PMID:Chakravorty 2020:33250842}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000819282" "0" "70" "8" "144998724" "144998736" "del" "0" "00006" "PLEC_000648" "g.144998724_144998736del" "" "{PMID:Chakravorty 2020:33250842}" "" "5447_5459delTGGAGGCCGAGGC" "" "Germline" "" "" "0" "" "" "g.143924556_143924568del" "" "likely pathogenic" "" "0000823838" "0" "50" "8" "145008496" "145008496" "subst" "2.04599E-5" "03501" "PLEC_000663" "g.145008496C>T" "" "{PMID:Karthikeyan 2024:39548682}" "" "" "Novel variant (2021)" "Germline/De novo (untested)" "" "" "0" "" "" "g.143934328C>T" "" "VUS" "" "0000823902" "0" "50" "8" "145007031" "145007031" "subst" "0" "03501" "PLEC_000662" "g.145007031C>T" "" "{PMID:Karthikeyan 2024:39548682}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.143932863C>T" "" "VUS" "" "0000823942" "0" "50" "8" "144993917" "144993917" "subst" "7.4643E-5" "03501" "PLEC_000652" "g.144993917C>T" "" "{PMID:Karthikeyan 2024:39548682}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.143919749C>T" "" "VUS" "" "0000823957" "0" "50" "8" "144999500" "144999500" "subst" "0.000136296" "03501" "PLEC_000656" "g.144999500G>A" "" "{PMID:Karthikeyan 2024:39548682}" "" "DYSF c.5008C>T (Arg1670Trp)" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.143925332G>A" "" "VUS" "" "0000823962" "0" "50" "8" "144997786" "144997786" "subst" "0.00243471" "03501" "PLEC_000344" "g.144997786G>A" "" "{PMID:Karthikeyan 2024:39548682}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.143923618G>A" "" "VUS" "" "0000823966" "0" "50" "8" "145001473" "145001473" "subst" "0.000472327" "03501" "PLEC_000658" "g.145001473C>T" "" "{PMID:Karthikeyan 2024:39548682}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.143927305C>T" "" "VUS" "" "0000823977" "0" "50" "8" "145001473" "145001473" "subst" "0.000472327" "03501" "PLEC_000658" "g.145001473C>T" "" "{PMID:Karthikeyan 2024:39548682}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.143927305C>T" "" "VUS" "" "0000823979" "0" "50" "8" "145006859" "145006859" "subst" "5.28355E-5" "03501" "PLEC_000661" "g.145006859G>A" "" "{PMID:Karthikeyan 2024:39548682}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.143932691G>A" "" "VUS" "" "0000823989" "0" "50" "8" "145003701" "145003701" "subst" "8.35617E-5" "03501" "PLEC_000659" "g.145003701C>G" "" "{PMID:Karthikeyan 2024:39548682}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.143929533C>G" "" "VUS" "" "0000823991" "0" "50" "8" "144991228" "144991228" "subst" "0" "03501" "PLEC_000649" "g.144991228G>A" "" "{PMID:Karthikeyan 2024:39548682}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.143917060G>A" "" "VUS" "" "0000823998" "0" "50" "8" "145003942" "145003942" "subst" "3.08694E-5" "03501" "PLEC_000660" "g.145003942T>C" "" "{PMID:Karthikeyan 2024:39548682}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.143929774T>C" "" "VUS" "" "0000824002" "0" "50" "8" "144995513" "144995513" "subst" "2.03749E-5" "03501" "PLEC_000654" "g.144995513C>T" "" "{PMID:Karthikeyan 2024:39548682}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.143921345C>T" "" "VUS" "" "0000824005" "0" "50" "8" "144999751" "144999751" "subst" "0.000241188" "03501" "PLEC_000657" "g.144999751C>T" "" "{PMID:Karthikeyan 2024:39548682}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.143925583C>T" "" "VUS" "" "0000828420" "1" "50" "8" "144991258" "144991258" "subst" "3.6958E-5" "00006" "PLEC_000666" "g.144991258C>T" "" "{PMID:Liang 2020:32576226}" "" "12731G>A (Arg4244His)" "" "Germline" "" "" "0" "" "" "g.143917090C>T" "" "VUS" "" "0000828436" "2" "50" "8" "144996061" "144996061" "subst" "0.000208779" "00006" "PLEC_000667" "g.144996061T>C" "" "{PMID:Liang 2020:32576226}" "" "" "" "Germline" "" "" "0" "" "" "g.143921893T>C" "" "VUS" "" "0000829145" "0" "50" "8" "144990923" "144990923" "subst" "0" "00006" "PLEC_000664" "g.144990923A>G" "" "{PMID:Fichna 2018:29970176}" "" "" "" "Germline" "" "" "0" "" "" "g.143916755A>G" "" "VUS" "" "0000829201" "0" "70" "8" "145003355" "145003355" "subst" "7.86571E-5" "00006" "PLEC_000665" "g.145003355G>A" "" "{PMID:Fichna 2018:29970176}" "" "" "" "Germline" "" "rs529986115" "0" "" "" "g.143929187G>A" "" "likely pathogenic" "" "0000833145" "1" "70" "8" "144998981" "144998981" "subst" "0" "00006" "PLEC_000668" "g.144998981G>C" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "NM_201380.2:c.5527C>G" "" "Germline" "" "" "0" "" "" "g.143924813G>C" "" "likely pathogenic" "" "0000833198" "2" "70" "8" "145005825" "145005827" "del" "0" "00006" "PLEC_000054" "g.145005825_145005827del" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "NM_201380.2:c.2594_2596del" "" "Germline" "" "" "0" "" "" "g.143931657_143931659del" "" "likely pathogenic" "" "0000846724" "0" "90" "8" "144993439" "144993439" "subst" "3.65574E-5" "04295" "PLEC_000669" "g.144993439G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.143919271G>A" "" "likely pathogenic" "ACMG" "0000846725" "0" "90" "8" "145007105" "145007105" "subst" "0" "04295" "PLEC_000670" "g.145007105C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.143932937C>T" "" "pathogenic" "" "0000846726" "1" "90" "8" "144997735" "144997735" "del" "0" "04295" "PLEC_000671" "g.144997735del" "" "" "" "144997735GC>G" "" "Germline" "" "" "0" "" "" "g.143923567del" "" "pathogenic" "" "0000846727" "0" "90" "8" "145008188" "145008188" "subst" "0" "04295" "PLEC_000672" "g.145008188T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000846728" "0" "90" "8" "144999071" "144999071" "subst" "0.000337348" "04295" "PLEC_000145" "g.144999071G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000846729" "0" "90" "8" "144996824" "144996824" "subst" "0" "04295" "PLEC_000674" "g.144996824G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.143922656G>A" "" "pathogenic" "" "0000846730" "0" "90" "8" "145006960" "145006960" "subst" "0" "04295" "PLEC_000673" "g.145006960C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.143932792C>T" "" "likely pathogenic" "" "0000851816" "0" "30" "8" "144991347" "144991347" "subst" "0.0018027" "02326" "PLEC_000401" "g.144991347G>A" "" "" "" "PLEC(NM_000445.3):c.12723C>T (p.(Ile4241=)), PLEC(NM_201380.3):c.13053C>T (p.I4351=), PLEC(NM_201380.4):c.13053C>T (p.I4351=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851817" "0" "50" "8" "144992512" "144992512" "subst" "4.12443E-5" "02327" "PLEC_000677" "g.144992512C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851818" "0" "50" "8" "144993119" "144993119" "subst" "0.000205577" "02325" "PLEC_000680" "g.144993119C>T" "" "" "" "PLEC(NM_000445.5):c.10951G>A (p.E3651K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851819" "0" "50" "8" "144993687" "144993687" "subst" "0.0003721" "01804" "PLEC_000682" "g.144993687G>T" "" "" "" "PLEC(NM_000445.3):c.10383C>A (p.(Thr3461=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851820" "0" "30" "8" "144994060" "144994060" "subst" "0.000318279" "01943" "PLEC_000685" "g.144994060G>A" "" "" "" "PLEC(NM_201380.3):c.10340C>T (p.A3447V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851821" "0" "30" "8" "144994554" "144994554" "subst" "0.00169145" "01804" "PLEC_000438" "g.144994554G>A" "" "" "" "PLEC(NM_000445.3):c.9516C>T (p.(=)), PLEC(NM_201380.3):c.9846C>T (p.D3282=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851822" "0" "50" "8" "144995753" "144995753" "subst" "3.68562E-5" "01943" "PLEC_000690" "g.144995753G>A" "" "" "" "PLEC(NM_201380.3):c.8647C>T (p.R2883W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851823" "0" "30" "8" "144996987" "144996987" "subst" "0.00293078" "01804" "PLEC_000693" "g.144996987G>A" "" "" "" "PLEC(NM_000445.3):c.7191C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851824" "0" "30" "8" "144999094" "144999094" "subst" "4.61066E-5" "01943" "PLEC_000698" "g.144999094T>G" "" "" "" "PLEC(NM_201380.3):c.5414A>C (p.E1805A), PLEC(NM_201384.1):c.5003A>C (p.(Glu1668Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851825" "0" "30" "8" "144999462" "144999462" "subst" "0.00177517" "01804" "PLEC_000489" "g.144999462C>T" "" "" "" "PLEC(NM_000445.3):c.4716G>A (p.(=)), PLEC(NM_201380.3):c.5046G>A (p.A1682=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851826" "0" "50" "8" "144999665" "144999665" "subst" "0" "02327" "PLEC_000702" "g.144999665G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851827" "0" "30" "8" "144999994" "144999994" "subst" "3.26009E-5" "01943" "PLEC_000703" "g.144999994G>A" "" "" "" "PLEC(NM_201380.3):c.4514C>T (p.A1505V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851828" "0" "30" "8" "145001791" "145001791" "subst" "0.00177359" "02326" "PLEC_000177" "g.145001791G>A" "" "" "" "PLEC(NM_000445.3):c.3624C>T (p.(Val1208=)), PLEC(NM_201380.3):c.3954C>T (p.V1318=), PLEC(NM_201380.4):c.3954C>T (p.V1318=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851829" "0" "30" "8" "145003339" "145003339" "subst" "0.00248233" "01804" "PLEC_000707" "g.145003339G>A" "" "" "" "PLEC(NM_000445.3):c.3273C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851830" "0" "50" "8" "145008155" "145008156" "ins" "0" "02326" "PLEC_000712" "g.145008155_145008156insCG" "" "" "" "PLEC(NM_201380.4):c.1674+10_1674+11insCG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851831" "0" "50" "8" "145008157" "145008158" "ins" "0.000100479" "02326" "PLEC_000713" "g.145008157_145008158insTGCTG" "" "" "" "PLEC(NM_201380.4):c.1674+8_1674+9insCAGCA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851832" "0" "50" "8" "145008159" "145008160" "ins" "0.000113431" "02326" "PLEC_000714" "g.145008159_145008160insTCACCGACTG" "" "" "" "PLEC(NM_201380.4):c.1674+6_1674+7insCAGTCGGTGA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851833" "0" "50" "8" "145008841" "145008841" "subst" "1.62746E-5" "02325" "PLEC_000715" "g.145008841C>T" "" "" "" "PLEC(NM_000445.5):c.1084G>A (p.D362N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851834" "0" "30" "8" "145013592" "145013592" "subst" "0" "01943" "PLEC_000717" "g.145013592C>G" "" "" "" "PLEC(NM_201384.2):c.38G>C (p.G13A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851835" "0" "30" "8" "145017937" "145017937" "subst" "0.00167001" "01804" "PLEC_000718" "g.145017937C>A" "" "" "" "PLEC(NM_201382.2):c.112+10G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861083" "0" "30" "8" "144990747" "144990747" "subst" "6.34164E-5" "01804" "PLEC_000564" "g.144990747G>A" "" "" "" "PLEC(NM_000445.3):c.13323C>T (p.(Arg4441=)), PLEC(NM_201380.3):c.13653C>T (p.R4551=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861084" "0" "30" "8" "144990783" "144990783" "subst" "8.49776E-5" "01804" "PLEC_000675" "g.144990783C>T" "" "" "" "PLEC(NM_000445.3):c.13287G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861085" "0" "30" "8" "144990879" "144990879" "subst" "0.0122624" "01804" "PLEC_000247" "g.144990879G>A" "" "" "" "PLEC(NM_000445.3):c.13191C>T (p.(Ala4397=)), PLEC(NM_201380.4):c.13521C>T (p.A4507=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861086" "0" "30" "8" "144991546" "144991546" "subst" "1.63409E-5" "01804" "PLEC_000676" "g.144991546G>A" "" "" "" "PLEC(NM_000445.3):c.12524C>T (p.(Thr4175Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861087" "0" "30" "8" "144992442" "144992442" "subst" "4.99814E-5" "01804" "PLEC_000587" "g.144992442C>T" "" "" "" "PLEC(NM_000445.3):c.11628G>A (p.(Pro3876=)), PLEC(NM_201380.3):c.11958G>A (p.P3986=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861088" "0" "30" "8" "144992546" "144992546" "subst" "0.000311444" "01804" "PLEC_000678" "g.144992546C>G" "" "" "" "PLEC(NM_000445.3):c.11524G>C (p.(Gly3842Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861089" "0" "50" "8" "144992647" "144992647" "subst" "1.40559E-5" "02325" "PLEC_000679" "g.144992647G>A" "" "" "" "PLEC(NM_000445.5):c.11423C>T (p.S3808L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861090" "0" "30" "8" "144992781" "144992781" "subst" "0.00365097" "01804" "PLEC_000413" "g.144992781C>T" "" "" "" "PLEC(NM_000445.3):c.11289G>A (p.(Pro3763=)), PLEC(NM_201380.3):c.11619G>A (p.P3873=), PLEC(NM_201380.4):c.11619G>A (p.P3873=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861091" "0" "30" "8" "144992782" "144992782" "subst" "0.000345522" "01804" "PLEC_000312" "g.144992782G>A" "" "" "" "PLEC(NM_000445.3):c.11288C>T (p.(Pro3763Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861092" "0" "30" "8" "144993273" "144993273" "subst" "0.000334915" "01943" "PLEC_000681" "g.144993273G>A" "" "" "" "PLEC(NM_000445.3):c.10797C>T (p.(Ile3599=)), PLEC(NM_201380.3):c.11127C>T (p.I3709=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861093" "0" "50" "8" "144993817" "144993817" "subst" "4.5148E-5" "02325" "PLEC_000683" "g.144993817G>A" "" "" "" "PLEC(NM_000445.5):c.10253C>T (p.A3418V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861094" "0" "30" "8" "144993873" "144993873" "subst" "1.67761E-5" "01804" "PLEC_000684" "g.144993873G>A" "" "" "" "PLEC(NM_000445.3):c.10197C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861095" "0" "30" "8" "144994094" "144994094" "subst" "0.000882781" "01804" "PLEC_000686" "g.144994094G>A" "" "" "" "PLEC(NM_000445.3):c.9976C>T (p.(Arg3326Trp)), PLEC(NM_201380.4):c.10306C>T (p.R3436W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861096" "0" "30" "8" "144994148" "144994148" "subst" "0.000207417" "01804" "PLEC_000432" "g.144994148C>T" "" "" "" "PLEC(NM_000445.3):c.9922G>A (p.(Val3308Met)), PLEC(NM_201380.3):c.10252G>A (p.V3418M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861097" "0" "30" "8" "144994263" "144994263" "subst" "3.67059E-5" "01804" "PLEC_000687" "g.144994263G>A" "" "" "" "PLEC(NM_000445.3):c.9807C>T (p.(Pro3269=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861098" "0" "30" "8" "144994515" "144994515" "subst" "0" "01804" "PLEC_000688" "g.144994515G>A" "" "" "" "PLEC(NM_000445.3):c.9555C>T (p.(Cys3185=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861099" "0" "30" "8" "144994638" "144994638" "subst" "0.00183" "01804" "PLEC_000689" "g.144994638G>A" "" "" "" "PLEC(NM_000445.3):c.9432C>T (p.(Phe3144=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861100" "0" "30" "8" "144996038" "144996038" "subst" "0.00136836" "01804" "PLEC_000452" "g.144996038G>A" "" "" "" "PLEC(NM_000445.3):c.8032C>T (p.(Arg2678Trp)), PLEC(NM_201380.3):c.8362C>T (p.R2788W), PLEC(NM_201380.4):c.8362C>T (p.R2788W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861101" "0" "30" "8" "144996066" "144996066" "subst" "0" "01804" "PLEC_000691" "g.144996066C>A" "" "" "" "PLEC(NM_000445.3):c.8004G>T (p.(Glu2668Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861102" "0" "50" "8" "144996451" "144996451" "subst" "1.69205E-5" "01804" "PLEC_000634" "g.144996451T>G" "" "" "" "PLEC(NM_000445.3):c.7619A>C (p.(Lys2540Thr)), PLEC(NM_000445.5):c.7619A>C (p.K2540T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861103" "0" "50" "8" "144996452" "144996452" "subst" "1.69115E-5" "01804" "PLEC_000635" "g.144996452T>C" "" "" "" "PLEC(NM_000445.3):c.7618A>G (p.(Lys2540Glu)), PLEC(NM_000445.5):c.7618A>G (p.K2540E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861104" "0" "30" "8" "144996830" "144996830" "subst" "0.00278932" "01804" "PLEC_000099" "g.144996830C>T" "" "" "" "PLEC(NM_000445.3):c.7348G>A (p.(Ala2450Thr)), PLEC(NM_201380.3):c.7678G>A (p.A2560T), PLEC(NM_201380.4):c.7678G>A (p.A2560T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861106" "0" "30" "8" "144997503" "144997503" "subst" "0.00130853" "01804" "PLEC_000108" "g.144997503G>A" "" "" "" "PLEC(NM_000445.3):c.6675C>T (p.(Thr2225=)), PLEC(NM_201380.3):c.7005C>T (p.T2335=), PLEC(NM_201380.4):c.7005C>T (p.T2335=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861107" "0" "30" "8" "144997561" "144997561" "subst" "0.000480508" "01804" "PLEC_000292" "g.144997561C>T" "" "" "" "PLEC(NM_000445.3):c.6617G>A (p.(Arg2206Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861108" "0" "30" "8" "144997708" "144997713" "dup" "0" "01804" "PLEC_000694" "g.144997708_144997713dup" "" "" "" "PLEC(NM_000445.3):c.6473_6474insTCAGGC (p.(Gln2159_Ala2160dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861109" "0" "30" "8" "144997874" "144997874" "subst" "1.44632E-5" "01804" "PLEC_000695" "g.144997874C>T" "" "" "" "PLEC(NM_000445.3):c.6304G>A (p.(Val2102Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861110" "0" "30" "8" "144998028" "144998028" "subst" "0.0020224" "01804" "PLEC_000696" "g.144998028G>C" "" "" "" "PLEC(NM_000445.3):c.6150C>G (p.(Arg2050=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861111" "0" "30" "8" "144999069" "144999069" "subst" "0.00121216" "01804" "PLEC_000697" "g.144999069G>A" "" "" "" "PLEC(NM_000445.3):c.5109C>T (p.(Arg1703=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861112" "0" "30" "8" "144999369" "144999369" "subst" "0.000134386" "01804" "PLEC_000699" "g.144999369C>T" "" "" "" "PLEC(NM_000445.3):c.4809G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861113" "0" "50" "8" "144999517" "144999517" "subst" "0.000131727" "01804" "PLEC_000700" "g.144999517G>A" "" "" "" "PLEC(NM_000445.3):c.4661C>T (p.(Ala1554Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861114" "0" "50" "8" "144999559" "144999559" "subst" "0" "01804" "PLEC_000701" "g.144999559G>A" "" "" "" "PLEC(NM_000445.3):c.4619C>T (p.(Ala1540Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861115" "0" "30" "8" "144999746" "144999746" "subst" "0.000638967" "01804" "PLEC_000363" "g.144999746C>T" "" "" "" "PLEC(NM_000445.3):c.4432G>A (p.(Glu1478Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861116" "0" "30" "8" "145002046" "145002046" "subst" "5.04841E-6" "01804" "PLEC_000704" "g.145002046G>C" "" "" "" "PLEC(NM_000445.3):c.3456C>G (p.(Leu1152=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861117" "0" "50" "8" "145002123" "145002123" "subst" "6.02866E-5" "01804" "PLEC_000705" "g.145002123C>G" "" "" "" "PLEC(NM_000445.3):c.3379G>C (p.(Gly1127Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861118" "0" "30" "8" "145003321" "145003321" "subst" "0.000416924" "01804" "PLEC_000706" "g.145003321C>T" "" "" "" "PLEC(NM_000445.3):c.3291G>A (p.(Thr1097=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861119" "0" "30" "8" "145006316" "145006316" "subst" "0.000156627" "01804" "PLEC_000708" "g.145006316C>T" "" "" "" "PLEC(NM_000445.3):c.2145G>A (p.(Pro715=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861120" "0" "30" "8" "145007192" "145007192" "subst" "8.67952E-5" "01804" "PLEC_000709" "g.145007192C>G" "" "" "" "PLEC(NM_000445.3):c.1587G>C (p.(Gln529His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861121" "0" "30" "8" "145007228" "145007228" "subst" "0" "01804" "PLEC_000710" "g.145007228T>C" "" "" "" "PLEC(NM_000445.3):c.1551A>G (p.(Leu517=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861122" "0" "30" "8" "145007346" "145007346" "subst" "0" "01804" "PLEC_000711" "g.145007346A>T" "" "" "" "PLEC(NM_000445.3):c.1499+19T>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861123" "0" "90" "8" "145010083" "145010083" "subst" "0" "02327" "PLEC_000716" "g.145010083G>A" "" "" "" "PLEC(NM_201384.1):c.535C>T (p.(Arg179*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000861124" "0" "30" "8" "145013572" "145013572" "subst" "0.000645411" "01804" "PLEC_000221" "g.145013572T>C" "" "" "" "PLEC(NM_201384.1):c.58A>G (p.(Ser20Gly)), PLEC(NM_201384.2):c.58A>G (p.S20G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888198" "0" "30" "8" "144990510" "144990510" "subst" "0.000758274" "02326" "PLEC_000058" "g.144990510C>T" "" "" "" "PLEC(NM_201380.3):c.13890G>A (p.S4630=), PLEC(NM_201380.4):c.13890G>A (p.S4630=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888199" "0" "90" "8" "144991046" "144991046" "subst" "0" "02325" "PLEC_000719" "g.144991046G>A" "" "" "" "PLEC(NM_000445.5):c.13024C>T (p.Q4342*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888200" "0" "50" "8" "144991126" "144991126" "subst" "4.9274E-5" "01804" "PLEC_000298" "g.144991126G>A" "" "" "" "PLEC(NM_000445.3):c.12944C>T (p.(Thr4315Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888201" "0" "50" "8" "144992393" "144992393" "subst" "1.44979E-5" "02325" "PLEC_000412" "g.144992393G>A" "" "" "" "PLEC(NM_000445.5):c.11677C>T (p.R3893C), PLEC(NM_201380.3):c.12007C>T (p.R4003C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888202" "0" "30" "8" "144992706" "144992706" "subst" "4.26218E-6" "02326" "PLEC_000720" "g.144992706C>G" "" "" "" "PLEC(NM_201380.4):c.11694G>C (p.L3898=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888203" "0" "30" "8" "144993273" "144993273" "subst" "0.000334915" "01804" "PLEC_000681" "g.144993273G>A" "" "" "" "PLEC(NM_000445.3):c.10797C>T (p.(Ile3599=)), PLEC(NM_201380.3):c.11127C>T (p.I3709=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888204" "0" "30" "8" "144994884" "144994884" "subst" "0" "01804" "PLEC_000721" "g.144994884C>A" "" "" "" "PLEC(NM_000445.3):c.9186G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888205" "0" "30" "8" "144995345" "144995345" "subst" "0.000101569" "01804" "PLEC_000722" "g.144995345G>A" "" "" "" "PLEC(NM_000445.3):c.8725C>T (p.(Leu2909=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888206" "0" "50" "8" "144996320" "144996320" "subst" "0.000389408" "02325" "PLEC_000096" "g.144996320G>A" "" "" "" "PLEC(NM_000445.3):c.7750C>T (p.(Arg2584Trp)), PLEC(NM_000445.5):c.7750C>T (p.R2584W), PLEC(NM_201380.3):c.8080C>T (p.R2694W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888207" "0" "50" "8" "144997717" "144997717" "subst" "0" "02329" "PLEC_000723" "g.144997717G>A" "" "" "" "PLEC(NM_201380.4):c.6791C>T (p.A2264V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888208" "0" "10" "8" "144997786" "144997786" "subst" "0.00243471" "01804" "PLEC_000344" "g.144997786G>A" "" "" "" "PLEC(NM_000445.3):c.6392C>T (p.(Ala2131Val)), PLEC(NM_201380.4):c.6722C>T (p.A2241V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888209" "0" "30" "8" "144997998" "144997998" "subst" "0.000327776" "02326" "PLEC_000724" "g.144997998C>T" "" "" "" "PLEC(NM_201380.4):c.6510G>A (p.A2170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888210" "0" "50" "8" "144998035" "144998035" "subst" "0.000320779" "02325" "PLEC_000471" "g.144998035G>A" "" "" "" "PLEC(NM_000445.5):c.6143C>T (p.A2048V), PLEC(NM_201380.3):c.6473C>T (p.A2158V), PLEC(NM_201384.3):c.6062C>T (p.(Ala2021Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888211" "0" "30" "8" "144998626" "144998626" "subst" "0.00135063" "01804" "PLEC_000351" "g.144998626G>A" "" "" "" "PLEC(NM_000445.3):c.5552C>T (p.(Ala1851Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888212" "0" "30" "8" "144999390" "144999390" "subst" "4.86121E-6" "01804" "PLEC_000725" "g.144999390C>G" "" "" "" "PLEC(NM_000445.3):c.4788G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888213" "0" "30" "8" "144999499" "144999499" "subst" "0.00400156" "02326" "PLEC_000150" "g.144999499C>T" "" "" "" "PLEC(NM_000445.3):c.4679G>A (p.(Arg1560Gln)), PLEC(NM_201380.4):c.5009G>A (p.R1670Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888214" "0" "50" "8" "144999599" "144999599" "subst" "0" "02325" "PLEC_000491" "g.144999599G>A" "" "" "" "PLEC(NM_000445.5):c.4579C>T (p.R1527W), PLEC(NM_201380.4):c.4909C>T (p.R1637W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888215" "0" "30" "8" "144999687" "144999687" "subst" "4.15574E-5" "01804" "PLEC_000726" "g.144999687C>T" "" "" "" "PLEC(NM_000445.3):c.4491G>A (p.(Gly1497=)), PLEC(NM_201380.4):c.4821G>A (p.G1607=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888216" "0" "30" "8" "144999687" "144999687" "subst" "4.15574E-5" "02326" "PLEC_000726" "g.144999687C>T" "" "" "" "PLEC(NM_000445.3):c.4491G>A (p.(Gly1497=)), PLEC(NM_201380.4):c.4821G>A (p.G1607=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888217" "0" "50" "8" "145001697" "145001697" "subst" "0" "02329" "PLEC_000727" "g.145001697G>A" "" "" "" "PLEC(NM_201380.4):c.4048C>T (p.R1350C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888218" "0" "50" "8" "145001900" "145001900" "subst" "0.000228607" "02325" "PLEC_000728" "g.145001900G>A" "" "" "" "PLEC(NM_000445.5):c.3515C>T (p.T1172M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888219" "0" "50" "8" "145002053" "145002053" "subst" "0.000197814" "02325" "PLEC_000371" "g.145002053G>A" "" "" "" "PLEC(NM_000445.3):c.3449C>T (p.(Pro1150Leu)), PLEC(NM_000445.5):c.3449C>T (p.P1150L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888220" "0" "50" "8" "145004139" "145004139" "subst" "0.000132802" "01804" "PLEC_000729" "g.145004139C>T" "" "" "" "PLEC(NM_000445.3):c.2785G>A (p.(Asp929Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888221" "0" "50" "8" "145009237" "145009237" "subst" "8.14472E-6" "01804" "PLEC_000730" "g.145009237G>A" "" "" "" "PLEC(NM_000445.3):c.848C>T (p.(Ser283Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912892" "0" "50" "8" "144992923" "144992923" "subst" "7.37089E-5" "02325" "PLEC_000731" "g.144992923G>A" "" "" "" "PLEC(NM_000445.5):c.11147C>T (p.T3716M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912893" "0" "10" "8" "144994044" "144994044" "subst" "0.00635474" "02325" "PLEC_000428" "g.144994044G>A" "" "" "" "PLEC(NM_000445.3):c.10026C>T (p.(Ser3342=)), PLEC(NM_000445.5):c.10026C>T (p.S3342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912894" "0" "50" "8" "144997361" "144997361" "subst" "4.61533E-5" "02325" "PLEC_000732" "g.144997361G>A" "" "" "" "PLEC(NM_000445.5):c.6817C>T (p.R2273C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912895" "0" "30" "8" "144999073" "144999073" "subst" "0.000619074" "01804" "PLEC_000146" "g.144999073C>T" "" "" "" "PLEC(NM_000445.3):c.5105G>A (p.(Arg1702Gln)), PLEC(NM_201380.4):c.5435G>A (p.R1812Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912896" "0" "50" "8" "144999425" "144999425" "subst" "0" "02325" "PLEC_000733" "g.144999425C>G" "" "" "" "PLEC(NM_000445.5):c.4753G>C (p.E1585Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912897" "0" "30" "8" "144999573" "144999573" "subst" "0.000405159" "01804" "PLEC_000734" "g.144999573C>T" "" "" "" "PLEC(NM_000445.3):c.4605G>A (p.(Gln1535=)), PLEC(NM_201380.4):c.4935G>A (p.Q1645=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912898" "0" "30" "8" "145003593" "145003593" "subst" "0.000176079" "02325" "PLEC_000735" "g.145003593C>T" "" "" "" "PLEC(NM_000445.5):c.3151G>A (p.A1051T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912899" "0" "30" "8" "145004376" "145004376" "subst" "0.00804512" "01804" "PLEC_000736" "g.145004376C>T" "" "" "" "PLEC(NM_000445.3):c.2629G>A (p.(Ala877Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912900" "0" "50" "8" "145008242" "145008242" "subst" "4.18424E-6" "02325" "PLEC_000737" "g.145008242C>T" "" "" "" "PLEC(NM_000445.5):c.1268G>A (p.R423H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000917170" "0" "50" "8" "144991259" "144991259" "subst" "5.74453E-5" "00006" "PLEC_000739" "g.144991259G>A" "" "{PMID:Cavdarli 2023:36575883}" "" "" "" "Germline" "" "" "0" "" "" "g.143917091G>A" "" "VUS" "" "0000917172" "3" "50" "8" "144991115" "144991115" "subst" "0" "00006" "PLEC_000738" "g.144991115C>A" "" "{PMID:Cavdarli 2023:36575883}" "" "" "" "Germline" "" "" "0" "" "" "g.143916947C>A" "" "VUS" "" "0000924832" "0" "50" "8" "144990403" "144990403" "subst" "0" "02325" "PLEC_000740" "g.144990403C>T" "" "" "" "PLEC(NM_000445.5):c.13667G>A (p.R4556H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924833" "0" "30" "8" "144993786" "144993786" "subst" "0.000468625" "01804" "PLEC_000423" "g.144993786G>A" "" "" "" "PLEC(NM_000445.3):c.10284C>T (p.(Pro3428=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924834" "0" "30" "8" "144995483" "144995483" "subst" "0.00150398" "02326" "PLEC_000333" "g.144995483C>T" "" "" "" "PLEC(NM_000445.3):c.8587G>A (p.(Asp2863Asn)), PLEC(NM_201380.4):c.8917G>A (p.D2973N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924835" "0" "30" "8" "144995814" "144995814" "subst" "8.20297E-6" "01804" "PLEC_000741" "g.144995814C>T" "" "" "" "PLEC(NM_000445.3):c.8256G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924836" "0" "50" "8" "144997552" "144997552" "subst" "2.13743E-5" "02325" "PLEC_000462" "g.144997552G>A" "" "" "" "PLEC(NM_000445.5):c.6626C>T (p.A2209V), PLEC(NM_201380.4):c.6956C>T (p.A2319V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924837" "0" "30" "8" "144998001" "144998001" "subst" "0.000139909" "02326" "PLEC_000742" "g.144998001C>T" "" "" "" "PLEC(NM_201380.4):c.6507G>A (p.S2169=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924838" "0" "50" "8" "144998179" "144998179" "subst" "3.85149E-5" "02325" "PLEC_000743" "g.144998179C>T" "" "" "" "PLEC(NM_000445.5):c.5999G>A (p.R2000Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929418" "0" "30" "8" "144991514" "144991514" "subst" "0.000422474" "02326" "PLEC_000623" "g.144991514G>A" "" "" "" "PLEC(NM_000445.3):c.12556C>T (p.(Arg4186Cys)), PLEC(NM_201380.4):c.12886C>T (p.R4296C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929419" "0" "30" "8" "144994094" "144994094" "subst" "0.000882781" "02326" "PLEC_000686" "g.144994094G>A" "" "" "" "PLEC(NM_000445.3):c.9976C>T (p.(Arg3326Trp)), PLEC(NM_201380.4):c.10306C>T (p.R3436W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929420" "0" "50" "8" "144995359" "144995359" "subst" "6.90625E-5" "02325" "PLEC_000446" "g.144995359G>A" "" "" "" "PLEC(NM_000445.3):c.8711C>T (p.(Thr2904Met)), PLEC(NM_000445.5):c.8711C>T (p.T2904M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929421" "0" "30" "8" "144995480" "144995480" "subst" "0.00158488" "02326" "PLEC_000079" "g.144995480C>T" "" "" "" "PLEC(NM_000445.3):c.8590G>A (p.(Glu2864Lys)), PLEC(NM_201380.3):c.8920G>A (p.E2974K), PLEC(NM_201380.4):c.8920G>A (p.E2974K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000933952" "0" "90" "8" "144992096" "144992096" "subst" "0" "00006" "PLEC_000744" "g.144992096C>A" "" "{PMID:Tavakoli 2023:37350320}" "" "" "carrier PLEC variant" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000933953" "0" "70" "8" "144992096" "144992096" "subst" "0" "00006" "PLEC_000744" "g.144992096C>A" "" "{PMID:Tavakoli 2023:37350320}" "" "" "carrier" "Germline/De novo (untested)" "" "" "0" "" "" "g.143917928C>A" "" "likely pathogenic" "" "0000936175" "1" "50" "8" "144991259" "144991259" "subst" "5.74453E-5" "00006" "PLEC_000739" "g.144991259G>A" "" "{PMID:Cavdarli 2023:36575883}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.143917091G>A" "" "VUS" "" "0000936177" "3" "50" "8" "144991115" "144991115" "subst" "0" "00006" "PLEC_000738" "g.144991115C>A" "" "{PMID:Cavdarli 2023:36575883}" "" "" "" "Germline" "" "" "0" "" "" "g.143916947C>A" "" "VUS" "" "0000946017" "1" "90" "8" "144992567" "144992567" "subst" "0" "00006" "PLEC_000046" "g.144992567C>T" "" "{PMID:Westra 2019:31127727}" "" "NM_201380.3:c.11833G>A (Gly3945Ser)" "" "Germline" "" "" "0" "" "" "g.143918399C>T" "" "pathogenic (recessive)" "" "0000946165" "2" "90" "8" "145000028" "145000028" "del" "0" "00006" "PLEC_000244" "g.145000028del" "" "{PMID:Westra 2019:31127727}" "" "NM_201380.3:c.4480del (Glu1494fs)" "" "Germline" "" "" "0" "" "" "g.143925860del" "" "pathogenic (recessive)" "" "0000949033" "0" "50" "8" "144991559" "144991559" "subst" "1.2232E-5" "01804" "PLEC_000745" "g.144991559C>T" "" "" "" "PLEC(NM_000445.3):c.12511G>A (p.(Val4171Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949034" "0" "30" "8" "144993438" "144993438" "subst" "0.000394005" "02326" "PLEC_000746" "g.144993438C>T" "" "" "" "PLEC(NM_201380.4):c.10962G>A (p.T3654=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949035" "0" "50" "8" "144997681" "144997681" "subst" "0.000130081" "02325" "PLEC_000113" "g.144997681C>T" "" "" "" "PLEC(NM_000445.5):c.6497G>A (p.R2166H), PLEC(NM_201380.3):c.6827G>A (p.R2276H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949036" "0" "50" "8" "144998096" "144998096" "subst" "3.73807E-5" "02325" "PLEC_000472" "g.144998096C>T" "" "" "" "PLEC(NM_000445.5):c.6082G>A (p.A2028T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949037" "0" "30" "8" "144998442" "144998442" "subst" "2.7371E-5" "01804" "PLEC_000747" "g.144998442C>T" "" "" "" "PLEC(NM_000445.3):c.5736G>A (p.(Ala1912=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949038" "0" "30" "8" "144999243" "144999243" "subst" "0.00115486" "02326" "PLEC_000748" "g.144999243G>A" "" "" "" "PLEC(NM_201380.4):c.5265C>T (p.A1755=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949039" "0" "30" "8" "145004474" "145004474" "subst" "0.00125325" "02326" "PLEC_000189" "g.145004474G>A" "" "" "" "PLEC(NM_000445.3):c.2539-8C>T (p.(=)), PLEC(NM_201380.4):c.2869-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949040" "0" "30" "8" "145007069" "145007069" "subst" "0.00110023" "02326" "PLEC_000557" "g.145007069C>A" "" "" "" "PLEC(NM_000445.3):c.1710G>T (p.(Glu570Asp)), PLEC(NM_201380.4):c.2040G>T (p.E680D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949041" "0" "30" "8" "145007355" "145007355" "subst" "0" "02326" "PLEC_000519" "g.145007355C>G" "" "" "" "PLEC(NM_000445.3):c.1499+10G>C (p.(=)), PLEC(NM_201380.3):c.1829+10G>C, PLEC(NM_201380.4):c.1829+10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949042" "0" "30" "8" "145007499" "145007499" "subst" "0.000408047" "02326" "PLEC_000749" "g.145007499T>C" "" "" "" "PLEC(NM_201380.4):c.1695A>G (p.A565=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949043" "0" "90" "8" "145013584" "145013584" "subst" "4.11282E-6" "02325" "PLEC_000750" "g.145013584G>A" "" "" "" "PLEC(NM_000445.5):c.194-724C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000949044" "0" "30" "8" "145024570" "145024570" "subst" "0.00246078" "02326" "PLEC_000751" "g.145024570C>T" "" "" "" "PLEC(NM_201380.2):c.305G>A (p.(Arg102His)), PLEC(NM_201380.4):c.305G>A (p.R102H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000957830" "0" "70" "8" "144998035" "144998035" "subst" "0.000320779" "00006" "PLEC_000471" "g.144998035G>A" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.143923867G>A" "" "VUS" "" "0000957917" "0" "50" "8" "145016631" "145016631" "subst" "5.53899E-5" "00006" "PLEC_000752" "g.145016631C>T" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "PLEC R18Q" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.143942463C>T" "" "VUS" "" "0000964863" "0" "30" "8" "144993258" "144993258" "subst" "8.65031E-5" "01804" "PLEC_000753" "g.144993258G>A" "" "" "" "PLEC(NM_000445.3):c.10812C>T (p.(Gly3604=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964870" "0" "30" "8" "144994908" "144994908" "subst" "0.000913141" "02326" "PLEC_000440" "g.144994908C>T" "" "" "" "PLEC(NM_000445.3):c.9162G>A (p.(Ala3054=)), PLEC(NM_201380.3):c.9492G>A (p.A3164=), PLEC(NM_201380.4):c.9492G>A (p.A3164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964872" "0" "50" "8" "144995815" "144995815" "subst" "2.46002E-5" "02325" "PLEC_000755" "g.144995815G>A" "" "" "" "PLEC(NM_000445.5):c.8255C>T (p.T2752M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964875" "0" "50" "8" "144996313" "144996313" "subst" "0" "02325" "PLEC_000756" "g.144996313T>C" "" "" "" "PLEC(NM_000445.5):c.7757A>G (p.Q2586R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964877" "0" "90" "8" "144996803" "144996803" "subst" "0" "02325" "PLEC_000757" "g.144996803G>A" "" "" "" "PLEC(NM_000445.5):c.7375C>T (p.Q2459*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000964881" "0" "30" "8" "144997671" "144997671" "subst" "0.000627453" "02326" "PLEC_000112" "g.144997671G>A" "" "" "" "PLEC(NM_201380.3):c.6837C>T (p.A2279=), PLEC(NM_201380.4):c.6837C>T (p.A2279=), PLEC(NM_201384.3):c.6426C>T (p.(Ala2142=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964890" "0" "50" "8" "144998941" "144998941" "subst" "0.000103869" "02325" "PLEC_000758" "g.144998941C>T" "" "" "" "PLEC(NM_000445.5):c.5237G>A (p.R1746Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964895" "0" "30" "8" "145003360" "145003360" "subst" "0.00155999" "01804" "PLEC_000503" "g.145003360C>T" "" "" "" "PLEC(NM_000445.3):c.3252G>A (p.(Ser1084=)), PLEC(NM_201380.4):c.3582G>A (p.S1194=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964897" "0" "30" "8" "145003759" "145003759" "subst" "0.000121955" "02326" "PLEC_000760" "g.145003759C>T" "" "" "" "PLEC(NM_201380.4):c.3335-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964898" "0" "30" "8" "145003962" "145003962" "subst" "0.000782665" "02326" "PLEC_000761" "g.145003962G>A" "" "" "" "PLEC(NM_201380.4):c.3186C>T (p.A1062=), PLEC(NM_201384.3):c.2775C>T (p.(Ala925=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964899" "0" "30" "8" "145004383" "145004383" "subst" "0.000196271" "01804" "PLEC_000762" "g.145004383G>A" "" "" "" "PLEC(NM_000445.3):c.2622C>T (p.(Ser874=)), PLEC(NM_201380.4):c.2952C>T (p.S984=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964900" "0" "30" "8" "145004383" "145004383" "subst" "0.000196271" "02326" "PLEC_000762" "g.145004383G>A" "" "" "" "PLEC(NM_000445.3):c.2622C>T (p.(Ser874=)), PLEC(NM_201380.4):c.2952C>T (p.S984=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964901" "0" "30" "8" "145006220" "145006220" "subst" "0.0016448" "02326" "PLEC_000763" "g.145006220G>A" "" "" "" "PLEC(NM_201380.4):c.2494-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964904" "0" "30" "8" "145016657" "145016657" "subst" "0.00359629" "02326" "PLEC_000222" "g.145016657G>C" "" "" "" "PLEC(NM_201383.1):c.27C>G (p.(Ala9=)), PLEC(NM_201383.3):c.27C>G (p.A9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964906" "0" "30" "8" "145024628" "145024628" "subst" "0.000631586" "02326" "PLEC_000764" "g.145024628G>A" "" "" "" "PLEC(NM_201380.4):c.247C>T (p.R83C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978077" "0" "50" "8" "144991772" "144991772" "subst" "1.62526E-5" "01804" "PLEC_000765" "g.144991772C>T" "" "" "" "PLEC(NM_201384.1):c.12217G>A (p.(Asp4073Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978078" "0" "50" "8" "144991802" "144991802" "subst" "6.0983E-5" "01804" "PLEC_000407" "g.144991802C>T" "" "" "" "PLEC(NM_201380.3):c.12598G>A (p.V4200M), PLEC(NM_201384.3):c.12187G>A (p.(Val4063Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978079" "0" "50" "8" "144991868" "144991868" "subst" "0" "01804" "PLEC_000766" "g.144991868G>A" "" "" "" "PLEC(NM_201384.3):c.12121C>T (p.(Arg4041Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978080" "0" "50" "8" "144992624" "144992624" "subst" "5.88928E-5" "01804" "PLEC_000767" "g.144992624C>T" "" "" "" "PLEC(NM_201384.3):c.11365G>A (p.(Glu3789Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978081" "0" "50" "8" "144992711" "144992711" "subst" "3.82835E-5" "01804" "PLEC_000768" "g.144992711G>A" "" "" "" "PLEC(NM_201384.3):c.11278C>T (p.(Arg3760Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978082" "0" "50" "8" "144992770" "144992770" "subst" "0" "01804" "PLEC_000769" "g.144992770T>C" "" "" "" "PLEC(NM_201384.3):c.11219A>G (p.(Glu3740Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978083" "0" "50" "8" "144992912" "144992912" "subst" "0.000192786" "01804" "PLEC_000261" "g.144992912C>T" "" "" "" "PLEC(NM_201380.3):c.11488G>A (p.A3830T), PLEC(NM_201380.4):c.11488G>A (p.A3830T), PLEC(NM_201384.3):c.11077G>A (p.(Ala3693Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978084" "0" "50" "8" "144992968" "144992968" "subst" "4.90641E-5" "01804" "PLEC_000770" "g.144992968C>T" "" "" "" "PLEC(NM_201384.3):c.11021G>A (p.(Arg3674His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978085" "0" "50" "8" "144993058" "144993058" "subst" "5.33416E-5" "01804" "PLEC_000771" "g.144993058C>T" "" "" "" "PLEC(NM_201384.3):c.10931G>A (p.(Arg3644His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978086" "0" "50" "8" "144994136" "144994136" "subst" "0" "01804" "PLEC_000772" "g.144994136T>A" "" "" "" "PLEC(NM_201384.3):c.9853A>T (p.(Ile3285Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978087" "0" "50" "8" "144994385" "144994385" "subst" "7.95032E-5" "01804" "PLEC_000773" "g.144994385C>T" "" "" "" "PLEC(NM_201384.3):c.9604G>A (p.(Asp3202Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978088" "0" "10" "8" "144994566" "144994566" "subst" "0.0100963" "01804" "PLEC_000774" "g.144994566G>A" "" "" "" "PLEC(NM_000445.3):c.9504C>T (p.(Gly3168=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000978089" "0" "50" "8" "144994822" "144994822" "subst" "2.98118E-5" "01804" "PLEC_000775" "g.144994822G>T" "" "" "" "PLEC(NM_201384.3):c.9167C>A (p.(Ala3056Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978090" "0" "50" "8" "144994904" "144994904" "subst" "2.56281E-5" "01804" "PLEC_000776" "g.144994904C>T" "" "" "" "PLEC(NM_201384.3):c.9085G>A (p.(Val3029Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978091" "0" "50" "8" "144995519" "144995519" "subst" "4.48577E-5" "01804" "PLEC_000449" "g.144995519C>T" "" "" "" "PLEC(NM_201380.3):c.8881G>A (p.V2961M), PLEC(NM_201384.1):c.8470G>A (p.(Val2824Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978092" "0" "50" "8" "144996977" "144996977" "subst" "0" "01804" "PLEC_000777" "g.144996977G>A" "" "" "" "PLEC(NM_201384.3):c.7120C>T (p.(Arg2374Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978093" "0" "50" "8" "144997230" "144997230" "subst" "8.35478E-6" "01804" "PLEC_000778" "g.144997230C>G" "" "" "" "PLEC(NM_201384.3):c.6867G>C (p.(Glu2289Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978094" "0" "50" "8" "144997435" "144997435" "subst" "5.0344E-5" "01804" "PLEC_000779" "g.144997435C>T" "" "" "" "PLEC(NM_201384.3):c.6662G>A (p.(Arg2221His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978095" "0" "50" "8" "144998149" "144998149" "subst" "0.000327195" "02325" "PLEC_000655" "g.144998149C>T" "" "" "" "PLEC(NM_000445.5):c.6029G>A (p.R2010H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978096" "0" "50" "8" "144998335" "144998335" "subst" "3.06732E-5" "01804" "PLEC_000780" "g.144998335C>T" "" "" "" "PLEC(NM_000445.3):c.5843G>A (p.(Arg1948Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978097" "0" "50" "8" "144998707" "144998707" "subst" "0.000147586" "02325" "PLEC_000285" "g.144998707C>T" "" "" "" "PLEC(NM_000445.5):c.5471G>A (p.R1824H), PLEC(NM_201384.3):c.5390G>A (p.(Arg1797His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978098" "0" "50" "8" "144999044" "144999044" "subst" "0" "01804" "PLEC_000781" "g.144999044G>A" "" "" "" "PLEC(NM_201384.3):c.5053C>T (p.(Arg1685Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978099" "0" "30" "8" "144999264" "144999264" "subst" "0.000212568" "02326" "PLEC_000486" "g.144999264C>T" "" "" "" "PLEC(NM_201380.4):c.5244G>A (p.E1748=), PLEC(NM_201384.3):c.4833G>A (p.(Glu1611=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978100" "0" "50" "8" "144999529" "144999529" "subst" "0" "02325" "PLEC_000782" "g.144999529G>A" "" "" "" "PLEC(NM_000445.5):c.4649C>T (p.A1550V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978101" "0" "10" "8" "145001221" "145001221" "subst" "0.00302248" "02326" "PLEC_000168" "g.145001221T>C" "" "" "" "PLEC(NM_201380.4):c.4280A>G (p.K1427R), PLEC(NM_201384.3):c.3869A>G (p.(Lys1290Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000978102" "0" "50" "8" "145004575" "145004575" "subst" "7.37924E-5" "01804" "PLEC_000783" "g.145004575C>G" "" "" "" "PLEC(NM_201384.3):c.2434G>C (p.(Val812Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978103" "0" "50" "8" "145004599" "145004599" "subst" "0.000212925" "01804" "PLEC_000784" "g.145004599G>A" "" "" "" "PLEC(NM_201384.3):c.2410C>T (p.(Arg804Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978104" "0" "50" "8" "145006118" "145006118" "subst" "0.000148756" "01804" "PLEC_000197" "g.145006118G>A" "" "" "" "PLEC(NM_201380.3):c.2576C>T (p.A859V), PLEC(NM_201384.3):c.2165C>T (p.(Ala722Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978105" "0" "50" "8" "145006356" "145006356" "subst" "0.000104314" "01804" "PLEC_000785" "g.145006356A>G" "" "" "" "PLEC(NM_201384.3):c.2024T>C (p.(Leu675Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978106" "0" "50" "8" "145006644" "145006644" "subst" "6.25354E-5" "01804" "PLEC_000786" "g.145006644T>C" "" "" "" "PLEC(NM_201384.3):c.1901A>G (p.(Glu634Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978107" "0" "50" "8" "145006859" "145006859" "subst" "5.28355E-5" "02325" "PLEC_000661" "g.145006859G>A" "" "" "" "PLEC(NM_000445.5):c.1840C>T (p.R614W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978108" "0" "50" "8" "145007375" "145007375" "subst" "3.26899E-5" "01804" "PLEC_000787" "g.145007375T>C" "" "" "" "PLEC(NM_201384.3):c.1408A>G (p.(Met470Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978109" "0" "30" "8" "145008497" "145008497" "subst" "0.00107236" "01804" "PLEC_000211" "g.145008497G>C" "" "" "" "PLEC(NM_201380.4):c.1569C>G (p.S523R), PLEC(NM_201384.3):c.1158C>G (p.(Ser386Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978110" "0" "30" "8" "145009211" "145009211" "subst" "2.85432E-5" "01804" "PLEC_000788" "g.145009211C>T" "" "" "" "PLEC(NM_201384.1):c.793G>A (p.(Val265Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978111" "0" "30" "8" "145017937" "145017937" "subst" "5.97958E-5" "01804" "PLEC_000789" "g.145017937C>T" "" "" "" "PLEC(NM_201382.4):c.112+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978112" "0" "50" "8" "145018138" "145018138" "subst" "0" "01804" "PLEC_000790" "g.145018138G>A" "" "" "" "PLEC(NM_201382.4):c.-80C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978113" "0" "50" "8" "145024547" "145024547" "subst" "0" "01804" "PLEC_000791" "g.145024547C>A" "" "" "" "PLEC(NM_201380.4):c.328G>T (p.(Ala110Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978114" "0" "30" "8" "145024570" "145024570" "subst" "0.000537462" "02326" "PLEC_000539" "g.145024570C>A" "" "" "" "PLEC(NM_201380.2):c.305G>T (p.(Arg102Leu)), PLEC(NM_201380.3):c.305G>T (p.R102L), PLEC(NM_201380.4):c.305G>T (p.R102L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978115" "0" "50" "8" "145024579" "145024579" "subst" "4.35309E-5" "01804" "PLEC_000792" "g.145024579C>T" "" "" "" "PLEC(NM_201380.4):c.296G>A (p.(Arg99His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978116" "0" "50" "8" "145024703" "145024703" "subst" "5.63742E-5" "01804" "PLEC_000793" "g.145024703G>A" "" "" "" "PLEC(NM_201380.4):c.172C>T (p.(Arg58Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996999" "0" "50" "8" "144990407" "144990407" "subst" "3.6397E-5" "01804" "PLEC_000794" "g.144990407C>T" "" "" "" "PLEC(NM_201384.1):c.13582G>A (p.(Gly4528Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997000" "0" "30" "8" "144991113" "144991113" "subst" "0.000323898" "02326" "PLEC_000795" "g.144991113C>T" "" "" "" "PLEC(NM_201380.4):c.13287G>A (p.V4429=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997001" "0" "50" "8" "144992077" "144992077" "subst" "0" "01804" "PLEC_000796" "g.144992077G>A" "" "" "" "PLEC(NM_201384.1):c.11912C>T (p.(Ala3971Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997002" "0" "30" "8" "144992450" "144992450" "subst" "0.000131949" "01804" "PLEC_000797" "g.144992450C>T" "" "" "" "PLEC(NM_201384.1):c.11539G>A (p.(Val3847Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997003" "0" "50" "8" "144993491" "144993491" "subst" "0.000621623" "01804" "PLEC_000798" "g.144993491G>A" "" "" "" "PLEC(NM_201384.1):c.10498C>T (p.(Arg3500Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997004" "0" "50" "8" "144993860" "144993860" "subst" "1.69617E-5" "01804" "PLEC_000799" "g.144993860G>A" "" "" "" "PLEC(NM_201384.1):c.10129C>T (p.(Arg3377Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997005" "0" "50" "8" "144994198" "144994198" "subst" "9.35789E-5" "01804" "PLEC_000800" "g.144994198G>A" "" "" "" "PLEC(NM_201384.1):c.9791C>T (p.(Ala3264Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997006" "0" "30" "8" "144994826" "144994826" "subst" "0" "01804" "PLEC_000589" "g.144994826C>T" "" "" "" "PLEC(NM_201380.3):c.9574G>A (p.V3192M), PLEC(NM_201384.1):c.9163G>A (p.(Val3055Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997007" "0" "30" "8" "144995008" "144995008" "subst" "0.000132033" "01804" "PLEC_000801" "g.144995008C>T" "" "" "" "PLEC(NM_201384.1):c.8981G>A (p.(Arg2994His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997008" "0" "50" "8" "144995044" "144995044" "subst" "0" "01804" "PLEC_000802" "g.144995044G>C" "" "" "" "PLEC(NM_201384.1):c.8945C>G (p.(Pro2982Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997009" "0" "50" "8" "144995188" "144995188" "subst" "4.4773E-5" "01804" "PLEC_000330" "g.144995188G>A" "" "" "" "PLEC(NM_201384.1):c.8801C>T (p.(Thr2934Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997010" "0" "30" "8" "144995372" "144995372" "subst" "8.52979E-5" "01804" "PLEC_000632" "g.144995372C>T" "" "" "" "PLEC(NM_201380.3):c.9028G>A (p.E3010K), PLEC(NM_201384.1):c.8617G>A (p.(Glu2873Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997011" "0" "50" "8" "144995478" "144995480" "del" "0" "01804" "PLEC_000332" "g.144995478_144995480del" "" "" "" "PLEC(NM_201384.1):c.8512_8514delGAG (p.(Glu2838del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997012" "0" "50" "8" "144995722" "144995722" "subst" "0" "01804" "PLEC_000803" "g.144995722T>C" "" "" "" "PLEC(NM_201384.1):c.8267A>G (p.(Glu2756Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997013" "0" "30" "8" "144995762" "144995762" "subst" "6.55448E-5" "01804" "PLEC_000804" "g.144995762C>T" "" "" "" "PLEC(NM_201384.1):c.8227G>A (p.(Val2743Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997014" "0" "30" "8" "144996159" "144996159" "subst" "0.000274392" "01804" "PLEC_000095" "g.144996159C>T" "" "" "" "PLEC(NM_000445.3):c.7911G>A (p.(Ala2637=)), PLEC(NM_201380.4):c.8241G>A (p.A2747=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997015" "0" "50" "8" "144996166" "144996166" "subst" "0.00038347" "01804" "PLEC_000805" "g.144996166G>A" "" "" "" "PLEC(NM_201384.1):c.7823C>T (p.(Ala2608Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997016" "0" "30" "8" "144996556" "144996556" "subst" "8.51869E-6" "01804" "PLEC_000806" "g.144996556G>A" "" "" "" "PLEC(NM_201384.1):c.7433C>T (p.(Thr2478Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997017" "0" "50" "8" "144996727" "144996727" "subst" "9.8125E-5" "01804" "PLEC_000807" "g.144996727C>T" "" "" "" "PLEC(NM_201384.1):c.7370G>A (p.(Arg2457His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997018" "0" "50" "8" "144996905" "144996905" "subst" "0.000166475" "01804" "PLEC_000692" "g.144996905G>A" "" "" "" "PLEC(NM_201384.1):c.7192C>T (p.(Arg2398Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997019" "0" "50" "8" "144997252" "144997252" "subst" "3.76553E-5" "01804" "PLEC_000808" "g.144997252C>T" "" "" "" "PLEC(NM_201384.1):c.6845G>A (p.(Arg2282Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997020" "0" "50" "8" "144997679" "144997679" "subst" "8.95512E-6" "01804" "PLEC_000809" "g.144997679T>C" "" "" "" "PLEC(NM_201384.1):c.6418A>G (p.(Lys2140Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997021" "0" "50" "8" "144997714" "144997714" "subst" "9.49444E-5" "01804" "PLEC_000810" "g.144997714C>T" "" "" "" "PLEC(NM_201384.1):c.6383G>A (p.(Arg2128Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997022" "0" "30" "8" "144997721" "144997721" "subst" "2.70971E-5" "01804" "PLEC_000811" "g.144997721G>C" "" "" "" "PLEC(NM_201384.1):c.6376C>G (p.(Gln2126Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997023" "0" "10" "8" "144998385" "144998385" "subst" "0.00093591" "02326" "PLEC_000812" "g.144998385G>A" "" "" "" "PLEC(NM_201380.4):c.6123C>T (p.S2041=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000997024" "0" "30" "8" "144998451" "144998451" "subst" "0" "01804" "PLEC_000813" "g.144998451C>G" "" "" "" "PLEC(NM_201384.1):c.5646G>C (p.(Glu1882Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997025" "0" "50" "8" "144998491" "144998517" "del" "0" "01804" "PLEC_000814" "g.144998491_144998517del" "" "" "" "PLEC(NM_201384.1):c.5587_5613delAACGAGCGCCTGCGGCGGCTGGCGGAG (p.(Asn1863_Glu1871del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997026" "0" "30" "8" "144998706" "144998706" "subst" "0.0015747" "02326" "PLEC_000479" "g.144998706G>A" "" "" "" "PLEC(NM_000445.3):c.5472C>T (p.(Arg1824=)), PLEC(NM_201380.4):c.5802C>T (p.R1934=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997027" "0" "30" "8" "144998932" "144998932" "subst" "0.000870579" "01804" "PLEC_000815" "g.144998932G>A" "" "" "" "PLEC(NM_000445.3):c.5246C>T (p.(Thr1749Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997028" "0" "50" "8" "144999005" "144999005" "subst" "3.32049E-5" "01804" "PLEC_000816" "g.144999005G>A" "" "" "" "PLEC(NM_000445.3):c.5173C>T (p.(Arg1725Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997029" "0" "50" "8" "144999043" "144999043" "subst" "3.9223E-5" "01804" "PLEC_000817" "g.144999043C>T" "" "" "" "PLEC(NM_201384.1):c.5054G>A (p.(Arg1685Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997030" "0" "30" "8" "144999094" "144999094" "subst" "4.61066E-5" "01804" "PLEC_000698" "g.144999094T>G" "" "" "" "PLEC(NM_201380.3):c.5414A>C (p.E1805A), PLEC(NM_201384.1):c.5003A>C (p.(Glu1668Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997031" "0" "50" "8" "144999331" "144999331" "subst" "0" "01804" "PLEC_000818" "g.144999331G>A" "" "" "" "PLEC(NM_201384.1):c.4766C>T (p.(Thr1589Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997032" "0" "50" "8" "144999454" "144999454" "subst" "3.25645E-5" "01804" "PLEC_000819" "g.144999454G>A" "" "" "" "PLEC(NM_201384.1):c.4643C>T (p.(Ala1548Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997033" "0" "50" "8" "144999622" "144999622" "subst" "0" "01804" "PLEC_000820" "g.144999622G>T" "" "" "" "PLEC(NM_201384.1):c.4475C>A (p.(Ala1492Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997034" "0" "30" "8" "145001482" "145001482" "subst" "0.00050627" "02326" "PLEC_000290" "g.145001482G>C" "" "" "" "PLEC(NM_201380.4):c.4189C>G (p.R1397G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997035" "0" "30" "8" "145001589" "145001589" "subst" "0.000502223" "02326" "PLEC_000173" "g.145001589G>T" "" "" "" "PLEC(NM_201380.4):c.4156C>A (p.R1386=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997036" "0" "90" "8" "145003587" "145003587" "subst" "0" "01804" "PLEC_000821" "g.145003587G>A" "" "" "" "PLEC(NM_201384.1):c.3076C>T (p.(Gln1026*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000997037" "0" "50" "8" "145003634" "145003639" "dup" "0" "01804" "PLEC_000504" "g.145003634_145003639dup" "" "" "" "PLEC(NM_201380.3):c.3439_3444dupCCGCTG (p.P1147_L1148dup), PLEC(NM_201380.4):c.3431_3436dupCCGCTG (p.P1147_L1148dup), PLEC(NM_201384.1):c.3028_3033..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997038" "0" "50" "8" "145003653" "145003653" "subst" "0.000128101" "01804" "PLEC_000374" "g.145003653C>T" "" "" "" "PLEC(NM_201384.1):c.3010G>A (p.(Val1004Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997039" "0" "50" "8" "145006681" "145006681" "subst" "8.36127E-6" "01804" "PLEC_000199" "g.145006681C>A" "" "" "" "PLEC(NM_201380.3):c.2275G>T (p.V759L), PLEC(NM_201384.1):c.1864G>T (p.(Val622Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997040" "0" "70" "8" "145007131" "145007131" "subst" "8.23079E-6" "01804" "PLEC_000204" "g.145007131G>A" "" "" "" "PLEC(NM_201380.3):c.1978C>T (p.R660C), PLEC(NM_201384.1):c.1567C>T (p.(Arg523Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000997041" "0" "50" "8" "145007272" "145007272" "subst" "0" "01804" "PLEC_000822" "g.145007272G>A" "" "" "" "PLEC(NM_201384.1):c.1426C>T (p.(Arg476Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997042" "0" "30" "8" "145009069" "145009069" "subst" "0.00100294" "01804" "PLEC_000823" "g.145009069C>T" "" "" "" "PLEC(NM_000445.3):c.935G>A (p.(Arg312Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997043" "0" "30" "8" "145009999" "145009999" "subst" "0.000103083" "02326" "PLEC_000824" "g.145009999C>T" "" "" "" "PLEC(NM_201380.4):c.1013+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997044" "0" "50" "8" "145010083" "145010083" "subst" "0" "01804" "PLEC_000716" "g.145010083G>A" "" "" "" "PLEC(NM_201384.1):c.535C>T (p.(Arg179*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997045" "0" "50" "8" "145016578" "145016578" "subst" "0" "01804" "PLEC_000825" "g.145016578G>T" "" "" "" "PLEC(NM_201383.1):c.106C>A (p.(Gln36Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997046" "0" "50" "8" "145024571" "145024571" "subst" "5.7543E-5" "01804" "PLEC_000826" "g.145024571G>A" "" "" "" "PLEC(NM_201380.2):c.304C>T (p.(Arg102Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001008319" "1" "90" "8" "0" "0" "" "" "00006" "RP1_000000" "g.?" "" "{PMID:Xie 2024:39198981}" "" "c.13192G>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" "" "0001008320" "1" "90" "8" "0" "0" "" "" "00006" "RP1_000000" "g.?" "" "{PMID:Xie 2024:39198981}" "" "c.9940T>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" "" "0001008347" "2" "90" "8" "0" "0" "" "" "00006" "RP1_000000" "g.?" "" "{PMID:Xie 2024:39198981}" "" "c.6428C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" "" "0001008348" "2" "90" "8" "0" "0" "" "" "00006" "RP1_000000" "g.?" "" "{PMID:Xie 2024:39198981}" "" "c.5995C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" "" "0001014414" "0" "50" "8" "144990415" "144990415" "subst" "0.000354441" "02325" "PLEC_000827" "g.144990415G>A" "" "" "" "PLEC(NM_000445.5):c.13655C>T (p.S4552L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014415" "0" "50" "8" "144990742" "144990742" "subst" "0.00021531" "02325" "PLEC_000828" "g.144990742G>A" "" "" "" "PLEC(NM_000445.5):c.13328C>T (p.T4443M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014416" "0" "50" "8" "144991003" "144991003" "subst" "2.85365E-5" "02325" "PLEC_000829" "g.144991003C>T" "" "" "" "PLEC(NM_000445.5):c.13067G>A (p.R4356H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014417" "0" "30" "8" "144991995" "144991995" "subst" "0.00253417" "02326" "PLEC_000254" "g.144991995G>A" "" "" "" "PLEC(NM_000445.3):c.12075C>T (p.(Pro4025=)), PLEC(NM_201380.3):c.12405C>T (p.P4135=), PLEC(NM_201380.4):c.12405C>T (p.P4135=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014418" "0" "30" "8" "144993351" "144993351" "subst" "2.84594E-5" "01804" "PLEC_000830" "g.144993351C>T" "" "" "" "PLEC(NM_000445.3):c.10719G>A (p.(Ala3573=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014419" "0" "50" "8" "144994190" "144994190" "subst" "0" "01804" "PLEC_000831" "g.144994190G>A" "" "" "" "PLEC(NM_000445.3):c.9880C>T (p.(Arg3294Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014420" "0" "50" "8" "144994583" "144994583" "subst" "3.09152E-5" "02325" "PLEC_000832" "g.144994583C>T" "" "" "" "PLEC(NM_000445.5):c.9487G>A (p.A3163T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014421" "0" "30" "8" "144997503" "144997503" "subst" "0.00130853" "02326" "PLEC_000108" "g.144997503G>A" "" "" "" "PLEC(NM_000445.3):c.6675C>T (p.(Thr2225=)), PLEC(NM_201380.3):c.7005C>T (p.T2335=), PLEC(NM_201380.4):c.7005C>T (p.T2335=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014422" "0" "50" "8" "145001227" "145001227" "subst" "0.000106663" "02325" "PLEC_000497" "g.145001227G>A" "" "" "" "PLEC(NM_000445.5):c.3944C>T (p.T1315M), PLEC(NM_201380.3):c.4274C>T (p.T1425M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014423" "0" "50" "8" "145003686" "145003686" "subst" "2.50834E-5" "02325" "PLEC_000833" "g.145003686G>A" "" "" "" "PLEC(NM_000445.5):c.3058C>T (p.R1020W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025490" "0" "30" "8" "144994656" "144994656" "subst" "0.00208927" "01804" "PLEC_000272" "g.144994656C>T" "" "" "" "PLEC(NM_000445.3):c.9414G>A (p.(Gly3138=)), PLEC(NM_201380.3):c.9744G>A (p.G3248=), PLEC(NM_201380.4):c.9744G>A (p.G3248=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025491" "0" "30" "8" "144999390" "144999390" "subst" "0.000140975" "01804" "PLEC_000834" "g.144999390C>T" "" "" "" "PLEC(NM_000445.3):c.4788G>A (p.(Thr1596=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025492" "0" "30" "8" "144999446" "144999446" "subst" "0.00243784" "02326" "PLEC_000149" "g.144999446G>A" "" "" "" "PLEC(NM_000445.3):c.4732C>T (p.(Arg1578Cys)), PLEC(NM_201380.3):c.5062C>T (p.R1688C), PLEC(NM_201380.4):c.5062C>T (p.R1688C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036787" "0" "50" "8" "144990356" "144990356" "subst" "7.35846E-6" "01804" "PLEC_000835" "g.144990356C>G" "" "" "" "PLEC(NM_201384.3):c.13633G>C (p.(Ala4545Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036788" "0" "50" "8" "144990531" "144990531" "subst" "6.92095E-5" "01804" "PLEC_000836" "g.144990531G>A" "" "" "" "PLEC(NM_201384.3):c.13458C>T (p.(Thr4486=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036789" "0" "50" "8" "144990713" "144990713" "subst" "1.67635E-5" "01804" "PLEC_000837" "g.144990713G>A" "" "" "" "PLEC(NM_201384.3):c.13276C>T (p.(Arg4426Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036790" "0" "50" "8" "144990997" "144990997" "subst" "0.000130327" "01804" "PLEC_000393" "g.144990997G>A" "" "" "" "PLEC(NM_201384.3):c.12992C>T (p.(Pro4331Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036791" "0" "50" "8" "144992024" "144992024" "subst" "1.2205E-5" "01804" "PLEC_000838" "g.144992024C>T" "" "" "" "PLEC(NM_201384.3):c.11965G>A (p.(Glu3989Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036792" "0" "50" "8" "144992486" "144992486" "subst" "0.000315826" "01804" "PLEC_000839" "g.144992486C>T" "" "" "" "PLEC(NM_201384.3):c.11503G>A (p.(Asp3835Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036793" "0" "50" "8" "144992552" "144992552" "subst" "0.000310163" "01804" "PLEC_000840" "g.144992552G>A" "" "" "" "PLEC(NM_201384.3):c.11437C>T (p.(Arg3813Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036794" "0" "50" "8" "144993154" "144993154" "subst" "9.84195E-5" "01804" "PLEC_000841" "g.144993154C>T" "" "" "" "PLEC(NM_201384.3):c.10835G>A (p.(Arg3612Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036795" "0" "50" "8" "144993542" "144993542" "subst" "4.47456E-5" "01804" "PLEC_000842" "g.144993542C>T" "" "" "" "PLEC(NM_201384.3):c.10447G>A (p.(Val3483Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036796" "0" "50" "8" "144993548" "144993548" "subst" "0" "01804" "PLEC_000843" "g.144993548G>T" "" "" "" "PLEC(NM_201384.3):c.10441C>A (p.(His3481Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036797" "0" "30" "8" "144993831" "144993831" "subst" "0.000587004" "01804" "PLEC_000544" "g.144993831C>T" "" "" "" "PLEC(NM_201384.3):c.10158G>A (p.(Ala3386=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036798" "0" "30" "8" "144994413" "144994413" "subst" "6.90684E-5" "01804" "PLEC_000844" "g.144994413G>A" "" "" "" "PLEC(NM_201384.3):c.9576C>T (p.(Tyr3192=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036799" "0" "50" "8" "144994460" "144994460" "subst" "5.88276E-5" "01804" "PLEC_000845" "g.144994460C>T" "" "" "" "PLEC(NM_201384.3):c.9529G>A (p.(Asp3177Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036800" "0" "50" "8" "144995477" "144995477" "subst" "0.000467237" "02325" "PLEC_000846" "g.144995477C>T" "" "" "" "PLEC(NM_000445.5):c.8593G>A (p.E2865K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036801" "0" "50" "8" "144995573" "144995573" "subst" "1.63115E-5" "01804" "PLEC_000847" "g.144995573G>A" "" "" "" "PLEC(NM_201384.3):c.8416C>T (p.(Leu2806=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036802" "0" "30" "8" "144995573" "144995574" "delins" "0" "01804" "PLEC_000848" "g.144995573_144995574delinsAT" "" "" "" "PLEC(NM_201384.3):c.8415_8416delinsAT (p.(Leu2805=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036803" "0" "50" "8" "144995574" "144995574" "subst" "1.63117E-5" "01804" "PLEC_000849" "g.144995574C>T" "" "" "" "PLEC(NM_201384.3):c.8415G>A (p.(Leu2805=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036804" "0" "50" "8" "144996976" "144996976" "subst" "0.000632124" "01804" "PLEC_000338" "g.144996976C>T" "" "" "" "PLEC(NM_000445.3):c.7202G>A (p.(Arg2401Gln)), PLEC(NM_201380.3):c.7532G>A (p.R2511Q), PLEC(NM_201380.4):c.7532G>A (p.R2511Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036805" "0" "50" "8" "144997342" "144997342" "subst" "0" "02325" "PLEC_000104" "g.144997342C>T" "" "" "" "PLEC(NM_000445.5):c.6836G>A (p.R2279H), PLEC(NM_201380.3):c.7166G>A (p.R2389H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036806" "0" "50" "8" "144997603" "144997603" "subst" "3.86369E-5" "01804" "PLEC_000850" "g.144997603G>A" "" "" "" "PLEC(NM_201384.3):c.6494C>T (p.(Ala2165Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036807" "0" "50" "8" "144997642" "144997642" "subst" "7.52665E-5" "02325" "PLEC_000110" "g.144997642G>A" "" "" "" "PLEC(NM_000445.5):c.6536C>T (p.A2179V), PLEC(NM_201380.3):c.6866C>T (p.A2289V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036808" "0" "30" "8" "144997671" "144997671" "subst" "0.000627453" "01804" "PLEC_000112" "g.144997671G>A" "" "" "" "PLEC(NM_201380.3):c.6837C>T (p.A2279=), PLEC(NM_201380.4):c.6837C>T (p.A2279=), PLEC(NM_201384.3):c.6426C>T (p.(Ala2142=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036809" "0" "30" "8" "144997928" "144997928" "subst" "0.000134004" "01804" "PLEC_000851" "g.144997928C>T" "" "" "" "PLEC(NM_201384.3):c.6169G>A (p.(Ala2057Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036810" "0" "50" "8" "144998023" "144998023" "subst" "4.36936E-5" "01804" "PLEC_000852" "g.144998023C>T" "" "" "" "PLEC(NM_201384.3):c.6074G>A (p.(Arg2025Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036811" "0" "50" "8" "144998035" "144998035" "subst" "0.000320779" "01804" "PLEC_000471" "g.144998035G>A" "" "" "" "PLEC(NM_000445.5):c.6143C>T (p.A2048V), PLEC(NM_201380.3):c.6473C>T (p.A2158V), PLEC(NM_201384.3):c.6062C>T (p.(Ala2021Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036812" "0" "30" "8" "144998622" "144998622" "subst" "3.72476E-5" "01804" "PLEC_000853" "g.144998622C>T" "" "" "" "PLEC(NM_201384.3):c.5475G>A (p.(Ala1825=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036813" "0" "50" "8" "144998653" "144998653" "subst" "5.30237E-5" "01804" "PLEC_000477" "g.144998653C>T" "" "" "" "PLEC(NM_201380.3):c.5855G>A (p.R1952Q), PLEC(NM_201384.3):c.5444G>A (p.(Arg1815Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036814" "0" "50" "8" "144998707" "144998707" "subst" "0.000147586" "01804" "PLEC_000285" "g.144998707C>T" "" "" "" "PLEC(NM_000445.5):c.5471G>A (p.R1824H), PLEC(NM_201384.3):c.5390G>A (p.(Arg1797His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036815" "0" "50" "8" "144998764" "144998764" "subst" "4.22648E-5" "01804" "PLEC_000854" "g.144998764G>A" "" "" "" "PLEC(NM_201384.3):c.5333C>T (p.(Ser1778Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036816" "0" "50" "8" "144999049" "144999049" "subst" "0" "01804" "PLEC_000855" "g.144999049G>A" "" "" "" "PLEC(NM_201384.3):c.5048C>T (p.(Ala1683Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036817" "0" "30" "8" "144999090" "144999090" "subst" "3.60639E-5" "01804" "PLEC_000856" "g.144999090C>T" "" "" "" "PLEC(NM_201384.3):c.5007G>A (p.(Ala1669=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036818" "0" "50" "8" "144999382" "144999382" "subst" "8.37084E-5" "01804" "PLEC_000857" "g.144999382C>T" "" "" "" "PLEC(NM_201384.3):c.4715G>A (p.(Arg1572His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036819" "0" "50" "8" "145000005" "145000006" "ins" "0" "01804" "PLEC_000858" "g.145000005_145000006insA" "" "" "" "PLEC(NM_201384.3):c.4091_4092insT (p.(Glu1364Aspfs*81))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036820" "0" "30" "8" "145000017" "145000017" "subst" "1.40109E-5" "01804" "PLEC_000859" "g.145000017C>T" "" "" "" "PLEC(NM_000445.3):c.4161G>A (p.(Glu1387=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036821" "0" "50" "8" "145000968" "145000968" "subst" "0.000113775" "01804" "PLEC_000860" "g.145000968C>T" "" "" "" "PLEC(NM_201384.3):c.4028G>A (p.(Arg1343His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036822" "0" "30" "8" "145001254" "145001254" "subst" "8.24899E-6" "01804" "PLEC_000861" "g.145001254G>A" "" "" "" "PLEC(NM_201384.3):c.3841-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036823" "0" "30" "8" "145001473" "145001473" "subst" "0.000472327" "02326" "PLEC_000658" "g.145001473C>T" "" "" "" "PLEC(NM_201380.4):c.4198G>A (p.E1400K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036824" "0" "50" "8" "145003722" "145003722" "subst" "0" "01804" "PLEC_000862" "g.145003722G>T" "" "" "" "PLEC(NM_201384.3):c.2941C>A (p.(Arg981Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036825" "0" "50" "8" "145003892" "145003892" "subst" "3.58253E-5" "01804" "PLEC_000863" "g.145003892C>T" "" "" "" "PLEC(NM_201384.3):c.2845G>A (p.(Glu949Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036826" "0" "30" "8" "145003962" "145003962" "subst" "0.000782665" "01804" "PLEC_000761" "g.145003962G>A" "" "" "" "PLEC(NM_201380.4):c.3186C>T (p.A1062=), PLEC(NM_201384.3):c.2775C>T (p.(Ala925=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036827" "0" "50" "8" "145003969" "145003969" "subst" "0.000158572" "01804" "PLEC_000185" "g.145003969C>T" "" "" "" "PLEC(NM_201380.3):c.3179G>A (p.R1060H), PLEC(NM_201384.3):c.2768G>A (p.(Arg923His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036828" "0" "50" "8" "145008989" "145008989" "subst" "4.53837E-5" "01804" "PLEC_000864" "g.145008989C>T" "" "" "" "PLEC(NM_201384.3):c.934G>A (p.(Glu312Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036829" "0" "50" "8" "145009401" "145009401" "subst" "4.08153E-6" "01804" "PLEC_000865" "g.145009401C>T" "" "" "" "PLEC(NM_201384.3):c.683G>A (p.(Arg228Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036830" "0" "30" "8" "145009484" "145009484" "subst" "4.27559E-6" "01804" "PLEC_000866" "g.145009484G>A" "" "" "" "PLEC(NM_201384.3):c.603-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036831" "0" "10" "8" "145011216" "145011216" "subst" "1.22096E-5" "01804" "PLEC_000867" "g.145011216A>G" "" "" "" "PLEC(NM_201384.3):c.366T>C (p.(Asn122=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001036832" "0" "30" "8" "145016559" "145016559" "subst" "8.77955E-6" "01804" "PLEC_000868" "g.145016559C>T" "" "" "" "PLEC(NM_201383.1):c.124+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036833" "0" "30" "8" "145017940" "145017940" "subst" "8.48788E-6" "01804" "PLEC_000869" "g.145017940G>A" "" "" "" "PLEC(NM_201382.4):c.112+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036834" "0" "30" "8" "145024570" "145024570" "subst" "0.00246078" "01804" "PLEC_000751" "g.145024570C>T" "" "" "" "PLEC(NM_201380.2):c.305G>A (p.(Arg102His)), PLEC(NM_201380.4):c.305G>A (p.R102H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046145" "0" "50" "8" "144990794" "144990794" "subst" "0" "02325" "PLEC_000870" "g.144990794C>T" "" "" "" "PLEC(NM_000445.5):c.13276G>A (p.E4426K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046146" "0" "50" "8" "144991316" "144991316" "subst" "0" "02325" "PLEC_000871" "g.144991316C>T" "" "" "" "PLEC(NM_000445.5):c.12754G>A (p.G4252S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046147" "0" "50" "8" "144997126" "144997126" "subst" "0.000303413" "02325" "PLEC_000584" "g.144997126C>T" "" "" "" "PLEC(NM_000445.5):c.7052G>A (p.R2351Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046148" "0" "50" "8" "144998132" "144998132" "subst" "0.000177772" "01804" "PLEC_000348" "g.144998132G>A" "" "" "" "PLEC(NM_000445.3):c.6046C>T (p.(Arg2016Cys)), PLEC(NM_201380.3):c.6376C>T (p.R2126C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046149" "0" "30" "8" "144999001" "144999001" "subst" "0" "01804" "PLEC_000872" "g.144999001T>C" "" "" "" "PLEC(NM_000445.3):c.5177A>G (p.(Gln1726Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046150" "0" "10" "8" "144999573" "144999573" "subst" "0.000405159" "02326" "PLEC_000734" "g.144999573C>T" "" "" "" "PLEC(NM_000445.3):c.4605G>A (p.(Gln1535=)), PLEC(NM_201380.4):c.4935G>A (p.Q1645=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001046151" "0" "30" "8" "145001205" "145001205" "subst" "0.00152473" "02326" "PLEC_000167" "g.145001205C>T" "" "" "" "PLEC(NM_000445.3):c.3966G>A (p.(Pro1322=)), PLEC(NM_201380.3):c.4296G>A (p.P1432=), PLEC(NM_201380.4):c.4296G>A (p.P1432=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046152" "0" "50" "8" "145002135" "145002135" "subst" "0.000272081" "02325" "PLEC_000873" "g.145002135G>A" "" "" "" "PLEC(NM_000445.5):c.3367C>T (p.R1123C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046153" "0" "30" "8" "145003360" "145003360" "subst" "0.00155999" "02326" "PLEC_000503" "g.145003360C>T" "" "" "" "PLEC(NM_000445.3):c.3252G>A (p.(Ser1084=)), PLEC(NM_201380.4):c.3582G>A (p.S1194=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046154" "0" "50" "8" "145007459" "145007459" "subst" "0" "02325" "PLEC_000874" "g.145007459A>T" "" "" "" "PLEC(NM_000445.5):c.1405T>A (p.L469M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes PLEC ## Count = 1953 "{{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}}" "0000079365" "00025657" "90" "13292" "0" "13292" "0" "c.13292A>T" "r.(?)" "p.(Tyr4431Phe)" "" "0000079365" "00016320" "00" "13373" "0" "13373" "0" "c.13373A>T" "r.(?)" "p.(Tyr4458Phe)" "" "0000079655" "00025657" "90" "7753" "0" "7753" "0" "c.7753G>C" "r.(?)" "p.(Glu2585Gln)" "" "0000079655" "00016320" "00" "7834" "0" "7834" "0" "c.7834G>C" "r.(?)" "p.(Glu2612Gln)" "" "0000195714" "00016320" "70" "2264" "0" "2266" "0" "c.2264_2266del" "r.(?)" "p.(Phe755del)" "20" "0000195715" "00016320" "70" "9194" "0" "9194" "0" "c.9194dup" "r.(?)" "p.(Ser3066Glufs*55)" "33" "0000239641" "00016320" "90" "5995" "0" "5995" "0" "c.5995C>T" "r.(?)" "p.(Gln1999*)" "32" "0000239642" "00016320" "90" "9940" "0" "9940" "0" "c.(9940T>A)" "r.?" "p.?" "33" "0000246684" "00025657" "10" "13461" "0" "13461" "0" "c.13461T>C" "r.(?)" "p.(Ala4487=)" "" "0000246684" "00016320" "10" "13542" "0" "13542" "0" "c.13542T>C" "r.(?)" "p.(Ala4514=)" "" "0000246685" "00025657" "10" "11127" "0" "11127" "0" "c.11127T>C" "r.(?)" "p.(Ala3709=)" "" "0000246685" "00016320" "10" "11208" "0" "11208" "0" "c.11208T>C" "r.(?)" "p.(Ala3736=)" "" "0000246686" "00025657" "10" "10612" "0" "10612" "0" "c.10612T>C" "r.(?)" "p.(Leu3538=)" "" "0000246686" "00016320" "10" "10693" "0" "10693" "0" "c.10693T>C" "r.(?)" "p.(Leu3565=)" "" "0000246687" "00025657" "10" "4455" "0" "4455" "0" "c.4455T>G" "r.(?)" "p.(Ala1485=)" "" "0000246687" "00016320" "10" "4536" "0" "4536" "0" "c.4536T>G" "r.(?)" "p.(Ala1512=)" "" "0000246688" "00025657" "10" "4413" "0" "4413" "0" "c.4413T>C" "r.(?)" "p.(Ala1471=)" "" "0000246688" "00016320" "10" "4494" "0" "4494" "0" "c.4494T>C" "r.(?)" "p.(Ala1498=)" "" "0000246689" "00025657" "10" "3550" "0" "3550" "0" "c.3550T>C" "r.(?)" "p.(Leu1184=)" "" "0000246689" "00016320" "10" "3631" "0" "3631" "0" "c.3631T>C" "r.(?)" "p.(Leu1211=)" "" "0000246690" "00025657" "10" "1095" "0" "1095" "0" "c.1095T>C" "r.(?)" "p.(Asp365=)" "" "0000246690" "00016320" "10" "1176" "0" "1176" "0" "c.1176T>C" "r.(?)" "p.(Asp392=)" "" "0000246691" "00025657" "10" "378" "0" "378" "0" "c.378T>C" "r.(?)" "p.(Ala126=)" "" "0000246691" "00016320" "10" "459" "0" "459" "0" "c.459T>C" "r.(?)" "p.(Ala153=)" "" "0000246710" "00025657" "10" "7960" "0" "7960" "0" "c.7960T>C" "r.(?)" "p.(Ser2654Pro)" "" "0000246710" "00016320" "10" "8041" "0" "8041" "0" "c.8041T>C" "r.(?)" "p.(Ser2681Pro)" "" "0000248602" "00025657" "10" "378" "0" "378" "0" "c.378T>G" "r.(?)" "p.(Ala126=)" "" "0000248602" "00016320" "10" "459" "0" "459" "0" "c.459T>G" "r.(?)" "p.(Ala153=)" "" "0000252731" "00025657" "50" "1565" "0" "1565" "0" "c.1565T>C" "r.(?)" "p.(Leu522Pro)" "" "0000252731" "00016320" "50" "1646" "0" "1646" "0" "c.1646T>C" "r.(?)" "p.(Leu549Pro)" "" "0000255075" "00025657" "30" "8325" "0" "8325" "0" "c.8325T>C" "r.(?)" "p.(Thr2775=)" "" "0000255075" "00016320" "30" "8406" "0" "8406" "0" "c.8406T>C" "r.(?)" "p.(Thr2802=)" "" "0000255132" "00025657" "30" "10368" "0" "10368" "0" "c.10368T>A" "r.(?)" "p.(Val3456=)" "" "0000255132" "00016320" "30" "10449" "0" "10449" "0" "c.10449T>A" "r.(?)" "p.(Val3483=)" "" "0000293875" "00025657" "10" "13654" "0" "13654" "0" "c.*10C>T" "r.(=)" "p.(=)" "" "0000293875" "00016320" "10" "13735" "0" "13735" "0" "c.*10C>T" "r.(=)" "p.(=)" "" "0000293876" "00025657" "10" "10665" "0" "10665" "0" "c.10665G>A" "r.(?)" "p.(Thr3555=)" "" "0000293876" "00016320" "10" "10746" "0" "10746" "0" "c.10746G>A" "r.(?)" "p.(Thr3582=)" "" "0000293877" "00025657" "30" "718" "10" "718" "10" "c.718+10C>T" "r.(=)" "p.(=)" "" "0000293877" "00016320" "30" "799" "10" "799" "10" "c.799+10C>T" "r.(=)" "p.(=)" "" "0000293878" "00025657" "30" "718" "5" "718" "5" "c.718+5G>A" "r.spl?" "p.?" "" "0000293878" "00016320" "30" "799" "5" "799" "5" "c.799+5G>A" "r.spl?" "p.?" "" "0000293879" "00025657" "10" "10920" "0" "10920" "0" "c.10920C>T" "r.(?)" "p.(Tyr3640=)" "" "0000293879" "00016320" "10" "11001" "0" "11001" "0" "c.11001C>T" "r.(?)" "p.(Tyr3667=)" "" "0000293880" "00025657" "10" "11089" "0" "11089" "0" "c.11089C>T" "r.(?)" "p.(Leu3697=)" "" "0000293880" "00016320" "10" "11170" "0" "11170" "0" "c.11170C>T" "r.(?)" "p.(Leu3724=)" "" "0000293881" "00025657" "10" "11628" "0" "11628" "0" "c.11628A>G" "r.(?)" "p.(Pro3876=)" "" "0000293881" "00016320" "10" "11709" "0" "11709" "0" "c.11709A>G" "r.(?)" "p.(Pro3903=)" "" "0000293882" "00025657" "10" "11886" "0" "11886" "0" "c.11886A>G" "r.(?)" "p.(Thr3962=)" "" "0000293882" "00016320" "10" "11967" "0" "11967" "0" "c.11967A>G" "r.(?)" "p.(Thr3989=)" "" "0000293884" "00025657" "10" "12360" "0" "12360" "0" "c.12360G>A" "r.(?)" "p.(Pro4120=)" "" "0000293884" "00016320" "10" "12441" "0" "12441" "0" "c.12441G>A" "r.(?)" "p.(Pro4147=)" "" "0000293885" "00025657" "10" "12561" "0" "12561" "0" "c.12561C>T" "r.(?)" "p.(Asp4187=)" "" "0000293885" "00016320" "10" "12642" "0" "12642" "0" "c.12642C>T" "r.(?)" "p.(Asp4214=)" "" "0000293886" "00025657" "50" "887" "0" "887" "0" "c.887G>A" "r.(?)" "p.(Arg296Gln)" "" "0000293886" "00016320" "50" "968" "0" "968" "0" "c.968G>A" "r.(?)" "p.(Arg323Gln)" "" "0000293887" "00025657" "10" "12813" "0" "12813" "0" "c.12813A>G" "r.(?)" "p.(Ser4271=)" "" "0000293887" "00016320" "10" "12894" "0" "12894" "0" "c.12894A>G" "r.(?)" "p.(Ser4298=)" "" "0000293888" "00025657" "30" "13205" "0" "13205" "0" "c.13205C>T" "r.(?)" "p.(Thr4402Met)" "" "0000293888" "00016320" "30" "13286" "0" "13286" "0" "c.13286C>T" "r.(?)" "p.(Thr4429Met)" "" "0000293889" "00025657" "10" "1264" "-15" "1264" "-15" "c.1264-15G>A" "r.(=)" "p.(=)" "" "0000293889" "00016320" "10" "1345" "-15" "1345" "-15" "c.1345-15G>A" "r.(=)" "p.(=)" "" "0000293890" "00025657" "10" "1511" "0" "1511" "0" "c.1511C>T" "r.(?)" "p.(Ala504Val)" "" "0000293890" "00016320" "10" "1592" "0" "1592" "0" "c.1592C>T" "r.(?)" "p.(Ala531Val)" "" "0000293891" "00025657" "30" "1706" "0" "1706" "0" "c.1706G>A" "r.(?)" "p.(Arg569Gln)" "" "0000293891" "00016320" "30" "1787" "0" "1787" "0" "c.1787G>A" "r.(?)" "p.(Arg596Gln)" "" "0000293892" "00025657" "10" "1815" "13" "1815" "13" "c.1815+13A>G" "r.(=)" "p.(=)" "" "0000293892" "00016320" "10" "1896" "13" "1896" "13" "c.1896+13A>G" "r.(=)" "p.(=)" "" "0000293894" "00025657" "10" "2457" "6" "2457" "6" "c.2457+6C>T" "r.(=)" "p.(=)" "" "0000293894" "00016320" "10" "2538" "6" "2538" "6" "c.2538+6C>T" "r.(=)" "p.(=)" "" "0000293895" "00025657" "10" "-10949" "0" "-10949" "0" "c.-10949C>T" "r.(?)" "p.(=)" "" "0000293895" "00016320" "10" "194" "-11718" "194" "-11718" "c.194-11718C>T" "r.(=)" "p.(=)" "" "0000293896" "00025657" "10" "3746" "0" "3746" "0" "c.3746G>A" "r.(?)" "p.(Arg1249Gln)" "" "0000293896" "00016320" "10" "3827" "0" "3827" "0" "c.3827G>A" "r.(?)" "p.(Arg1276Gln)" "" "0000293897" "00025657" "10" "3757" "-6" "3757" "-6" "c.3757-6A>G" "r.(=)" "p.(=)" "" "0000293897" "00016320" "10" "3838" "-6" "3838" "-6" "c.3838-6A>G" "r.(=)" "p.(=)" "" "0000293898" "00025657" "10" "3757" "-9" "3757" "-9" "c.3757-9A>G" "r.(=)" "p.(=)" "" "0000293898" "00016320" "10" "3838" "-9" "3838" "-9" "c.3838-9A>G" "r.(=)" "p.(=)" "" "0000293899" "00025657" "10" "3841" "-18" "3841" "-18" "c.3841-18C>T" "r.(=)" "p.(=)" "" "0000293899" "00016320" "10" "3922" "-18" "3922" "-18" "c.3922-18C>T" "r.(=)" "p.(=)" "" "0000293900" "00025657" "10" "3965" "0" "3965" "0" "c.3965A>G" "r.(?)" "p.(His1322Arg)" "" "0000293900" "00016320" "10" "4046" "0" "4046" "0" "c.4046A>G" "r.(?)" "p.(His1349Arg)" "" "0000293901" "00025657" "10" "4045" "-4" "4045" "-4" "c.4045-4A>G" "r.spl?" "p.?" "" "0000293901" "00016320" "10" "4126" "-4" "4126" "-4" "c.4126-4A>G" "r.spl?" "p.?" "" "0000293902" "00025657" "30" "4230" "0" "4230" "0" "c.4230C>T" "r.(?)" "p.(Asp1410=)" "" "0000293902" "00016320" "30" "4311" "0" "4311" "0" "c.4311C>T" "r.(?)" "p.(Asp1437=)" "" "0000293903" "00025657" "10" "4476" "0" "4476" "0" "c.4476G>A" "r.(?)" "p.(Ala1492=)" "" "0000293903" "00016320" "10" "4557" "0" "4557" "0" "c.4557G>A" "r.(?)" "p.(Ala1519=)" "" "0000293904" "00025657" "10" "4680" "0" "4680" "0" "c.4680G>A" "r.(?)" "p.(Ala1560=)" "" "0000293904" "00016320" "10" "4761" "0" "4761" "0" "c.4761G>A" "r.(?)" "p.(Ala1587=)" "" "0000293905" "00025657" "50" "5024" "0" "5024" "0" "c.5024G>A" "r.(?)" "p.(Arg1675Gln)" "" "0000293905" "00016320" "50" "5105" "0" "5105" "0" "c.5105G>A" "r.(?)" "p.(Arg1702Gln)" "" "0000293906" "00025657" "30" "5229" "0" "5229" "0" "c.5229G>A" "r.(?)" "p.(Ala1743=)" "" "0000293906" "00016320" "30" "5310" "0" "5310" "0" "c.5310G>A" "r.(?)" "p.(Ala1770=)" "" "0000293907" "00025657" "30" "5583" "0" "5583" "0" "c.5583G>A" "r.(?)" "p.(Ala1861=)" "" "0000293907" "00016320" "30" "5664" "0" "5664" "0" "c.5664G>A" "r.(?)" "p.(Ala1888=)" "" "0000293908" "00025657" "10" "5928" "0" "5928" "0" "c.5928G>A" "r.(?)" "p.(Ala1976=)" "" "0000293908" "00016320" "10" "6009" "0" "6009" "0" "c.6009G>A" "r.(?)" "p.(Ala2003=)" "" "0000293910" "00025657" "10" "6170" "0" "6170" "0" "c.6170C>T" "r.(?)" "p.(Ala2057Val)" "" "0000293910" "00016320" "10" "6251" "0" "6251" "0" "c.6251C>T" "r.(?)" "p.(Ala2084Val)" "" "0000293911" "00025657" "30" "6314" "0" "6314" "0" "c.6314C>T" "r.(?)" "p.(Ala2105Val)" "" "0000293911" "00016320" "30" "6395" "0" "6395" "0" "c.6395C>T" "r.(?)" "p.(Ala2132Val)" "" "0000293912" "00025657" "10" "265" "-16" "265" "-16" "c.265-16C>G" "r.(=)" "p.(=)" "" "0000293912" "00016320" "10" "346" "-16" "346" "-16" "c.346-16C>G" "r.(=)" "p.(=)" "" "0000293913" "00025657" "10" "6441" "0" "6441" "0" "c.6441G>A" "r.(?)" "p.(Ala2147=)" "" "0000293913" "00016320" "10" "6522" "0" "6522" "0" "c.6522G>A" "r.(?)" "p.(Ala2174=)" "" "0000293914" "00025657" "30" "6594" "0" "6594" "0" "c.6594C>T" "r.(?)" "p.(Thr2198=)" "" "0000293914" "00016320" "30" "6675" "0" "6675" "0" "c.6675C>T" "r.(?)" "p.(Thr2225=)" "" "0000293915" "00025657" "10" "342" "13" "342" "13" "c.342+13G>A" "r.(=)" "p.(=)" "" "0000293915" "00016320" "10" "423" "13" "423" "13" "c.423+13G>A" "r.(=)" "p.(=)" "" "0000293916" "00025657" "10" "7581" "0" "7581" "0" "c.7581A>C" "r.(?)" "p.(Ala2527=)" "" "0000293916" "00016320" "10" "7662" "0" "7662" "0" "c.7662A>C" "r.(?)" "p.(Ala2554=)" "" "0000293917" "00025657" "10" "7878" "0" "7878" "0" "c.7878G>A" "r.(?)" "p.(Leu2626=)" "" "0000293917" "00016320" "10" "7959" "0" "7959" "0" "c.7959G>A" "r.(?)" "p.(Leu2653=)" "" "0000293918" "00025657" "10" "8253" "0" "8253" "0" "c.8253C>T" "r.(?)" "p.(Asn2751=)" "" "0000293918" "00016320" "10" "8334" "0" "8334" "0" "c.8334C>T" "r.(?)" "p.(Asn2778=)" "" "0000293919" "00025657" "10" "8319" "0" "8319" "0" "c.8319C>T" "r.(?)" "p.(Ala2773=)" "" "0000293919" "00016320" "10" "8400" "0" "8400" "0" "c.8400C>T" "r.(?)" "p.(Ala2800=)" "" "0000293920" "00025657" "10" "8495" "0" "8495" "0" "c.8495G>A" "r.(?)" "p.(Arg2832His)" "" "0000293920" "00016320" "10" "8576" "0" "8576" "0" "c.8576G>A" "r.(?)" "p.(Arg2859His)" "" "0000293921" "00025657" "50" "8509" "0" "8509" "0" "c.8509G>A" "r.(?)" "p.(Glu2837Lys)" "" "0000293921" "00016320" "50" "8590" "0" "8590" "0" "c.8590G>A" "r.(?)" "p.(Glu2864Lys)" "" "0000293923" "00025657" "10" "8820" "0" "8820" "0" "c.8820C>G" "r.(?)" "p.(Asp2940Glu)" "" "0000293923" "00016320" "10" "8901" "0" "8901" "0" "c.8901C>G" "r.(?)" "p.(Asp2967Glu)" "" "0000293924" "00025657" "50" "8912" "0" "8912" "0" "c.8912G>A" "r.(?)" "p.(Arg2971Gln)" "" "0000293924" "00016320" "50" "8993" "0" "8993" "0" "c.8993G>A" "r.(?)" "p.(Arg2998Gln)" "" "0000293925" "00025657" "10" "9101" "0" "9101" "0" "c.9101C>T" "r.(?)" "p.(Ala3034Val)" "" "0000293925" "00016320" "10" "9182" "0" "9182" "0" "c.9182C>T" "r.(?)" "p.(Ala3061Val)" "" "0000293926" "00025657" "50" "9544" "0" "9544" "0" "c.9544A>G" "r.(?)" "p.(Ser3182Gly)" "" "0000293926" "00016320" "50" "9625" "0" "9625" "0" "c.9625A>G" "r.(?)" "p.(Ser3209Gly)" "" "0000297087" "00025657" "30" "10323" "0" "10323" "0" "c.10323G>A" "r.(?)" "p.(Ser3441=)" "" "0000297087" "00016320" "30" "10404" "0" "10404" "0" "c.10404G>A" "r.(?)" "p.(Ser3468=)" "" "0000297088" "00025657" "30" "11720" "0" "11720" "0" "c.11720C>T" "r.(?)" "p.(Thr3907Met)" "" "0000297088" "00016320" "30" "11801" "0" "11801" "0" "c.11801C>T" "r.(?)" "p.(Thr3934Met)" "" "0000297089" "00025657" "30" "11940" "0" "11940" "0" "c.11940C>T" "r.(?)" "p.(Ile3980=)" "" "0000297089" "00016320" "30" "12021" "0" "12021" "0" "c.12021C>T" "r.(?)" "p.(Ile4007=)" "" "0000297090" "00025657" "50" "12344" "0" "12344" "0" "c.12344G>C" "r.(?)" "p.(Gly4115Ala)" "" "0000297090" "00016320" "50" "12425" "0" "12425" "0" "c.12425G>C" "r.(?)" "p.(Gly4142Ala)" "" "0000297091" "00025657" "30" "885" "0" "885" "0" "c.885G>A" "r.(?)" "p.(Met295Ile)" "" "0000297091" "00016320" "30" "966" "0" "966" "0" "c.966G>A" "r.(?)" "p.(Met322Ile)" "" "0000297092" "00025657" "10" "13110" "0" "13110" "0" "c.13110C>T" "r.(?)" "p.(Ala4370=)" "" "0000297092" "00016320" "10" "13191" "0" "13191" "0" "c.13191C>T" "r.(?)" "p.(Ala4397=)" "" "0000297093" "00025657" "30" "13479" "0" "13479" "0" "c.13479G>A" "r.(?)" "p.(Ser4493=)" "" "0000297093" "00016320" "30" "13560" "0" "13560" "0" "c.13560G>A" "r.(?)" "p.(Ser4520=)" "" "0000297094" "00025657" "30" "-11080" "0" "-11080" "0" "c.-11080C>T" "r.(?)" "p.(=)" "" "0000297094" "00016320" "30" "194" "-11849" "194" "-11849" "c.194-11849C>T" "r.(=)" "p.(=)" "" "0000297095" "00025657" "50" "1957" "0" "1957" "0" "c.1957G>A" "r.(?)" "p.(Ala653Thr)" "" "0000297095" "00016320" "50" "2038" "0" "2038" "0" "c.2038G>A" "r.(?)" "p.(Ala680Thr)" "" "0000297096" "00025657" "10" "2304" "13" "2304" "13" "c.2304+13dup" "r.(=)" "p.(=)" "" "0000297096" "00016320" "10" "2385" "13" "2385" "13" "c.2385+13dup" "r.(=)" "p.(=)" "" "0000297098" "00025657" "10" "2457" "6" "2457" "6" "c.2457+6C>T" "r.(=)" "p.(=)" "" "0000297098" "00016320" "10" "2538" "6" "2538" "6" "c.2538+6C>T" "r.(=)" "p.(=)" "" "0000297099" "00025657" "30" "2458" "-8" "2458" "-8" "c.2458-8C>T" "r.(=)" "p.(=)" "" "0000297099" "00016320" "30" "2539" "-8" "2539" "-8" "c.2539-8C>T" "r.(=)" "p.(=)" "" "0000297100" "00025657" "10" "-10949" "0" "-10949" "0" "c.-10949C>T" "r.(?)" "p.(=)" "" "0000297100" "00016320" "10" "194" "-11718" "194" "-11718" "c.194-11718C>T" "r.(=)" "p.(=)" "" "0000297101" "00025657" "50" "-33981" "0" "-33979" "0" "c.-33981_-33979del" "r.(?)" "p.(=)" "" "0000297101" "00016320" "50" "193" "1735" "193" "1737" "c.193+1735_193+1737del" "r.(=)" "p.(=)" "" "0000297102" "00025657" "30" "2844" "0" "2844" "0" "c.2844C>T" "r.(?)" "p.(Pro948=)" "" "0000297102" "00016320" "30" "2925" "0" "2925" "0" "c.2925C>T" "r.(?)" "p.(Pro975=)" "" "0000297104" "00025657" "30" "3351" "0" "3351" "0" "c.3351C>T" "r.(?)" "p.(Ala1117=)" "" "0000297104" "00016320" "30" "3432" "0" "3432" "0" "c.3432C>T" "r.(?)" "p.(Ala1144=)" "" "0000297105" "00025657" "30" "3481" "0" "3481" "0" "c.3481G>C" "r.(?)" "p.(Glu1161Gln)" "" "0000297105" "00016320" "30" "3562" "0" "3562" "0" "c.3562G>C" "r.(?)" "p.(Glu1188Gln)" "" "0000297106" "00025657" "30" "3745" "0" "3745" "0" "c.3745C>A" "r.(?)" "p.(Arg1249=)" "" "0000297106" "00016320" "30" "3826" "0" "3826" "0" "c.3826C>A" "r.(?)" "p.(Arg1276=)" "" "0000297107" "00025657" "30" "3945" "13" "3945" "13" "c.3945+13C>T" "r.(=)" "p.(=)" "" "0000297107" "00016320" "30" "4026" "13" "4026" "13" "c.4026+13C>T" "r.(=)" "p.(=)" "" "0000297108" "00025657" "30" "4076" "0" "4076" "0" "c.4076G>A" "r.(?)" "p.(Arg1359His)" "" "0000297108" "00016320" "30" "4157" "0" "4157" "0" "c.4157G>A" "r.(?)" "p.(Arg1386His)" "" "0000297109" "00025657" "30" "4162" "0" "4162" "0" "c.4162C>T" "r.(?)" "p.(Arg1388Trp)" "" "0000297109" "00016320" "30" "4243" "0" "4243" "0" "c.4243C>T" "r.(?)" "p.(Arg1415Trp)" "" "0000297110" "00025657" "30" "4428" "0" "4428" "0" "c.4428G>A" "r.(?)" "p.(Gln1476=)" "" "0000297110" "00016320" "30" "4509" "0" "4509" "0" "c.4509G>A" "r.(?)" "p.(Gln1503=)" "" "0000297111" "00025657" "10" "5304" "0" "5304" "0" "c.5304G>A" "r.(?)" "p.(Leu1768=)" "" "0000297111" "00016320" "10" "5385" "0" "5385" "0" "c.5385G>A" "r.(?)" "p.(Leu1795=)" "" "0000297112" "00025657" "30" "5476" "0" "5476" "0" "c.5476C>T" "r.(?)" "p.(Arg1826Trp)" "" "0000297112" "00016320" "30" "5557" "0" "5557" "0" "c.5557C>T" "r.(?)" "p.(Arg1853Trp)" "" "0000297113" "00025657" "30" "5849" "0" "5849" "0" "c.5849G>A" "r.(?)" "p.(Arg1950His)" "" "0000297113" "00016320" "30" "5930" "0" "5930" "0" "c.5930G>A" "r.(?)" "p.(Arg1977His)" "" "0000297114" "00025657" "90" "6211" "0" "6211" "0" "c.6211C>T" "r.(?)" "p.(Gln2071Ter)" "" "0000297114" "00016320" "90" "6292" "0" "6292" "0" "c.6292C>T" "r.(?)" "p.(Gln2098Ter)" "" "0000297115" "00025657" "30" "6248" "0" "6248" "0" "c.6248C>T" "r.(?)" "p.(Ala2083Val)" "" "0000297115" "00016320" "30" "6329" "0" "6329" "0" "c.6329C>T" "r.(?)" "p.(Ala2110Val)" "" "0000297116" "00025657" "30" "6426" "0" "6426" "0" "c.6426C>T" "r.(?)" "p.(Ala2142=)" "" "0000297116" "00016320" "30" "6507" "0" "6507" "0" "c.6507C>T" "r.(?)" "p.(Ala2169=)" "" "0000297117" "00025657" "50" "6743" "0" "6743" "0" "c.6743A>C" "r.(?)" "p.(Glu2248Ala)" "" "0000297117" "00016320" "50" "6824" "0" "6824" "0" "c.6824A>C" "r.(?)" "p.(Glu2275Ala)" "" "0000297118" "00025657" "30" "7074" "0" "7074" "0" "c.7074G>A" "r.(?)" "p.(Ala2358=)" "" "0000297118" "00016320" "30" "7155" "0" "7155" "0" "c.7155G>A" "r.(?)" "p.(Ala2385=)" "" "0000297119" "00025657" "30" "7267" "0" "7267" "0" "c.7267G>A" "r.(?)" "p.(Ala2423Thr)" "" "0000297119" "00016320" "30" "7348" "0" "7348" "0" "c.7348G>A" "r.(?)" "p.(Ala2450Thr)" "" "0000297120" "00025657" "30" "7830" "0" "7830" "0" "c.7830G>A" "r.(?)" "p.(Ala2610=)" "" "0000297120" "00016320" "30" "7911" "0" "7911" "0" "c.7911G>A" "r.(?)" "p.(Ala2637=)" "" "0000297121" "00025657" "30" "8391" "0" "8391" "0" "c.8391C>T" "r.(?)" "p.(Ile2797=)" "" "0000297121" "00016320" "30" "8472" "0" "8472" "0" "c.8472C>T" "r.(?)" "p.(Ile2824=)" "" "0000297122" "00025657" "30" "8475" "0" "8475" "0" "c.8475C>T" "r.(?)" "p.(Pro2825=)" "" "0000297122" "00016320" "30" "8556" "0" "8556" "0" "c.8556C>T" "r.(?)" "p.(Pro2852=)" "" "0000297123" "00025657" "30" "9333" "0" "9333" "0" "c.9333G>A" "r.(?)" "p.(Gly3111=)" "" "0000297123" "00016320" "30" "9414" "0" "9414" "0" "c.9414G>A" "r.(?)" "p.(Gly3138=)" "" "0000301029" "00025657" "30" "9961" "0" "9961" "0" "c.9961G>A" "r.(?)" "p.(Gly3321Arg)" "" "0000301029" "00016320" "30" "10042" "0" "10042" "0" "c.10042G>A" "r.(?)" "p.(Gly3348Arg)" "" "0000301030" "00025657" "10" "718" "10" "718" "10" "c.718+10C>T" "r.(=)" "p.(=)" "" "0000301030" "00016320" "10" "799" "10" "799" "10" "c.799+10C>T" "r.(=)" "p.(=)" "" "0000301031" "00025657" "50" "11077" "0" "11077" "0" "c.11077G>A" "r.(?)" "p.(Ala3693Thr)" "" "0000301031" "00016320" "50" "11158" "0" "11158" "0" "c.11158G>A" "r.(?)" "p.(Ala3720Thr)" "" "0000301032" "00025657" "10" "12784" "0" "12784" "0" "c.12784G>A" "r.(?)" "p.(Val4262Ile)" "" "0000301032" "00016320" "10" "12865" "0" "12865" "0" "c.12865G>A" "r.(?)" "p.(Val4289Ile)" "" "0000301033" "00025657" "30" "1158" "0" "1158" "0" "c.1158C>G" "r.(?)" "p.(Ser386Arg)" "" "0000301033" "00016320" "30" "1239" "0" "1239" "0" "c.1239C>G" "r.(?)" "p.(Ser413Arg)" "" "0000301034" "00025657" "30" "1706" "0" "1706" "0" "c.1706G>A" "r.(?)" "p.(Arg569Gln)" "" "0000301034" "00016320" "30" "1787" "0" "1787" "0" "c.1787G>A" "r.(?)" "p.(Arg596Gln)" "" "0000301035" "00025657" "10" "4045" "-4" "4045" "-4" "c.4045-4A>G" "r.spl?" "p.?" "" "0000301035" "00016320" "10" "4126" "-4" "4126" "-4" "c.4126-4A>G" "r.spl?" "p.?" "" "0000301036" "00025657" "50" "5966" "0" "5966" "0" "c.5966G>A" "r.(?)" "p.(Arg1989His)" "" "0000301036" "00016320" "50" "6047" "0" "6047" "0" "c.6047G>A" "r.(?)" "p.(Arg2016His)" "" "0000301037" "00025657" "10" "8050" "0" "8050" "0" "c.8050C>T" "r.(?)" "p.(Arg2684Trp)" "" "0000301037" "00016320" "10" "8131" "0" "8131" "0" "c.8131C>T" "r.(?)" "p.(Arg2711Trp)" "" "0000305844" "00025657" "30" "9756" "0" "9756" "0" "c.9756G>A" "r.(?)" "p.(Thr3252=)" "" "0000305844" "00016320" "30" "9837" "0" "9837" "0" "c.9837G>A" "r.(?)" "p.(Thr3279=)" "" "0000305845" "00025657" "50" "10522" "0" "10522" "0" "c.10522G>A" "r.(?)" "p.(Asp3508Asn)" "" "0000305845" "00016320" "50" "10603" "0" "10603" "0" "c.10603G>A" "r.(?)" "p.(Asp3535Asn)" "" "0000305846" "00025657" "30" "10759" "0" "10759" "0" "c.10759C>T" "r.(?)" "p.(Leu3587=)" "" "0000305846" "00016320" "30" "10840" "0" "10840" "0" "c.10840C>T" "r.(?)" "p.(Leu3614=)" "" "0000305847" "00025657" "50" "10936" "0" "10936" "0" "c.10936C>T" "r.(?)" "p.(Arg3646Cys)" "" "0000305847" "00016320" "50" "11017" "0" "11017" "0" "c.11017C>T" "r.(?)" "p.(Arg3673Cys)" "" "0000305848" "00025657" "50" "10999" "0" "10999" "0" "c.10999C>T" "r.(?)" "p.(Arg3667Trp)" "" "0000305848" "00016320" "50" "11080" "0" "11080" "0" "c.11080C>T" "r.(?)" "p.(Arg3694Trp)" "" "0000305849" "00025657" "30" "11637" "0" "11637" "0" "c.11637C>T" "r.(?)" "p.(Asp3879=)" "" "0000305849" "00016320" "30" "11718" "0" "11718" "0" "c.11718C>T" "r.(?)" "p.(Asp3906=)" "" "0000305850" "00025657" "50" "11818" "0" "11818" "0" "c.11818G>A" "r.(?)" "p.(Val3940Met)" "" "0000305850" "00016320" "50" "11899" "0" "11899" "0" "c.11899G>A" "r.(?)" "p.(Val3967Met)" "" "0000305851" "00025657" "50" "11906" "0" "11906" "0" "c.11906C>T" "r.(?)" "p.(Ala3969Val)" "" "0000305851" "00016320" "50" "11987" "0" "11987" "0" "c.11987C>T" "r.(?)" "p.(Ala3996Val)" "" "0000305852" "00025657" "30" "11994" "0" "11994" "0" "c.11994C>T" "r.(?)" "p.(Pro3998=)" "" "0000305852" "00016320" "30" "12075" "0" "12075" "0" "c.12075C>T" "r.(?)" "p.(Pro4025=)" "" "0000305853" "00025657" "30" "12783" "0" "12783" "0" "c.12783C>T" "r.(?)" "p.(Ala4261=)" "" "0000305853" "00016320" "30" "12864" "0" "12864" "0" "c.12864C>T" "r.(?)" "p.(Ala4288=)" "" "0000305854" "00025657" "50" "13529" "0" "13529" "0" "c.13529G>T" "r.(?)" "p.(Gly4510Val)" "" "0000305854" "00016320" "50" "13610" "0" "13610" "0" "c.13610G>T" "r.(?)" "p.(Gly4537Val)" "" "0000305855" "00025657" "50" "1439" "0" "1439" "0" "c.1439G>A" "r.(?)" "p.(Arg480His)" "" "0000305855" "00016320" "50" "1520" "0" "1520" "0" "c.1520G>A" "r.(?)" "p.(Arg507His)" "" "0000305856" "00025657" "50" "1567" "0" "1567" "0" "c.1567C>T" "r.(?)" "p.(Arg523Cys)" "" "0000305856" "00016320" "50" "1648" "0" "1648" "0" "c.1648C>T" "r.(?)" "p.(Arg550Cys)" "" "0000305857" "00025657" "30" "1824" "0" "1824" "0" "c.1824C>T" "r.(?)" "p.(Ser608=)" "" "0000305857" "00016320" "30" "1905" "0" "1905" "0" "c.1905C>T" "r.(?)" "p.(Ser635=)" "" "0000305858" "00025657" "50" "1864" "0" "1864" "0" "c.1864G>T" "r.(?)" "p.(Val622Leu)" "" "0000305858" "00016320" "50" "1945" "0" "1945" "0" "c.1945G>T" "r.(?)" "p.(Val649Leu)" "" "0000305859" "00025657" "30" "2165" "0" "2165" "0" "c.2165C>T" "r.(?)" "p.(Ala722Val)" "" "0000305859" "00016320" "30" "2246" "0" "2246" "0" "c.2246C>T" "r.(?)" "p.(Ala749Val)" "" "0000305860" "00025657" "50" "2701" "0" "2701" "0" "c.2701C>T" "r.(?)" "p.(Arg901Cys)" "" "0000305860" "00016320" "50" "2782" "0" "2782" "0" "c.2782C>T" "r.(?)" "p.(Arg928Cys)" "" "0000305861" "00025657" "50" "2743" "0" "2743" "0" "c.2743C>T" "r.(?)" "p.(Arg915Cys)" "" "0000305861" "00016320" "50" "2824" "0" "2824" "0" "c.2824C>T" "r.(?)" "p.(Arg942Cys)" "" "0000305862" "00025657" "10" "2768" "0" "2768" "0" "c.2768G>A" "r.(?)" "p.(Arg923His)" "" "0000305862" "00016320" "10" "2849" "0" "2849" "0" "c.2849G>A" "r.(?)" "p.(Arg950His)" "" "0000305863" "00025657" "30" "3045" "0" "3045" "0" "c.3045G>T" "r.(?)" "p.(Pro1015=)" "" "0000305863" "00016320" "30" "3126" "0" "3126" "0" "c.3126G>T" "r.(?)" "p.(Pro1042=)" "" "0000305864" "00025657" "30" "3527" "0" "3527" "0" "c.3527G>A" "r.(?)" "p.(Arg1176His)" "" "0000305864" "00016320" "30" "3608" "0" "3608" "0" "c.3608G>A" "r.(?)" "p.(Arg1203His)" "" "0000305865" "00025657" "30" "3543" "0" "3543" "0" "c.3543C>T" "r.(?)" "p.(Val1181=)" "" "0000305865" "00016320" "30" "3624" "0" "3624" "0" "c.3624C>T" "r.(?)" "p.(Val1208=)" "" "0000305866" "00025657" "30" "-10849" "0" "-10849" "0" "c.-10849C>T" "r.(?)" "p.(=)" "" "0000305866" "00016320" "30" "194" "-11618" "194" "-11618" "c.194-11618C>T" "r.(=)" "p.(=)" "" "0000305867" "00025657" "30" "3885" "0" "3885" "0" "c.3885G>A" "r.(?)" "p.(Pro1295=)" "" "0000305867" "00016320" "30" "3966" "0" "3966" "0" "c.3966G>A" "r.(?)" "p.(Pro1322=)" "" "0000305868" "00025657" "10" "4083" "0" "4083" "0" "c.4083G>A" "r.(?)" "p.(Arg1361=)" "" "0000305868" "00016320" "10" "4164" "0" "4164" "0" "c.4164G>A" "r.(?)" "p.(Arg1388=)" "" "0000305869" "00025657" "30" "4326" "0" "4326" "0" "c.4326G>A" "r.(?)" "p.(Ala1442=)" "" "0000305869" "00016320" "30" "4407" "0" "4407" "0" "c.4407G>A" "r.(?)" "p.(Ala1469=)" "" "0000305870" "00025657" "30" "-10750" "0" "-10750" "0" "c.-10750C>T" "r.(?)" "p.(=)" "" "0000305870" "00016320" "30" "194" "-11519" "194" "-11519" "c.194-11519C>T" "r.(=)" "p.(=)" "" "0000305871" "00025657" "30" "4560" "0" "4560" "0" "c.4560C>T" "r.(?)" "p.(Arg1520=)" "" "0000305871" "00016320" "30" "4641" "0" "4641" "0" "c.4641C>T" "r.(?)" "p.(Arg1547=)" "" "0000305872" "00025657" "10" "-10743" "0" "-10743" "0" "c.-10743C>T" "r.(?)" "p.(=)" "" "0000305872" "00016320" "10" "194" "-11512" "194" "-11512" "c.194-11512C>T" "r.(=)" "p.(=)" "" "0000305873" "00025657" "50" "4651" "0" "4651" "0" "c.4651C>T" "r.(?)" "p.(Arg1551Cys)" "" "0000305873" "00016320" "50" "4732" "0" "4732" "0" "c.4732C>T" "r.(?)" "p.(Arg1578Cys)" "" "0000305874" "00025657" "50" "5026" "0" "5026" "0" "c.5026C>T" "r.(?)" "p.(Arg1676Cys)" "" "0000305874" "00016320" "50" "5107" "0" "5107" "0" "c.5107C>T" "r.(?)" "p.(Arg1703Cys)" "" "0000305875" "00025657" "50" "5282" "0" "5282" "0" "c.5282G>A" "r.(?)" "p.(Arg1761Gln)" "" "0000305875" "00016320" "50" "5363" "0" "5363" "0" "c.5363G>A" "r.(?)" "p.(Arg1788Gln)" "" "0000305876" "00025657" "30" "58" "0" "58" "0" "c.58A>G" "r.(?)" "p.(Ser20Gly)" "" "0000305876" "00016320" "30" "194" "-712" "194" "-712" "c.194-712A>G" "r.(=)" "p.(=)" "" "0000305877" "00025657" "30" "5633" "0" "5633" "0" "c.5633G>A" "r.(?)" "p.(Arg1878Gln)" "" "0000305877" "00016320" "30" "5714" "0" "5714" "0" "c.5714G>A" "r.(?)" "p.(Arg1905Gln)" "" "0000305878" "00025657" "10" "5653" "0" "5653" "0" "c.5653G>A" "r.(?)" "p.(Ala1885Thr)" "" "0000305878" "00016320" "10" "5734" "0" "5734" "0" "c.5734G>A" "r.(?)" "p.(Ala1912Thr)" "" "0000305879" "00025657" "30" "5811" "0" "5811" "0" "c.5811G>A" "r.(?)" "p.(Ala1937=)" "" "0000305879" "00016320" "30" "5892" "0" "5892" "0" "c.5892G>A" "r.(?)" "p.(Ala1964=)" "" "0000305880" "00025657" "50" "6010" "0" "6010" "0" "c.6010C>T" "r.(?)" "p.(Arg2004Trp)" "" "0000305880" "00016320" "50" "6091" "0" "6091" "0" "c.6091C>T" "r.(?)" "p.(Arg2031Trp)" "" "0000305881" "00025657" "50" "6385" "0" "6385" "0" "c.6385G>T" "r.(?)" "p.(Ala2129Ser)" "" "0000305881" "00016320" "50" "6466" "0" "6466" "0" "c.6466G>T" "r.(?)" "p.(Ala2156Ser)" "" "0000305882" "00025657" "50" "6416" "0" "6416" "0" "c.6416G>A" "r.(?)" "p.(Arg2139His)" "" "0000305882" "00016320" "50" "6497" "0" "6497" "0" "c.6497G>A" "r.(?)" "p.(Arg2166His)" "" "0000305883" "00025657" "50" "6455" "0" "6455" "0" "c.6455C>T" "r.(?)" "p.(Ala2152Val)" "" "0000305883" "00016320" "50" "6536" "0" "6536" "0" "c.6536C>T" "r.(?)" "p.(Ala2179Val)" "" "0000305884" "00025657" "30" "6594" "0" "6594" "0" "c.6594C>T" "r.(?)" "p.(Thr2198=)" "" "0000305884" "00016320" "30" "6675" "0" "6675" "0" "c.6675C>T" "r.(?)" "p.(Thr2225=)" "" "0000305885" "00025657" "30" "6729" "0" "6729" "0" "c.6729C>T" "r.(?)" "p.(Leu2243=)" "" "0000305885" "00016320" "30" "6810" "0" "6810" "0" "c.6810C>T" "r.(?)" "p.(Leu2270=)" "" "0000305886" "00025657" "30" "6755" "0" "6755" "0" "c.6755G>A" "r.(?)" "p.(Arg2252His)" "" "0000305886" "00016320" "30" "6836" "0" "6836" "0" "c.6836G>A" "r.(?)" "p.(Arg2279His)" "" "0000305887" "00025657" "30" "6786" "0" "6786" "0" "c.6786G>A" "r.(?)" "p.(Thr2262=)" "" "0000305887" "00016320" "30" "6867" "0" "6867" "0" "c.6867G>A" "r.(?)" "p.(Thr2289=)" "" "0000305888" "00025657" "30" "7074" "0" "7074" "0" "c.7074G>A" "r.(?)" "p.(Ala2358=)" "" "0000305888" "00016320" "30" "7155" "0" "7155" "0" "c.7155G>A" "r.(?)" "p.(Ala2385=)" "" "0000305889" "00025657" "30" "8139" "0" "8139" "0" "c.8139C>T" "r.(?)" "p.(Tyr2713=)" "" "0000305889" "00016320" "30" "8220" "0" "8220" "0" "c.8220C>T" "r.(?)" "p.(Tyr2740=)" "" "0000305890" "00025657" "50" "8333" "0" "8333" "0" "c.8333A>C" "r.(?)" "p.(Lys2778Thr)" "" "0000305890" "00016320" "50" "8414" "0" "8414" "0" "c.8414A>C" "r.(?)" "p.(Lys2805Thr)" "" "0000305891" "00025657" "30" "8378" "0" "8378" "0" "c.8378A>G" "r.(?)" "p.(Gln2793Arg)" "" "0000305891" "00016320" "30" "8459" "0" "8459" "0" "c.8459A>G" "r.(?)" "p.(Gln2820Arg)" "" "0000305892" "00025657" "30" "8475" "0" "8475" "0" "c.8475C>T" "r.(?)" "p.(Pro2825=)" "" "0000305892" "00016320" "30" "8556" "0" "8556" "0" "c.8556C>T" "r.(?)" "p.(Pro2852=)" "" "0000305893" "00025657" "30" "8574" "0" "8574" "0" "c.8574G>A" "r.(?)" "p.(Thr2858=)" "" "0000305893" "00016320" "30" "8655" "0" "8655" "0" "c.8655G>A" "r.(?)" "p.(Thr2885=)" "" "0000305894" "00025657" "30" "8613" "0" "8613" "0" "c.8613C>T" "r.(?)" "p.(Cys2871=)" "" "0000305894" "00016320" "30" "8694" "0" "8694" "0" "c.8694C>T" "r.(?)" "p.(Cys2898=)" "" "0000332343" "00025657" "30" "13255" "0" "13255" "0" "c.13255G>A" "r.(?)" "p.(Ala4419Thr)" "" "0000332343" "00016320" "30" "13336" "0" "13336" "0" "c.13336G>A" "r.(?)" "p.(Ala4446Thr)" "" "0000332344" "00025657" "50" "13228" "0" "13228" "0" "c.13228G>A" "r.(?)" "p.(Glu4410Lys)" "" "0000332344" "00016320" "50" "13309" "0" "13309" "0" "c.13309G>A" "r.(?)" "p.(Glu4437Lys)" "" "0000332345" "00025657" "30" "13205" "0" "13205" "0" "c.13205C>T" "r.(?)" "p.(Thr4402Met)" "" "0000332345" "00016320" "30" "13286" "0" "13286" "0" "c.13286C>T" "r.(?)" "p.(Thr4429Met)" "" "0000332346" "00025657" "30" "12784" "0" "12784" "0" "c.12784G>A" "r.(?)" "p.(Val4262Ile)" "" "0000332346" "00016320" "30" "12865" "0" "12865" "0" "c.12865G>A" "r.(?)" "p.(Val4289Ile)" "" "0000332348" "00025657" "30" "12360" "0" "12360" "0" "c.12360G>A" "r.(?)" "p.(Pro4120=)" "" "0000332348" "00016320" "30" "12441" "0" "12441" "0" "c.12441G>A" "r.(?)" "p.(Pro4147=)" "" "0000332349" "00025657" "50" "11995" "0" "11995" "0" "c.11995G>A" "r.(?)" "p.(Glu3999Lys)" "" "0000332349" "00016320" "50" "12076" "0" "12076" "0" "c.12076G>A" "r.(?)" "p.(Glu4026Lys)" "" "0000332350" "00025657" "30" "11994" "0" "11994" "0" "c.11994C>T" "r.(?)" "p.(Pro3998=)" "" "0000332350" "00016320" "30" "12075" "0" "12075" "0" "c.12075C>T" "r.(?)" "p.(Pro4025=)" "" "0000332351" "00025657" "50" "11836" "0" "11836" "0" "c.11836C>T" "r.(?)" "p.(Arg3946Trp)" "" "0000332351" "00016320" "50" "11917" "0" "11917" "0" "c.11917C>T" "r.(?)" "p.(Arg3973Trp)" "" "0000332353" "00025657" "30" "11758" "0" "11758" "0" "c.11758G>C" "r.(?)" "p.(Glu3920Gln)" "" "0000332353" "00016320" "30" "11839" "0" "11839" "0" "c.11839G>C" "r.(?)" "p.(Glu3947Gln)" "" "0000332355" "00025657" "30" "11611" "0" "11611" "0" "c.11611G>A" "r.(?)" "p.(Gly3871Ser)" "" "0000332355" "00016320" "30" "11692" "0" "11692" "0" "c.11692G>A" "r.(?)" "p.(Gly3898Ser)" "" "0000332357" "00025657" "30" "11140" "0" "11140" "0" "c.11140C>T" "r.(?)" "p.(Leu3714=)" "" "0000332357" "00016320" "30" "11221" "0" "11221" "0" "c.11221C>T" "r.(?)" "p.(Leu3741=)" "" "0000332358" "00025657" "50" "11094" "0" "11094" "0" "c.11094C>T" "r.(?)" "p.(Pro3698=)" "" "0000332358" "00016320" "50" "11175" "0" "11175" "0" "c.11175C>T" "r.(?)" "p.(Pro3725=)" "" "0000332359" "00025657" "10" "11089" "0" "11089" "0" "c.11089C>T" "r.(?)" "p.(Leu3697=)" "" "0000332359" "00016320" "10" "11170" "0" "11170" "0" "c.11170C>T" "r.(?)" "p.(Leu3724=)" "" "0000332361" "00025657" "30" "10986" "0" "10986" "0" "c.10986C>T" "r.(?)" "p.(Thr3662=)" "" "0000332361" "00016320" "30" "11067" "0" "11067" "0" "c.11067C>T" "r.(?)" "p.(Thr3689=)" "" "0000332362" "00025657" "30" "10759" "0" "10759" "0" "c.10759C>T" "r.(?)" "p.(Leu3587=)" "" "0000332362" "00016320" "30" "10840" "0" "10840" "0" "c.10840C>T" "r.(?)" "p.(Leu3614=)" "" "0000332363" "00025657" "10" "9945" "0" "9945" "0" "c.9945C>T" "r.(?)" "p.(Ser3315=)" "" "0000332363" "00016320" "10" "10026" "0" "10026" "0" "c.10026C>T" "r.(?)" "p.(Ser3342=)" "" "0000332364" "00025657" "30" "9925" "0" "9925" "0" "c.9925C>T" "r.(?)" "p.(Arg3309Cys)" "" "0000332364" "00016320" "30" "10006" "0" "10006" "0" "c.10006C>T" "r.(?)" "p.(Arg3336Cys)" "" "0000332365" "00025657" "30" "9615" "0" "9615" "0" "c.9615C>T" "r.(?)" "p.(Thr3205=)" "" "0000332365" "00016320" "30" "9696" "0" "9696" "0" "c.9696C>T" "r.(?)" "p.(Thr3232=)" "" "0000332366" "00025657" "50" "8911" "0" "8911" "0" "c.8911C>T" "r.(?)" "p.(Arg2971Trp)" "" "0000332366" "00016320" "50" "8992" "0" "8992" "0" "c.8992C>T" "r.(?)" "p.(Arg2998Trp)" "" "0000332367" "00025657" "50" "8882" "0" "8882" "0" "c.8882C>T" "r.(?)" "p.(Thr2961Met)" "" "0000332367" "00016320" "50" "8963" "0" "8963" "0" "c.8963C>T" "r.(?)" "p.(Thr2988Met)" "" "0000332368" "00025657" "50" "8738" "0" "8738" "0" "c.8738C>T" "r.(?)" "p.(Pro2913Leu)" "" "0000332368" "00016320" "50" "8819" "0" "8819" "0" "c.8819C>T" "r.(?)" "p.(Pro2940Leu)" "" "0000332369" "00025657" "50" "8609" "0" "8609" "0" "c.8609G>A" "r.(?)" "p.(Arg2870His)" "" "0000332369" "00016320" "50" "8690" "0" "8690" "0" "c.8690G>A" "r.(?)" "p.(Arg2897His)" "" "0000332370" "00025657" "30" "8509" "0" "8509" "0" "c.8509G>A" "r.(?)" "p.(Glu2837Lys)" "" "0000332370" "00016320" "30" "8590" "0" "8590" "0" "c.8590G>A" "r.(?)" "p.(Glu2864Lys)" "" "0000332371" "00025657" "30" "8489" "0" "8489" "0" "c.8489A>G" "r.(?)" "p.(Tyr2830Cys)" "" "0000332371" "00016320" "30" "8570" "0" "8570" "0" "c.8570A>G" "r.(?)" "p.(Tyr2857Cys)" "" "0000332372" "00025657" "30" "8481" "0" "8481" "0" "c.8481C>T" "r.(?)" "p.(Asp2827=)" "" "0000332372" "00016320" "30" "8562" "0" "8562" "0" "c.8562C>T" "r.(?)" "p.(Asp2854=)" "" "0000332373" "00025657" "50" "8430" "0" "8430" "0" "c.8430C>G" "r.(?)" "p.(Ile2810Met)" "" "0000332373" "00016320" "50" "8511" "0" "8511" "0" "c.8511C>G" "r.(?)" "p.(Ile2837Met)" "" "0000332374" "00025657" "50" "8266" "0" "8266" "0" "c.8266G>A" "r.(?)" "p.(Glu2756Lys)" "" "0000332374" "00016320" "50" "8347" "0" "8347" "0" "c.8347G>A" "r.(?)" "p.(Glu2783Lys)" "" "0000332375" "00025657" "30" "8050" "0" "8050" "0" "c.8050C>T" "r.(?)" "p.(Arg2684Trp)" "" "0000332375" "00016320" "30" "8131" "0" "8131" "0" "c.8131C>T" "r.(?)" "p.(Arg2711Trp)" "" "0000332376" "00025657" "30" "8012" "0" "8012" "0" "c.8012G>A" "r.(?)" "p.(Arg2671Gln)" "" "0000332376" "00016320" "30" "8093" "0" "8093" "0" "c.8093G>A" "r.(?)" "p.(Arg2698Gln)" "" "0000332377" "00025657" "50" "7669" "0" "7669" "0" "c.7669C>T" "r.(?)" "p.(Arg2557Trp)" "" "0000332377" "00016320" "50" "7750" "0" "7750" "0" "c.7750C>T" "r.(?)" "p.(Arg2584Trp)" "" "0000332379" "00025657" "30" "7074" "0" "7074" "0" "c.7074G>A" "r.(?)" "p.(Ala2358=)" "" "0000332379" "00016320" "30" "7155" "0" "7155" "0" "c.7155G>A" "r.(?)" "p.(Ala2385=)" "" "0000332381" "00025657" "50" "6778" "0" "6778" "0" "c.6778G>A" "r.(?)" "p.(Asp2260Asn)" "" "0000332381" "00016320" "50" "6859" "0" "6859" "0" "c.6859G>A" "r.(?)" "p.(Asp2287Asn)" "" "0000332383" "00025657" "30" "6577" "0" "6577" "0" "c.6577C>T" "r.(?)" "p.(Leu2193=)" "" "0000332383" "00016320" "30" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Leu2220=)" "" "0000332384" "00025657" "50" "6408" "0" "6408" "0" "c.6408G>A" "r.(?)" "p.(Glu2136=)" "" "0000332384" "00016320" "50" "6489" "0" "6489" "0" "c.6489G>A" "r.(?)" "p.(Glu2163=)" "" "0000332385" "00025657" "50" "6398" "0" "6398" "0" "c.6398C>T" "r.(?)" "p.(Ala2133Val)" "" "0000332385" "00016320" "50" "6479" "0" "6479" "0" "c.6479C>T" "r.(?)" "p.(Ala2160Val)" "" "0000332387" "00025657" "50" "6059" "0" "6059" "0" "c.6059A>C" "r.(?)" "p.(Glu2020Ala)" "" "0000332387" "00016320" "50" "6140" "0" "6140" "0" "c.6140A>C" "r.(?)" "p.(Glu2047Ala)" "" "0000332388" "00025657" "50" "5922" "0" "5922" "0" "c.5922G>C" "r.(?)" "p.(Gln1974His)" "" "0000332388" "00016320" "50" "6003" "0" "6003" "0" "c.6003G>C" "r.(?)" "p.(Gln2001His)" "" "0000332389" "00025657" "50" "5879" "0" "5879" "0" "c.5879G>A" "r.(?)" "p.(Arg1960His)" "" "0000332389" "00016320" "50" "5960" "0" "5960" "0" "c.5960G>A" "r.(?)" "p.(Arg1987His)" "" "0000332390" "00025657" "30" "5796" "0" "5796" "0" "c.5796G>A" "r.(?)" "p.(Ala1932=)" "" "0000332390" "00016320" "30" "5877" "0" "5877" "0" "c.5877G>A" "r.(?)" "p.(Ala1959=)" "" "0000332391" "00025657" "30" "5653" "0" "5653" "0" "c.5653G>A" "r.(?)" "p.(Ala1885Thr)" "" "0000332391" "00016320" "30" "5734" "0" "5734" "0" "c.5734G>A" "r.(?)" "p.(Ala1912Thr)" "" "0000332392" "00025657" "50" "5540" "0" "5540" "0" "c.5540G>A" "r.(?)" "p.(Arg1847Gln)" "" "0000332392" "00016320" "50" "5621" "0" "5621" "0" "c.5621G>A" "r.(?)" "p.(Arg1874Gln)" "" "0000332393" "00025657" "30" "5477" "0" "5477" "0" "c.5477G>A" "r.(?)" "p.(Arg1826Gln)" "" "0000332393" "00016320" "30" "5558" "0" "5558" "0" "c.5558G>A" "r.(?)" "p.(Arg1853Gln)" "" "0000332395" "00025657" "50" "5443" "0" "5443" "0" "c.5443C>T" "r.(?)" "p.(Arg1815Trp)" "" "0000332395" "00016320" "50" "5524" "0" "5524" "0" "c.5524C>T" "r.(?)" "p.(Arg1842Trp)" "" "0000332397" "00025657" "50" "5379" "0" "5379" "0" "c.5379C>T" "r.(?)" "p.(Ala1793=)" "" "0000332397" "00016320" "50" "5460" "0" "5460" "0" "c.5460C>T" "r.(?)" "p.(Ala1820=)" "" "0000332398" "00025657" "30" "5316" "0" "5316" "0" "c.5316G>A" "r.(?)" "p.(Ala1772=)" "" "0000332398" "00016320" "30" "5397" "0" "5397" "0" "c.5397G>A" "r.(?)" "p.(Ala1799=)" "" "0000332399" "00025657" "30" "5304" "0" "5304" "0" "c.5304G>A" "r.(?)" "p.(Leu1768=)" "" "0000332399" "00016320" "30" "5385" "0" "5385" "0" "c.5385G>A" "r.(?)" "p.(Leu1795=)" "" "0000332400" "00025657" "30" "5229" "0" "5229" "0" "c.5229G>A" "r.(?)" "p.(Ala1743=)" "" "0000332400" "00016320" "30" "5310" "0" "5310" "0" "c.5310G>A" "r.(?)" "p.(Ala1770=)" "" "0000332401" "00025657" "50" "5065" "0" "5065" "0" "c.5065C>T" "r.(?)" "p.(Leu1689=)" "" "0000332401" "00016320" "50" "5146" "0" "5146" "0" "c.5146C>T" "r.(?)" "p.(Leu1716=)" "" "0000332402" "00025657" "50" "5027" "0" "5027" "0" "c.5027G>A" "r.(?)" "p.(Arg1676His)" "" "0000332402" "00016320" "50" "5108" "0" "5108" "0" "c.5108G>A" "r.(?)" "p.(Arg1703His)" "" "0000332403" "00025657" "50" "4873" "0" "4873" "0" "c.4873G>A" "r.(?)" "p.(Glu1625Lys)" "" "0000332403" "00016320" "50" "4954" "0" "4954" "0" "c.4954G>A" "r.(?)" "p.(Glu1652Lys)" "" "0000332404" "00025657" "50" "4651" "0" "4651" "0" "c.4651C>T" "r.(?)" "p.(Arg1551Cys)" "" "0000332404" "00016320" "50" "4732" "0" "4732" "0" "c.4732C>T" "r.(?)" "p.(Arg1578Cys)" "" "0000332405" "00025657" "30" "4598" "0" "4598" "0" "c.4598G>A" "r.(?)" "p.(Arg1533Gln)" "" "0000332405" "00016320" "30" "4679" "0" "4679" "0" "c.4679G>A" "r.(?)" "p.(Arg1560Gln)" "" "0000332406" "00025657" "30" "4557" "0" "4557" "0" "c.4557G>A" "r.(?)" "p.(Ser1519=)" "" "0000332406" "00016320" "30" "4638" "0" "4638" "0" "c.4638G>A" "r.(?)" "p.(Ser1546=)" "" "0000332407" "00025657" "50" "4373" "0" "4373" "0" "c.4373G>T" "r.(?)" "p.(Arg1458Leu)" "" "0000332407" "00016320" "50" "4454" "0" "4454" "0" "c.4454G>T" "r.(?)" "p.(Arg1485Leu)" "" "0000332408" "00025657" "30" "4366" "0" "4366" "0" "c.4366G>A" "r.(?)" "p.(Val1456Met)" "" "0000332408" "00016320" "30" "4447" "0" "4447" "0" "c.4447G>A" "r.(?)" "p.(Val1483Met)" "" "0000332410" "00025657" "50" "3885" "0" "3885" "0" "c.3885G>A" "r.(?)" "p.(Pro1295=)" "" "0000332410" "00016320" "50" "3966" "0" "3966" "0" "c.3966G>A" "r.(?)" "p.(Pro1322=)" "" "0000332411" "00025657" "10" "3869" "0" "3869" "0" "c.3869A>G" "r.(?)" "p.(Lys1290Arg)" "" "0000332411" "00016320" "10" "3950" "0" "3950" "0" "c.3950A>G" "r.(?)" "p.(Lys1317Arg)" "" "0000332412" "00025657" "30" "3682" "0" "3682" "0" "c.3682C>T" "r.(?)" "p.(Arg1228Trp)" "" "0000332412" "00016320" "30" "3763" "0" "3763" "0" "c.3763C>T" "r.(?)" "p.(Arg1255Trp)" "" "0000332414" "00025657" "50" "3532" "0" "3532" "0" "c.3532C>T" "r.(?)" "p.(Arg1178Trp)" "" "0000332414" "00016320" "50" "3613" "0" "3613" "0" "c.3613C>T" "r.(?)" "p.(Arg1205Trp)" "" "0000332415" "00025657" "30" "2844" "0" "2844" "0" "c.2844C>T" "r.(?)" "p.(Pro948=)" "" "0000332415" "00016320" "30" "2925" "0" "2925" "0" "c.2925C>T" "r.(?)" "p.(Pro975=)" "" "0000332416" "00025657" "50" "2507" "0" "2507" "0" "c.2507C>T" "r.(?)" "p.(Pro836Leu)" "" "0000332416" "00016320" "50" "2588" "0" "2588" "0" "c.2588C>T" "r.(?)" "p.(Pro863Leu)" "" "0000332417" "00025657" "30" "2458" "-8" "2458" "-8" "c.2458-8C>T" "r.(=)" "p.(=)" "" "0000332417" "00016320" "30" "2539" "-8" "2539" "-8" "c.2539-8C>T" "r.(=)" "p.(=)" "" "0000332418" "00025657" "70" "2457" "1" "2457" "1" "c.2457+1G>A" "r.spl?" "p.?" "" "0000332418" "00016320" "70" "2538" "1" "2538" "1" "c.2538+1G>A" "r.spl?" "p.?" "" "0000332419" "00025657" "50" "2308" "0" "2308" "0" "c.2308G>A" "r.(?)" "p.(Glu770Lys)" "" "0000332419" "00016320" "50" "2389" "0" "2389" "0" "c.2389G>A" "r.(?)" "p.(Glu797Lys)" "" "0000332420" "00025657" "50" "2305" "-10" "2305" "-10" "c.2305-10del" "r.(=)" "p.(=)" "" "0000332420" "00016320" "50" "2386" "-10" "2386" "-10" "c.2386-10del" "r.(=)" "p.(=)" "" "0000332421" "00025657" "30" "2237" "0" "2237" "0" "c.2237G>A" "r.(?)" "p.(Arg746His)" "" "0000332421" "00016320" "30" "2318" "0" "2318" "0" "c.2318G>A" "r.(?)" "p.(Arg773His)" "" "0000332422" "00025657" "10" "1706" "0" "1706" "0" "c.1706G>A" "r.(?)" "p.(Arg569Gln)" "" "0000332422" "00016320" "10" "1787" "0" "1787" "0" "c.1787G>A" "r.(?)" "p.(Arg596Gln)" "" "0000332423" "00025657" "50" "1705" "0" "1705" "0" "c.1705C>T" "r.(?)" "p.(Arg569Trp)" "" "0000332423" "00016320" "50" "1786" "0" "1786" "0" "c.1786C>T" "r.(?)" "p.(Arg596Trp)" "" "0000332424" "00025657" "50" "1374" "0" "1374" "0" "c.1374C>T" "r.(?)" "p.(Thr458=)" "" "0000332424" "00016320" "50" "1455" "0" "1455" "0" "c.1455C>T" "r.(?)" "p.(Thr485=)" "" "0000332425" "00025657" "50" "1236" "0" "1236" "0" "c.1236G>A" "r.(?)" "p.(Leu412=)" "" "0000332425" "00016320" "50" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Leu439=)" "" "0000332426" "00025657" "30" "887" "0" "887" "0" "c.887G>A" "r.(?)" "p.(Arg296Gln)" "" "0000332426" "00016320" "30" "968" "0" "968" "0" "c.968G>A" "r.(?)" "p.(Arg323Gln)" "" "0000332427" "00025657" "30" "826" "-15" "826" "-15" "c.826-15C>T" "r.(=)" "p.(=)" "" "0000332427" "00016320" "30" "907" "-15" "907" "-15" "c.907-15C>T" "r.(=)" "p.(=)" "" "0000332428" "00025657" "30" "772" "0" "772" "0" "c.772C>T" "r.(?)" "p.(Leu258=)" "" "0000332428" "00016320" "30" "853" "0" "853" "0" "c.853C>T" "r.(?)" "p.(Leu285=)" "" "0000332429" "00025657" "30" "718" "10" "718" "10" "c.718+10C>T" "r.(=)" "p.(=)" "" "0000332429" "00016320" "30" "799" "10" "799" "10" "c.799+10C>T" "r.(=)" "p.(=)" "" "0000332430" "00025657" "50" "718" "5" "718" "5" "c.718+5G>A" "r.spl?" "p.?" "" "0000332430" "00016320" "50" "799" "5" "799" "5" "c.799+5G>A" "r.spl?" "p.?" "" "0000332432" "00025657" "30" "-3028" "0" "-3028" "0" "c.-3028C>G" "r.(?)" "p.(=)" "" "0000332432" "00016320" "30" "194" "-3797" "194" "-3797" "c.194-3797C>G" "r.(=)" "p.(=)" "" "0000332433" "00025657" "50" "-35761" "0" "-35761" "0" "c.-35761G>T" "r.(?)" "p.(=)" "" "0000332433" "00016320" "50" "148" "0" "148" "0" "c.148G>T" "r.(?)" "p.(Gly50Trp)" "" "0000332434" "00025657" "50" "-35883" "0" "-35883" "0" "c.-35883G>A" "r.(?)" "p.(=)" "" "0000332434" "00016320" "50" "26" "0" "26" "0" "c.26G>A" "r.(?)" "p.(Arg9Gln)" "" "0000341951" "00025657" "50" "4075" "0" "4075" "0" "c.4075C>T" "r.(?)" "p.(Arg1359Cys)" "" "0000341951" "00016320" "50" "4156" "0" "4156" "0" "c.4156C>T" "r.(?)" "p.(Arg1386Cys)" "" "0000342206" "00025657" "50" "5723" "0" "5723" "0" "c.5723G>T" "r.(?)" "p.(Arg1908Leu)" "" "0000342206" "00016320" "50" "5804" "0" "5804" "0" "c.5804G>T" "r.(?)" "p.(Arg1935Leu)" "" "0000342383" "00025657" "90" "6874" "0" "6874" "0" "c.6874C>T" "r.(?)" "p.(Arg2292Ter)" "" "0000342383" "00016320" "90" "6955" "0" "6955" "0" "c.6955C>T" "r.(?)" "p.(Arg2319Ter)" "" "0000342706" "00025657" "50" "10127" "0" "10127" "0" "c.10127G>A" "r.(?)" "p.(Arg3376His)" "" "0000342706" "00016320" "50" "10208" "0" "10208" "0" "c.10208G>A" "r.(?)" "p.(Arg3403His)" "" "0000344082" "00025657" "50" "11554" "0" "11554" "0" "c.11554G>A" "r.(?)" "p.(Asp3852Asn)" "" "0000344082" "00016320" "50" "11635" "0" "11635" "0" "c.11635G>A" "r.(?)" "p.(Asp3879Asn)" "" "0000344568" "00025657" "90" "4141" "0" "4141" "0" "c.4141C>T" "r.(?)" "p.(Gln1381Ter)" "" "0000344568" "00016320" "90" "4222" "0" "4222" "0" "c.4222C>T" "r.(?)" "p.(Gln1408Ter)" "" "0000345195" "00025657" "30" "4981" "0" "4981" "0" "c.4981G>A" "r.(?)" "p.(Glu1661Lys)" "" "0000345195" "00016320" "30" "5062" "0" "5062" "0" "c.5062G>A" "r.(?)" "p.(Glu1688Lys)" "" "0000345214" "00025657" "50" "5488" "0" "5488" "0" "c.5488G>A" "r.(?)" "p.(Glu1830Lys)" "" "0000345214" "00016320" "50" "5569" "0" "5569" "0" "c.5569G>A" "r.(?)" "p.(Glu1857Lys)" "" "0000345344" "00025657" "50" "8699" "0" "8699" "0" "c.8699A>C" "r.(?)" "p.(Glu2900Ala)" "" "0000345344" "00016320" "50" "8780" "0" "8780" "0" "c.8780A>C" "r.(?)" "p.(Glu2927Ala)" "" "0000346049" "00025657" "50" "11422" "0" "11422" "0" "c.11422G>A" "r.(?)" "p.(Gly3808Ser)" "" "0000346049" "00016320" "50" "11503" "0" "11503" "0" "c.11503G>A" "r.(?)" "p.(Gly3835Ser)" "" "0000439067" "00016320" "50" "10285" "0" "10285" "0" "c.10285G>A" "r.(?)" "p.Val3429Met" "" "0000440085" "00016320" "50" "5356" "0" "5356" "0" "c.5356A>G" "r.(?)" "p.Lys1786Glu" "" "0000441100" "00016320" "50" "6161" "0" "6161" "0" "c.6161G>A" "r.(?)" "p.Arg2054Gln" "" "0000442722" "00016320" "50" "12891" "0" "12891" "0" "c.12891G>C" "r.(?)" "p.Trp4297Cys" "" "0000446173" "00016320" "90" "193" "1705" "193" "1713" "c.193+1705_193+1713del" "r.(?)" "p.0?" "2i" "0000446174" "00016320" "90" "193" "1705" "193" "1713" "c.193+1705_193+1713del" "r.(?)" "p.0?" "2i" "0000446175" "00016320" "90" "193" "1705" "193" "1713" "c.193+1705_193+1713del" "r.(?)" "p.0?" "2i" "0000446176" "00016320" "90" "193" "1705" "193" "1713" "c.193+1705_193+1713del" "r.(?)" "p.0?" "2i" "0000446177" "00016320" "90" "193" "1705" "193" "1713" "c.193+1705_193+1713del" "r.(?)" "p.0?" "2i" "0000446178" "00016320" "90" "193" "1705" "193" "1713" "c.193+1705_193+1713del" "r.(?)" "p.0?" "2i" "0000446179" "00016320" "10" "255" "22" "255" "22" "c.255+22G>C" "r.(?)" "p.(=)" "3i" "0000446180" "00016320" "10" "459" "0" "459" "0" "c.459T>C" "r.(?)" "p.(=)" "6" "0000446181" "00016320" "10" "1027" "-33" "1027" "-33" "c.1027-33C>G" "r.(?)" "p.(=)" "10i" "0000446182" "00016320" "10" "1027" "-33" "1027" "-33" "c.1027-33C>G" "r.(?)" "p.(=)" "10i" "0000446183" "00016320" "10" "1176" "0" "1176" "0" "c.1176T>C" "r.(?)" "p.(=)" "12" "0000446184" "00016320" "10" "1250" "43" "1250" "43" "c.1250+43T>A" "r.(?)" "p.(=)" "12i" "0000446185" "00016320" "10" "1345" "-15" "1345" "-15" "c.1345-15G>A" "r.(?)" "p.(=)" "13i" "0000446186" "00016320" "10" "1592" "0" "1592" "0" "c.1592C>T" "r.(?)" "p.(Ala531Val)" "15" "0000446187" "00016320" "10" "1896" "13" "1896" "13" "c.1896+13A>G" "r.(?)" "p.(=)" "16i" "0000446188" "00016320" "10" "2385" "13" "2385" "13" "c.2385+13dup" "r.(?)" "p.(=)" "20i" "0000446189" "00016320" "10" "2538" "6" "2538" "6" "c.2538+6C>T" "r.(?)" "p.(=)" "21i" "0000446190" "00016320" "10" "3004" "37" "3004" "37" "c.3004+37C>T" "r.(?)" "p.(=)" "24i" "0000446191" "00016320" "10" "3631" "0" "3631" "0" "c.3631T>C" "r.(?)" "p.(=)" "28" "0000446192" "00016320" "10" "3827" "0" "3827" "0" "c.3827G>A" "r.(?)" "p.(Arg1276Gln)" "28" "0000446193" "00016320" "10" "3838" "-6" "3838" "-6" "c.3838-6A>G" "r.(?)" "p.(=)" "28i" "0000446194" "00016320" "10" "4046" "0" "4046" "0" "c.4046A>G" "r.(?)" "p.(His1349Arg)" "31" "0000446195" "00016320" "10" "4126" "-4" "4126" "-4" "c.4126-4A>G" "r.spl?" "p.?" "31i" "0000446196" "00016320" "10" "4494" "0" "4494" "0" "c.4494T>C" "r.(?)" "p.(=)" "32" "0000446197" "00016320" "10" "4536" "0" "4536" "0" "c.4536T>G" "r.(?)" "p.(=)" "32" "0000446198" "00016320" "10" "4557" "0" "4557" "0" "c.4557G>A" "r.(?)" "p.(=)" "32" "0000446199" "00016320" "10" "4761" "0" "4761" "0" "c.4761G>A" "r.(?)" "p.(=)" "32" "0000446200" "00016320" "50" "5310" "0" "5310" "0" "c.5310G>A" "r.(?)" "p.(=)" "32" "0000446201" "00016320" "10" "5988" "0" "5988" "0" "c.5988T>C" "r.(?)" "p.(=)" "32" "0000446202" "00016320" "10" "6009" "0" "6009" "0" "c.6009G>A" "r.(?)" "p.(=)" "32" "0000446203" "00016320" "10" "6251" "0" "6251" "0" "c.6251C>T" "r.(?)" "p.(Ala2084Val)" "32" "0000446204" "00016320" "10" "6522" "0" "6522" "0" "c.6522G>A" "r.(?)" "p.(=)" "32" "0000446205" "00016320" "10" "7506" "37" "7506" "37" "c.7506+37C>T" "r.(?)" "p.(=)" "32i" "0000446206" "00016320" "10" "7507" "-35" "7507" "-35" "c.7507-35C>T" "r.(?)" "p.(=)" "32i" "0000446207" "00016320" "10" "7662" "0" "7662" "0" "c.7662A>C" "r.(?)" "p.(=)" "33" "0000446208" "00016320" "10" "8041" "0" "8041" "0" "c.8041T>C" "r.(?)" "p.(Ser2681Pro)" "33" "0000446209" "00016320" "10" "8073" "0" "8073" "0" "c.8073G>A" "r.(?)" "p.(=)" "33" "0000446210" "00016320" "10" "8334" "0" "8334" "0" "c.8334C>T" "r.(?)" "p.(=)" "33" "0000446211" "00016320" "10" "8576" "0" "8576" "0" "c.8576G>A" "r.(?)" "p.(Arg2859His)" "33" "0000446212" "00016320" "10" "9154" "0" "9154" "0" "c.9154G>A" "r.(?)" "p.(Val3052Ile)" "33" "0000446213" "00016320" "10" "9858" "0" "9858" "0" "c.9858T>A" "r.(?)" "p.(=)" "33" "0000446214" "00016320" "10" "10693" "0" "10693" "0" "c.10693T>C" "r.(?)" "p.(=)" "33" "0000446215" "00016320" "10" "10746" "0" "10746" "0" "c.10746G>A" "r.(?)" "p.(=)" "33" "0000446216" "00016320" "10" "11208" "0" "11208" "0" "c.11208T>C" "r.(?)" "p.(=)" "33" "0000446217" "00016320" "10" "11709" "0" "11709" "0" "c.11709A>G" "r.(?)" "p.(=)" "33" "0000446218" "00016320" "10" "11967" "0" "11967" "0" "c.11967A>G" "r.(?)" "p.(=)" "33" "0000446219" "00016320" "10" "12894" "0" "12894" "0" "c.12894A>G" "r.(?)" "p.(=)" "33" "0000446220" "00016320" "10" "13542" "0" "13542" "0" "c.13542T>C" "r.(?)" "p.(=)" "33" "0000446221" "00016320" "10" "13735" "0" "13735" "0" "c.*10C>T" "r.(?)" "p.(=)" "33" "0000446222" "00016320" "70" "3064" "0" "3064" "0" "c.3064C>T" "r.(?)" "p.(Gln1022Ter)" "25" "0000446223" "00016320" "70" "11503" "0" "11503" "0" "c.11503G>A" "r.(?)" "p.(Gly3835Ser)" "33" "0000464695" "00016320" "50" "6392" "0" "6392" "0" "c.6392C>T" "r.(?)" "p.(Ala2131Val)" "32" "0000464696" "00016320" "50" "3541" "0" "3541" "0" "c.3541C>T" "r.(?)" "p.(Arg1181Trp)" "28" "0000464697" "00016320" "50" "3669" "0" "3669" "0" "c.3669C>T" "r.(?)" "p.(=)" "28" "0000464698" "00016320" "50" "4915" "0" "4915" "0" "c.4915C>T" "r.(?)" "p.(Arg1639Trp)" "32" "0000464699" "00016320" "50" "11158" "0" "11158" "0" "c.11158G>A" "r.(?)" "p.(Ala3720Thr)" "33" "0000464700" "00016320" "50" "9115" "0" "9115" "0" "c.9115G>A" "r.(?)" "p.(Glu3039Lys)" "32" "0000464701" "00016320" "50" "5471" "0" "5471" "0" "c.5471G>A" "r.(?)" "p.(Arg1824His)" "31" "0000464702" "00016320" "50" "11006" "0" "11006" "0" "c.11006A>G" "r.(?)" "p.(Tyr3669Cys)" "32" "0000464703" "00016320" "50" "7225" "0" "7225" "0" "c.7225G>A" "r.(?)" "p.(Ala2409Thr)" "31" "0000464704" "00016320" "50" "8897" "0" "8897" "0" "c.8897G>A" "r.(?)" "p.(Arg2966Gln)" "33" "0000464705" "00016320" "50" "2558" "0" "2558" "0" "c.2558A>G" "r.(?)" "p.(Asp853Gly)" "22" "0000464706" "00016320" "50" "10453" "0" "10453" "0" "c.10453C>T" "r.(?)" "p.(Arg3485Trp)" "33" "0000464707" "00016320" "50" "3530" "0" "3530" "0" "c.3530G>A" "r.(?)" "p.(Arg1177Gln)" "28" "0000464708" "00016320" "50" "3530" "0" "3530" "0" "c.3530G>A" "r.(?)" "p.(Arg1177Gln)" "28" "0000464709" "00016320" "50" "10288" "0" "10288" "0" "c.10288C>T" "r.(?)" "p.(Arg3430Trp)" "33" "0000464710" "00016320" "50" "6062" "0" "6062" "0" "c.6062T>C" "r.(?)" "p.(Leu2021Pro)" "32" "0000464711" "00016320" "50" "11482" "0" "11482" "0" "c.11482G>A" "r.(?)" "p.(Asp3828Asn)" "32" "0000464712" "00016320" "50" "3812" "0" "3812" "0" "c.3812T>G" "r.(?)" "p.(Val1271Gly)" "27" "0000464713" "00016320" "50" "11899" "0" "11899" "0" "c.11899G>A" "r.(?)" "p.(Val3967Met)" "33" "0000464714" "00016320" "50" "1343" "0" "1343" "0" "c.1343C>T" "r.(?)" "p.(Ser448Leu)" "13" "0000464715" "00016320" "50" "10543" "0" "10543" "0" "c.10543G>A" "r.(?)" "p.(Ala3515Thr)" "33" "0000464716" "00016320" "50" "8882" "0" "8882" "0" "c.8882C>T" "r.(?)" "p.(Thr2961Met)" "33" "0000464717" "00016320" "50" "3032" "0" "3032" "0" "c.3032G>A" "r.(?)" "p.(Arg1011His)" "25" "0000464718" "00016320" "50" "4432" "0" "4432" "0" "c.4432G>A" "r.(?)" "p.(Glu1478Lys)" "32" "0000464719" "00016320" "50" "13549" "0" "13549" "0" "c.13549C>A" "r.(?)" "p.(Arg4517Ser)" "33" "0000464720" "00016320" "50" "13192" "0" "13192" "0" "c.13192G>A" "r.(?)" "p.(Ala4398Thr)" "33" "0000464721" "00016320" "50" "5602" "0" "5602" "0" "c.5602G>A" "r.(?)" "p.(Ala1868Thr)" "32" "0000464722" "00016320" "50" "3091" "0" "3091" "0" "c.3091G>A" "r.(?)" "p.(Val1031Met)" "25" "0000464723" "00016320" "50" "9773" "0" "9773" "0" "c.9773G>C" "r.(?)" "p.(Arg3258Pro)" "33" "0000464724" "00016320" "50" "10297" "0" "10297" "0" "c.10297C>T" "r.(?)" "p.(Arg3433Cys)" "33" "0000464725" "00016320" "50" "4550" "0" "4550" "0" "c.4550G>A" "r.(?)" "p.(Arg1517Gln)" "32" "0000464726" "00016320" "50" "12799" "0" "12799" "0" "c.12799G>A" "r.(?)" "p.(Ala4267Thr)" "33" "0000464727" "00016320" "50" "2925" "0" "2925" "0" "c.2925C>T" "r.(?)" "p.(=)" "24" "0000464728" "00016320" "90" "4336" "0" "4336" "0" "c.4336C>T" "r.(?)" "p.(Gln1446*)" "32" "0000464729" "00016320" "50" "6675" "0" "6675" "0" "c.6675C>T" "r.(?)" "p.(=)" "32" "0000464730" "00016320" "90" "11368" "0" "11369" "0" "c.11368_11369del" "r.(?)" "p.(Ser3790Glyfs*2)" "33" "0000464731" "00016320" "50" "8593" "0" "8595" "0" "c.8593_8595del" "r.(?)" "p.(Glu2865del)" "33" "0000464732" "00016320" "50" "13294" "0" "13294" "0" "c.13294C>T" "r.(?)" "p.(Arg4432Cys)" "33" "0000464733" "00016320" "50" "1367" "0" "1367" "0" "c.1367G>A" "r.(?)" "p.(Gly456Asp)" "14" "0000464734" "00016320" "90" "7261" "0" "7261" "0" "c.7261C>T" "r.(?)" "p.(Arg2421*)" "32" "0000464735" "00016320" "50" "8587" "0" "8587" "0" "c.8587G>A" "r.(?)" "p.(Asp2863Asn)" "33" "0000464736" "00016320" "50" "10302" "0" "10302" "0" "c.10302G>T" "r.(?)" "p.(=)" "33" "0000464737" "00016320" "50" "12818" "0" "12818" "0" "c.12818G>A" "r.(?)" "p.(Arg4273His)" "33" "0000464738" "00016320" "50" "6279" "0" "6279" "0" "c.6279G>T" "r.(?)" "p.(Gln2093His)" "32" "0000464739" "00016320" "50" "9050" "0" "9050" "0" "c.9050G>C" "r.(?)" "p.(Arg3017Thr)" "33" "0000464740" "00016320" "50" "9115" "0" "9115" "0" "c.9115G>A" "r.(?)" "p.(Glu3039Lys)" "33" "0000464741" "00016320" "50" "7163" "0" "7163" "0" "c.7163C>T" "r.(?)" "p.(Thr2388Met)" "32" "0000464742" "00016320" "50" "5524" "0" "5524" "0" "c.5524C>T" "r.(?)" "p.(Arg1842Trp)" "32" "0000464743" "00016320" "50" "4679" "0" "4679" "0" "c.4679G>A" "r.(?)" "p.(Arg1560Gln)" "32" "0000464744" "00016320" "50" "10688" "0" "10688" "0" "c.10688C>T" "r.(?)" "p.(Thr3563Met)" "33" "0000464745" "00016320" "50" "1295" "0" "1295" "0" "c.1295C>T" "r.(?)" "p.(Ala432Val)" "13" "0000464746" "00016320" "50" "12161" "0" "12161" "0" "c.12161A>G" "r.(?)" "p.(Gln4054Arg)" "32" "0000464747" "00016320" "50" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Arg239Trp)" "7" "0000464748" "00016320" "50" "164" "0" "164" "0" "c.164C>A" "r.(?)" "p.(Pro55Gln)" "2" "0000464749" "00016320" "50" "4732" "0" "4732" "0" "c.4732C>T" "r.(?)" "p.(Arg1578Cys)" "31" "0000464750" "00016320" "50" "3859" "0" "3859" "0" "c.3859C>G" "r.(?)" "p.(Arg1287Gly)" "28" "0000464751" "00016320" "50" "8926" "0" "8926" "0" "c.8926C>T" "r.(?)" "p.(Arg2976Trp)" "32" "0000464752" "00016320" "50" "8926" "0" "8926" "0" "c.8926C>T" "r.(?)" "p.(Arg2976Trp)" "32" "0000464753" "00016320" "50" "6563" "0" "6563" "0" "c.6563A>G" "r.(?)" "p.(Gln2188Arg)" "31" "0000464754" "00016320" "50" "6563" "0" "6563" "0" "c.6563A>G" "r.(?)" "p.(Gln2188Arg)" "31" "0000464755" "00016320" "50" "7225" "0" "7225" "0" "c.7225G>A" "r.(?)" "p.(Ala2409Thr)" "31" "0000464756" "00016320" "50" "12433" "0" "12433" "0" "c.12433C>T" "r.(?)" "p.(Leu4145Phe)" "32" "0000464757" "00016320" "50" "4477" "0" "4477" "0" "c.4477C>T" "r.(?)" "p.(Arg1493Cys)" "32" "0000464758" "00016320" "50" "4679" "0" "4679" "0" "c.4679G>A" "r.(?)" "p.(Arg1560Gln)" "32" "0000464759" "00016320" "50" "4732" "0" "4732" "0" "c.4732C>T" "r.(?)" "p.(Arg1578Cys)" "31" "0000464760" "00016320" "50" "6359" "0" "6359" "0" "c.6359C>T" "r.(?)" "p.(Ala2120Val)" "32" "0000464761" "00016320" "50" "5308" "0" "5308" "0" "c.5308G>A" "r.(?)" "p.(Ala1770Thr)" "32" "0000464762" "00016320" "50" "8926" "0" "8926" "0" "c.8926C>T" "r.(?)" "p.(Arg2976Trp)" "32" "0000464763" "00016320" "50" "3310" "0" "3310" "0" "c.3310G>A" "r.(?)" "p.(Val1104Ile)" "26" "0000464764" "00016320" "50" "6563" "0" "6563" "0" "c.6563A>G" "r.(?)" "p.(Gln2188Arg)" "31" "0000464765" "00016320" "50" "6617" "0" "6617" "0" "c.6617G>A" "r.(?)" "p.(Arg2206Gln)" "31" "0000464766" "00016320" "50" "6601" "0" "6601" "0" "c.6601G>A" "r.(?)" "p.(Ala2201Thr)" "32" "0000464767" "00016320" "50" "10493" "0" "10493" "0" "c.10493C>T" "r.(?)" "p.(Thr3498Met)" "33" "0000464768" "00016320" "50" "6046" "0" "6046" "0" "c.6046C>T" "r.(?)" "p.(Arg2016Cys)" "32" "0000464769" "00016320" "50" "4642" "0" "4642" "0" "c.4642G>A" "r.(?)" "p.(Val1548Met)" "32" "0000464770" "00016320" "50" "5412" "0" "5412" "0" "c.5412G>C" "r.(?)" "p.(Glu1804Asp)" "32" "0000464771" "00016320" "50" "9740" "0" "9740" "0" "c.9740G>A" "r.(?)" "p.(Arg3247Gln)" "33" "0000464772" "00016320" "50" "7225" "0" "7225" "0" "c.7225G>A" "r.(?)" "p.(Ala2409Thr)" "31" "0000464773" "00016320" "50" "7834" "0" "7834" "0" "c.7834G>C" "r.(?)" "p.(Glu2612Gln)" "33" "0000464774" "00016320" "50" "6923" "0" "6923" "0" "c.6923C>T" "r.(?)" "p.(Ala2308Val)" "32" "0000464775" "00016320" "50" "8587" "0" "8587" "0" "c.8587G>A" "r.(?)" "p.(Asp2863Asn)" "33" "0000464776" "00016320" "50" "11410" "0" "11410" "0" "c.11410G>A" "r.(?)" "p.(Glu3804Lys)" "33" "0000464777" "00016320" "50" "3223" "0" "3223" "0" "c.3223G>A" "r.(?)" "p.(Glu1075Lys)" "26" "0000464778" "00016320" "50" "10813" "0" "10813" "0" "c.10813G>A" "r.(?)" "p.(Gly3605Ser)" "33" "0000464779" "00016320" "50" "11218" "0" "11218" "0" "c.11218G>A" "r.(?)" "p.(Gly3740Arg)" "33" "0000464780" "00016320" "50" "5024" "0" "5024" "0" "c.5024C>T" "r.(?)" "p.(Ala1675Val)" "32" "0000464781" "00016320" "50" "3742" "0" "3742" "0" "c.3742G>T" "r.(?)" "p.(Ala1248Ser)" "28" "0000464782" "00016320" "50" "8263" "0" "8263" "0" "c.8263A>G" "r.(?)" "p.(Ile2755Val)" "33" "0000464783" "00016320" "50" "8587" "0" "8587" "0" "c.8587G>A" "r.(?)" "p.(Asp2863Asn)" "33" "0000464784" "00016320" "50" "5552" "0" "5552" "0" "c.5552C>T" "r.(?)" "p.(Ala1851Val)" "32" "0000464785" "00016320" "50" "1348" "0" "1348" "0" "c.1348G>A" "r.(?)" "p.(Val450Ile)" "14" "0000464786" "00016320" "50" "6394" "0" "6394" "0" "c.6394G>A" "r.(?)" "p.(Ala2132Thr)" "32" "0000464787" "00016320" "50" "9115" "0" "9115" "0" "c.9115G>A" "r.(?)" "p.(Glu3039Lys)" "33" "0000464788" "00016320" "50" "8674" "0" "8674" "0" "c.8674C>G" "r.(?)" "p.(Leu2892Val)" "33" "0000464789" "00016320" "50" "11605" "0" "11605" "0" "c.11605G>A" "r.(?)" "p.(Glu3869Lys)" "33" "0000464790" "00016320" "50" "7202" "0" "7202" "0" "c.7202G>A" "r.(?)" "p.(Arg2401Gln)" "32" "0000464791" "00016320" "50" "4936" "0" "4936" "0" "c.4936G>A" "r.(?)" "p.(Glu1646Lys)" "32" "0000464792" "00016320" "50" "3449" "0" "3449" "0" "c.3449C>T" "r.(?)" "p.(Pro1150Leu)" "27" "0000464793" "00016320" "50" "4732" "0" "4732" "0" "c.4732C>T" "r.(?)" "p.(Arg1578Cys)" "32" "0000464794" "00016320" "50" "4732" "0" "4732" "0" "c.4732C>T" "r.(?)" "p.(Arg1578Cys)" "32" "0000464795" "00016320" "50" "11917" "0" "11917" "0" "c.11917C>T" "r.(?)" "p.(Arg3973Trp)" "33" "0000464796" "00016320" "50" "7252" "0" "7252" "0" "c.7252G>A" "r.(?)" "p.(Glu2418Lys)" "32" "0000464797" "00016320" "50" "1640" "0" "1640" "0" "c.1640C>T" "r.(?)" "p.(Ser547Phe)" "15" "0000464798" "00016320" "50" "1295" "0" "1295" "0" "c.1295C>T" "r.(?)" "p.(Ala432Val)" "13" "0000464799" "00016320" "50" "11848" "0" "11848" "0" "c.11848A>G" "r.(?)" "p.(Lys3950Glu)" "33" "0000464800" "00016320" "50" "12519" "0" "12519" "0" "c.12519C>T" "r.(?)" "p.(=)" "33" "0000464801" "00016320" "50" "8587" "0" "8587" "0" "c.8587G>A" "r.(?)" "p.(Asp2863Asn)" "33" "0000464802" "00016320" "50" "1239" "0" "1239" "0" "c.1239C>G" "r.(?)" "p.(Ser413Arg)" "12" "0000464803" "00016320" "50" "5674" "0" "5674" "0" "c.5674C>T" "r.(?)" "p.(Arg1892Cys)" "32" "0000464804" "00016320" "50" "12764" "0" "12764" "0" "c.12764C>G" "r.(?)" "p.(Ser4255Cys)" "33" "0000464805" "00016320" "50" "6062" "0" "6062" "0" "c.6062T>C" "r.(?)" "p.(Leu2021Pro)" "32" "0000464806" "00016320" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000464807" "00016320" "50" "12944" "0" "12944" "0" "c.12944C>T" "r.(?)" "p.(Thr4315Met)" "33" "0000464808" "00016320" "50" "4636" "0" "4637" "0" "c.4636_4637inv" "r.(?)" "p.(Ser1546Glu)" "32" "0000464809" "00016320" "50" "11288" "0" "11288" "0" "c.11288C>T" "r.(?)" "p.(Pro3763Leu)" "33" "0000464810" "00016320" "50" "1239" "0" "1239" "0" "c.1239C>G" "r.(?)" "p.(Ser413Arg)" "12" "0000464811" "00016320" "50" "4159" "0" "4159" "0" "c.4159G>A" "r.(?)" "p.(Glu1387Lys)" "32" "0000464812" "00016320" "50" "4620" "0" "4649" "0" "c.4620_4649del" "r.(?)" "p.(Val1542_Glu1551del)" "32" "0000464813" "00016320" "50" "10288" "0" "10288" "0" "c.10288C>T" "r.(?)" "p.(Arg3430Trp)" "33" "0000464814" "00016320" "50" "9313" "0" "9313" "0" "c.9313G>A" "r.(?)" "p.(Val3105Met)" "33" "0000464815" "00016320" "50" "3977" "0" "3977" "0" "c.3977C>T" "r.(?)" "p.(Pro1326Leu)" "30" "0000464816" "00016320" "90" "9081" "0" "9082" "0" "c.9081_9082delinsTT" "r.(?)" "p.(Gln3028*)" "33" "0000464817" "00016320" "50" "11390" "0" "11390" "0" "c.11390G>A" "r.(?)" "p.(Gly3797Asp)" "33" "0000464818" "00016320" "90" "9639" "0" "9640" "0" "c.9639_9640del" "r.(?)" "p.(Glu3215Alafs*44)" "33" "0000464819" "00016320" "50" "9658" "0" "9658" "0" "c.9658G>T" "r.(?)" "p.(Gly3220Cys)" "33" "0000464820" "00016320" "50" "13253" "0" "13253" "0" "c.13253A>G" "r.(?)" "p.(Gln4418Arg)" "33" "0000464821" "00016320" "90" "4756" "0" "4756" "0" "c.4756C>T" "r.(?)" "p.(Arg1586*)" "32" "0000464822" "00016320" "90" "2409" "0" "2410" "0" "c.2409_2410dup" "r.(?)" "p.(Tyr804Cysfs*19)" "21" "0000464823" "00016320" "50" "10525" "0" "10525" "0" "c.10525C>T" "r.(?)" "p.(Arg3509Cys)" "33" "0000464824" "00016320" "50" "11345" "0" "11345" "0" "c.11345C>A" "r.(?)" "p.(Pro3782His)" "32" "0000464825" "00016320" "50" "2554" "0" "2562" "0" "c.2554_2562del" "r.(?)" "p.(Gly852_Glu854del)" "21" "0000533960" "00025657" "30" "13575" "0" "13575" "0" "c.13575G>A" "r.(?)" "p.(Ser4525=)" "" "0000533960" "00016320" "30" "13656" "0" "13656" "0" "c.13656G>A" "r.(?)" "p.(Ser4552=)" "" "0000533961" "00025657" "30" "13536" "0" "13536" "0" "c.13536C>T" "r.(?)" "p.(Gly4512=)" "" "0000533961" "00016320" "30" "13617" "0" "13617" "0" "c.13617C>T" "r.(?)" "p.(Gly4539=)" "" "0000533963" "00025657" "30" "13479" "0" "13479" "0" "c.13479G>A" "r.(?)" "p.(Ser4493=)" "" "0000533963" "00016320" "30" "13560" "0" "13560" "0" "c.13560G>A" "r.(?)" "p.(Ser4520=)" "" "0000533964" "00025657" "30" "13473" "0" "13473" "0" "c.13473C>T" "r.(?)" "p.(Thr4491=)" "" "0000533964" "00016320" "30" "13554" "0" "13554" "0" "c.13554C>T" "r.(?)" "p.(Thr4518=)" "" "0000533965" "00025657" "50" "13345" "0" "13345" "0" "c.13345G>A" "r.(?)" "p.(Ala4449Thr)" "" "0000533965" "00016320" "50" "13426" "0" "13426" "0" "c.13426G>A" "r.(?)" "p.(Ala4476Thr)" "" "0000533967" "00025657" "50" "12992" "0" "12992" "0" "c.12992C>T" "r.(?)" "p.(Pro4331Leu)" "" "0000533967" "00016320" "50" "13073" "0" "13073" "0" "c.13073C>T" "r.(?)" "p.(Pro4358Leu)" "" "0000533968" "00025657" "50" "12907" "0" "12907" "0" "c.12907G>A" "r.(?)" "p.(Val4303Met)" "" "0000533968" "00016320" "50" "12988" "0" "12988" "0" "c.12988G>A" "r.(?)" "p.(Val4330Met)" "" "0000533969" "00025657" "30" "12847" "0" "12847" "0" "c.12847A>G" "r.(?)" "p.(Ile4283Val)" "" "0000533969" "00016320" "30" "12928" "0" "12928" "0" "c.12928A>G" "r.(?)" "p.(Ile4310Val)" "" "0000533972" "00025657" "30" "12694" "0" "12694" "0" "c.12694T>C" "r.(?)" "p.(Phe4232Leu)" "" "0000533972" "00016320" "30" "12775" "0" "12775" "0" "c.12775T>C" "r.(?)" "p.(Phe4259Leu)" "" "0000533973" "00025657" "50" "12643" "0" "12643" "0" "c.12643G>A" "r.(?)" "p.(Asp4215Asn)" "" "0000533973" "00016320" "50" "12724" "0" "12724" "0" "c.12724G>A" "r.(?)" "p.(Asp4242Asn)" "" "0000533975" "00025657" "30" "12642" "0" "12642" "0" "c.12642C>T" "r.(?)" "p.(Ile4214=)" "" "0000533975" "00016320" "30" "12723" "0" "12723" "0" "c.12723C>T" "r.(?)" "p.(Ile4241=)" "" "0000533976" "00025657" "30" "12642" "0" "12642" "0" "c.12642C>T" "r.(?)" "p.(Ile4214=)" "" "0000533976" "00016320" "30" "12723" "0" "12723" "0" "c.12723C>T" "r.(?)" "p.(Ile4241=)" "" "0000533977" "00025657" "30" "12597" "0" "12597" "0" "c.12597C>T" "r.(?)" "p.(Ser4199=)" "" "0000533977" "00016320" "30" "12678" "0" "12678" "0" "c.12678C>T" "r.(?)" "p.(Ser4226=)" "" "0000533978" "00025657" "30" "12561" "0" "12561" "0" "c.12561C>T" "r.(?)" "p.(Asp4187=)" "" "0000533978" "00016320" "30" "12642" "0" "12642" "0" "c.12642C>T" "r.(?)" "p.(Asp4214=)" "" "0000533979" "00025657" "30" "12465" "0" "12465" "0" "c.12465C>T" "r.(?)" "p.(Tyr4155=)" "" "0000533979" "00016320" "30" "12546" "0" "12546" "0" "c.12546C>T" "r.(?)" "p.(Tyr4182=)" "" "0000533980" "00025657" "30" "12389" "0" "12389" "0" "c.12389C>T" "r.(?)" "p.(Thr4130Met)" "" "0000533980" "00016320" "30" "12470" "0" "12470" "0" "c.12470C>T" "r.(?)" "p.(Thr4157Met)" "" "0000533982" "00025657" "30" "12243" "0" "12243" "0" "c.12243C>T" "r.(?)" "p.(Thr4081=)" "" "0000533982" "00016320" "30" "12324" "0" "12324" "0" "c.12324C>T" "r.(?)" "p.(Thr4108=)" "" "0000533984" "00025657" "30" "12187" "0" "12187" "0" "c.12187G>A" "r.(?)" "p.(Val4063Met)" "" "0000533984" "00016320" "30" "12268" "0" "12268" "0" "c.12268G>A" "r.(?)" "p.(Val4090Met)" "" "0000533985" "00025657" "30" "11940" "0" "11940" "0" "c.11940C>T" "r.(?)" "p.(Ile3980=)" "" "0000533985" "00016320" "30" "12021" "0" "12021" "0" "c.12021C>T" "r.(?)" "p.(Ile4007=)" "" "0000533986" "00025657" "30" "11913" "0" "11913" "0" "c.11913G>A" "r.(?)" "p.(Ala3971=)" "" "0000533986" "00016320" "30" "11994" "0" "11994" "0" "c.11994G>A" "r.(?)" "p.(Ala3998=)" "" "0000533987" "00025657" "30" "11796" "0" "11796" "0" "c.11796C>T" "r.(?)" "p.(Thr3932=)" "" "0000533987" "00016320" "30" "11877" "0" "11877" "0" "c.11877C>T" "r.(?)" "p.(Thr3959=)" "" "0000533988" "00025657" "50" "11758" "0" "11758" "0" "c.11758G>C" "r.(?)" "p.(Glu3920Gln)" "" "0000533988" "00016320" "50" "11839" "0" "11839" "0" "c.11839G>C" "r.(?)" "p.(Glu3947Gln)" "" "0000533989" "00025657" "30" "11720" "0" "11720" "0" "c.11720C>T" "r.(?)" "p.(Thr3907Met)" "" "0000533989" "00016320" "30" "11801" "0" "11801" "0" "c.11801C>T" "r.(?)" "p.(Thr3934Met)" "" "0000533990" "00025657" "30" "11601" "0" "11601" "0" "c.11601C>T" "r.(?)" "p.(Asp3867=)" "" "0000533990" "00016320" "30" "11682" "0" "11682" "0" "c.11682C>T" "r.(?)" "p.(Asp3894=)" "" "0000533991" "00025657" "30" "11599" "0" "11599" "0" "c.11599G>C" "r.(?)" "p.(Asp3867His)" "" "0000533991" "00016320" "30" "11680" "0" "11680" "0" "c.11680G>C" "r.(?)" "p.(Asp3894His)" "" "0000533992" "00025657" "50" "11596" "0" "11596" "0" "c.11596C>T" "r.(?)" "p.(Arg3866Cys)" "" "0000533992" "00016320" "50" "11677" "0" "11677" "0" "c.11677C>T" "r.(?)" "p.(Arg3893Cys)" "" "0000533993" "00025657" "10" "11208" "0" "11208" "0" "c.11208G>A" "r.(?)" "p.(Pro3736=)" "" "0000533993" "00016320" "10" "11289" "0" "11289" "0" "c.11289G>A" "r.(?)" "p.(Pro3763=)" "" "0000533994" "00025657" "50" "11137" "0" "11137" "0" "c.11137G>A" "r.(?)" "p.(Gly3713Arg)" "" "0000533994" "00016320" "50" "11218" "0" "11218" "0" "c.11218G>A" "r.(?)" "p.(Gly3740Arg)" "" "0000533995" "00025657" "30" "11036" "0" "11036" "0" "c.11036C>T" "r.(?)" "p.(Ala3679Val)" "" "0000533995" "00016320" "30" "11117" "0" "11117" "0" "c.11117C>T" "r.(?)" "p.(Ala3706Val)" "" "0000533996" "00025657" "30" "10921" "0" "10921" "0" "c.10921G>A" "r.(?)" "p.(Asp3641Asn)" "" "0000533996" "00016320" "30" "11002" "0" "11002" "0" "c.11002G>A" "r.(?)" "p.(Asp3668Asn)" "" "0000533997" "00025657" "50" "10834" "0" "10834" "0" "c.10834C>T" "r.(?)" "p.(Arg3612Trp)" "" "0000533997" "00016320" "50" "10915" "0" "10915" "0" "c.10915C>T" "r.(?)" "p.(Arg3639Trp)" "" "0000533998" "00025657" "30" "10830" "0" "10830" "0" "c.10830C>T" "r.(?)" "p.(Ala3610=)" "" "0000533998" "00016320" "30" "10911" "0" "10911" "0" "c.10911C>T" "r.(?)" "p.(Ala3637=)" "" "0000534000" "00025657" "30" "10338" "0" "10338" "0" "c.10338C>T" "r.(?)" "p.(Ser3446=)" "" "0000534000" "00016320" "30" "10419" "0" "10419" "0" "c.10419C>T" "r.(?)" "p.(Ser3473=)" "" "0000534001" "00025657" "50" "10286" "0" "10286" "0" "c.10286C>T" "r.(?)" "p.(Ala3429Val)" "" "0000534001" "00016320" "50" "10367" "0" "10367" "0" "c.10367C>T" "r.(?)" "p.(Ala3456Val)" "" "0000534002" "00025657" "50" "10207" "0" "10207" "0" "c.10207C>T" "r.(?)" "p.(Arg3403Trp)" "" "0000534002" "00016320" "50" "10288" "0" "10288" "0" "c.10288C>T" "r.(?)" "p.(Arg3430Trp)" "" "0000534004" "00025657" "50" "10058" "0" "10058" "0" "c.10058G>C" "r.(?)" "p.(Gly3353Ala)" "" "0000534004" "00016320" "50" "10139" "0" "10139" "0" "c.10139G>C" "r.(?)" "p.(Gly3380Ala)" "" "0000534005" "00025657" "30" "10058" "0" "10058" "0" "c.10058G>C" "r.(?)" "p.(Gly3353Ala)" "" "0000534005" "00016320" "30" "10139" "0" "10139" "0" "c.10139G>C" "r.(?)" "p.(Gly3380Ala)" "" "0000534006" "00025657" "30" "10058" "0" "10058" "0" "c.10058G>C" "r.(?)" "p.(Gly3353Ala)" "" "0000534006" "00016320" "30" "10139" "0" "10139" "0" "c.10139G>C" "r.(?)" "p.(Gly3380Ala)" "" "0000534008" "00025657" "30" "10014" "0" "10014" "0" "c.10014C>T" "r.(?)" "p.(Val3338=)" "" "0000534008" "00016320" "30" "10095" "0" "10095" "0" "c.10095C>T" "r.(?)" "p.(Val3365=)" "" "0000534010" "00025657" "30" "9961" "0" "9961" "0" "c.9961G>A" "r.(?)" "p.(Gly3321Arg)" "" "0000534010" "00016320" "30" "10042" "0" "10042" "0" "c.10042G>A" "r.(?)" "p.(Gly3348Arg)" "" "0000534012" "00025657" "50" "9925" "0" "9925" "0" "c.9925C>T" "r.(?)" "p.(Arg3309Cys)" "" "0000534012" "00016320" "50" "10006" "0" "10006" "0" "c.10006C>T" "r.(?)" "p.(Arg3336Cys)" "" "0000534013" "00025657" "30" "9925" "0" "9925" "0" "c.9925C>T" "r.(?)" "p.(Arg3309Cys)" "" "0000534013" "00016320" "30" "10006" "0" "10006" "0" "c.10006C>T" "r.(?)" "p.(Arg3336Cys)" "" "0000534014" "00025657" "30" "9925" "0" "9925" "0" "c.9925C>T" "r.(?)" "p.(Arg3309Cys)" "" "0000534014" "00016320" "30" "10006" "0" "10006" "0" "c.10006C>T" "r.(?)" "p.(Arg3336Cys)" "" "0000534016" "00025657" "50" "9841" "0" "9841" "0" "c.9841G>A" "r.(?)" "p.(Val3281Met)" "" "0000534016" "00016320" "50" "9922" "0" "9922" "0" "c.9922G>A" "r.(?)" "p.(Val3308Met)" "" "0000534017" "00025657" "30" "9814" "0" "9814" "0" "c.9814C>T" "r.(?)" "p.(Arg3272Cys)" "" "0000534017" "00016320" "30" "9895" "0" "9895" "0" "c.9895C>T" "r.(?)" "p.(Arg3299Cys)" "" "0000534018" "00025657" "30" "9777" "0" "9777" "0" "c.9777T>A" "r.(?)" "p.(Ser3259=)" "" "0000534018" "00016320" "30" "9858" "0" "9858" "0" "c.9858T>A" "r.(?)" "p.(Ser3286=)" "" "0000534020" "00025657" "30" "9532" "0" "9532" "0" "c.9532G>A" "r.(?)" "p.(Ala3178Thr)" "" "0000534020" "00016320" "30" "9613" "0" "9613" "0" "c.9613G>A" "r.(?)" "p.(Ala3205Thr)" "" "0000534021" "00025657" "30" "9439" "0" "9439" "0" "c.9439A>G" "r.(?)" "p.(Ser3147Gly)" "" "0000534021" "00016320" "30" "9520" "0" "9520" "0" "c.9520A>G" "r.(?)" "p.(Ser3174Gly)" "" "0000534022" "00025657" "10" "9435" "0" "9435" "0" "c.9435C>T" "r.(?)" "p.(Asp3145=)" "" "0000534022" "00016320" "10" "9516" "0" "9516" "0" "c.9516C>T" "r.(?)" "p.(Asp3172=)" "" "0000534023" "00025657" "30" "9171" "0" "9171" "0" "c.9171G>T" "r.(?)" "p.(Leu3057=)" "" "0000534023" "00016320" "30" "9252" "0" "9252" "0" "c.9252G>T" "r.(?)" "p.(Leu3084=)" "" "0000534024" "00025657" "50" "9081" "0" "9081" "0" "c.9081G>A" "r.(?)" "p.(Ala3027=)" "" "0000534024" "00016320" "50" "9162" "0" "9162" "0" "c.9162G>A" "r.(?)" "p.(Ala3054=)" "" "0000534025" "00025657" "10" "9073" "0" "9073" "0" "c.9073G>A" "r.(?)" "p.(Val3025Ile)" "" "0000534025" "00016320" "10" "9154" "0" "9154" "0" "c.9154G>A" "r.(?)" "p.(Val3052Ile)" "" "0000534026" "00025657" "50" "9049" "0" "9049" "0" "c.9049C>T" "r.(?)" "p.(Arg3017Trp)" "" "0000534026" "00016320" "50" "9130" "0" "9130" "0" "c.9130C>T" "r.(?)" "p.(Arg3044Trp)" "" "0000534027" "00025657" "30" "8976" "0" "8976" "0" "c.8976C>T" "r.(?)" "p.(Ile2992=)" "" "0000534027" "00016320" "30" "9057" "0" "9057" "0" "c.9057C>T" "r.(?)" "p.(Ile3019=)" "" "0000534028" "00025657" "30" "8877" "0" "8877" "0" "c.8877C>A" "r.(?)" "p.(Ile2959=)" "" "0000534028" "00016320" "30" "8958" "0" "8958" "0" "c.8958C>A" "r.(?)" "p.(Ile2986=)" "" "0000534029" "00025657" "30" "8820" "0" "8820" "0" "c.8820C>G" "r.(?)" "p.(Asp2940Glu)" "" "0000534029" "00016320" "30" "8901" "0" "8901" "0" "c.8901C>G" "r.(?)" "p.(Asp2967Glu)" "" "0000534030" "00025657" "30" "8762" "0" "8762" "0" "c.8762C>T" "r.(?)" "p.(Thr2921Met)" "" "0000534030" "00016320" "30" "8843" "0" "8843" "0" "c.8843C>T" "r.(?)" "p.(Thr2948Met)" "" "0000534032" "00025657" "30" "8697" "0" "8697" "0" "c.8697C>T" "r.(?)" "p.(Ser2899=)" "" "0000534032" "00016320" "30" "8778" "0" "8778" "0" "c.8778C>T" "r.(?)" "p.(Ser2926=)" "" "0000534033" "00025657" "50" "8630" "0" "8630" "0" "c.8630C>T" "r.(?)" "p.(Thr2877Met)" "" "0000534033" "00016320" "50" "8711" "0" "8711" "0" "c.8711C>T" "r.(?)" "p.(Thr2904Met)" "" "0000534035" "00025657" "30" "8509" "0" "8509" "0" "c.8509G>A" "r.(?)" "p.(Glu2837Lys)" "" "0000534035" "00016320" "30" "8590" "0" "8590" "0" "c.8590G>A" "r.(?)" "p.(Glu2864Lys)" "" "0000534036" "00025657" "30" "8506" "0" "8506" "0" "c.8506G>A" "r.(?)" "p.(Asp2836Asn)" "" "0000534036" "00016320" "30" "8587" "0" "8587" "0" "c.8587G>A" "r.(?)" "p.(Asp2863Asn)" "" "0000534037" "00025657" "50" "8497" "0" "8497" "0" "c.8497G>A" "r.(?)" "p.(Gly2833Ser)" "" "0000534037" "00016320" "50" "8578" "0" "8578" "0" "c.8578G>A" "r.(?)" "p.(Gly2860Ser)" "" "0000534038" "00025657" "30" "8470" "0" "8470" "0" "c.8470G>A" "r.(?)" "p.(Val2824Met)" "" "0000534038" "00016320" "30" "8551" "0" "8551" "0" "c.8551G>A" "r.(?)" "p.(Val2851Met)" "" "0000534039" "00025657" "50" "8334" "0" "8334" "0" "c.8334G>C" "r.(?)" "p.(Lys2778Asn)" "" "0000534039" "00016320" "50" "8415" "0" "8415" "0" "c.8415G>C" "r.(?)" "p.(Lys2805Asn)" "" "0000534040" "00025657" "30" "8319" "0" "8319" "0" "c.8319C>T" "r.(?)" "p.(Ala2773=)" "" "0000534040" "00016320" "30" "8400" "0" "8400" "0" "c.8400C>T" "r.(?)" "p.(Ala2800=)" "" "0000534042" "00025657" "50" "7951" "0" "7951" "0" "c.7951C>T" "r.(?)" "p.(Arg2651Trp)" "" "0000534042" "00016320" "50" "8032" "0" "8032" "0" "c.8032C>T" "r.(?)" "p.(Arg2678Trp)" "" "0000534043" "00025657" "30" "7951" "0" "7951" "0" "c.7951C>T" "r.(?)" "p.(Arg2651Trp)" "" "0000534043" "00016320" "30" "8032" "0" "8032" "0" "c.8032C>T" "r.(?)" "p.(Arg2678Trp)" "" "0000534044" "00025657" "30" "7939" "0" "7939" "0" "c.7939G>A" "r.(?)" "p.(Asp2647Asn)" "" "0000534044" "00016320" "30" "8020" "0" "8020" "0" "c.8020G>A" "r.(?)" "p.(Asp2674Asn)" "" "0000534045" "00025657" "30" "7726" "0" "7726" "0" "c.7726C>T" "r.(?)" "p.(Leu2576=)" "" "0000534045" "00016320" "30" "7807" "0" "7807" "0" "c.7807C>T" "r.(?)" "p.(Leu2603=)" "" "0000534046" "00025657" "30" "7703" "0" "7703" "0" "c.7703G>A" "r.(?)" "p.(Arg2568His)" "" "0000534046" "00016320" "30" "7784" "0" "7784" "0" "c.7784G>A" "r.(?)" "p.(Arg2595His)" "" "0000534048" "00025657" "50" "7669" "0" "7669" "0" "c.7669C>T" "r.(?)" "p.(Arg2557Trp)" "" "0000534048" "00016320" "50" "7750" "0" "7750" "0" "c.7750C>T" "r.(?)" "p.(Arg2584Trp)" "" "0000534049" "00025657" "30" "7311" "0" "7311" "0" "c.7311G>A" "r.(?)" "p.(Gln2437=)" "" "0000534049" "00016320" "30" "7392" "0" "7392" "0" "c.7392G>A" "r.(?)" "p.(Gln2464=)" "" "0000534050" "00025657" "30" "7267" "0" "7267" "0" "c.7267G>A" "r.(?)" "p.(Ala2423Thr)" "" "0000534050" "00016320" "30" "7348" "0" "7348" "0" "c.7348G>A" "r.(?)" "p.(Ala2450Thr)" "" "0000534052" "00025657" "50" "7121" "0" "7121" "0" "c.7121G>A" "r.(?)" "p.(Arg2374Gln)" "" "0000534052" "00016320" "50" "7202" "0" "7202" "0" "c.7202G>A" "r.(?)" "p.(Arg2401Gln)" "" "0000534053" "00025657" "50" "7121" "0" "7121" "0" "c.7121G>A" "r.(?)" "p.(Arg2374Gln)" "" "0000534053" "00016320" "50" "7202" "0" "7202" "0" "c.7202G>A" "r.(?)" "p.(Arg2401Gln)" "" "0000534054" "00025657" "50" "7100" "0" "7100" "0" "c.7100C>T" "r.(?)" "p.(Thr2367Met)" "" "0000534054" "00016320" "50" "7181" "0" "7181" "0" "c.7181C>T" "r.(?)" "p.(Thr2394Met)" "" "0000534056" "00025657" "30" "6786" "0" "6786" "0" "c.6786G>A" "r.(?)" "p.(Thr2262=)" "" "0000534056" "00016320" "30" "6867" "0" "6867" "0" "c.6867G>A" "r.(?)" "p.(Thr2289=)" "" "0000534057" "00025657" "30" "6661" "0" "6661" "0" "c.6661C>T" "r.(?)" "p.(Arg2221Cys)" "" "0000534057" "00016320" "30" "6742" "0" "6742" "0" "c.6742C>T" "r.(?)" "p.(Arg2248Cys)" "" "0000534058" "00025657" "50" "6545" "0" "6545" "0" "c.6545C>T" "r.(?)" "p.(Ala2182Val)" "" "0000534058" "00016320" "50" "6626" "0" "6626" "0" "c.6626C>T" "r.(?)" "p.(Ala2209Val)" "" "0000534059" "00025657" "90" "6526" "0" "6526" "0" "c.6526C>T" "r.(?)" "p.(Gln2176Ter)" "" "0000534059" "00016320" "90" "6607" "0" "6607" "0" "c.6607C>T" "r.(?)" "p.(Gln2203Ter)" "" "0000534060" "00025657" "30" "6520" "0" "6520" "0" "c.6520G>A" "r.(?)" "p.(Ala2174Thr)" "" "0000534060" "00016320" "30" "6601" "0" "6601" "0" "c.6601G>A" "r.(?)" "p.(Ala2201Thr)" "" "0000534061" "00025657" "30" "6519" "0" "6519" "0" "c.6519C>G" "r.(?)" "p.(Phe2173Leu)" "" "0000534061" "00016320" "30" "6600" "0" "6600" "0" "c.6600C>G" "r.(?)" "p.(Phe2200Leu)" "" "0000534063" "00025657" "30" "6486" "0" "6486" "0" "c.6486A>C" "r.(?)" "p.(Ala2162=)" "" "0000534063" "00016320" "30" "6567" "0" "6567" "0" "c.6567A>C" "r.(?)" "p.(Ala2189=)" "" "0000534064" "00025657" "30" "6426" "0" "6426" "0" "c.6426C>T" "r.(?)" "p.(Ala2142=)" "" "0000534064" "00016320" "30" "6507" "0" "6507" "0" "c.6507C>T" "r.(?)" "p.(Ala2169=)" "" "0000534067" "00025657" "50" "6278" "0" "6278" "0" "c.6278C>T" "r.(?)" "p.(Ala2093Val)" "" "0000534067" "00016320" "50" "6359" "0" "6359" "0" "c.6359C>T" "r.(?)" "p.(Ala2120Val)" "" "0000534068" "00025657" "50" "6278" "0" "6278" "0" "c.6278C>T" "r.(?)" "p.(Ala2093Val)" "" "0000534068" "00016320" "50" "6359" "0" "6359" "0" "c.6359C>T" "r.(?)" "p.(Ala2120Val)" "" "0000534069" "00025657" "30" "6262" "0" "6262" "0" "c.6262C>T" "r.(?)" "p.(Arg2088Trp)" "" "0000534069" "00016320" "30" "6343" "0" "6343" "0" "c.6343C>T" "r.(?)" "p.(Arg2115Trp)" "" "0000534070" "00025657" "30" "6259" "0" "6259" "0" "c.6259C>T" "r.(?)" "p.(Arg2087Trp)" "" "0000534070" "00016320" "30" "6340" "0" "6340" "0" "c.6340C>T" "r.(?)" "p.(Arg2114Trp)" "" "0000534072" "00025657" "50" "6062" "0" "6062" "0" "c.6062C>T" "r.(?)" "p.(Ala2021Val)" "" "0000534072" "00016320" "50" "6143" "0" "6143" "0" "c.6143C>T" "r.(?)" "p.(Ala2048Val)" "" "0000534074" "00025657" "50" "5927" "0" "5927" "0" "c.5927C>T" "r.(?)" "p.(Ala1976Val)" "" "0000534074" "00016320" "50" "6008" "0" "6008" "0" "c.6008C>T" "r.(?)" "p.(Ala2003Val)" "" "0000534075" "00025657" "10" "5907" "0" "5907" "0" "c.5907T>C" "r.(?)" "p.(Ala1969=)" "" "0000534075" "00016320" "10" "5988" "0" "5988" "0" "c.5988T>C" "r.(?)" "p.(Ala1996=)" "" "0000534077" "00025657" "30" "5865" "0" "5865" "0" "c.5865G>A" "r.(?)" "p.(Ala1955=)" "" "0000534077" "00016320" "30" "5946" "0" "5946" "0" "c.5946G>A" "r.(?)" "p.(Ala1982=)" "" "0000534079" "00025657" "30" "5673" "0" "5673" "0" "c.5673C>T" "r.(?)" "p.(Ile1891=)" "" "0000534079" "00016320" "30" "5754" "0" "5754" "0" "c.5754C>T" "r.(?)" "p.(Ile1918=)" "" "0000534080" "00025657" "10" "5476" "0" "5476" "0" "c.5476C>T" "r.(?)" "p.(Arg1826Trp)" "" "0000534080" "00016320" "10" "5557" "0" "5557" "0" "c.5557C>T" "r.(?)" "p.(Arg1853Trp)" "" "0000534081" "00025657" "50" "5444" "0" "5444" "0" "c.5444G>A" "r.(?)" "p.(Arg1815Gln)" "" "0000534081" "00016320" "50" "5525" "0" "5525" "0" "c.5525G>A" "r.(?)" "p.(Arg1842Gln)" "" "0000534082" "00025657" "30" "5414" "0" "5414" "0" "c.5414G>A" "r.(?)" "p.(Arg1805His)" "" "0000534082" "00016320" "30" "5495" "0" "5495" "0" "c.5495G>A" "r.(?)" "p.(Arg1832His)" "" "0000534083" "00025657" "50" "5391" "0" "5391" "0" "c.5391C>T" "r.(?)" "p.(Arg1797=)" "" "0000534083" "00016320" "50" "5472" "0" "5472" "0" "c.5472C>T" "r.(?)" "p.(Arg1824=)" "" "0000534085" "00025657" "30" "5230" "0" "5230" "0" "c.5230G>A" "r.(?)" "p.(Ala1744Thr)" "" "0000534085" "00016320" "30" "5311" "0" "5311" "0" "c.5311G>A" "r.(?)" "p.(Ala1771Thr)" "" "0000534086" "00025657" "50" "5023" "0" "5023" "0" "c.5023C>T" "r.(?)" "p.(Arg1675Trp)" "" "0000534086" "00016320" "50" "5104" "0" "5104" "0" "c.5104C>T" "r.(?)" "p.(Arg1702Trp)" "" "0000534087" "00025657" "50" "5011" "0" "5011" "0" "c.5011C>T" "r.(?)" "p.(Arg1671Cys)" "" "0000534087" "00016320" "50" "5092" "0" "5092" "0" "c.5092C>T" "r.(?)" "p.(Arg1698Cys)" "" "0000534089" "00025657" "50" "4855" "0" "4855" "0" "c.4855G>A" "r.(?)" "p.(Glu1619Lys)" "" "0000534089" "00016320" "50" "4936" "0" "4936" "0" "c.4936G>A" "r.(?)" "p.(Glu1646Lys)" "" "0000534090" "00025657" "30" "4833" "0" "4833" "0" "c.4833G>A" "r.(?)" "p.(Glu1611=)" "" "0000534090" "00016320" "30" "4914" "0" "4914" "0" "c.4914G>A" "r.(?)" "p.(Glu1638=)" "" "0000534091" "00025657" "50" "4795" "0" "4795" "0" "c.4795G>C" "r.(?)" "p.(Glu1599Gln)" "" "0000534091" "00016320" "50" "4876" "0" "4876" "0" "c.4876G>C" "r.(?)" "p.(Glu1626Gln)" "" "0000534092" "00025657" "30" "4644" "0" "4644" "0" "c.4644G>A" "r.(?)" "p.(Ala1548=)" "" "0000534092" "00016320" "30" "4725" "0" "4725" "0" "c.4725G>A" "r.(?)" "p.(Ala1575=)" "" "0000534093" "00025657" "10" "4635" "0" "4635" "0" "c.4635G>A" "r.(?)" "p.(Ala1545=)" "" "0000534093" "00016320" "10" "4716" "0" "4716" "0" "c.4716G>A" "r.(?)" "p.(Ala1572=)" "" "0000534094" "00025657" "30" "4556" "0" "4556" "0" "c.4556C>T" "r.(?)" "p.(Ser1519Leu)" "" "0000534094" "00016320" "30" "4637" "0" "4637" "0" "c.4637C>T" "r.(?)" "p.(Ser1546Leu)" "" "0000534096" "00025657" "30" "4312" "0" "4312" "0" "c.4312C>T" "r.(?)" "p.(Arg1438Trp)" "" "0000534096" "00016320" "30" "4393" "0" "4393" "0" "c.4393C>T" "r.(?)" "p.(Arg1465Trp)" "" "0000534097" "00025657" "50" "4223" "0" "4223" "0" "c.4223C>T" "r.(?)" "p.(Ala1408Val)" "" "0000534097" "00016320" "50" "4304" "0" "4304" "0" "c.4304C>T" "r.(?)" "p.(Ala1435Val)" "" "0000534099" "00025657" "30" "4076" "0" "4076" "0" "c.4076G>A" "r.(?)" "p.(Arg1359His)" "" "0000534099" "00016320" "30" "4157" "0" "4157" "0" "c.4157G>A" "r.(?)" "p.(Arg1386His)" "" "0000534103" "00025657" "50" "3863" "0" "3863" "0" "c.3863C>T" "r.(?)" "p.(Thr1288Met)" "" "0000534103" "00016320" "50" "3944" "0" "3944" "0" "c.3944C>T" "r.(?)" "p.(Thr1315Met)" "" "0000534105" "00025657" "30" "3757" "-9" "3757" "-9" "c.3757-9A>G" "r.(=)" "p.(=)" "" "0000534105" "00016320" "30" "3838" "-9" "3838" "-9" "c.3838-9A>G" "r.(=)" "p.(=)" "" "0000534107" "00025657" "30" "3717" "0" "3717" "0" "c.3717C>T" "r.(?)" "p.(Ala1239=)" "" "0000534107" "00016320" "30" "3798" "0" "3798" "0" "c.3798C>T" "r.(?)" "p.(Ala1266=)" "" "0000534109" "00025657" "30" "3543" "0" "3543" "0" "c.3543C>T" "r.(?)" "p.(Val1181=)" "" "0000534109" "00016320" "30" "3624" "0" "3624" "0" "c.3624C>T" "r.(?)" "p.(Val1208=)" "" "0000534110" "00025657" "50" "3460" "0" "3460" "0" "c.3460C>T" "r.(?)" "p.(Arg1154Trp)" "" "0000534110" "00016320" "50" "3541" "0" "3541" "0" "c.3541C>T" "r.(?)" "p.(Arg1181Trp)" "" "0000534111" "00025657" "30" "3378" "0" "3378" "0" "c.3378G>A" "r.(?)" "p.(Glu1126=)" "" "0000534111" "00016320" "30" "3459" "0" "3459" "0" "c.3459G>A" "r.(?)" "p.(Glu1153=)" "" "0000534112" "00025657" "30" "3368" "0" "3368" "0" "c.3368C>T" "r.(?)" "p.(Pro1123Leu)" "" "0000534112" "00016320" "30" "3449" "0" "3449" "0" "c.3449C>T" "r.(?)" "p.(Pro1150Leu)" "" "0000534113" "00025657" "30" "3351" "0" "3351" "0" "c.3351C>T" "r.(?)" "p.(Ala1117=)" "" "0000534113" "00016320" "30" "3432" "0" "3432" "0" "c.3432C>T" "r.(?)" "p.(Ala1144=)" "" "0000534114" "00025657" "30" "3261" "-11" "3261" "-11" "c.3261-11T>C" "r.(=)" "p.(=)" "" "0000534114" "00016320" "30" "3342" "-11" "3342" "-11" "c.3342-11T>C" "r.(=)" "p.(=)" "" "0000534115" "00025657" "30" "3261" "-13" "3261" "-13" "c.3261-13G>A" "r.(=)" "p.(=)" "" "0000534115" "00016320" "30" "3342" "-13" "3342" "-13" "c.3342-13G>A" "r.(=)" "p.(=)" "" "0000534117" "00025657" "50" "3028" "0" "3033" "0" "c.3028_3033dup" "r.(?)" "p.(Pro1010_Leu1011dup)" "" "0000534117" "00016320" "50" "3109" "0" "3114" "0" "c.3109_3114dup" "r.(?)" "p.(Pro1037_Leu1038dup)" "" "0000534118" "00025657" "30" "2978" "0" "2978" "0" "c.2978G>A" "r.(?)" "p.(Arg993Gln)" "" "0000534118" "00016320" "30" "3059" "0" "3059" "0" "c.3059G>A" "r.(?)" "p.(Arg1020Gln)" "" "0000534119" "00025657" "30" "2961" "0" "2961" "0" "c.2961C>T" "r.(?)" "p.(Ser987=)" "" "0000534119" "00016320" "30" "3042" "0" "3042" "0" "c.3042C>T" "r.(?)" "p.(Ser1014=)" "" "0000534120" "00025657" "30" "2961" "0" "2961" "0" "c.2961C>T" "r.(?)" "p.(Ser987=)" "" "0000534120" "00016320" "30" "3042" "0" "3042" "0" "c.3042C>T" "r.(?)" "p.(Ser1014=)" "" "0000534121" "00025657" "50" "2950" "0" "2950" "0" "c.2950C>T" "r.(?)" "p.(Arg984Cys)" "" "0000534121" "00016320" "50" "3031" "0" "3031" "0" "c.3031C>T" "r.(?)" "p.(Arg1011Cys)" "" "0000534122" "00025657" "50" "2827" "0" "2827" "0" "c.2827G>A" "r.(?)" "p.(Ala943Thr)" "" "0000534122" "00016320" "50" "2908" "0" "2908" "0" "c.2908G>A" "r.(?)" "p.(Ala970Thr)" "" "0000534123" "00025657" "30" "2658" "0" "2658" "0" "c.2658G>A" "r.(?)" "p.(Leu886=)" "" "0000534123" "00016320" "30" "2739" "0" "2739" "0" "c.2739G>A" "r.(?)" "p.(Leu913=)" "" "0000534124" "00025657" "30" "2613" "-7" "2613" "-7" "c.2613-7C>A" "r.(=)" "p.(=)" "" "0000534124" "00016320" "30" "2694" "-7" "2694" "-7" "c.2694-7C>A" "r.(=)" "p.(=)" "" "0000534125" "00025657" "30" "2551" "0" "2551" "0" "c.2551G>A" "r.(?)" "p.(Val851Met)" "" "0000534125" "00016320" "30" "2632" "0" "2632" "0" "c.2632G>A" "r.(?)" "p.(Val878Met)" "" "0000534126" "00025657" "30" "2498" "0" "2498" "0" "c.2498C>T" "r.(?)" "p.(Pro833Leu)" "" "0000534126" "00016320" "30" "2579" "0" "2579" "0" "c.2579C>T" "r.(?)" "p.(Pro860Leu)" "" "0000534128" "00025657" "30" "2337" "0" "2337" "0" "c.2337C>T" "r.(?)" "p.(Gly779=)" "" "0000534128" "00016320" "30" "2418" "0" "2418" "0" "c.2418C>T" "r.(?)" "p.(Gly806=)" "" "0000534129" "00025657" "10" "2304" "13" "2304" "13" "c.2304+13dup" "r.(=)" "p.(=)" "" "0000534129" "00016320" "10" "2385" "13" "2385" "13" "c.2385+13dup" "r.(=)" "p.(=)" "" "0000534130" "00025657" "30" "2217" "0" "2217" "0" "c.2217G>A" "r.(?)" "p.(Gln739=)" "" "0000534130" "00016320" "30" "2298" "0" "2298" "0" "c.2298G>A" "r.(?)" "p.(Gln766=)" "" "0000534131" "00025657" "30" "1957" "0" "1957" "0" "c.1957G>A" "r.(?)" "p.(Ala653Thr)" "" "0000534131" "00016320" "30" "2038" "0" "2038" "0" "c.2038G>A" "r.(?)" "p.(Ala680Thr)" "" "0000534132" "00025657" "50" "1873" "0" "1873" "0" "c.1873G>A" "r.(?)" "p.(Ala625Thr)" "" "0000534132" "00016320" "50" "1954" "0" "1954" "0" "c.1954G>A" "r.(?)" "p.(Ala652Thr)" "" "0000534133" "00025657" "30" "1693" "0" "1693" "0" "c.1693A>G" "r.(?)" "p.(Ile565Val)" "" "0000534133" "00016320" "30" "1774" "0" "1774" "0" "c.1774A>G" "r.(?)" "p.(Ile592Val)" "" "0000534135" "00025657" "30" "1418" "14" "1418" "14" "c.1418+14T>A" "r.(=)" "p.(=)" "" "0000534135" "00016320" "30" "1499" "14" "1499" "14" "c.1499+14T>A" "r.(=)" "p.(=)" "" "0000534136" "00025657" "30" "1418" "10" "1418" "10" "c.1418+10G>C" "r.(=)" "p.(=)" "" "0000534136" "00016320" "30" "1499" "10" "1499" "10" "c.1499+10G>C" "r.(=)" "p.(=)" "" "0000534137" "00025657" "50" "1301" "0" "1301" "0" "c.1301G>A" "r.(?)" "p.(Arg434Gln)" "" "0000534137" "00016320" "50" "1382" "0" "1382" "0" "c.1382G>A" "r.(?)" "p.(Arg461Gln)" "" "0000534140" "00025657" "30" "1263" "8" "1263" "8" "c.1263+8G>A" "r.(=)" "p.(=)" "" "0000534140" "00016320" "30" "1344" "8" "1344" "8" "c.1344+8G>A" "r.(=)" "p.(=)" "" "0000534142" "00025657" "30" "1263" "7" "1263" "7" "c.1263+7G>C" "r.(=)" "p.(=)" "" "0000534142" "00016320" "30" "1344" "7" "1344" "7" "c.1344+7G>C" "r.(=)" "p.(=)" "" "0000534144" "00025657" "50" "1086" "0" "1086" "0" "c.1086C>G" "r.(?)" "p.(His362Gln)" "" "0000534144" "00016320" "50" "1167" "0" "1167" "0" "c.1167C>G" "r.(?)" "p.(His389Gln)" "" "0000534146" "00025657" "30" "825" "0" "825" "0" "c.825C>T" "r.(?)" "p.(Asn275=)" "" "0000534146" "00016320" "30" "906" "0" "906" "0" "c.906C>T" "r.(?)" "p.(Asn302=)" "" "0000534147" "00025657" "30" "729" "0" "729" "0" "c.729C>T" "r.(?)" "p.(Val243=)" "" "0000534147" "00016320" "30" "810" "0" "810" "0" "c.810C>T" "r.(?)" "p.(Val270=)" "" "0000534148" "00025657" "50" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Trp)" "" "0000534148" "00016320" "50" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Arg239Trp)" "" "0000534150" "00025657" "30" "342" "13" "342" "13" "c.342+13G>A" "r.(=)" "p.(=)" "" "0000534150" "00016320" "30" "423" "13" "423" "13" "c.423+13G>A" "r.(=)" "p.(=)" "" "0000534151" "00025657" "50" "332" "0" "332" "0" "c.332G>A" "r.(?)" "p.(Arg111Gln)" "" "0000534151" "00016320" "50" "413" "0" "413" "0" "c.413G>A" "r.(?)" "p.(Arg138Gln)" "" "0000534152" "00025657" "30" "265" "-16" "265" "-16" "c.265-16C>G" "r.(=)" "p.(=)" "" "0000534152" "00016320" "30" "346" "-16" "346" "-16" "c.346-16C>G" "r.(=)" "p.(=)" "" "0000534154" "00025657" "30" "174" "10" "174" "10" "c.174+10G>A" "r.(=)" "p.(=)" "" "0000534154" "00016320" "30" "255" "10" "255" "10" "c.255+10G>A" "r.(=)" "p.(=)" "" "0000534155" "00025657" "30" "174" "10" "174" "10" "c.174+10del" "r.(=)" "p.(=)" "" "0000534155" "00016320" "30" "255" "10" "255" "10" "c.255+10del" "r.(=)" "p.(=)" "" "0000534156" "00025657" "50" "62" "0" "62" "0" "c.62C>T" "r.(?)" "p.(Ser21Leu)" "" "0000534156" "00016320" "50" "194" "-708" "194" "-708" "c.194-708C>T" "r.(=)" "p.(=)" "" "0000534157" "00025657" "30" "47" "0" "47" "0" "c.47G>A" "r.(?)" "p.(Arg16Gln)" "" "0000534157" "00016320" "30" "194" "-723" "194" "-723" "c.194-723G>A" "r.(=)" "p.(=)" "" "0000534158" "00025657" "30" "-2942" "0" "-2881" "0" "c.-2942_-2881del" "r.(?)" "p.(=)" "" "0000534158" "00016320" "30" "194" "-3711" "194" "-3650" "c.194-3711_194-3650del" "r.(=)" "p.(=)" "" "0000534161" "00025657" "30" "-10830" "0" "-10830" "0" "c.-10830T>C" "r.(?)" "p.(=)" "" "0000534161" "00016320" "30" "194" "-11599" "194" "-11599" "c.194-11599T>C" "r.(=)" "p.(=)" "" "0000534162" "00025657" "50" "-10941" "0" "-10941" "0" "c.-10941G>T" "r.(?)" "p.(=)" "" "0000534162" "00016320" "50" "194" "-11710" "194" "-11710" "c.194-11710G>T" "r.(=)" "p.(=)" "" "0000534163" "00025657" "50" "-10941" "0" "-10941" "0" "c.-10941G>T" "r.(?)" "p.(=)" "" "0000534163" "00016320" "50" "194" "-11710" "194" "-11710" "c.194-11710G>T" "r.(=)" "p.(=)" "" "0000534164" "00025657" "30" "-10949" "0" "-10949" "0" "c.-10949C>T" "r.(?)" "p.(=)" "" "0000534164" "00016320" "30" "194" "-11718" "194" "-11718" "c.194-11718C>T" "r.(=)" "p.(=)" "" "0000534165" "00025657" "30" "-35794" "0" "-35794" "0" "c.-35794A>G" "r.(?)" "p.(=)" "" "0000534165" "00016320" "30" "115" "0" "115" "0" "c.115A>G" "r.(?)" "p.(Ser39Gly)" "" "0000597301" "00016320" "50" "10513" "0" "10513" "0" "c.10513G>A" "r.(?)" "p.(Val3505Met)" "" "0000597302" "00016320" "50" "13589" "0" "13589" "0" "c.13589G>A" "r.(?)" "p.(Arg4530His)" "" "0000611497" "00025657" "30" "11594" "0" "11594" "0" "c.11594G>A" "r.(?)" "p.(Arg3865His)" "" "0000611497" "00016320" "30" "11675" "0" "11675" "0" "c.11675G>A" "r.(?)" "p.(Arg3892His)" "" "0000611498" "00025657" "10" "11208" "0" "11208" "0" "c.11208G>A" "r.(?)" "p.(Pro3736=)" "" "0000611498" "00016320" "10" "11289" "0" "11289" "0" "c.11289G>A" "r.(?)" "p.(Pro3763=)" "" "0000611499" "00025657" "30" "9580" "0" "9580" "0" "c.9580G>A" "r.(?)" "p.(Glu3194Lys)" "" "0000611499" "00016320" "30" "9661" "0" "9661" "0" "c.9661G>A" "r.(?)" "p.(Glu3221Lys)" "" "0000611500" "00025657" "50" "9080" "0" "9080" "0" "c.9080C>T" "r.(?)" "p.(Ala3027Val)" "" "0000611500" "00016320" "50" "9161" "0" "9161" "0" "c.9161C>T" "r.(?)" "p.(Ala3054Val)" "" "0000611501" "00025657" "30" "8977" "0" "8977" "0" "c.8977G>A" "r.(?)" "p.(Asp2993Asn)" "" "0000611501" "00016320" "30" "9058" "0" "9058" "0" "c.9058G>A" "r.(?)" "p.(Asp3020Asn)" "" "0000611503" "00025657" "50" "6243" "0" "6243" "0" "c.6243C>T" "r.(?)" "p.(Gly2081=)" "" "0000611503" "00016320" "50" "6324" "0" "6324" "0" "c.6324C>T" "r.(?)" "p.(Gly2108=)" "" "0000611504" "00025657" "50" "5122" "0" "5122" "0" "c.5122C>T" "r.(?)" "p.(Arg1708Cys)" "" "0000611504" "00016320" "50" "5203" "0" "5203" "0" "c.5203C>T" "r.(?)" "p.(Arg1735Cys)" "" "0000611505" "00025657" "30" "4820" "0" "4820" "0" "c.4820G>A" "r.(?)" "p.(Arg1607Gln)" "" "0000611505" "00016320" "30" "4901" "0" "4901" "0" "c.4901G>A" "r.(?)" "p.(Arg1634Gln)" "" "0000611506" "00025657" "50" "4558" "0" "4558" "0" "c.4558C>T" "r.(?)" "p.(Arg1520Cys)" "" "0000611506" "00016320" "50" "4639" "0" "4639" "0" "c.4639C>T" "r.(?)" "p.(Arg1547Cys)" "" "0000611507" "00025657" "30" "4366" "0" "4366" "0" "c.4366G>A" "r.(?)" "p.(Val1456Met)" "" "0000611507" "00016320" "30" "4447" "0" "4447" "0" "c.4447G>A" "r.(?)" "p.(Val1483Met)" "" "0000611508" "00025657" "30" "3873" "0" "3873" "0" "c.3873G>A" "r.(?)" "p.(Ala1291=)" "" "0000611508" "00016320" "30" "3954" "0" "3954" "0" "c.3954G>A" "r.(?)" "p.(Ala1318=)" "" "0000611509" "00025657" "30" "3045" "0" "3045" "0" "c.3045G>A" "r.(?)" "p.(Pro1015=)" "" "0000611509" "00016320" "30" "3126" "0" "3126" "0" "c.3126G>A" "r.(?)" "p.(Pro1042=)" "" "0000611510" "00025657" "50" "2819" "0" "2819" "0" "c.2819G>A" "r.(?)" "p.(Ser940Asn)" "" "0000611510" "00016320" "50" "2900" "0" "2900" "0" "c.2900G>A" "r.(?)" "p.(Ser967Asn)" "" "0000611511" "00025657" "30" "1629" "0" "1629" "0" "c.1629G>T" "r.(?)" "p.(Glu543Asp)" "" "0000611511" "00016320" "30" "1710" "0" "1710" "0" "c.1710G>T" "r.(?)" "p.(Glu570Asp)" "" "0000611512" "00025657" "50" "1459" "0" "1459" "0" "c.1459G>A" "r.(?)" "p.(Glu487Lys)" "" "0000611512" "00016320" "50" "1540" "0" "1540" "0" "c.1540G>A" "r.(?)" "p.(Glu514Lys)" "" "0000611513" "00025657" "30" "174" "10" "174" "10" "c.174+10del" "r.(=)" "p.(=)" "" "0000611513" "00016320" "30" "255" "10" "255" "10" "c.255+10del" "r.(=)" "p.(=)" "" "0000611514" "00025657" "30" "-10808" "0" "-10808" "0" "c.-10808G>A" "r.(?)" "p.(=)" "" "0000611514" "00016320" "30" "194" "-11577" "194" "-11577" "c.194-11577G>A" "r.(=)" "p.(=)" "" "0000622010" "00025657" "30" "10499" "0" "10499" "0" "c.10499G>A" "r.(?)" "p.(Arg3500His)" "" "0000622010" "00016320" "30" "10580" "0" "10580" "0" "c.10580G>A" "r.(?)" "p.(Arg3527His)" "" "0000622013" "00025657" "50" "5024" "0" "5024" "0" "c.5024G>A" "r.(?)" "p.(Arg1675Gln)" "" "0000622013" "00016320" "50" "5105" "0" "5105" "0" "c.5105G>A" "r.(?)" "p.(Arg1702Gln)" "" "0000622014" "00025657" "30" "2458" "-7" "2458" "-7" "c.2458-7G>A" "r.(=)" "p.(=)" "" "0000622014" "00016320" "30" "2539" "-7" "2539" "-7" "c.2539-7G>A" "r.(=)" "p.(=)" "" "0000622015" "00025657" "30" "2325" "0" "2325" "0" "c.2325C>T" "r.(?)" "p.(Asn775=)" "" "0000622015" "00016320" "30" "2406" "0" "2406" "0" "c.2406C>T" "r.(?)" "p.(Asn802=)" "" "0000622016" "00025657" "30" "798" "0" "798" "0" "c.798G>A" "r.(?)" "p.(Pro266=)" "" "0000622016" "00016320" "30" "879" "0" "879" "0" "c.879G>A" "r.(?)" "p.(Pro293=)" "" "0000622018" "00025657" "30" "-11155" "0" "-11155" "0" "c.-11155C>T" "r.(?)" "p.(=)" "" "0000622018" "00016320" "30" "194" "-11924" "194" "-11924" "c.194-11924C>T" "r.(=)" "p.(=)" "" "0000652442" "00025657" "10" "13205" "0" "13205" "0" "c.13205C>T" "r.(?)" "p.(Thr4402Met)" "" "0000652442" "00016320" "10" "13286" "0" "13286" "0" "c.13286C>T" "r.(?)" "p.(Thr4429Met)" "" "0000652443" "00025657" "10" "10986" "0" "10986" "0" "c.10986C>T" "r.(=)" "p.(=)" "" "0000652443" "00016320" "10" "11067" "0" "11067" "0" "c.11067C>T" "r.(=)" "p.(=)" "" "0000652444" "00025657" "10" "8050" "0" "8050" "0" "c.8050C>T" "r.(?)" "p.(Arg2684Trp)" "" "0000652444" "00016320" "10" "8131" "0" "8131" "0" "c.8131C>T" "r.(?)" "p.(Arg2711Trp)" "" "0000652445" "00025657" "50" "5873" "0" "5873" "0" "c.5873C>T" "r.(?)" "p.(Thr1958Met)" "" "0000652445" "00016320" "50" "5954" "0" "5954" "0" "c.5954C>T" "r.(?)" "p.(Thr1985Met)" "" "0000652446" "00025657" "50" "5521" "0" "5521" "0" "c.5521G>A" "r.(?)" "p.(Ala1841Thr)" "" "0000652446" "00016320" "50" "5602" "0" "5602" "0" "c.5602G>A" "r.(?)" "p.(Ala1868Thr)" "" "0000652447" "00025657" "10" "1706" "0" "1706" "0" "c.1706G>A" "r.(?)" "p.(Arg569Gln)" "" "0000652447" "00016320" "10" "1787" "0" "1787" "0" "c.1787G>A" "r.(?)" "p.(Arg596Gln)" "" "0000652448" "00025657" "10" "718" "10" "718" "10" "c.718+10C>T" "r.(=)" "p.(=)" "" "0000652448" "00016320" "10" "799" "10" "799" "10" "c.799+10C>T" "r.(=)" "p.(=)" "" "0000656011" "00025657" "30" "13534" "0" "13534" "0" "c.13534G>A" "r.(?)" "p.(Gly4512Ser)" "" "0000656011" "00016320" "30" "13615" "0" "13615" "0" "c.13615G>A" "r.(?)" "p.(Gly4539Ser)" "" "0000656012" "00025657" "30" "13242" "0" "13242" "0" "c.13242C>T" "r.(?)" "p.(Arg4414=)" "" "0000656012" "00016320" "30" "13323" "0" "13323" "0" "c.13323C>T" "r.(?)" "p.(Arg4441=)" "" "0000656013" "00025657" "30" "11735" "0" "11735" "0" "c.11735G>A" "r.(?)" "p.(Arg3912Gln)" "" "0000656013" "00016320" "30" "11816" "0" "11816" "0" "c.11816G>A" "r.(?)" "p.(Arg3939Gln)" "" "0000656015" "00025657" "50" "10417" "0" "10417" "0" "c.10417G>A" "r.(?)" "p.(Gly3473Ser)" "" "0000656015" "00016320" "50" "10498" "0" "10498" "0" "c.10498G>A" "r.(?)" "p.(Gly3500Ser)" "" "0000656016" "00025657" "30" "8040" "0" "8040" "0" "c.8040C>T" "r.(?)" "p.(Asp2680=)" "" "0000656016" "00016320" "30" "8121" "0" "8121" "0" "c.8121C>T" "r.(?)" "p.(Asp2707=)" "" "0000656017" "00025657" "30" "6168" "0" "6168" "0" "c.6168C>T" "r.(?)" "p.(Phe2056=)" "" "0000656017" "00016320" "30" "6249" "0" "6249" "0" "c.6249C>T" "r.(?)" "p.(Phe2083=)" "" "0000656019" "00025657" "50" "5228" "0" "5228" "0" "c.5228C>T" "r.(?)" "p.(Ala1743Val)" "" "0000656019" "00016320" "50" "5309" "0" "5309" "0" "c.5309C>T" "r.(?)" "p.(Ala1770Val)" "" "0000656020" "00025657" "30" "4014" "0" "4014" "0" "c.4014C>T" "r.(?)" "p.(Ser1338=)" "" "0000656020" "00016320" "30" "4095" "0" "4095" "0" "c.4095C>T" "r.(?)" "p.(Ser1365=)" "" "0000656021" "00025657" "30" "3757" "-7" "3757" "-7" "c.3757-7C>T" "r.(=)" "p.(=)" "" "0000656021" "00016320" "30" "3838" "-7" "3838" "-7" "c.3838-7C>T" "r.(=)" "p.(=)" "" "0000656022" "00025657" "30" "3186" "0" "3186" "0" "c.3186G>A" "r.(?)" "p.(Thr1062=)" "" "0000656022" "00016320" "30" "3267" "0" "3267" "0" "c.3267G>A" "r.(?)" "p.(Thr1089=)" "" "0000656023" "00025657" "30" "2178" "9" "2178" "9" "c.2178+9C>T" "r.(=)" "p.(=)" "" "0000656023" "00016320" "30" "2259" "9" "2259" "9" "c.2259+9C>T" "r.(=)" "p.(=)" "" "0000656024" "00025657" "30" "1806" "0" "1806" "0" "c.1806C>T" "r.(?)" "p.(Ala602=)" "" "0000656024" "00016320" "30" "1887" "0" "1887" "0" "c.1887C>T" "r.(?)" "p.(Ala629=)" "" "0000656025" "00025657" "50" "1271" "0" "1271" "0" "c.1271G>A" "r.(?)" "p.(Arg424Gln)" "" "0000656025" "00016320" "50" "1352" "0" "1352" "0" "c.1352G>A" "r.(?)" "p.(Arg451Gln)" "" "0000656026" "00025657" "30" "1042" "-4" "1042" "-4" "c.1042-4A>G" "r.spl?" "p.?" "" "0000656026" "00016320" "30" "1123" "-4" "1123" "-4" "c.1123-4A>G" "r.spl?" "p.?" "" "0000656028" "00025657" "30" "-11154" "0" "-11154" "0" "c.-11154G>A" "r.(?)" "p.(=)" "" "0000656028" "00016320" "30" "194" "-11923" "194" "-11923" "c.194-11923G>A" "r.(=)" "p.(=)" "" "0000660111" "00016320" "50" "11233" "0" "11233" "0" "c.11233G>A" "r.(?)" "p.(Glu3745Lys)" "" "0000663710" "00016320" "50" "10810" "0" "10810" "0" "c.10810G>A" "r.(?)" "p.(Gly3604Ser)" "" "0000669998" "00025657" "10" "13205" "0" "13205" "0" "c.13205C>T" "r.(?)" "p.(Thr4402Met)" "" "0000669998" "00016320" "10" "13286" "0" "13286" "0" "c.13286C>T" "r.(?)" "p.(Thr4429Met)" "" "0000669999" "00025657" "10" "8050" "0" "8050" "0" "c.8050C>T" "r.(?)" "p.(Arg2684Trp)" "" "0000669999" "00016320" "10" "8131" "0" "8131" "0" "c.8131C>T" "r.(?)" "p.(Arg2711Trp)" "" "0000670000" "00025657" "10" "718" "10" "718" "10" "c.718+10C>T" "r.(=)" "p.(=)" "" "0000670000" "00016320" "10" "799" "10" "799" "10" "c.799+10C>T" "r.(=)" "p.(=)" "" "0000670366" "00016320" "50" "5266" "0" "5266" "0" "c.5266C>T" "r.(?)" "p.(Arg1756Trp)" "" "0000670367" "00016320" "50" "11356" "0" "11356" "0" "c.11356G>A" "r.(?)" "p.(Asp3786Asn)" "" "0000670739" "00016320" "50" "9866" "0" "9866" "0" "c.9866T>A" "r.(?)" "p.(Phe3289Tyr)" "" "0000670818" "00016320" "50" "3092" "0" "3092" "0" "c.3092T>G" "r.(?)" "p.(Val1031Gly)" "" "0000670848" "00016320" "50" "7052" "0" "7052" "0" "c.7052G>A" "r.(?)" "p.(Arg2351Gln)" "" "0000678303" "00025657" "50" "12341" "0" "12341" "0" "c.12341C>T" "r.(?)" "p.(Thr4114Met)" "" "0000678303" "00016320" "50" "12422" "0" "12422" "0" "c.12422C>T" "r.(?)" "p.(Thr4141Met)" "" "0000678304" "00025657" "30" "11547" "0" "11547" "0" "c.11547G>A" "r.(?)" "p.(Pro3849=)" "" "0000678304" "00016320" "30" "11628" "0" "11628" "0" "c.11628G>A" "r.(?)" "p.(Pro3876=)" "" "0000678305" "00025657" "50" "10176" "0" "10176" "0" "c.10176G>C" "r.(?)" "p.(Gln3392His)" "" "0000678305" "00016320" "50" "10257" "0" "10257" "0" "c.10257G>C" "r.(?)" "p.(Gln3419His)" "" "0000678306" "00025657" "30" "9163" "0" "9163" "0" "c.9163G>A" "r.(?)" "p.(Val3055Met)" "" "0000678306" "00016320" "30" "9244" "0" "9244" "0" "c.9244G>A" "r.(?)" "p.(Val3082Met)" "" "0000678307" "00025657" "50" "8762" "0" "8762" "0" "c.8762C>T" "r.(?)" "p.(Thr2921Met)" "" "0000678307" "00016320" "50" "8843" "0" "8843" "0" "c.8843C>T" "r.(?)" "p.(Thr2948Met)" "" "0000678308" "00025657" "30" "7527" "0" "7527" "0" "c.7527C>T" "r.(?)" "p.(Ile2509=)" "" "0000678308" "00016320" "30" "7608" "0" "7608" "0" "c.7608C>T" "r.(?)" "p.(Ile2536=)" "" "0000678309" "00025657" "90" "6874" "0" "6874" "0" "c.6874C>T" "r.(?)" "p.(Arg2292Ter)" "" "0000678309" "00016320" "90" "6955" "0" "6955" "0" "c.6955C>T" "r.(?)" "p.(Arg2319Ter)" "" "0000678310" "00025657" "30" "6311" "0" "6311" "0" "c.6311C>T" "r.(?)" "p.(Ala2104Val)" "" "0000678310" "00016320" "30" "6392" "0" "6392" "0" "c.6392C>T" "r.(?)" "p.(Ala2131Val)" "" "0000678311" "00025657" "50" "5968" "0" "5968" "0" "c.5968G>A" "r.(?)" "p.(Val1990Met)" "" "0000678311" "00016320" "50" "6049" "0" "6049" "0" "c.6049G>A" "r.(?)" "p.(Val2017Met)" "" "0000678312" "00025657" "50" "5221" "0" "5221" "0" "c.5221C>T" "r.(?)" "p.(Arg1741Cys)" "" "0000678312" "00016320" "50" "5302" "0" "5302" "0" "c.5302C>T" "r.(?)" "p.(Arg1768Cys)" "" "0000678313" "00025657" "50" "4651" "0" "4651" "0" "c.4651C>T" "r.(?)" "p.(Arg1551Cys)" "" "0000678313" "00016320" "50" "4732" "0" "4732" "0" "c.4732C>T" "r.(?)" "p.(Arg1578Cys)" "" "0000678314" "00025657" "30" "4556" "0" "4556" "0" "c.4556C>T" "r.(?)" "p.(Ser1519Leu)" "" "0000678314" "00016320" "30" "4637" "0" "4637" "0" "c.4637C>T" "r.(?)" "p.(Ser1546Leu)" "" "0000678315" "00025657" "30" "3588" "0" "3588" "0" "c.3588C>T" "r.(?)" "p.(Asp1196=)" "" "0000678315" "00016320" "30" "3669" "0" "3669" "0" "c.3669C>T" "r.(?)" "p.(Asp1223=)" "" "0000678316" "00025657" "30" "3481" "0" "3481" "0" "c.3481G>A" "r.(?)" "p.(Glu1161Lys)" "" "0000678316" "00016320" "30" "3562" "0" "3562" "0" "c.3562G>A" "r.(?)" "p.(Glu1188Lys)" "" "0000678317" "00025657" "30" "3354" "0" "3354" "0" "c.3354G>A" "r.(?)" "p.(Val1118=)" "" "0000678317" "00016320" "30" "3435" "0" "3435" "0" "c.3435G>A" "r.(?)" "p.(Val1145=)" "" "0000678318" "00025657" "50" "3293" "0" "3293" "0" "c.3293C>T" "r.(?)" "p.(Thr1098Met)" "" "0000678318" "00016320" "50" "3374" "0" "3374" "0" "c.3374C>T" "r.(?)" "p.(Thr1125Met)" "" "0000678319" "00025657" "50" "3028" "0" "3033" "0" "c.3028_3033dup" "r.(?)" "p.(Pro1010_Leu1011dup)" "" "0000678319" "00016320" "50" "3109" "0" "3114" "0" "c.3109_3114dup" "r.(?)" "p.(Pro1037_Leu1038dup)" "" "0000678320" "00025657" "50" "2738" "0" "2738" "0" "c.2738C>T" "r.(?)" "p.(Thr913Met)" "" "0000678320" "00016320" "50" "2819" "0" "2819" "0" "c.2819C>T" "r.(?)" "p.(Thr940Met)" "" "0000678321" "00025657" "30" "2237" "0" "2237" "0" "c.2237G>A" "r.(?)" "p.(Arg746His)" "" "0000678321" "00016320" "30" "2318" "0" "2318" "0" "c.2318G>A" "r.(?)" "p.(Arg773His)" "" "0000678322" "00025657" "30" "2079" "0" "2079" "0" "c.2079G>A" "r.(?)" "p.(Val693=)" "" "0000678322" "00016320" "30" "2160" "0" "2160" "0" "c.2160G>A" "r.(?)" "p.(Val720=)" "" "0000678323" "00025657" "30" "1418" "10" "1418" "10" "c.1418+10G>C" "r.(=)" "p.(=)" "" "0000678323" "00016320" "30" "1499" "10" "1499" "10" "c.1499+10G>C" "r.(=)" "p.(=)" "" "0000678324" "00025657" "50" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "" "0000678324" "00016320" "50" "779" "0" "779" "0" "c.779C>T" "r.(?)" "p.(Thr260Met)" "" "0000678325" "00025657" "30" "47" "0" "47" "0" "c.47G>A" "r.(?)" "p.(Arg16Gln)" "" "0000678325" "00016320" "30" "194" "-723" "194" "-723" "c.194-723G>A" "r.(=)" "p.(=)" "" "0000690184" "00025657" "30" "12243" "0" "12243" "0" "c.12243C>T" "r.(?)" "p.(Thr4081=)" "" "0000690184" "00016320" "30" "12324" "0" "12324" "0" "c.12324C>T" "r.(?)" "p.(Thr4108=)" "" "0000690185" "00025657" "30" "12141" "0" "12141" "0" "c.12141C>T" "r.(?)" "p.(Ile4047=)" "" "0000690185" "00016320" "30" "12222" "0" "12222" "0" "c.12222C>T" "r.(?)" "p.(Ile4074=)" "" "0000690186" "00025657" "50" "11611" "0" "11611" "0" "c.11611G>A" "r.(?)" "p.(Gly3871Ser)" "" "0000690186" "00016320" "50" "11692" "0" "11692" "0" "c.11692G>A" "r.(?)" "p.(Gly3898Ser)" "" "0000690187" "00025657" "30" "11315" "0" "11315" "0" "c.11315G>A" "r.(?)" "p.(Arg3772His)" "" "0000690187" "00016320" "30" "11396" "0" "11396" "0" "c.11396G>A" "r.(?)" "p.(Arg3799His)" "" "0000690188" "00025657" "30" "10497" "0" "10497" "0" "c.10497C>T" "r.(?)" "p.(Asn3499=)" "" "0000690188" "00016320" "30" "10578" "0" "10578" "0" "c.10578C>T" "r.(?)" "p.(Asn3526=)" "" "0000690189" "00025657" "30" "9901" "0" "9901" "0" "c.9901G>A" "r.(?)" "p.(Glu3301Lys)" "" "0000690189" "00016320" "30" "9982" "0" "9982" "0" "c.9982G>A" "r.(?)" "p.(Glu3328Lys)" "" "0000690190" "00025657" "30" "9468" "0" "9468" "0" "c.9468C>T" "r.(?)" "p.(Val3156=)" "" "0000690190" "00016320" "30" "9549" "0" "9549" "0" "c.9549C>T" "r.(?)" "p.(Val3183=)" "" "0000690191" "00025657" "30" "9333" "0" "9333" "0" "c.9333G>A" "r.(?)" "p.(Gly3111=)" "" "0000690191" "00016320" "30" "9414" "0" "9414" "0" "c.9414G>A" "r.(?)" "p.(Gly3138=)" "" "0000690192" "00025657" "50" "5922" "0" "5922" "0" "c.5922G>C" "r.(?)" "p.(Gln1974His)" "" "0000690192" "00016320" "50" "6003" "0" "6003" "0" "c.6003G>C" "r.(?)" "p.(Gln2001His)" "" "0000690193" "00025657" "90" "5852" "0" "5853" "0" "c.5852_5853insAG" "r.(?)" "p.(Arg1952AlafsTer64)" "" "0000690193" "00016320" "90" "5933" "0" "5934" "0" "c.5933_5934insAG" "r.(?)" "p.(Arg1979AlafsTer64)" "" "0000690194" "00025657" "30" "5493" "0" "5493" "0" "c.5493G>A" "r.(?)" "p.(Ala1831=)" "" "0000690194" "00016320" "30" "5574" "0" "5574" "0" "c.5574G>A" "r.(?)" "p.(Ala1858=)" "" "0000690195" "00025657" "30" "5286" "0" "5286" "0" "c.5286C>T" "r.(?)" "p.(Ala1762=)" "" "0000690195" "00016320" "30" "5367" "0" "5367" "0" "c.5367C>T" "r.(?)" "p.(Ala1789=)" "" "0000690196" "00025657" "30" "4366" "0" "4366" "0" "c.4366G>A" "r.(?)" "p.(Val1456Met)" "" "0000690196" "00016320" "30" "4447" "0" "4447" "0" "c.4447G>A" "r.(?)" "p.(Val1483Met)" "" "0000690197" "00025657" "30" "378" "0" "378" "0" "c.378T>G" "r.(?)" "p.(Ala126=)" "" "0000690197" "00016320" "30" "459" "0" "459" "0" "c.459T>G" "r.(?)" "p.(Ala153=)" "" "0000690198" "00025657" "30" "378" "0" "378" "0" "c.378T>G" "r.(?)" "p.(Ala126=)" "" "0000690198" "00016320" "30" "459" "0" "459" "0" "c.459T>G" "r.(?)" "p.(Ala153=)" "" "0000690199" "00025657" "50" "-4366" "0" "-4366" "0" "c.-4366G>A" "r.(?)" "p.(=)" "" "0000690199" "00016320" "50" "194" "-5135" "194" "-5135" "c.194-5135G>A" "r.(=)" "p.(=)" "" "0000690200" "00025657" "30" "-11008" "0" "-11008" "0" "c.-11008G>A" "r.(?)" "p.(=)" "" "0000690200" "00016320" "30" "194" "-11777" "194" "-11777" "c.194-11777G>A" "r.(=)" "p.(=)" "" "0000690201" "00025657" "50" "-11119" "0" "-11119" "0" "c.-11119G>A" "r.(?)" "p.(=)" "" "0000690201" "00016320" "50" "194" "-11888" "194" "-11888" "c.194-11888G>A" "r.(=)" "p.(=)" "" "0000699705" "00016320" "70" "1786" "0" "1786" "0" "c.1786C>T" "r.(?)" "p.(Arg596Trp)" "" "0000721819" "00025657" "30" "13641" "0" "13641" "0" "c.13641C>G" "r.(?)" "p.(Ala4547=)" "" "0000721819" "00016320" "30" "13722" "0" "13722" "0" "c.13722C>G" "r.(?)" "p.(Ala4574=)" "" "0000721820" "00025657" "30" "11550" "0" "11550" "0" "c.11550C>T" "r.(?)" "p.(Ser3850=)" "" "0000721820" "00016320" "30" "11631" "0" "11631" "0" "c.11631C>T" "r.(?)" "p.(Ser3877=)" "" "0000721821" "00025657" "30" "11418" "0" "11418" "0" "c.11418C>T" "r.(?)" "p.(Thr3806=)" "" "0000721821" "00016320" "30" "11499" "0" "11499" "0" "c.11499C>T" "r.(?)" "p.(Thr3833=)" "" "0000721822" "00025657" "50" "11077" "0" "11077" "0" "c.11077G>A" "r.(?)" "p.(Ala3693Thr)" "" "0000721822" "00016320" "50" "11158" "0" "11158" "0" "c.11158G>A" "r.(?)" "p.(Ala3720Thr)" "" "0000721823" "00025657" "30" "10038" "0" "10038" "0" "c.10038C>T" "r.(?)" "p.(Ser3346=)" "" "0000721823" "00016320" "30" "10119" "0" "10119" "0" "c.10119C>T" "r.(?)" "p.(Ser3373=)" "" "0000721824" "00025657" "50" "9544" "0" "9544" "0" "c.9544A>G" "r.(?)" "p.(Ser3182Gly)" "" "0000721824" "00016320" "50" "9625" "0" "9625" "0" "c.9625A>G" "r.(?)" "p.(Ser3209Gly)" "" "0000721825" "00025657" "30" "9481" "0" "9481" "0" "c.9481G>C" "r.(?)" "p.(Gly3161Arg)" "" "0000721825" "00016320" "30" "9562" "0" "9562" "0" "c.9562G>C" "r.(?)" "p.(Gly3188Arg)" "" "0000721826" "00025657" "50" "8762" "0" "8762" "0" "c.8762C>T" "r.(?)" "p.(Thr2921Met)" "" "0000721826" "00016320" "50" "8843" "0" "8843" "0" "c.8843C>T" "r.(?)" "p.(Thr2948Met)" "" "0000721827" "00025657" "30" "8277" "0" "8277" "0" "c.8277G>A" "r.(?)" "p.(Val2759=)" "" "0000721827" "00016320" "30" "8358" "0" "8358" "0" "c.8358G>A" "r.(?)" "p.(Val2786=)" "" "0000721828" "00025657" "50" "7888" "0" "7888" "0" "c.7888C>T" "r.(?)" "p.(Arg2630Trp)" "" "0000721828" "00016320" "50" "7969" "0" "7969" "0" "c.7969C>T" "r.(?)" "p.(Arg2657Trp)" "" "0000721829" "00025657" "50" "7313" "0" "7313" "0" "c.7313G>A" "r.(?)" "p.(Arg2438Gln)" "" "0000721829" "00016320" "50" "7394" "0" "7394" "0" "c.7394G>A" "r.(?)" "p.(Arg2465Gln)" "" "0000721830" "00025657" "30" "6248" "0" "6248" "0" "c.6248C>T" "r.(?)" "p.(Ala2083Val)" "" "0000721830" "00016320" "30" "6329" "0" "6329" "0" "c.6329C>T" "r.(?)" "p.(Ala2110Val)" "" "0000721831" "00025657" "30" "6021" "0" "6021" "0" "c.6021G>A" "r.(?)" "p.(Ala2007=)" "" "0000721831" "00016320" "30" "6102" "0" "6102" "0" "c.6102G>A" "r.(?)" "p.(Ala2034=)" "" "0000721832" "00025657" "50" "5968" "0" "5968" "0" "c.5968G>A" "r.(?)" "p.(Val1990Met)" "" "0000721832" "00016320" "50" "6049" "0" "6049" "0" "c.6049G>A" "r.(?)" "p.(Val2017Met)" "" "0000721833" "00025657" "30" "5922" "0" "5922" "0" "c.5922G>C" "r.(?)" "p.(Gln1974His)" "" "0000721833" "00016320" "30" "6003" "0" "6003" "0" "c.6003G>C" "r.(?)" "p.(Gln2001His)" "" "0000721834" "00025657" "50" "5024" "0" "5024" "0" "c.5024G>A" "r.(?)" "p.(Arg1675Gln)" "" "0000721834" "00016320" "50" "5105" "0" "5105" "0" "c.5105G>A" "r.(?)" "p.(Arg1702Gln)" "" "0000721835" "00025657" "50" "4498" "0" "4498" "0" "c.4498C>T" "r.(?)" "p.(Arg1500Trp)" "" "0000721835" "00016320" "50" "4579" "0" "4579" "0" "c.4579C>T" "r.(?)" "p.(Arg1527Trp)" "" "0000721836" "00025657" "30" "4364" "0" "4364" "0" "c.4364G>A" "r.(?)" "p.(Arg1455His)" "" "0000721836" "00016320" "30" "4445" "0" "4445" "0" "c.4445G>A" "r.(?)" "p.(Arg1482His)" "" "0000721837" "00025657" "30" "3682" "0" "3682" "0" "c.3682C>T" "r.(?)" "p.(Arg1228Trp)" "" "0000721837" "00016320" "30" "3763" "0" "3763" "0" "c.3763C>T" "r.(?)" "p.(Arg1255Trp)" "" "0000721838" "00025657" "50" "3560" "0" "3560" "0" "c.3560G>A" "r.(?)" "p.(Arg1187His)" "" "0000721838" "00016320" "50" "3641" "0" "3641" "0" "c.3641G>A" "r.(?)" "p.(Arg1214His)" "" "0000721839" "00025657" "30" "2844" "0" "2844" "0" "c.2844C>T" "r.(?)" "p.(Pro948=)" "" "0000721839" "00016320" "30" "2925" "0" "2925" "0" "c.2925C>T" "r.(?)" "p.(Pro975=)" "" "0000721840" "00025657" "30" "801" "0" "801" "0" "c.801C>T" "r.(?)" "p.(Asp267=)" "" "0000721840" "00016320" "30" "882" "0" "882" "0" "c.882C>T" "r.(?)" "p.(Asp294=)" "" "0000721841" "00025657" "30" "-4382" "0" "-4382" "0" "c.-4382C>T" "r.(?)" "p.(=)" "" "0000721841" "00016320" "30" "194" "-5151" "194" "-5151" "c.194-5151C>T" "r.(=)" "p.(=)" "" "0000721842" "00025657" "50" "-10830" "0" "-10830" "0" "c.-10830T>C" "r.(?)" "p.(=)" "" "0000721842" "00016320" "50" "194" "-11599" "194" "-11599" "c.194-11599T>C" "r.(=)" "p.(=)" "" "0000803486" "00025657" "30" "13002" "0" "13002" "0" "c.13002C>T" "r.(?)" "p.(Asp4334=)" "" "0000803486" "00016320" "30" "13083" "0" "13083" "0" "c.13083C>T" "r.(?)" "p.(Asp4361=)" "" "0000803487" "00025657" "50" "12907" "0" "12907" "0" "c.12907G>A" "r.(?)" "p.(Val4303Met)" "" "0000803487" "00016320" "50" "12988" "0" "12988" "0" "c.12988G>A" "r.(?)" "p.(Val4330Met)" "" "0000803488" "00025657" "50" "12817" "0" "12817" "0" "c.12817C>T" "r.(?)" "p.(Pro4273Ser)" "" "0000803488" "00016320" "50" "12898" "0" "12898" "0" "c.12898C>T" "r.(?)" "p.(Pro4300Ser)" "" "0000803489" "00025657" "30" "12475" "0" "12475" "0" "c.12475C>T" "r.(?)" "p.(Arg4159Cys)" "" "0000803489" "00016320" "30" "12556" "0" "12556" "0" "c.12556C>T" "r.(?)" "p.(Arg4186Cys)" "" "0000803490" "00025657" "30" "12405" "0" "12405" "0" "c.12405C>A" "r.(?)" "p.(Ser4135=)" "" "0000803490" "00016320" "30" "12486" "0" "12486" "0" "c.12486C>A" "r.(?)" "p.(Ser4162=)" "" "0000803491" "00025657" "30" "12390" "0" "12390" "0" "c.12390G>A" "r.(?)" "p.(Thr4130=)" "" "0000803491" "00016320" "30" "12471" "0" "12471" "0" "c.12471G>A" "r.(?)" "p.(Thr4157=)" "" "0000803492" "00025657" "30" "11642" "0" "11642" "0" "c.11642G>A" "r.(?)" "p.(Arg3881His)" "" "0000803492" "00016320" "30" "11723" "0" "11723" "0" "c.11723G>A" "r.(?)" "p.(Arg3908His)" "" "0000803493" "00025657" "30" "11394" "0" "11394" "0" "c.11394G>A" "r.(?)" "p.(Arg3798=)" "" "0000803493" "00016320" "30" "11475" "0" "11475" "0" "c.11475G>A" "r.(?)" "p.(Arg3825=)" "" "0000803494" "00025657" "30" "10740" "0" "10740" "0" "c.10740C>T" "r.(?)" "p.(His3580=)" "" "0000803494" "00016320" "30" "10821" "0" "10821" "0" "c.10821C>T" "r.(?)" "p.(His3607=)" "" "0000803495" "00025657" "30" "10602" "0" "10602" "0" "c.10602C>T" "r.(?)" "p.(Pro3534=)" "" "0000803495" "00016320" "30" "10683" "0" "10683" "0" "c.10683C>T" "r.(?)" "p.(Pro3561=)" "" "0000803496" "00025657" "50" "10565" "0" "10565" "0" "c.10565C>T" "r.(?)" "p.(Thr3522Met)" "" "0000803496" "00016320" "50" "10646" "0" "10646" "0" "c.10646C>T" "r.(?)" "p.(Thr3549Met)" "" "0000803497" "00025657" "50" "9925" "0" "9925" "0" "c.9925C>T" "r.(?)" "p.(Arg3309Cys)" "" "0000803497" "00016320" "50" "10006" "0" "10006" "0" "c.10006C>T" "r.(?)" "p.(Arg3336Cys)" "" "0000803498" "00025657" "50" "9404" "0" "9404" "0" "c.9404A>G" "r.(?)" "p.(Asp3135Gly)" "" "0000803498" "00016320" "50" "9485" "0" "9485" "0" "c.9485A>G" "r.(?)" "p.(Asp3162Gly)" "" "0000803499" "00025657" "30" "9333" "0" "9333" "0" "c.9333G>A" "r.(?)" "p.(Gly3111=)" "" "0000803499" "00016320" "30" "9414" "0" "9414" "0" "c.9414G>A" "r.(?)" "p.(Gly3138=)" "" "0000803500" "00025657" "50" "9081" "0" "9081" "0" "c.9081G>A" "r.(?)" "p.(Ala3027=)" "" "0000803500" "00016320" "50" "9162" "0" "9162" "0" "c.9162G>A" "r.(?)" "p.(Ala3054=)" "" "0000803501" "00025657" "50" "9034" "0" "9034" "0" "c.9034G>A" "r.(?)" "p.(Glu3012Lys)" "" "0000803501" "00016320" "50" "9115" "0" "9115" "0" "c.9115G>A" "r.(?)" "p.(Glu3039Lys)" "" "0000803502" "00025657" "30" "9034" "0" "9034" "0" "c.9034G>A" "r.(?)" "p.(Glu3012Lys)" "" "0000803502" "00016320" "30" "9115" "0" "9115" "0" "c.9115G>A" "r.(?)" "p.(Glu3039Lys)" "" "0000803503" "00025657" "30" "8617" "0" "8617" "0" "c.8617G>A" "r.(?)" "p.(Glu2873Lys)" "" "0000803503" "00016320" "30" "8698" "0" "8698" "0" "c.8698G>A" "r.(?)" "p.(Glu2900Lys)" "" "0000803504" "00025657" "30" "8582" "0" "8582" "0" "c.8582A>G" "r.(?)" "p.(Asn2861Ser)" "" "0000803504" "00016320" "30" "8663" "0" "8663" "0" "c.8663A>G" "r.(?)" "p.(Asn2888Ser)" "" "0000803505" "00025657" "30" "8040" "0" "8040" "0" "c.8040C>T" "r.(?)" "p.(Asp2680=)" "" "0000803505" "00016320" "30" "8121" "0" "8121" "0" "c.8121C>T" "r.(?)" "p.(Asp2707=)" "" "0000803506" "00025657" "50" "7538" "0" "7538" "0" "c.7538A>C" "r.(?)" "p.(Lys2513Thr)" "" "0000803506" "00016320" "50" "7619" "0" "7619" "0" "c.7619A>C" "r.(?)" "p.(Lys2540Thr)" "" "0000803507" "00025657" "50" "7537" "0" "7537" "0" "c.7537A>G" "r.(?)" "p.(Lys2513Glu)" "" "0000803507" "00016320" "50" "7618" "0" "7618" "0" "c.7618A>G" "r.(?)" "p.(Lys2540Glu)" "" "0000803508" "00025657" "30" "6650" "0" "6650" "0" "c.6650C>T" "r.(?)" "p.(Thr2217Met)" "" "0000803508" "00016320" "30" "6731" "0" "6731" "0" "c.6731C>T" "r.(?)" "p.(Thr2244Met)" "" "0000803509" "00025657" "50" "5996" "0" "5998" "0" "c.5996_5998del" "r.(?)" "p.(Glu1999del)" "" "0000803509" "00016320" "50" "6077" "0" "6079" "0" "c.6077_6079del" "r.(?)" "p.(Glu2026del)" "" "0000803510" "00025657" "50" "5965" "0" "5965" "0" "c.5965C>T" "r.(?)" "p.(Arg1989Cys)" "" "0000803510" "00016320" "50" "6046" "0" "6046" "0" "c.6046C>T" "r.(?)" "p.(Arg2016Cys)" "" "0000803511" "00025657" "50" "5227" "0" "5227" "0" "c.5227G>A" "r.(?)" "p.(Ala1743Thr)" "" "0000803511" "00016320" "50" "5308" "0" "5308" "0" "c.5308G>A" "r.(?)" "p.(Ala1770Thr)" "" "0000803512" "00025657" "50" "5155" "0" "5155" "0" "c.5155C>T" "r.(?)" "p.(Arg1719Trp)" "" "0000803512" "00016320" "50" "5236" "0" "5236" "0" "c.5236C>T" "r.(?)" "p.(Arg1746Trp)" "" "0000803513" "00025657" "50" "4118" "0" "4118" "0" "c.4118G>A" "r.(?)" "p.(Arg1373Gln)" "" "0000803513" "00016320" "50" "4199" "0" "4199" "0" "c.4199G>A" "r.(?)" "p.(Arg1400Gln)" "" "0000803514" "00025657" "50" "4118" "0" "4118" "0" "c.4118G>A" "r.(?)" "p.(Arg1373Gln)" "" "0000803514" "00016320" "50" "4199" "0" "4199" "0" "c.4199G>A" "r.(?)" "p.(Arg1400Gln)" "" "0000803515" "00025657" "50" "4075" "0" "4075" "0" "c.4075C>T" "r.(?)" "p.(Arg1359Cys)" "" "0000803515" "00016320" "50" "4156" "0" "4156" "0" "c.4156C>T" "r.(?)" "p.(Arg1386Cys)" "" "0000803516" "00025657" "50" "2579" "0" "2579" "0" "c.2579C>T" "r.(?)" "p.(Pro860Leu)" "" "0000803516" "00016320" "50" "2660" "0" "2660" "0" "c.2660C>T" "r.(?)" "p.(Pro887Leu)" "" "0000803517" "00025657" "50" "2551" "0" "2551" "0" "c.2551G>A" "r.(?)" "p.(Val851Met)" "" "0000803517" "00016320" "50" "2632" "0" "2632" "0" "c.2632G>A" "r.(?)" "p.(Val878Met)" "" "0000803518" "00025657" "50" "2269" "0" "2269" "0" "c.2269G>A" "r.(?)" "p.(Val757Ile)" "" "0000803518" "00016320" "50" "2350" "0" "2350" "0" "c.2350G>A" "r.(?)" "p.(Val784Ile)" "" "0000803519" "00025657" "30" "1418" "3" "1418" "3" "c.1418+3G>A" "r.spl?" "p.?" "" "0000803519" "00016320" "30" "1499" "3" "1499" "3" "c.1499+3G>A" "r.spl?" "p.?" "" "0000803520" "00025657" "30" "1191" "0" "1191" "0" "c.1191C>T" "r.(?)" "p.(Ile397=)" "" "0000803520" "00016320" "30" "1272" "0" "1272" "0" "c.1272C>T" "r.(?)" "p.(Ile424=)" "" "0000803521" "00025657" "30" "602" "5" "602" "5" "c.602+5A>G" "r.spl?" "p.?" "" "0000803521" "00016320" "30" "683" "5" "683" "5" "c.683+5A>G" "r.spl?" "p.?" "" "0000803522" "00025657" "30" "33" "0" "33" "0" "c.33C>T" "r.(?)" "p.(Pro11=)" "" "0000803522" "00016320" "30" "194" "-737" "194" "-737" "c.194-737C>T" "r.(=)" "p.(=)" "" "0000803523" "00025657" "50" "-11105" "0" "-11105" "0" "c.-11105G>A" "r.(?)" "p.(=)" "" "0000803523" "00016320" "50" "194" "-11874" "194" "-11874" "c.194-11874G>A" "r.(=)" "p.(=)" "" "0000803524" "00025657" "30" "-11154" "0" "-11154" "0" "c.-11154G>A" "r.(?)" "p.(=)" "" "0000803524" "00016320" "30" "194" "-11923" "194" "-11923" "c.194-11923G>A" "r.(=)" "p.(=)" "" "0000819275" "00016320" "50" "5796" "0" "5796" "0" "c.5796G>C" "r.(?)" "p.(Glu1932Asp)" "" "0000819281" "00016320" "50" "5524" "0" "5524" "0" "c.5524C>T" "r.(?)" "p.(Arg1842Trp)" "" "0000819282" "00016320" "70" "5447" "0" "5459" "0" "c.5447_5459del" "r.(?)" "p.(Leu1816Profs*125)" "" "0000823838" "00025657" "50" "1570" "0" "1570" "0" "c.1570G>A" "r.(?)" "p.(Glu524Lys)" "" "0000823838" "00016320" "50" "1570" "0" "1570" "0" "c.1570G>A" "r.(?)" "p.(Glu524Lys)" "" "0000823902" "00025657" "50" "1667" "0" "1667" "0" "c.1667G>A" "r.(?)" "p.(Gly556Asp)" "" "0000823902" "00016320" "50" "2078" "0" "2078" "0" "c.2078G>A" "r.(?)" "p.(Gly693Asp)" "" "0000823942" "00025657" "50" "10072" "0" "10072" "0" "c.10072G>A" "r.(?)" "p.(Ala3358Thr)" "" "0000823942" "00016320" "50" "10153" "0" "10153" "0" "c.10153G>A" "r.(?)" "p.(Ala3385Thr)" "" "0000823957" "00025657" "50" "4597" "0" "4597" "0" "c.4597C>T" "r.(?)" "p.(Arg1533Trp)" "" "0000823957" "00016320" "50" "4678" "0" "4678" "0" "c.4678C>T" "r.(?)" "p.(Arg1560Trp)" "" "0000823962" "00025657" "50" "6311" "0" "6311" "0" "c.6311C>T" "r.(?)" "p.(Ala2104Val)" "" "0000823962" "00016320" "50" "6392" "0" "6392" "0" "c.6392C>T" "r.(?)" "p.(Ala2131Val)" "" "0000823966" "00025657" "50" "3787" "0" "3787" "0" "c.3787G>A" "r.(?)" "p.(Glu1263Lys)" "" "0000823966" "00016320" "50" "3868" "0" "3868" "0" "c.3868G>A" "r.(?)" "p.(Glu1290Lys)" "" "0000823977" "00025657" "50" "3787" "0" "3787" "0" "c.3787G>A" "r.(?)" "p.(Glu1263Lys)" "" "0000823977" "00016320" "50" "3868" "0" "3868" "0" "c.3868G>A" "r.(?)" "p.(Glu1290Lys)" "" "0000823979" "00025657" "50" "1759" "0" "1759" "0" "c.1759C>T" "r.(?)" "p.(Arg587Trp)" "" "0000823979" "00016320" "50" "1840" "0" "1840" "0" "c.1840C>T" "r.(?)" "p.(Arg614Trp)" "" "0000823989" "00025657" "50" "2962" "0" "2962" "0" "c.2962G>C" "r.(?)" "p.(Glu988Gln)" "" "0000823989" "00016320" "50" "3043" "0" "3043" "0" "c.3043G>C" "r.(?)" "p.(Glu1015Gln)" "" "0000823991" "00025657" "50" "12761" "0" "12761" "0" "c.12761C>T" "r.(?)" "p.(Ser4254Phe)" "" "0000823991" "00016320" "50" "12842" "0" "12842" "0" "c.12842C>T" "r.(?)" "p.(Ser4281Phe)" "" "0000823998" "00025657" "50" "2795" "0" "2795" "0" "c.2795A>G" "r.(?)" "p.(His932Arg)" "" "0000823998" "00016320" "50" "2876" "0" "2876" "0" "c.2876A>G" "r.(?)" "p.(His959Arg)" "" "0000824002" "00025657" "50" "8476" "0" "8476" "0" "c.8476G>A" "r.(?)" "p.(Val2826Met)" "" "0000824002" "00016320" "50" "8557" "0" "8557" "0" "c.8557G>A" "r.(?)" "p.(Val2853Met)" "" "0000824005" "00025657" "50" "4346" "0" "4346" "0" "c.4346G>A" "r.(?)" "p.(Arg1449His)" "" "0000824005" "00016320" "50" "4427" "0" "4427" "0" "c.4427G>A" "r.(?)" "p.(Arg1476His)" "" "0000828420" "00016320" "50" "12812" "0" "12812" "0" "c.12812G>A" "r.(?)" "p.(Arg4271His)" "" "0000828436" "00016320" "50" "8009" "0" "8009" "0" "c.8009A>G" "r.(?)" "p.(Glu2670Gly)" "" "0000829145" "00025657" "50" "13066" "0" "13066" "0" "c.13066T>C" "r.(?)" "p.(Phe4356Leu)" "" "0000829145" "00016320" "50" "13147" "0" "13147" "0" "c.13147T>C" "r.(?)" "p.(Phe4383Leu)" "" "0000829201" "00025657" "70" "3176" "0" "3176" "0" "c.3176C>T" "r.(?)" "p.(Ala1059Val)" "" "0000829201" "00016320" "70" "3257" "0" "3257" "0" "c.3257C>T" "r.(?)" "p.(Ala1086Val)" "" "0000833145" "00016320" "70" "5197" "0" "5197" "0" "c.5197C>G" "r.(?)" "p.(Gln1733Glu)" "" "0000833198" "00016320" "70" "2264" "0" "2266" "0" "c.2264_2266del" "r.(?)" "p.(Phe755del)" "" "0000846724" "00025657" "90" "10550" "0" "10550" "0" "c.10550C>T" "r.(?)" "p.(Thr3517Met)" "14" "0000846725" "00025657" "90" "1593" "0" "1593" "0" "c.1593G>A" "r.(?)" "p.(Trp531*)" "" "0000846726" "00025657" "90" "6362" "0" "6362" "0" "c.6362del" "r.(?)" "p.(Ala2121Glufs*68)" "31" "0000846727" "00025657" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Gln414Arg)" "12" "0000846728" "00025657" "90" "5026" "0" "5026" "0" "c.5026C>T" "r.(?)" "p.(Arg1676Cys)" "31" "0000846729" "00025657" "90" "7273" "0" "7273" "0" "c.7273C>T" "r.(?)" "p.(Gln2425*)" "32" "0000846730" "00025657" "90" "1737" "1" "1737" "1" "c.1737+1G>A" "r.spl" "p.?" "" "0000851816" "00025657" "30" "12642" "0" "12642" "0" "c.12642C>T" "r.(?)" "p.(Ile4214=)" "" "0000851816" "00016320" "30" "12723" "0" "12723" "0" "c.12723C>T" "r.(?)" "p.(Ile4241=)" "" "0000851817" "00025657" "50" "11477" "0" "11477" "0" "c.11477G>A" "r.(?)" "p.(Arg3826His)" "" "0000851817" "00016320" "50" "11558" "0" "11558" "0" "c.11558G>A" "r.(?)" "p.(Arg3853His)" "" "0000851818" "00025657" "50" "10870" "0" "10870" "0" "c.10870G>A" "r.(?)" "p.(Glu3624Lys)" "" "0000851818" "00016320" "50" "10951" "0" "10951" "0" "c.10951G>A" "r.(?)" "p.(Glu3651Lys)" "" "0000851819" "00025657" "50" "10302" "0" "10302" "0" "c.10302C>A" "r.(?)" "p.(Thr3434=)" "" "0000851819" "00016320" "50" "10383" "0" "10383" "0" "c.10383C>A" "r.(?)" "p.(Thr3461=)" "" "0000851820" "00025657" "30" "9929" "0" "9929" "0" "c.9929C>T" "r.(?)" "p.(Ala3310Val)" "" "0000851820" "00016320" "30" "10010" "0" "10010" "0" "c.10010C>T" "r.(?)" "p.(Ala3337Val)" "" "0000851821" "00025657" "30" "9435" "0" "9435" "0" "c.9435C>T" "r.(?)" "p.(Asp3145=)" "" "0000851821" "00016320" "30" "9516" "0" "9516" "0" "c.9516C>T" "r.(?)" "p.(Asp3172=)" "" "0000851822" "00025657" "50" "8236" "0" "8236" "0" "c.8236C>T" "r.(?)" "p.(Arg2746Trp)" "" "0000851822" "00016320" "50" "8317" "0" "8317" "0" "c.8317C>T" "r.(?)" "p.(Arg2773Trp)" "" "0000851823" "00025657" "30" "7110" "0" "7110" "0" "c.7110C>T" "r.(?)" "p.(Ala2370=)" "" "0000851823" "00016320" "30" "7191" "0" "7191" "0" "c.7191C>T" "r.(?)" "p.(Ala2397=)" "" "0000851824" "00025657" "30" "5003" "0" "5003" "0" "c.5003A>C" "r.(?)" "p.(Glu1668Ala)" "" "0000851824" "00016320" "30" "5084" "0" "5084" "0" "c.5084A>C" "r.(?)" "p.(Glu1695Ala)" "" "0000851825" "00025657" "30" "4635" "0" "4635" "0" "c.4635G>A" "r.(?)" "p.(Ala1545=)" "" "0000851825" "00016320" "30" "4716" "0" "4716" "0" "c.4716G>A" "r.(?)" "p.(Ala1572=)" "" "0000851826" "00025657" "50" "4432" "0" "4432" "0" "c.4432C>G" "r.(?)" "p.(Leu1478Val)" "" "0000851826" "00016320" "50" "4513" "0" "4513" "0" "c.4513C>G" "r.(?)" "p.(Leu1505Val)" "" "0000851827" "00025657" "30" "4103" "0" "4103" "0" "c.4103C>T" "r.(?)" "p.(Ala1368Val)" "" "0000851827" "00016320" "30" "4184" "0" "4184" "0" "c.4184C>T" "r.(?)" "p.(Ala1395Val)" "" "0000851828" "00025657" "30" "3543" "0" "3543" "0" "c.3543C>T" "r.(?)" "p.(Val1181=)" "" "0000851828" "00016320" "30" "3624" "0" "3624" "0" "c.3624C>T" "r.(?)" "p.(Val1208=)" "" "0000851829" "00025657" "30" "3192" "0" "3192" "0" "c.3192C>T" "r.(?)" "p.(Arg1064=)" "" "0000851829" "00016320" "30" "3273" "0" "3273" "0" "c.3273C>T" "r.(?)" "p.(Arg1091=)" "" "0000851830" "00025657" "50" "1263" "10" "1263" "11" "c.1263+10_1263+11insCG" "r.(=)" "p.(=)" "" "0000851830" "00016320" "50" "1344" "10" "1344" "11" "c.1344+10_1344+11insCG" "r.(=)" "p.(=)" "" "0000851831" "00025657" "50" "1263" "8" "1263" "9" "c.1263+8_1263+9insCAGCA" "r.(=)" "p.(=)" "" "0000851831" "00016320" "50" "1344" "8" "1344" "9" "c.1344+8_1344+9insCAGCA" "r.(=)" "p.(=)" "" "0000851832" "00025657" "50" "1263" "6" "1263" "7" "c.1263+6_1263+7insCAGTCGGTGA" "r.(=)" "p.(=)" "" "0000851832" "00016320" "50" "1344" "6" "1344" "7" "c.1344+6_1344+7insCAGTCGGTGA" "r.(=)" "p.(=)" "" "0000851833" "00025657" "50" "1003" "0" "1003" "0" "c.1003G>A" "r.(?)" "p.(Asp335Asn)" "" "0000851833" "00016320" "50" "1084" "0" "1084" "0" "c.1084G>A" "r.(?)" "p.(Asp362Asn)" "" "0000851834" "00025657" "30" "38" "0" "38" "0" "c.38G>C" "r.(?)" "p.(Gly13Ala)" "" "0000851834" "00016320" "30" "194" "-732" "194" "-732" "c.194-732G>C" "r.(=)" "p.(=)" "" "0000851835" "00025657" "30" "-4308" "0" "-4308" "0" "c.-4308G>T" "r.(?)" "p.(=)" "" "0000851835" "00016320" "30" "194" "-5077" "194" "-5077" "c.194-5077G>T" "r.(=)" "p.(=)" "" "0000861083" "00025657" "30" "13242" "0" "13242" "0" "c.13242C>T" "r.(?)" "p.(Arg4414=)" "" "0000861083" "00016320" "30" "13323" "0" "13323" "0" "c.13323C>T" "r.(?)" "p.(Arg4441=)" "" "0000861084" "00025657" "30" "13206" "0" "13206" "0" "c.13206G>A" "r.(?)" "p.(Thr4402=)" "" "0000861084" "00016320" "30" "13287" "0" "13287" "0" "c.13287G>A" "r.(?)" "p.(Thr4429=)" "" "0000861085" "00025657" "30" "13110" "0" "13110" "0" "c.13110C>T" "r.(?)" "p.(Ala4370=)" "" "0000861085" "00016320" "30" "13191" "0" "13191" "0" "c.13191C>T" "r.(?)" "p.(Ala4397=)" "" "0000861086" "00025657" "30" "12443" "0" "12443" "0" "c.12443C>T" "r.(?)" "p.(Thr4148Met)" "" "0000861086" "00016320" "30" "12524" "0" "12524" "0" "c.12524C>T" "r.(?)" "p.(Thr4175Met)" "" "0000861087" "00025657" "30" "11547" "0" "11547" "0" "c.11547G>A" "r.(?)" "p.(Pro3849=)" "" "0000861087" "00016320" "30" "11628" "0" "11628" "0" "c.11628G>A" "r.(?)" "p.(Pro3876=)" "" "0000861088" "00025657" "30" "11443" "0" "11443" "0" "c.11443G>C" "r.(?)" "p.(Gly3815Arg)" "" "0000861088" "00016320" "30" "11524" "0" "11524" "0" "c.11524G>C" "r.(?)" "p.(Gly3842Arg)" "" "0000861089" "00025657" "50" "11342" "0" "11342" "0" "c.11342C>T" "r.(?)" "p.(Ser3781Leu)" "" "0000861089" "00016320" "50" "11423" "0" "11423" "0" "c.11423C>T" "r.(?)" "p.(Ser3808Leu)" "" "0000861090" "00025657" "30" "11208" "0" "11208" "0" "c.11208G>A" "r.(?)" "p.(Pro3736=)" "" "0000861090" "00016320" "30" "11289" "0" "11289" "0" "c.11289G>A" "r.(?)" "p.(Pro3763=)" "" "0000861091" "00025657" "30" "11207" "0" "11207" "0" "c.11207C>T" "r.(?)" "p.(Pro3736Leu)" "" "0000861091" "00016320" "30" "11288" "0" "11288" "0" "c.11288C>T" "r.(?)" "p.(Pro3763Leu)" "" "0000861092" "00025657" "30" "10716" "0" "10716" "0" "c.10716C>T" "r.(?)" "p.(Ile3572=)" "" "0000861092" "00016320" "30" "10797" "0" "10797" "0" "c.10797C>T" "r.(?)" "p.(Ile3599=)" "" "0000861093" "00025657" "50" "10172" "0" "10172" "0" "c.10172C>T" "r.(?)" "p.(Ala3391Val)" "" "0000861093" "00016320" "50" "10253" "0" "10253" "0" "c.10253C>T" "r.(?)" "p.(Ala3418Val)" "" "0000861094" "00025657" "30" "10116" "0" "10116" "0" "c.10116C>T" "r.(?)" "p.(Tyr3372=)" "" "0000861094" "00016320" "30" "10197" "0" "10197" "0" "c.10197C>T" "r.(?)" "p.(Tyr3399=)" "" "0000861095" "00025657" "30" "9895" "0" "9895" "0" "c.9895C>T" "r.(?)" "p.(Arg3299Trp)" "" "0000861095" "00016320" "30" "9976" "0" "9976" "0" "c.9976C>T" "r.(?)" "p.(Arg3326Trp)" "" "0000861096" "00025657" "30" "9841" "0" "9841" "0" "c.9841G>A" "r.(?)" "p.(Val3281Met)" "" "0000861096" "00016320" "30" "9922" "0" "9922" "0" "c.9922G>A" "r.(?)" "p.(Val3308Met)" "" "0000861097" "00025657" "30" "9726" "0" "9726" "0" "c.9726C>T" "r.(?)" "p.(Pro3242=)" "" "0000861097" "00016320" "30" "9807" "0" "9807" "0" "c.9807C>T" "r.(?)" "p.(Pro3269=)" "" "0000861098" "00025657" "30" "9474" "0" "9474" "0" "c.9474C>T" "r.(?)" "p.(Cys3158=)" "" "0000861098" "00016320" "30" "9555" "0" "9555" "0" "c.9555C>T" "r.(?)" "p.(Cys3185=)" "" "0000861099" "00025657" "30" "9351" "0" "9351" "0" "c.9351C>T" "r.(?)" "p.(Phe3117=)" "" "0000861099" "00016320" "30" "9432" "0" "9432" "0" "c.9432C>T" "r.(?)" "p.(Phe3144=)" "" "0000861100" "00025657" "30" "7951" "0" "7951" "0" "c.7951C>T" "r.(?)" "p.(Arg2651Trp)" "" "0000861100" "00016320" "30" "8032" "0" "8032" "0" "c.8032C>T" "r.(?)" "p.(Arg2678Trp)" "" "0000861101" "00025657" "30" "7923" "0" "7923" "0" "c.7923G>T" "r.(?)" "p.(Glu2641Asp)" "" "0000861101" "00016320" "30" "8004" "0" "8004" "0" "c.8004G>T" "r.(?)" "p.(Glu2668Asp)" "" "0000861102" "00025657" "50" "7538" "0" "7538" "0" "c.7538A>C" "r.(?)" "p.(Lys2513Thr)" "" "0000861102" "00016320" "50" "7619" "0" "7619" "0" "c.7619A>C" "r.(?)" "p.(Lys2540Thr)" "" "0000861103" "00025657" "50" "7537" "0" "7537" "0" "c.7537A>G" "r.(?)" "p.(Lys2513Glu)" "" "0000861103" "00016320" "50" "7618" "0" "7618" "0" "c.7618A>G" "r.(?)" "p.(Lys2540Glu)" "" "0000861104" "00025657" "30" "7267" "0" "7267" "0" "c.7267G>A" "r.(?)" "p.(Ala2423Thr)" "" "0000861104" "00016320" "30" "7348" "0" "7348" "0" "c.7348G>A" "r.(?)" "p.(Ala2450Thr)" "" "0000861106" "00025657" "30" "6594" "0" "6594" "0" "c.6594C>T" "r.(?)" "p.(Thr2198=)" "" "0000861106" "00016320" "30" "6675" "0" "6675" "0" "c.6675C>T" "r.(?)" "p.(Thr2225=)" "" "0000861107" "00025657" "30" "6536" "0" "6536" "0" "c.6536G>A" "r.(?)" "p.(Arg2179Gln)" "" "0000861107" "00016320" "30" "6617" "0" "6617" "0" "c.6617G>A" "r.(?)" "p.(Arg2206Gln)" "" "0000861108" "00025657" "30" "6387" "0" "6392" "0" "c.6387_6392dup" "r.(?)" "p.(Gln2132_Ala2133dup)" "" "0000861108" "00016320" "30" "6468" "0" "6473" "0" "c.6468_6473dup" "r.(?)" "p.(Gln2159_Ala2160dup)" "" "0000861109" "00025657" "30" "6223" "0" "6223" "0" "c.6223G>A" "r.(?)" "p.(Val2075Met)" "" "0000861109" "00016320" "30" "6304" "0" "6304" "0" "c.6304G>A" "r.(?)" "p.(Val2102Met)" "" "0000861110" "00025657" "30" "6069" "0" "6069" "0" "c.6069C>G" "r.(?)" "p.(Arg2023=)" "" "0000861110" "00016320" "30" "6150" "0" "6150" "0" "c.6150C>G" "r.(?)" "p.(Arg2050=)" "" "0000861111" "00025657" "30" "5028" "0" "5028" "0" "c.5028C>T" "r.(?)" "p.(Arg1676=)" "" "0000861111" "00016320" "30" "5109" "0" "5109" "0" "c.5109C>T" "r.(?)" "p.(Arg1703=)" "" "0000861112" "00025657" "30" "4728" "0" "4728" "0" "c.4728G>A" "r.(?)" "p.(Ala1576=)" "" "0000861112" "00016320" "30" "4809" "0" "4809" "0" "c.4809G>A" "r.(?)" "p.(Ala1603=)" "" "0000861113" "00025657" "50" "4580" "0" "4580" "0" "c.4580C>T" "r.(?)" "p.(Ala1527Val)" "" "0000861113" "00016320" "50" "4661" "0" "4661" "0" "c.4661C>T" "r.(?)" "p.(Ala1554Val)" "" "0000861114" "00025657" "50" "4538" "0" "4538" "0" "c.4538C>T" "r.(?)" "p.(Ala1513Val)" "" "0000861114" "00016320" "50" "4619" "0" "4619" "0" "c.4619C>T" "r.(?)" "p.(Ala1540Val)" "" "0000861115" "00025657" "30" "4351" "0" "4351" "0" "c.4351G>A" "r.(?)" "p.(Glu1451Lys)" "" "0000861115" "00016320" "30" "4432" "0" "4432" "0" "c.4432G>A" "r.(?)" "p.(Glu1478Lys)" "" "0000861116" "00025657" "30" "3375" "0" "3375" "0" "c.3375C>G" "r.(?)" "p.(Leu1125=)" "" "0000861116" "00016320" "30" "3456" "0" "3456" "0" "c.3456C>G" "r.(?)" "p.(Leu1152=)" "" "0000861117" "00025657" "50" "3298" "0" "3298" "0" "c.3298G>C" "r.(?)" "p.(Gly1100Arg)" "" "0000861117" "00016320" "50" "3379" "0" "3379" "0" "c.3379G>C" "r.(?)" "p.(Gly1127Arg)" "" "0000861118" "00025657" "30" "3210" "0" "3210" "0" "c.3210G>A" "r.(?)" "p.(Thr1070=)" "" "0000861118" "00016320" "30" "3291" "0" "3291" "0" "c.3291G>A" "r.(?)" "p.(Thr1097=)" "" "0000861119" "00025657" "30" "2064" "0" "2064" "0" "c.2064G>A" "r.(?)" "p.(Pro688=)" "" "0000861119" "00016320" "30" "2145" "0" "2145" "0" "c.2145G>A" "r.(?)" "p.(Pro715=)" "" "0000861120" "00025657" "30" "1506" "0" "1506" "0" "c.1506G>C" "r.(?)" "p.(Gln502His)" "" "0000861120" "00016320" "30" "1587" "0" "1587" "0" "c.1587G>C" "r.(?)" "p.(Gln529His)" "" "0000861121" "00025657" "30" "1470" "0" "1470" "0" "c.1470A>G" "r.(?)" "p.(Leu490=)" "" "0000861121" "00016320" "30" "1551" "0" "1551" "0" "c.1551A>G" "r.(?)" "p.(Leu517=)" "" "0000861122" "00025657" "30" "1418" "19" "1418" "19" "c.1418+19T>A" "r.(=)" "p.(=)" "" "0000861122" "00016320" "30" "1499" "19" "1499" "19" "c.1499+19T>A" "r.(=)" "p.(=)" "" "0000861123" "00025657" "90" "535" "0" "535" "0" "c.535C>T" "r.(?)" "p.(Arg179*)" "" "0000861123" "00016320" "90" "616" "0" "616" "0" "c.616C>T" "r.(?)" "p.(Arg206*)" "" "0000861124" "00025657" "30" "58" "0" "58" "0" "c.58A>G" "r.(?)" "p.(Ser20Gly)" "" "0000861124" "00016320" "30" "194" "-712" "194" "-712" "c.194-712A>G" "r.(=)" "p.(=)" "" "0000888198" "00025657" "30" "13479" "0" "13479" "0" "c.13479G>A" "r.(?)" "p.(Ser4493=)" "" "0000888198" "00016320" "30" "13560" "0" "13560" "0" "c.13560G>A" "r.(?)" "p.(Ser4520=)" "" "0000888199" "00025657" "90" "12943" "0" "12943" "0" "c.12943C>T" "r.(?)" "p.(Gln4315*)" "" "0000888199" "00016320" "90" "13024" "0" "13024" "0" "c.13024C>T" "r.(?)" "p.(Gln4342*)" "" "0000888200" "00025657" "50" "12863" "0" "12863" "0" "c.12863C>T" "r.(?)" "p.(Thr4288Met)" "" "0000888200" "00016320" "50" "12944" "0" "12944" "0" "c.12944C>T" "r.(?)" "p.(Thr4315Met)" "" "0000888201" "00025657" "50" "11596" "0" "11596" "0" "c.11596C>T" "r.(?)" "p.(Arg3866Cys)" "" "0000888201" "00016320" "50" "11677" "0" "11677" "0" "c.11677C>T" "r.(?)" "p.(Arg3893Cys)" "" "0000888202" "00025657" "30" "11283" "0" "11283" "0" "c.11283G>C" "r.(?)" "p.(Leu3761=)" "" "0000888202" "00016320" "30" "11364" "0" "11364" "0" "c.11364G>C" "r.(?)" "p.(Leu3788=)" "" "0000888203" "00025657" "30" "10716" "0" "10716" "0" "c.10716C>T" "r.(?)" "p.(Ile3572=)" "" "0000888203" "00016320" "30" "10797" "0" "10797" "0" "c.10797C>T" "r.(?)" "p.(Ile3599=)" "" "0000888204" "00025657" "30" "9105" "0" "9105" "0" "c.9105G>T" "r.(?)" "p.(Gly3035=)" "" "0000888204" "00016320" "30" "9186" "0" "9186" "0" "c.9186G>T" "r.(?)" "p.(Gly3062=)" "" "0000888205" "00025657" "30" "8644" "0" "8644" "0" "c.8644C>T" "r.(?)" "p.(Leu2882=)" "" "0000888205" "00016320" "30" "8725" "0" "8725" "0" "c.8725C>T" "r.(?)" "p.(Leu2909=)" "" "0000888206" "00025657" "50" "7669" "0" "7669" "0" "c.7669C>T" "r.(?)" "p.(Arg2557Trp)" "" "0000888206" "00016320" "50" "7750" "0" "7750" "0" "c.7750C>T" "r.(?)" "p.(Arg2584Trp)" "" "0000888207" "00025657" "50" "6380" "0" "6380" "0" "c.6380C>T" "r.(?)" "p.(Ala2127Val)" "" "0000888207" "00016320" "50" "6461" "0" "6461" "0" "c.6461C>T" "r.(?)" "p.(Ala2154Val)" "" "0000888208" "00025657" "10" "6311" "0" "6311" "0" "c.6311C>T" "r.(?)" "p.(Ala2104Val)" "" "0000888208" "00016320" "10" "6392" "0" "6392" "0" "c.6392C>T" "r.(?)" "p.(Ala2131Val)" "" "0000888209" "00025657" "30" "6099" "0" "6099" "0" "c.6099G>A" "r.(?)" "p.(Ala2033=)" "" "0000888209" "00016320" "30" "6180" "0" "6180" "0" "c.6180G>A" "r.(?)" "p.(Ala2060=)" "" "0000888210" "00025657" "50" "6062" "0" "6062" "0" "c.6062C>T" "r.(?)" "p.(Ala2021Val)" "" "0000888210" "00016320" "50" "6143" "0" "6143" "0" "c.6143C>T" "r.(?)" "p.(Ala2048Val)" "" "0000888211" "00025657" "30" "5471" "0" "5471" "0" "c.5471C>T" "r.(?)" "p.(Ala1824Val)" "" "0000888211" "00016320" "30" "5552" "0" "5552" "0" "c.5552C>T" "r.(?)" "p.(Ala1851Val)" "" "0000888212" "00025657" "30" "4707" "0" "4707" "0" "c.4707G>C" "r.(?)" "p.(Thr1569=)" "" "0000888212" "00016320" "30" "4788" "0" "4788" "0" "c.4788G>C" "r.(?)" "p.(Thr1596=)" "" "0000888213" "00025657" "30" "4598" "0" "4598" "0" "c.4598G>A" "r.(?)" "p.(Arg1533Gln)" "" "0000888213" "00016320" "30" "4679" "0" "4679" "0" "c.4679G>A" "r.(?)" "p.(Arg1560Gln)" "" "0000888214" "00025657" "50" "4498" "0" "4498" "0" "c.4498C>T" "r.(?)" "p.(Arg1500Trp)" "" "0000888214" "00016320" "50" "4579" "0" "4579" "0" "c.4579C>T" "r.(?)" "p.(Arg1527Trp)" "" "0000888215" "00025657" "30" "4410" "0" "4410" "0" "c.4410G>A" "r.(?)" "p.(Gly1470=)" "" "0000888215" "00016320" "30" "4491" "0" "4491" "0" "c.4491G>A" "r.(?)" "p.(Gly1497=)" "" "0000888216" "00025657" "30" "4410" "0" "4410" "0" "c.4410G>A" "r.(?)" "p.(Gly1470=)" "" "0000888216" "00016320" "30" "4491" "0" "4491" "0" "c.4491G>A" "r.(?)" "p.(Gly1497=)" "" "0000888217" "00025657" "50" "3637" "0" "3637" "0" "c.3637C>T" "r.(?)" "p.(Arg1213Cys)" "" "0000888217" "00016320" "50" "3718" "0" "3718" "0" "c.3718C>T" "r.(?)" "p.(Arg1240Cys)" "" "0000888218" "00025657" "50" "3434" "0" "3434" "0" "c.3434C>T" "r.(?)" "p.(Thr1145Met)" "" "0000888218" "00016320" "50" "3515" "0" "3515" "0" "c.3515C>T" "r.(?)" "p.(Thr1172Met)" "" "0000888219" "00025657" "50" "3368" "0" "3368" "0" "c.3368C>T" "r.(?)" "p.(Pro1123Leu)" "" "0000888219" "00016320" "50" "3449" "0" "3449" "0" "c.3449C>T" "r.(?)" "p.(Pro1150Leu)" "" "0000888220" "00025657" "50" "2704" "0" "2704" "0" "c.2704G>A" "r.(?)" "p.(Asp902Asn)" "" "0000888220" "00016320" "50" "2785" "0" "2785" "0" "c.2785G>A" "r.(?)" "p.(Asp929Asn)" "" "0000888221" "00025657" "50" "767" "0" "767" "0" "c.767C>T" "r.(?)" "p.(Ser256Leu)" "" "0000888221" "00016320" "50" "848" "0" "848" "0" "c.848C>T" "r.(?)" "p.(Ser283Leu)" "" "0000912892" "00025657" "50" "11066" "0" "11066" "0" "c.11066C>T" "r.(?)" "p.(Thr3689Met)" "" "0000912892" "00016320" "50" "11147" "0" "11147" "0" "c.11147C>T" "r.(?)" "p.(Thr3716Met)" "" "0000912893" "00025657" "10" "9945" "0" "9945" "0" "c.9945C>T" "r.(?)" "p.(Ser3315=)" "" "0000912893" "00016320" "10" "10026" "0" "10026" "0" "c.10026C>T" "r.(?)" "p.(Ser3342=)" "" "0000912894" "00025657" "50" "6736" "0" "6736" "0" "c.6736C>T" "r.(?)" "p.(Arg2246Cys)" "" "0000912894" "00016320" "50" "6817" "0" "6817" "0" "c.6817C>T" "r.(?)" "p.(Arg2273Cys)" "" "0000912895" "00025657" "30" "5024" "0" "5024" "0" "c.5024G>A" "r.(?)" "p.(Arg1675Gln)" "" "0000912895" "00016320" "30" "5105" "0" "5105" "0" "c.5105G>A" "r.(?)" "p.(Arg1702Gln)" "" "0000912896" "00025657" "50" "4672" "0" "4672" "0" "c.4672G>C" "r.(?)" "p.(Glu1558Gln)" "" "0000912896" "00016320" "50" "4753" "0" "4753" "0" "c.4753G>C" "r.(?)" "p.(Glu1585Gln)" "" "0000912897" "00025657" "30" "4524" "0" "4524" "0" "c.4524G>A" "r.(?)" "p.(Gln1508=)" "" "0000912897" "00016320" "30" "4605" "0" "4605" "0" "c.4605G>A" "r.(?)" "p.(Gln1535=)" "" "0000912898" "00025657" "30" "3070" "0" "3070" "0" "c.3070G>A" "r.(?)" "p.(Ala1024Thr)" "" "0000912898" "00016320" "30" "3151" "0" "3151" "0" "c.3151G>A" "r.(?)" "p.(Ala1051Thr)" "" "0000912899" "00025657" "30" "2548" "0" "2548" "0" "c.2548G>A" "r.(?)" "p.(Ala850Thr)" "" "0000912899" "00016320" "30" "2629" "0" "2629" "0" "c.2629G>A" "r.(?)" "p.(Ala877Thr)" "" "0000912900" "00025657" "50" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Arg396His)" "" "0000912900" "00016320" "50" "1268" "0" "1268" "0" "c.1268G>A" "r.(?)" "p.(Arg423His)" "" "0000917170" "00025657" "50" "12634" "0" "12634" "0" "c.12634C>T" "r.(?)" "p.(Arg4212Cys)" "" "0000917172" "00025657" "50" "12778" "0" "12778" "0" "c.12778G>T" "r.(?)" "p.(Val4260Leu)" "" "0000924832" "00025657" "50" "13586" "0" "13586" "0" "c.13586G>A" "r.(?)" "p.(Arg4529His)" "" "0000924832" "00016320" "50" "13667" "0" "13667" "0" "c.13667G>A" "r.(?)" "p.(Arg4556His)" "" "0000924833" "00025657" "30" "10203" "0" "10203" "0" "c.10203C>T" "r.(?)" "p.(Pro3401=)" "" "0000924833" "00016320" "30" "10284" "0" "10284" "0" "c.10284C>T" "r.(?)" "p.(Pro3428=)" "" "0000924834" "00025657" "30" "8506" "0" "8506" "0" "c.8506G>A" "r.(?)" "p.(Asp2836Asn)" "" "0000924834" "00016320" "30" "8587" "0" "8587" "0" "c.8587G>A" "r.(?)" "p.(Asp2863Asn)" "" "0000924835" "00025657" "30" "8175" "0" "8175" "0" "c.8175G>A" "r.(?)" "p.(Thr2725=)" "" "0000924835" "00016320" "30" "8256" "0" "8256" "0" "c.8256G>A" "r.(?)" "p.(Thr2752=)" "" "0000924836" "00025657" "50" "6545" "0" "6545" "0" "c.6545C>T" "r.(?)" "p.(Ala2182Val)" "" "0000924836" "00016320" "50" "6626" "0" "6626" "0" "c.6626C>T" "r.(?)" "p.(Ala2209Val)" "" "0000924837" "00025657" "30" "6096" "0" "6096" "0" "c.6096G>A" "r.(?)" "p.(Ser2032=)" "" "0000924837" "00016320" "30" "6177" "0" "6177" "0" "c.6177G>A" "r.(?)" "p.(Ser2059=)" "" "0000924838" "00025657" "50" "5918" "0" "5918" "0" "c.5918G>A" "r.(?)" "p.(Arg1973Gln)" "" "0000924838" "00016320" "50" "5999" "0" "5999" "0" "c.5999G>A" "r.(?)" "p.(Arg2000Gln)" "" "0000929418" "00025657" "30" "12475" "0" "12475" "0" "c.12475C>T" "r.(?)" "p.(Arg4159Cys)" "" "0000929418" "00016320" "30" "12556" "0" "12556" "0" "c.12556C>T" "r.(?)" "p.(Arg4186Cys)" "" "0000929419" "00025657" "30" "9895" "0" "9895" "0" "c.9895C>T" "r.(?)" "p.(Arg3299Trp)" "" "0000929419" "00016320" "30" "9976" "0" "9976" "0" "c.9976C>T" "r.(?)" "p.(Arg3326Trp)" "" "0000929420" "00025657" "50" "8630" "0" "8630" "0" "c.8630C>T" "r.(?)" "p.(Thr2877Met)" "" "0000929420" "00016320" "50" "8711" "0" "8711" "0" "c.8711C>T" "r.(?)" "p.(Thr2904Met)" "" "0000929421" "00025657" "30" "8509" "0" "8509" "0" "c.8509G>A" "r.(?)" "p.(Glu2837Lys)" "" "0000929421" "00016320" "30" "8590" "0" "8590" "0" "c.8590G>A" "r.(?)" "p.(Glu2864Lys)" "" "0000933952" "00025657" "90" "11893" "0" "11893" "0" "c.11893G>T" "r.(?)" "p.(Glu3965*)" "" "0000933952" "00016320" "90" "11974" "0" "11974" "0" "c.11974G>T" "r.(?)" "p.(Glu3992*)" "" "0000933953" "00025657" "70" "11893" "0" "11893" "0" "c.11893G>T" "r.(?)" "p.(Glu3965*)" "" "0000933953" "00016320" "70" "11974" "0" "11974" "0" "c.11974G>T" "r.(?)" "p.(Glu3992*)" "" "0000936175" "00025657" "50" "12634" "0" "12634" "0" "c.12634C>T" "r.(?)" "p.(Arg4212Cys)" "" "0000936177" "00025657" "50" "12778" "0" "12778" "0" "c.12778G>T" "r.(?)" "p.(Val4260Leu)" "" "0000946017" "00025657" "90" "11422" "0" "11422" "0" "c.11422G>A" "r.(?)" "p.(Gly3808Ser)" "" "0000946165" "00025657" "90" "4069" "0" "4069" "0" "c.4069del" "r.(?)" "p.(Glu1357ArgfsTer165)" "" "0000949033" "00025657" "50" "12430" "0" "12430" "0" "c.12430G>A" "r.(?)" "p.(Val4144Met)" "" "0000949033" "00016320" "50" "12511" "0" "12511" "0" "c.12511G>A" "r.(?)" "p.(Val4171Met)" "" "0000949034" "00025657" "30" "10551" "0" "10551" "0" "c.10551G>A" "r.(?)" "p.(=)" "" "0000949034" "00016320" "30" "10632" "0" "10632" "0" "c.10632G>A" "r.(?)" "p.(=)" "" "0000949035" "00025657" "50" "6416" "0" "6416" "0" "c.6416G>A" "r.(?)" "p.(Arg2139His)" "" "0000949035" "00016320" "50" "6497" "0" "6497" "0" "c.6497G>A" "r.(?)" "p.(Arg2166His)" "" "0000949036" "00025657" "50" "6001" "0" "6001" "0" "c.6001G>A" "r.(?)" "p.(Ala2001Thr)" "" "0000949036" "00016320" "50" "6082" "0" "6082" "0" "c.6082G>A" "r.(?)" "p.(Ala2028Thr)" "" "0000949037" "00025657" "30" "5655" "0" "5655" "0" "c.5655G>A" "r.(?)" "p.(=)" "" "0000949037" "00016320" "30" "5736" "0" "5736" "0" "c.5736G>A" "r.(?)" "p.(=)" "" "0000949038" "00025657" "30" "4854" "0" "4854" "0" "c.4854C>T" "r.(?)" "p.(=)" "" "0000949038" "00016320" "30" "4935" "0" "4935" "0" "c.4935C>T" "r.(?)" "p.(=)" "" "0000949039" "00025657" "30" "2458" "-8" "2458" "-8" "c.2458-8C>T" "r.(=)" "p.(=)" "" "0000949039" "00016320" "30" "2539" "-8" "2539" "-8" "c.2539-8C>T" "r.(=)" "p.(=)" "" "0000949040" "00025657" "30" "1629" "0" "1629" "0" "c.1629G>T" "r.(?)" "p.(Glu543Asp)" "" "0000949040" "00016320" "30" "1710" "0" "1710" "0" "c.1710G>T" "r.(?)" "p.(Glu570Asp)" "" "0000949041" "00025657" "30" "1418" "10" "1418" "10" "c.1418+10G>C" "r.(=)" "p.(=)" "" "0000949041" "00016320" "30" "1499" "10" "1499" "10" "c.1499+10G>C" "r.(=)" "p.(=)" "" "0000949042" "00025657" "30" "1284" "0" "1284" "0" "c.1284A>G" "r.(?)" "p.(=)" "" "0000949042" "00016320" "30" "1365" "0" "1365" "0" "c.1365A>G" "r.(?)" "p.(=)" "" "0000949043" "00025657" "90" "46" "0" "46" "0" "c.46C>T" "r.(?)" "p.(Arg16*)" "" "0000949043" "00016320" "90" "194" "-724" "194" "-724" "c.194-724C>T" "r.(=)" "p.(=)" "" "0000949044" "00025657" "30" "-10941" "0" "-10941" "0" "c.-10941G>A" "r.(?)" "p.(=)" "" "0000949044" "00016320" "30" "194" "-11710" "194" "-11710" "c.194-11710G>A" "r.(=)" "p.(=)" "" "0000957830" "00025657" "70" "6062" "0" "6062" "0" "c.6062C>T" "r.(?)" "p.(Ala2021Val)" "" "0000957917" "00025657" "50" "-3002" "0" "-3002" "0" "c.-3002G>A" "r.(=)" "p.(=)" "" "0000957917" "00016320" "50" "194" "-3771" "194" "-3771" "c.194-3771G>A" "r.(=)" "p.(=)" "" "0000964863" "00025657" "30" "10731" "0" "10731" "0" "c.10731C>T" "r.(?)" "p.(=)" "" "0000964863" "00016320" "30" "10812" "0" "10812" "0" "c.10812C>T" "r.(?)" "p.(=)" "" "0000964870" "00025657" "30" "9081" "0" "9081" "0" "c.9081G>A" "r.(?)" "p.(Ala3027=)" "" "0000964870" "00016320" "30" "9162" "0" "9162" "0" "c.9162G>A" "r.(?)" "p.(Ala3054=)" "" "0000964872" "00025657" "50" "8174" "0" "8174" "0" "c.8174C>T" "r.(?)" "p.(Thr2725Met)" "" "0000964872" "00016320" "50" "8255" "0" "8255" "0" "c.8255C>T" "r.(?)" "p.(Thr2752Met)" "" "0000964875" "00025657" "50" "7676" "0" "7676" "0" "c.7676A>G" "r.(?)" "p.(Gln2559Arg)" "" "0000964875" "00016320" "50" "7757" "0" "7757" "0" "c.7757A>G" "r.(?)" "p.(Gln2586Arg)" "" "0000964877" "00025657" "90" "7294" "0" "7294" "0" "c.7294C>T" "r.(?)" "p.(Gln2432*)" "" "0000964877" "00016320" "90" "7375" "0" "7375" "0" "c.7375C>T" "r.(?)" "p.(Gln2459*)" "" "0000964881" "00025657" "30" "6426" "0" "6426" "0" "c.6426C>T" "r.(?)" "p.(Ala2142=)" "" "0000964881" "00016320" "30" "6507" "0" "6507" "0" "c.6507C>T" "r.(?)" "p.(Ala2169=)" "" "0000964890" "00025657" "50" "5156" "0" "5156" "0" "c.5156G>A" "r.(?)" "p.(Arg1719Gln)" "" "0000964890" "00016320" "50" "5237" "0" "5237" "0" "c.5237G>A" "r.(?)" "p.(Arg1746Gln)" "" "0000964895" "00025657" "30" "3171" "0" "3171" "0" "c.3171G>A" "r.(?)" "p.(Ser1057=)" "" "0000964895" "00016320" "30" "3252" "0" "3252" "0" "c.3252G>A" "r.(?)" "p.(Ser1084=)" "" "0000964897" "00025657" "30" "2924" "-20" "2924" "-20" "c.2924-20G>A" "r.(=)" "p.(=)" "" "0000964897" "00016320" "30" "3005" "-20" "3005" "-20" "c.3005-20G>A" "r.(=)" "p.(=)" "" "0000964898" "00025657" "30" "2775" "0" "2775" "0" "c.2775C>T" "r.(?)" "p.(=)" "" "0000964898" "00016320" "30" "2856" "0" "2856" "0" "c.2856C>T" "r.(?)" "p.(=)" "" "0000964899" "00025657" "30" "2541" "0" "2541" "0" "c.2541C>T" "r.(?)" "p.(=)" "" "0000964899" "00016320" "30" "2622" "0" "2622" "0" "c.2622C>T" "r.(?)" "p.(=)" "" "0000964900" "00025657" "30" "2541" "0" "2541" "0" "c.2541C>T" "r.(?)" "p.(=)" "" "0000964900" "00016320" "30" "2622" "0" "2622" "0" "c.2622C>T" "r.(?)" "p.(=)" "" "0000964901" "00025657" "30" "2083" "-20" "2083" "-20" "c.2083-20C>T" "r.(=)" "p.(=)" "" "0000964901" "00016320" "30" "2164" "-20" "2164" "-20" "c.2164-20C>T" "r.(=)" "p.(=)" "" "0000964904" "00025657" "30" "-3028" "0" "-3028" "0" "c.-3028C>G" "r.(?)" "p.(=)" "" "0000964904" "00016320" "30" "194" "-3797" "194" "-3797" "c.194-3797C>G" "r.(=)" "p.(=)" "" "0000964906" "00025657" "30" "-10999" "0" "-10999" "0" "c.-10999C>T" "r.(?)" "p.(=)" "" "0000964906" "00016320" "30" "194" "-11768" "194" "-11768" "c.194-11768C>T" "r.(=)" "p.(=)" "" "0000978077" "00025657" "50" "12217" "0" "12217" "0" "c.12217G>A" "r.(?)" "p.(Asp4073Asn)" "" "0000978077" "00016320" "50" "12298" "0" "12298" "0" "c.12298G>A" "r.(?)" "p.(Asp4100Asn)" "" "0000978078" "00025657" "50" "12187" "0" "12187" "0" "c.12187G>A" "r.(?)" "p.(Val4063Met)" "" "0000978078" "00016320" "50" "12268" "0" "12268" "0" "c.12268G>A" "r.(?)" "p.(Val4090Met)" "" "0000978079" "00025657" "50" "12121" "0" "12121" "0" "c.12121C>T" "r.(?)" "p.(Arg4041Cys)" "" "0000978079" "00016320" "50" "12202" "0" "12202" "0" "c.12202C>T" "r.(?)" "p.(Arg4068Cys)" "" "0000978080" "00025657" "50" "11365" "0" "11365" "0" "c.11365G>A" "r.(?)" "p.(Glu3789Lys)" "" "0000978080" "00016320" "50" "11446" "0" "11446" "0" "c.11446G>A" "r.(?)" "p.(Glu3816Lys)" "" "0000978081" "00025657" "50" "11278" "0" "11278" "0" "c.11278C>T" "r.(?)" "p.(Arg3760Cys)" "" "0000978081" "00016320" "50" "11359" "0" "11359" "0" "c.11359C>T" "r.(?)" "p.(Arg3787Cys)" "" "0000978082" "00025657" "50" "11219" "0" "11219" "0" "c.11219A>G" "r.(?)" "p.(Glu3740Gly)" "" "0000978082" "00016320" "50" "11300" "0" "11300" "0" "c.11300A>G" "r.(?)" "p.(Glu3767Gly)" "" "0000978083" "00025657" "50" "11077" "0" "11077" "0" "c.11077G>A" "r.(?)" "p.(Ala3693Thr)" "" "0000978083" "00016320" "50" "11158" "0" "11158" "0" "c.11158G>A" "r.(?)" "p.(Ala3720Thr)" "" "0000978084" "00025657" "50" "11021" "0" "11021" "0" "c.11021G>A" "r.(?)" "p.(Arg3674His)" "" "0000978084" "00016320" "50" "11102" "0" "11102" "0" "c.11102G>A" "r.(?)" "p.(Arg3701His)" "" "0000978085" "00025657" "50" "10931" "0" "10931" "0" "c.10931G>A" "r.(?)" "p.(Arg3644His)" "" "0000978085" "00016320" "50" "11012" "0" "11012" "0" "c.11012G>A" "r.(?)" "p.(Arg3671His)" "" "0000978086" "00025657" "50" "9853" "0" "9853" "0" "c.9853A>T" "r.(?)" "p.(Ile3285Phe)" "" "0000978086" "00016320" "50" "9934" "0" "9934" "0" "c.9934A>T" "r.(?)" "p.(Ile3312Phe)" "" "0000978087" "00025657" "50" "9604" "0" "9604" "0" "c.9604G>A" "r.(?)" "p.(Asp3202Asn)" "" "0000978087" "00016320" "50" "9685" "0" "9685" "0" "c.9685G>A" "r.(?)" "p.(Asp3229Asn)" "" "0000978088" "00025657" "10" "9423" "0" "9423" "0" "c.9423C>T" "r.(?)" "p.(=)" "" "0000978088" "00016320" "10" "9504" "0" "9504" "0" "c.9504C>T" "r.(?)" "p.(=)" "" "0000978089" "00025657" "50" "9167" "0" "9167" "0" "c.9167C>A" "r.(?)" "p.(Ala3056Asp)" "" "0000978089" "00016320" "50" "9248" "0" "9248" "0" "c.9248C>A" "r.(?)" "p.(Ala3083Asp)" "" "0000978090" "00025657" "50" "9085" "0" "9085" "0" "c.9085G>A" "r.(?)" "p.(Val3029Ile)" "" "0000978090" "00016320" "50" "9166" "0" "9166" "0" "c.9166G>A" "r.(?)" "p.(Val3056Ile)" "" "0000978091" "00025657" "50" "8470" "0" "8470" "0" "c.8470G>A" "r.(?)" "p.(Val2824Met)" "" "0000978091" "00016320" "50" "8551" "0" "8551" "0" "c.8551G>A" "r.(?)" "p.(Val2851Met)" "" "0000978092" "00025657" "50" "7120" "0" "7120" "0" "c.7120C>T" "r.(?)" "p.(Arg2374Trp)" "" "0000978092" "00016320" "50" "7201" "0" "7201" "0" "c.7201C>T" "r.(?)" "p.(Arg2401Trp)" "" "0000978093" "00025657" "50" "6867" "0" "6867" "0" "c.6867G>C" "r.(?)" "p.(Glu2289Asp)" "" "0000978093" "00016320" "50" "6948" "0" "6948" "0" "c.6948G>C" "r.(?)" "p.(Glu2316Asp)" "" "0000978094" "00025657" "50" "6662" "0" "6662" "0" "c.6662G>A" "r.(?)" "p.(Arg2221His)" "" "0000978094" "00016320" "50" "6743" "0" "6743" "0" "c.6743G>A" "r.(?)" "p.(Arg2248His)" "" "0000978095" "00025657" "50" "5948" "0" "5948" "0" "c.5948G>A" "r.(?)" "p.(Arg1983His)" "" "0000978095" "00016320" "50" "6029" "0" "6029" "0" "c.6029G>A" "r.(?)" "p.(Arg2010His)" "" "0000978096" "00025657" "50" "5762" "0" "5762" "0" "c.5762G>A" "r.(?)" "p.(Arg1921Gln)" "" "0000978096" "00016320" "50" "5843" "0" "5843" "0" "c.5843G>A" "r.(?)" "p.(Arg1948Gln)" "" "0000978097" "00025657" "50" "5390" "0" "5390" "0" "c.5390G>A" "r.(?)" "p.(Arg1797His)" "" "0000978097" "00016320" "50" "5471" "0" "5471" "0" "c.5471G>A" "r.(?)" "p.(Arg1824His)" "" "0000978098" "00025657" "50" "5053" "0" "5053" "0" "c.5053C>T" "r.(?)" "p.(Arg1685Trp)" "" "0000978098" "00016320" "50" "5134" "0" "5134" "0" "c.5134C>T" "r.(?)" "p.(Arg1712Trp)" "" "0000978099" "00025657" "30" "4833" "0" "4833" "0" "c.4833G>A" "r.(?)" "p.(Glu1611=)" "" "0000978099" "00016320" "30" "4914" "0" "4914" "0" "c.4914G>A" "r.(?)" "p.(Glu1638=)" "" "0000978100" "00025657" "50" "4568" "0" "4568" "0" "c.4568C>T" "r.(?)" "p.(Ala1523Val)" "" "0000978100" "00016320" "50" "4649" "0" "4649" "0" "c.4649C>T" "r.(?)" "p.(Ala1550Val)" "" "0000978101" "00025657" "10" "3869" "0" "3869" "0" "c.3869A>G" "r.(?)" "p.(Lys1290Arg)" "" "0000978101" "00016320" "10" "3950" "0" "3950" "0" "c.3950A>G" "r.(?)" "p.(Lys1317Arg)" "" "0000978102" "00025657" "50" "2434" "0" "2434" "0" "c.2434G>C" "r.(?)" "p.(Val812Leu)" "" "0000978102" "00016320" "50" "2515" "0" "2515" "0" "c.2515G>C" "r.(?)" "p.(Val839Leu)" "" "0000978103" "00025657" "50" "2410" "0" "2410" "0" "c.2410C>T" "r.(?)" "p.(Arg804Trp)" "" "0000978103" "00016320" "50" "2491" "0" "2491" "0" "c.2491C>T" "r.(?)" "p.(Arg831Trp)" "" "0000978104" "00025657" "50" "2165" "0" "2165" "0" "c.2165C>T" "r.(?)" "p.(Ala722Val)" "" "0000978104" "00016320" "50" "2246" "0" "2246" "0" "c.2246C>T" "r.(?)" "p.(Ala749Val)" "" "0000978105" "00025657" "50" "2024" "0" "2024" "0" "c.2024T>C" "r.(?)" "p.(Leu675Pro)" "" "0000978105" "00016320" "50" "2105" "0" "2105" "0" "c.2105T>C" "r.(?)" "p.(Leu702Pro)" "" "0000978106" "00025657" "50" "1901" "0" "1901" "0" "c.1901A>G" "r.(?)" "p.(Glu634Gly)" "" "0000978106" "00016320" "50" "1982" "0" "1982" "0" "c.1982A>G" "r.(?)" "p.(Glu661Gly)" "" "0000978107" "00025657" "50" "1759" "0" "1759" "0" "c.1759C>T" "r.(?)" "p.(Arg587Trp)" "" "0000978107" "00016320" "50" "1840" "0" "1840" "0" "c.1840C>T" "r.(?)" "p.(Arg614Trp)" "" "0000978108" "00025657" "50" "1408" "0" "1408" "0" "c.1408A>G" "r.(?)" "p.(Met470Val)" "" "0000978108" "00016320" "50" "1489" "0" "1489" "0" "c.1489A>G" "r.(?)" "p.(Met497Val)" "" "0000978109" "00025657" "30" "1158" "0" "1158" "0" "c.1158C>G" "r.(?)" "p.(Ser386Arg)" "" "0000978109" "00016320" "30" "1239" "0" "1239" "0" "c.1239C>G" "r.(?)" "p.(Ser413Arg)" "" "0000978110" "00025657" "30" "793" "0" "793" "0" "c.793G>A" "r.(?)" "p.(Val265Met)" "" "0000978110" "00016320" "30" "874" "0" "874" "0" "c.874G>A" "r.(?)" "p.(Val292Met)" "" "0000978111" "00025657" "30" "-4308" "0" "-4308" "0" "c.-4308G>A" "r.(?)" "p.(=)" "" "0000978111" "00016320" "30" "194" "-5077" "194" "-5077" "c.194-5077G>A" "r.(=)" "p.(=)" "" "0000978112" "00025657" "50" "-4509" "0" "-4509" "0" "c.-4509C>T" "r.(?)" "p.(=)" "" "0000978112" "00016320" "50" "194" "-5278" "194" "-5278" "c.194-5278C>T" "r.(=)" "p.(=)" "" "0000978113" "00025657" "50" "-10918" "0" "-10918" "0" "c.-10918G>T" "r.(?)" "p.(=)" "" "0000978113" "00016320" "50" "194" "-11687" "194" "-11687" "c.194-11687G>T" "r.(=)" "p.(=)" "" "0000978114" "00025657" "30" "-10941" "0" "-10941" "0" "c.-10941G>T" "r.(?)" "p.(=)" "" "0000978114" "00016320" "30" "194" "-11710" "194" "-11710" "c.194-11710G>T" "r.(=)" "p.(=)" "" "0000978115" "00025657" "50" "-10950" "0" "-10950" "0" "c.-10950G>A" "r.(?)" "p.(=)" "" "0000978115" "00016320" "50" "194" "-11719" "194" "-11719" "c.194-11719G>A" "r.(=)" "p.(=)" "" "0000978116" "00025657" "50" "-11074" "0" "-11074" "0" "c.-11074C>T" "r.(?)" "p.(=)" "" "0000978116" "00016320" "50" "194" "-11843" "194" "-11843" "c.194-11843C>T" "r.(=)" "p.(=)" "" "0000996999" "00025657" "50" "13582" "0" "13582" "0" "c.13582G>A" "r.(?)" "p.(Gly4528Ser)" "" "0000996999" "00016320" "50" "13663" "0" "13663" "0" "c.13663G>A" "r.(?)" "p.(Gly4555Ser)" "" "0000997000" "00025657" "30" "12876" "0" "12876" "0" "c.12876G>A" "r.(?)" "p.(=)" "" "0000997000" "00016320" "30" "12957" "0" "12957" "0" "c.12957G>A" "r.(?)" "p.(=)" "" "0000997001" "00025657" "50" "11912" "0" "11912" "0" "c.11912C>T" "r.(?)" "p.(Ala3971Val)" "" "0000997001" "00016320" "50" "11993" "0" "11993" "0" "c.11993C>T" "r.(?)" "p.(Ala3998Val)" "" "0000997002" "00025657" "30" "11539" "0" "11539" "0" "c.11539G>A" "r.(?)" "p.(Val3847Met)" "" "0000997002" "00016320" "30" "11620" "0" "11620" "0" "c.11620G>A" "r.(?)" "p.(Val3874Met)" "" "0000997003" "00025657" "50" "10498" "0" "10498" "0" "c.10498C>T" "r.(?)" "p.(Arg3500Cys)" "" "0000997003" "00016320" "50" "10579" "0" "10579" "0" "c.10579C>T" "r.(?)" "p.(Arg3527Cys)" "" "0000997004" "00025657" "50" "10129" "0" "10129" "0" "c.10129C>T" "r.(?)" "p.(Arg3377Trp)" "" "0000997004" "00016320" "50" "10210" "0" "10210" "0" "c.10210C>T" "r.(?)" "p.(Arg3404Trp)" "" "0000997005" "00025657" "50" "9791" "0" "9791" "0" "c.9791C>T" "r.(?)" "p.(Ala3264Val)" "" "0000997005" "00016320" "50" "9872" "0" "9872" "0" "c.9872C>T" "r.(?)" "p.(Ala3291Val)" "" "0000997006" "00025657" "30" "9163" "0" "9163" "0" "c.9163G>A" "r.(?)" "p.(Val3055Met)" "" "0000997006" "00016320" "30" "9244" "0" "9244" "0" "c.9244G>A" "r.(?)" "p.(Val3082Met)" "" "0000997007" "00025657" "30" "8981" "0" "8981" "0" "c.8981G>A" "r.(?)" "p.(Arg2994His)" "" "0000997007" "00016320" "30" "9062" "0" "9062" "0" "c.9062G>A" "r.(?)" "p.(Arg3021His)" "" "0000997008" "00025657" "50" "8945" "0" "8945" "0" "c.8945C>G" "r.(?)" "p.(Pro2982Arg)" "" "0000997008" "00016320" "50" "9026" "0" "9026" "0" "c.9026C>G" "r.(?)" "p.(Pro3009Arg)" "" "0000997009" "00025657" "50" "8801" "0" "8801" "0" "c.8801C>T" "r.(?)" "p.(Thr2934Met)" "" "0000997009" "00016320" "50" "8882" "0" "8882" "0" "c.8882C>T" "r.(?)" "p.(Thr2961Met)" "" "0000997010" "00025657" "30" "8617" "0" "8617" "0" "c.8617G>A" "r.(?)" "p.(Glu2873Lys)" "" "0000997010" "00016320" "30" "8698" "0" "8698" "0" "c.8698G>A" "r.(?)" "p.(Glu2900Lys)" "" "0000997011" "00025657" "50" "8512" "0" "8514" "0" "c.8512_8514del" "r.(?)" "p.(Glu2838del)" "" "0000997011" "00016320" "50" "8593" "0" "8595" "0" "c.8593_8595del" "r.(?)" "p.(Glu2865del)" "" "0000997012" "00025657" "50" "8267" "0" "8267" "0" "c.8267A>G" "r.(?)" "p.(Glu2756Gly)" "" "0000997012" "00016320" "50" "8348" "0" "8348" "0" "c.8348A>G" "r.(?)" "p.(Glu2783Gly)" "" "0000997013" "00025657" "30" "8227" "0" "8227" "0" "c.8227G>A" "r.(?)" "p.(Val2743Met)" "" "0000997013" "00016320" "30" "8308" "0" "8308" "0" "c.8308G>A" "r.(?)" "p.(Val2770Met)" "" "0000997014" "00025657" "30" "7830" "0" "7830" "0" "c.7830G>A" "r.(?)" "p.(Ala2610=)" "" "0000997014" "00016320" "30" "7911" "0" "7911" "0" "c.7911G>A" "r.(?)" "p.(Ala2637=)" "" "0000997015" "00025657" "50" "7823" "0" "7823" "0" "c.7823C>T" "r.(?)" "p.(Ala2608Val)" "" "0000997015" "00016320" "50" "7904" "0" "7904" "0" "c.7904C>T" "r.(?)" "p.(Ala2635Val)" "" "0000997016" "00025657" "30" "7433" "0" "7433" "0" "c.7433C>T" "r.(?)" "p.(Thr2478Met)" "" "0000997016" "00016320" "30" "7514" "0" "7514" "0" "c.7514C>T" "r.(?)" "p.(Thr2505Met)" "" "0000997017" "00025657" "50" "7370" "0" "7370" "0" "c.7370G>A" "r.(?)" "p.(Arg2457His)" "" "0000997017" "00016320" "50" "7451" "0" "7451" "0" "c.7451G>A" "r.(?)" "p.(Arg2484His)" "" "0000997018" "00025657" "50" "7192" "0" "7192" "0" "c.7192C>T" "r.(?)" "p.(Arg2398Cys)" "" "0000997018" "00016320" "50" "7273" "0" "7273" "0" "c.7273C>T" "r.(?)" "p.(Arg2425Cys)" "" "0000997019" "00025657" "50" "6845" "0" "6845" "0" "c.6845G>A" "r.(?)" "p.(Arg2282Gln)" "" "0000997019" "00016320" "50" "6926" "0" "6926" "0" "c.6926G>A" "r.(?)" "p.(Arg2309Gln)" "" "0000997020" "00025657" "50" "6418" "0" "6418" "0" "c.6418A>G" "r.(?)" "p.(Lys2140Glu)" "" "0000997020" "00016320" "50" "6499" "0" "6499" "0" "c.6499A>G" "r.(?)" "p.(Lys2167Glu)" "" "0000997021" "00025657" "50" "6383" "0" "6383" "0" "c.6383G>A" "r.(?)" "p.(Arg2128Gln)" "" "0000997021" "00016320" "50" "6464" "0" "6464" "0" "c.6464G>A" "r.(?)" "p.(Arg2155Gln)" "" "0000997022" "00025657" "30" "6376" "0" "6376" "0" "c.6376C>G" "r.(?)" "p.(Gln2126Glu)" "" "0000997022" "00016320" "30" "6457" "0" "6457" "0" "c.6457C>G" "r.(?)" "p.(Gln2153Glu)" "" "0000997023" "00025657" "10" "5712" "0" "5712" "0" "c.5712C>T" "r.(?)" "p.(=)" "" "0000997023" "00016320" "10" "5793" "0" "5793" "0" "c.5793C>T" "r.(?)" "p.(=)" "" "0000997024" "00025657" "30" "5646" "0" "5646" "0" "c.5646G>C" "r.(?)" "p.(Glu1882Asp)" "" "0000997024" "00016320" "30" "5727" "0" "5727" "0" "c.5727G>C" "r.(?)" "p.(Glu1909Asp)" "" "0000997025" "00025657" "50" "5587" "0" "5613" "0" "c.5587_5613del" "r.(?)" "p.(Asn1863_Glu1871del)" "" "0000997025" "00016320" "50" "5668" "0" "5694" "0" "c.5668_5694del" "r.(?)" "p.(Asn1890_Glu1898del)" "" "0000997026" "00025657" "30" "5391" "0" "5391" "0" "c.5391C>T" "r.(?)" "p.(Arg1797=)" "" "0000997026" "00016320" "30" "5472" "0" "5472" "0" "c.5472C>T" "r.(?)" "p.(Arg1824=)" "" "0000997027" "00025657" "30" "5165" "0" "5165" "0" "c.5165C>T" "r.(?)" "p.(Thr1722Met)" "" "0000997027" "00016320" "30" "5246" "0" "5246" "0" "c.5246C>T" "r.(?)" "p.(Thr1749Met)" "" "0000997028" "00025657" "50" "5092" "0" "5092" "0" "c.5092C>T" "r.(?)" "p.(Arg1698Trp)" "" "0000997028" "00016320" "50" "5173" "0" "5173" "0" "c.5173C>T" "r.(?)" "p.(Arg1725Trp)" "" "0000997029" "00025657" "50" "5054" "0" "5054" "0" "c.5054G>A" "r.(?)" "p.(Arg1685Gln)" "" "0000997029" "00016320" "50" "5135" "0" "5135" "0" "c.5135G>A" "r.(?)" "p.(Arg1712Gln)" "" "0000997030" "00025657" "30" "5003" "0" "5003" "0" "c.5003A>C" "r.(?)" "p.(Glu1668Ala)" "" "0000997030" "00016320" "30" "5084" "0" "5084" "0" "c.5084A>C" "r.(?)" "p.(Glu1695Ala)" "" "0000997031" "00025657" "50" "4766" "0" "4766" "0" "c.4766C>T" "r.(?)" "p.(Thr1589Met)" "" "0000997031" "00016320" "50" "4847" "0" "4847" "0" "c.4847C>T" "r.(?)" "p.(Thr1616Met)" "" "0000997032" "00025657" "50" "4643" "0" "4643" "0" "c.4643C>T" "r.(?)" "p.(Ala1548Val)" "" "0000997032" "00016320" "50" "4724" "0" "4724" "0" "c.4724C>T" "r.(?)" "p.(Ala1575Val)" "" "0000997033" "00025657" "50" "4475" "0" "4475" "0" "c.4475C>A" "r.(?)" "p.(Ala1492Glu)" "" "0000997033" "00016320" "50" "4556" "0" "4556" "0" "c.4556C>A" "r.(?)" "p.(Ala1519Glu)" "" "0000997034" "00025657" "30" "3778" "0" "3778" "0" "c.3778C>G" "r.(?)" "p.(Arg1260Gly)" "" "0000997034" "00016320" "30" "3859" "0" "3859" "0" "c.3859C>G" "r.(?)" "p.(Arg1287Gly)" "" "0000997035" "00025657" "30" "3745" "0" "3745" "0" "c.3745C>A" "r.(?)" "p.(Arg1249=)" "" "0000997035" "00016320" "30" "3826" "0" "3826" "0" "c.3826C>A" "r.(?)" "p.(Arg1276=)" "" "0000997036" "00025657" "90" "3076" "0" "3076" "0" "c.3076C>T" "r.(?)" "p.(Gln1026*)" "" "0000997036" "00016320" "90" "3157" "0" "3157" "0" "c.3157C>T" "r.(?)" "p.(Gln1053*)" "" "0000997037" "00025657" "50" "3028" "0" "3033" "0" "c.3028_3033dup" "r.(?)" "p.(Pro1010_Leu1011dup)" "" "0000997037" "00016320" "50" "3109" "0" "3114" "0" "c.3109_3114dup" "r.(?)" "p.(Pro1037_Leu1038dup)" "" "0000997038" "00025657" "50" "3010" "0" "3010" "0" "c.3010G>A" "r.(?)" "p.(Val1004Met)" "" "0000997038" "00016320" "50" "3091" "0" "3091" "0" "c.3091G>A" "r.(?)" "p.(Val1031Met)" "" "0000997039" "00025657" "50" "1864" "0" "1864" "0" "c.1864G>T" "r.(?)" "p.(Val622Leu)" "" "0000997039" "00016320" "50" "1945" "0" "1945" "0" "c.1945G>T" "r.(?)" "p.(Val649Leu)" "" "0000997040" "00025657" "70" "1567" "0" "1567" "0" "c.1567C>T" "r.(?)" "p.(Arg523Cys)" "" "0000997040" "00016320" "70" "1648" "0" "1648" "0" "c.1648C>T" "r.(?)" "p.(Arg550Cys)" "" "0000997041" "00025657" "50" "1426" "0" "1426" "0" "c.1426C>T" "r.(?)" "p.(Arg476Cys)" "" "0000997041" "00016320" "50" "1507" "0" "1507" "0" "c.1507C>T" "r.(?)" "p.(Arg503Cys)" "" "0000997042" "00025657" "30" "854" "0" "854" "0" "c.854G>A" "r.(?)" "p.(Arg285Gln)" "" "0000997042" "00016320" "30" "935" "0" "935" "0" "c.935G>A" "r.(?)" "p.(Arg312Gln)" "" "0000997043" "00025657" "30" "602" "17" "602" "17" "c.602+17G>A" "r.(=)" "p.(=)" "" "0000997043" "00016320" "30" "683" "17" "683" "17" "c.683+17G>A" "r.(=)" "p.(=)" "" "0000997044" "00025657" "50" "535" "0" "535" "0" "c.535C>T" "r.(?)" "p.(Arg179*)" "" "0000997044" "00016320" "50" "616" "0" "616" "0" "c.616C>T" "r.(?)" "p.(Arg206*)" "" "0000997045" "00025657" "50" "-2949" "0" "-2949" "0" "c.-2949C>A" "r.(?)" "p.(=)" "" "0000997045" "00016320" "50" "194" "-3718" "194" "-3718" "c.194-3718C>A" "r.(=)" "p.(=)" "" "0000997046" "00025657" "50" "-10942" "0" "-10942" "0" "c.-10942C>T" "r.(?)" "p.(=)" "" "0000997046" "00016320" "50" "194" "-11711" "194" "-11711" "c.194-11711C>T" "r.(=)" "p.(=)" "" "0001008319" "00016320" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0001008320" "00016320" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0001008347" "00016320" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0001008348" "00016320" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0001014414" "00025657" "50" "13574" "0" "13574" "0" "c.13574C>T" "r.(?)" "p.(Ser4525Leu)" "" "0001014414" "00016320" "50" "13655" "0" "13655" "0" "c.13655C>T" "r.(?)" "p.(Ser4552Leu)" "" "0001014415" "00025657" "50" "13247" "0" "13247" "0" "c.13247C>T" "r.(?)" "p.(Thr4416Met)" "" "0001014415" "00016320" "50" "13328" "0" "13328" "0" "c.13328C>T" "r.(?)" "p.(Thr4443Met)" "" "0001014416" "00025657" "50" "12986" "0" "12986" "0" "c.12986G>A" "r.(?)" "p.(Arg4329His)" "" "0001014416" "00016320" "50" "13067" "0" "13067" "0" "c.13067G>A" "r.(?)" "p.(Arg4356His)" "" "0001014417" "00025657" "30" "11994" "0" "11994" "0" "c.11994C>T" "r.(?)" "p.(Pro3998=)" "" "0001014417" "00016320" "30" "12075" "0" "12075" "0" "c.12075C>T" "r.(?)" "p.(Pro4025=)" "" "0001014418" "00025657" "30" "10638" "0" "10638" "0" "c.10638G>A" "r.(?)" "p.(=)" "" "0001014418" "00016320" "30" "10719" "0" "10719" "0" "c.10719G>A" "r.(?)" "p.(=)" "" "0001014419" "00025657" "50" "9799" "0" "9799" "0" "c.9799C>T" "r.(?)" "p.(Arg3267Trp)" "" "0001014419" "00016320" "50" "9880" "0" "9880" "0" "c.9880C>T" "r.(?)" "p.(Arg3294Trp)" "" "0001014420" "00025657" "50" "9406" "0" "9406" "0" "c.9406G>A" "r.(?)" "p.(Ala3136Thr)" "" "0001014420" "00016320" "50" "9487" "0" "9487" "0" "c.9487G>A" "r.(?)" "p.(Ala3163Thr)" "" "0001014421" "00025657" "30" "6594" "0" "6594" "0" "c.6594C>T" "r.(?)" "p.(Thr2198=)" "" "0001014421" "00016320" "30" "6675" "0" "6675" "0" "c.6675C>T" "r.(?)" "p.(Thr2225=)" "" "0001014422" "00025657" "50" "3863" "0" "3863" "0" "c.3863C>T" "r.(?)" "p.(Thr1288Met)" "" "0001014422" "00016320" "50" "3944" "0" "3944" "0" "c.3944C>T" "r.(?)" "p.(Thr1315Met)" "" "0001014423" "00025657" "50" "2977" "0" "2977" "0" "c.2977C>T" "r.(?)" "p.(Arg993Trp)" "" "0001014423" "00016320" "50" "3058" "0" "3058" "0" "c.3058C>T" "r.(?)" "p.(Arg1020Trp)" "" "0001025490" "00025657" "30" "9333" "0" "9333" "0" "c.9333G>A" "r.(?)" "p.(Gly3111=)" "" "0001025490" "00016320" "30" "9414" "0" "9414" "0" "c.9414G>A" "r.(?)" "p.(Gly3138=)" "" "0001025491" "00025657" "30" "4707" "0" "4707" "0" "c.4707G>A" "r.(?)" "p.(=)" "" "0001025491" "00016320" "30" "4788" "0" "4788" "0" "c.4788G>A" "r.(?)" "p.(=)" "" "0001025492" "00025657" "30" "4651" "0" "4651" "0" "c.4651C>T" "r.(?)" "p.(Arg1551Cys)" "" "0001025492" "00016320" "30" "4732" "0" "4732" "0" "c.4732C>T" "r.(?)" "p.(Arg1578Cys)" "" "0001036787" "00025657" "50" "13633" "0" "13633" "0" "c.13633G>C" "r.(?)" "p.(Ala4545Pro)" "" "0001036787" "00016320" "50" "13714" "0" "13714" "0" "c.13714G>C" "r.(?)" "p.(Ala4572Pro)" "" "0001036788" "00025657" "50" "13458" "0" "13458" "0" "c.13458C>T" "r.(?)" "p.(=)" "" "0001036788" "00016320" "50" "13539" "0" "13539" "0" "c.13539C>T" "r.(?)" "p.(=)" "" "0001036789" "00025657" "50" "13276" "0" "13276" "0" "c.13276C>T" "r.(?)" "p.(Arg4426Cys)" "" "0001036789" "00016320" "50" "13357" "0" "13357" "0" "c.13357C>T" "r.(?)" "p.(Arg4453Cys)" "" "0001036790" "00025657" "50" "12992" "0" "12992" "0" "c.12992C>T" "r.(?)" "p.(Pro4331Leu)" "" "0001036790" "00016320" "50" "13073" "0" "13073" "0" "c.13073C>T" "r.(?)" "p.(Pro4358Leu)" "" "0001036791" "00025657" "50" "11965" "0" "11965" "0" "c.11965G>A" "r.(?)" "p.(Glu3989Lys)" "" "0001036791" "00016320" "50" "12046" "0" "12046" "0" "c.12046G>A" "r.(?)" "p.(Glu4016Lys)" "" "0001036792" "00025657" "50" "11503" "0" "11503" "0" "c.11503G>A" "r.(?)" "p.(Asp3835Asn)" "" "0001036792" "00016320" "50" "11584" "0" "11584" "0" "c.11584G>A" "r.(?)" "p.(Asp3862Asn)" "" "0001036793" "00025657" "50" "11437" "0" "11437" "0" "c.11437C>T" "r.(?)" "p.(Arg3813Cys)" "" "0001036793" "00016320" "50" "11518" "0" "11518" "0" "c.11518C>T" "r.(?)" "p.(Arg3840Cys)" "" "0001036794" "00025657" "50" "10835" "0" "10835" "0" "c.10835G>A" "r.(?)" "p.(Arg3612Gln)" "" "0001036794" "00016320" "50" "10916" "0" "10916" "0" "c.10916G>A" "r.(?)" "p.(Arg3639Gln)" "" "0001036795" "00025657" "50" "10447" "0" "10447" "0" "c.10447G>A" "r.(?)" "p.(Val3483Met)" "" "0001036795" "00016320" "50" "10528" "0" "10528" "0" "c.10528G>A" "r.(?)" "p.(Val3510Met)" "" "0001036796" "00025657" "50" "10441" "0" "10441" "0" "c.10441C>A" "r.(?)" "p.(His3481Asn)" "" "0001036796" "00016320" "50" "10522" "0" "10522" "0" "c.10522C>A" "r.(?)" "p.(His3508Asn)" "" "0001036797" "00025657" "30" "10158" "0" "10158" "0" "c.10158G>A" "r.(?)" "p.(Ala3386=)" "" "0001036797" "00016320" "30" "10239" "0" "10239" "0" "c.10239G>A" "r.(?)" "p.(Ala3413=)" "" "0001036798" "00025657" "30" "9576" "0" "9576" "0" "c.9576C>T" "r.(?)" "p.(=)" "" "0001036798" "00016320" "30" "9657" "0" "9657" "0" "c.9657C>T" "r.(?)" "p.(=)" "" "0001036799" "00025657" "50" "9529" "0" "9529" "0" "c.9529G>A" "r.(?)" "p.(Asp3177Asn)" "" "0001036799" "00016320" "50" "9610" "0" "9610" "0" "c.9610G>A" "r.(?)" "p.(Asp3204Asn)" "" "0001036800" "00025657" "50" "8512" "0" "8512" "0" "c.8512G>A" "r.(?)" "p.(Glu2838Lys)" "" "0001036800" "00016320" "50" "8593" "0" "8593" "0" "c.8593G>A" "r.(?)" "p.(Glu2865Lys)" "" "0001036801" "00025657" "50" "8416" "0" "8416" "0" "c.8416C>T" "r.(?)" "p.(=)" "" "0001036801" "00016320" "50" "8497" "0" "8497" "0" "c.8497C>T" "r.(?)" "p.(=)" "" "0001036802" "00025657" "30" "8415" "0" "8416" "0" "c.8415_8416delinsAT" "r.(?)" "p.(=)" "" "0001036802" "00016320" "30" "8496" "0" "8497" "0" "c.8496_8497delinsAT" "r.(?)" "p.(=)" "" "0001036803" "00025657" "50" "8415" "0" "8415" "0" "c.8415G>A" "r.(?)" "p.(=)" "" "0001036803" "00016320" "50" "8496" "0" "8496" "0" "c.8496G>A" "r.(?)" "p.(=)" "" "0001036804" "00025657" "50" "7121" "0" "7121" "0" "c.7121G>A" "r.(?)" "p.(Arg2374Gln)" "" "0001036804" "00016320" "50" "7202" "0" "7202" "0" "c.7202G>A" "r.(?)" "p.(Arg2401Gln)" "" "0001036805" "00025657" "50" "6755" "0" "6755" "0" "c.6755G>A" "r.(?)" "p.(Arg2252His)" "" "0001036805" "00016320" "50" "6836" "0" "6836" "0" "c.6836G>A" "r.(?)" "p.(Arg2279His)" "" "0001036806" "00025657" "50" "6494" "0" "6494" "0" "c.6494C>T" "r.(?)" "p.(Ala2165Val)" "" "0001036806" "00016320" "50" "6575" "0" "6575" "0" "c.6575C>T" "r.(?)" "p.(Ala2192Val)" "" "0001036807" "00025657" "50" "6455" "0" "6455" "0" "c.6455C>T" "r.(?)" "p.(Ala2152Val)" "" "0001036807" "00016320" "50" "6536" "0" "6536" "0" "c.6536C>T" "r.(?)" "p.(Ala2179Val)" "" "0001036808" "00025657" "30" "6426" "0" "6426" "0" "c.6426C>T" "r.(?)" "p.(Ala2142=)" "" "0001036808" "00016320" "30" "6507" "0" "6507" "0" "c.6507C>T" "r.(?)" "p.(Ala2169=)" "" "0001036809" "00025657" "30" "6169" "0" "6169" "0" "c.6169G>A" "r.(?)" "p.(Ala2057Thr)" "" "0001036809" "00016320" "30" "6250" "0" "6250" "0" "c.6250G>A" "r.(?)" "p.(Ala2084Thr)" "" "0001036810" "00025657" "50" "6074" "0" "6074" "0" "c.6074G>A" "r.(?)" "p.(Arg2025Gln)" "" "0001036810" "00016320" "50" "6155" "0" "6155" "0" "c.6155G>A" "r.(?)" "p.(Arg2052Gln)" "" "0001036811" "00025657" "50" "6062" "0" "6062" "0" "c.6062C>T" "r.(?)" "p.(Ala2021Val)" "" "0001036811" "00016320" "50" "6143" "0" "6143" "0" "c.6143C>T" "r.(?)" "p.(Ala2048Val)" "" "0001036812" "00025657" "30" "5475" "0" "5475" "0" "c.5475G>A" "r.(?)" "p.(=)" "" "0001036812" "00016320" "30" "5556" "0" "5556" "0" "c.5556G>A" "r.(?)" "p.(=)" "" "0001036813" "00025657" "50" "5444" "0" "5444" "0" "c.5444G>A" "r.(?)" "p.(Arg1815Gln)" "" "0001036813" "00016320" "50" "5525" "0" "5525" "0" "c.5525G>A" "r.(?)" "p.(Arg1842Gln)" "" "0001036814" "00025657" "50" "5390" "0" "5390" "0" "c.5390G>A" "r.(?)" "p.(Arg1797His)" "" "0001036814" "00016320" "50" "5471" "0" "5471" "0" "c.5471G>A" "r.(?)" "p.(Arg1824His)" "" "0001036815" "00025657" "50" "5333" "0" "5333" "0" "c.5333C>T" "r.(?)" "p.(Ser1778Leu)" "" "0001036815" "00016320" "50" "5414" "0" "5414" "0" "c.5414C>T" "r.(?)" "p.(Ser1805Leu)" "" "0001036816" "00025657" "50" "5048" "0" "5048" "0" "c.5048C>T" "r.(?)" "p.(Ala1683Val)" "" "0001036816" "00016320" "50" "5129" "0" "5129" "0" "c.5129C>T" "r.(?)" "p.(Ala1710Val)" "" "0001036817" "00025657" "30" "5007" "0" "5007" "0" "c.5007G>A" "r.(?)" "p.(=)" "" "0001036817" "00016320" "30" "5088" "0" "5088" "0" "c.5088G>A" "r.(?)" "p.(=)" "" "0001036818" "00025657" "50" "4715" "0" "4715" "0" "c.4715G>A" "r.(?)" "p.(Arg1572His)" "" "0001036818" "00016320" "50" "4796" "0" "4796" "0" "c.4796G>A" "r.(?)" "p.(Arg1599His)" "" "0001036819" "00025657" "50" "4091" "0" "4092" "0" "c.4091_4092insT" "r.(?)" "p.(Glu1364Aspfs*81)" "" "0001036819" "00016320" "50" "4172" "0" "4173" "0" "c.4172_4173insT" "r.(?)" "p.(Glu1391Aspfs*81)" "" "0001036820" "00025657" "30" "4080" "0" "4080" "0" "c.4080G>A" "r.(?)" "p.(=)" "" "0001036820" "00016320" "30" "4161" "0" "4161" "0" "c.4161G>A" "r.(?)" "p.(=)" "" "0001036821" "00025657" "50" "4028" "0" "4028" "0" "c.4028G>A" "r.(?)" "p.(Arg1343His)" "" "0001036821" "00016320" "50" "4109" "0" "4109" "0" "c.4109G>A" "r.(?)" "p.(Arg1370His)" "" "0001036822" "00025657" "30" "3841" "-5" "3841" "-5" "c.3841-5C>T" "r.spl?" "p.?" "" "0001036822" "00016320" "30" "3922" "-5" "3922" "-5" "c.3922-5C>T" "r.spl?" "p.?" "" "0001036823" "00025657" "30" "3787" "0" "3787" "0" "c.3787G>A" "r.(?)" "p.(Glu1263Lys)" "" "0001036823" "00016320" "30" "3868" "0" "3868" "0" "c.3868G>A" "r.(?)" "p.(Glu1290Lys)" "" "0001036824" "00025657" "50" "2941" "0" "2941" "0" "c.2941C>A" "r.(?)" "p.(Arg981Ser)" "" "0001036824" "00016320" "50" "3022" "0" "3022" "0" "c.3022C>A" "r.(?)" "p.(Arg1008Ser)" "" "0001036825" "00025657" "50" "2845" "0" "2845" "0" "c.2845G>A" "r.(?)" "p.(Glu949Lys)" "" "0001036825" "00016320" "50" "2926" "0" "2926" "0" "c.2926G>A" "r.(?)" "p.(Glu976Lys)" "" "0001036826" "00025657" "30" "2775" "0" "2775" "0" "c.2775C>T" "r.(?)" "p.(=)" "" "0001036826" "00016320" "30" "2856" "0" "2856" "0" "c.2856C>T" "r.(?)" "p.(=)" "" "0001036827" "00025657" "50" "2768" "0" "2768" "0" "c.2768G>A" "r.(?)" "p.(Arg923His)" "" "0001036827" "00016320" "50" "2849" "0" "2849" "0" "c.2849G>A" "r.(?)" "p.(Arg950His)" "" "0001036828" "00025657" "50" "934" "0" "934" "0" "c.934G>A" "r.(?)" "p.(Glu312Lys)" "" "0001036828" "00016320" "50" "1015" "0" "1015" "0" "c.1015G>A" "r.(?)" "p.(Glu339Lys)" "" "0001036829" "00025657" "50" "683" "0" "683" "0" "c.683G>A" "r.(?)" "p.(Arg228Gln)" "" "0001036829" "00016320" "50" "764" "0" "764" "0" "c.764G>A" "r.(?)" "p.(Arg255Gln)" "" "0001036830" "00025657" "30" "603" "-3" "603" "-3" "c.603-3C>T" "r.spl?" "p.?" "" "0001036830" "00016320" "30" "684" "-3" "684" "-3" "c.684-3C>T" "r.spl?" "p.?" "" "0001036831" "00025657" "10" "366" "0" "366" "0" "c.366T>C" "r.(?)" "p.(=)" "" "0001036831" "00016320" "10" "447" "0" "447" "0" "c.447T>C" "r.(?)" "p.(=)" "" "0001036832" "00025657" "30" "-2930" "0" "-2930" "0" "c.-2930G>A" "r.(?)" "p.(=)" "" "0001036832" "00016320" "30" "194" "-3699" "194" "-3699" "c.194-3699G>A" "r.(=)" "p.(=)" "" "0001036833" "00025657" "30" "-4311" "0" "-4311" "0" "c.-4311C>T" "r.(?)" "p.(=)" "" "0001036833" "00016320" "30" "194" "-5080" "194" "-5080" "c.194-5080C>T" "r.(=)" "p.(=)" "" "0001036834" "00025657" "30" "-10941" "0" "-10941" "0" "c.-10941G>A" "r.(?)" "p.(=)" "" "0001036834" "00016320" "30" "194" "-11710" "194" "-11710" "c.194-11710G>A" "r.(=)" "p.(=)" "" "0001046145" "00025657" "50" "13195" "0" "13195" "0" "c.13195G>A" "r.(?)" "p.(Glu4399Lys)" "" "0001046145" "00016320" "50" "13276" "0" "13276" "0" "c.13276G>A" "r.(?)" "p.(Glu4426Lys)" "" "0001046146" "00025657" "50" "12673" "0" "12673" "0" "c.12673G>A" "r.(?)" "p.(Gly4225Ser)" "" "0001046146" "00016320" "50" "12754" "0" "12754" "0" "c.12754G>A" "r.(?)" "p.(Gly4252Ser)" "" "0001046147" "00025657" "50" "6971" "0" "6971" "0" "c.6971G>A" "r.(?)" "p.(Arg2324Gln)" "" "0001046147" "00016320" "50" "7052" "0" "7052" "0" "c.7052G>A" "r.(?)" "p.(Arg2351Gln)" "" "0001046148" "00025657" "50" "5965" "0" "5965" "0" "c.5965C>T" "r.(?)" "p.(Arg1989Cys)" "" "0001046148" "00016320" "50" "6046" "0" "6046" "0" "c.6046C>T" "r.(?)" "p.(Arg2016Cys)" "" "0001046149" "00025657" "30" "5096" "0" "5096" "0" "c.5096A>G" "r.(?)" "p.(Gln1699Arg)" "" "0001046149" "00016320" "30" "5177" "0" "5177" "0" "c.5177A>G" "r.(?)" "p.(Gln1726Arg)" "" "0001046150" "00025657" "10" "4524" "0" "4524" "0" "c.4524G>A" "r.(?)" "p.(Gln1508=)" "" "0001046150" "00016320" "10" "4605" "0" "4605" "0" "c.4605G>A" "r.(?)" "p.(Gln1535=)" "" "0001046151" "00025657" "30" "3885" "0" "3885" "0" "c.3885G>A" "r.(?)" "p.(Pro1295=)" "" "0001046151" "00016320" "30" "3966" "0" "3966" "0" "c.3966G>A" "r.(?)" "p.(Pro1322=)" "" "0001046152" "00025657" "50" "3286" "0" "3286" "0" "c.3286C>T" "r.(?)" "p.(Arg1096Cys)" "" "0001046152" "00016320" "50" "3367" "0" "3367" "0" "c.3367C>T" "r.(?)" "p.(Arg1123Cys)" "" "0001046153" "00025657" "30" "3171" "0" "3171" "0" "c.3171G>A" "r.(?)" "p.(Ser1057=)" "" "0001046153" "00016320" "30" "3252" "0" "3252" "0" "c.3252G>A" "r.(?)" "p.(Ser1084=)" "" "0001046154" "00025657" "50" "1324" "0" "1324" "0" "c.1324T>A" "r.(?)" "p.(Leu442Met)" "" "0001046154" "00016320" "50" "1405" "0" "1405" "0" "c.1405T>A" "r.(?)" "p.(Leu469Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 255 "{{screeningid}}" "{{variantid}}" "0000050385" "0000079365" "0000050385" "0000079655" "0000119590" "0000195714" "0000119590" "0000195715" "0000146964" "0000239641" "0000146964" "0000239642" "0000175676" "0000829145" "0000175691" "0000829201" "0000208997" "0000439067" "0000209857" "0000440085" "0000209967" "0000441100" "0000211254" "0000442722" "0000214228" "0000446173" "0000214229" "0000446174" "0000214230" "0000446175" "0000214231" "0000446176" "0000214232" "0000446177" "0000214233" "0000446178" "0000214234" "0000446179" "0000214235" "0000446180" "0000214236" "0000446181" "0000214237" "0000446182" "0000214238" "0000446183" "0000214239" "0000446184" "0000214240" "0000446185" "0000214241" "0000446186" "0000214242" "0000446187" "0000214243" "0000446188" "0000214244" "0000446189" "0000214245" "0000446190" "0000214246" "0000446191" "0000214247" "0000446192" "0000214248" "0000446193" "0000214249" "0000446194" "0000214250" "0000446195" "0000214251" "0000446196" "0000214252" "0000446197" "0000214253" "0000446198" "0000214254" "0000446199" "0000214255" "0000446200" "0000214256" "0000446201" "0000214257" "0000446202" "0000214258" "0000446203" "0000214259" "0000446204" "0000214260" "0000446205" "0000214261" "0000446206" "0000214262" "0000446207" "0000214263" "0000446208" "0000214264" "0000446209" "0000214265" "0000446210" "0000214266" "0000446211" "0000214267" "0000446212" "0000214268" "0000446213" "0000214269" "0000446214" "0000214270" "0000446215" "0000214271" "0000446216" "0000214272" "0000446217" "0000214273" "0000446218" "0000214274" "0000446219" "0000214275" "0000446220" "0000214276" "0000446221" "0000214277" "0000446222" "0000214277" "0000446223" "0000220518" "0000464695" "0000220538" "0000464696" "0000220585" "0000464697" "0000220585" "0000464698" "0000220593" "0000464699" "0000220610" "0000464700" "0000220613" "0000464701" "0000220617" "0000464702" "0000220618" 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"0000464777" "0000221370" "0000464778" "0000221377" "0000464779" "0000221382" "0000464780" "0000221384" "0000464781" "0000221396" "0000464782" "0000221400" "0000464783" "0000221403" "0000464784" "0000221405" "0000464785" "0000221410" "0000464786" "0000221414" "0000464787" "0000221418" "0000464788" "0000221420" "0000464789" "0000221423" "0000464790" "0000221427" "0000464791" "0000221429" "0000464792" "0000221430" "0000464793" "0000221441" "0000464794" "0000221442" "0000464795" "0000221446" "0000464796" "0000221465" "0000464797" "0000221467" "0000464798" "0000221469" "0000464799" "0000221469" "0000464800" "0000221476" "0000464801" "0000221480" "0000464802" "0000221518" "0000464803" "0000221556" "0000464804" "0000221566" "0000464805" "0000221652" "0000464806" "0000221898" "0000464807" "0000221899" "0000464808" "0000221912" "0000464809" "0000221912" "0000464810" "0000221916" "0000464811" "0000221916" "0000464812" "0000221920" "0000464813" "0000221920" "0000464814" "0000222160" "0000464815" "0000223271" "0000464816" "0000223516" "0000464817" "0000223516" "0000464818" "0000223539" "0000464819" "0000223539" "0000464820" "0000223539" "0000464821" "0000223590" "0000464822" "0000266596" "0000597301" "0000266596" "0000597302" "0000295753" "0000652442" "0000295754" "0000652443" "0000295755" "0000652444" "0000295756" "0000652445" "0000295757" "0000652446" "0000295758" "0000652447" "0000295759" "0000652448" "0000297509" "0000660111" "0000300811" "0000663710" "0000306310" "0000669998" "0000306311" "0000669999" "0000306312" "0000670000" "0000306654" "0000670366" "0000306654" "0000670367" "0000306922" "0000670739" "0000306922" "0000670848" "0000307001" "0000670818" "0000317207" "0000699705" "0000389881" "0000819281" "0000389912" "0000819282" "0000389933" "0000819275" "0000393175" "0000823838" "0000393177" "0000823942" "0000393177" "0000823989" "0000393180" "0000823991" "0000393180" "0000824005" "0000393213" "0000823957" "0000393222" "0000823962" "0000393239" "0000823902" "0000393240" 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