### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MAPT) # 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}}" "MAPT" "microtubule-associated protein tau" "17" "q21" "unknown" "NG_007398.1" "UD_132084549824" "" "https://www.LOVD.nl/MAPT" "Alzheimer Disease & Frontotemporal Dementia Mutation Database " "1" "6893" "4137" "157140" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/MAPT_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2017-11-08 21:41:48" "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}}" "00011803" "MAPT" "transcript variant 1" "002" "NM_016835.4" "" "NP_058519.3" "" "" "" "-322" "6440" "2277" "43971748" "44105700" "" "0000-00-00 00:00:00" "" "" "00025253" "MAPT" "transcript variant 6" "002" "NM_001123066.3" "" "NP_001116538.2" "" "" "" "-322" "6494" "2331" "43971748" "44105700" "00008" "2017-12-07 13:23:06" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00025" "FTDALS" "dementia, frontotemporal, and/or amyotrophic lateral sclerosis (FTDALS)" "AD" "105550" "" "" "" "00001" "2012-08-03 15:09:30" "00006" "2021-12-10 21:51:32" "00096" "FTD" "dementia, frontotemporal (FTD)" "AD" "600274" "" "" "" "00008" "2012-12-10 14:01:50" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00204" "AD" "Alzheimer disease (AD)" "AD" "104300" "" "" "" "00006" "2013-09-24 20:52:38" "00006" "2021-12-10 21:51:32" "00414" "PD" "Parkinson disease, susceptibility to" "AD;AR;Mu" "168600" "" "" "" "00006" "2014-06-15 21:26:13" "00006" "2023-10-27 16:16:06" "01505" "Picks" "Pick disease" "AD" "172700" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01749" "HDLS" "leukoencephalopathy, diffuse hereditary, with spheroid (HDLS)" "AD" "221820" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02002" "-" "Parkinson-dementia syndrome" "AR" "260540" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02340" "PSNP1" "ophthalmoplegia, supranuclear, progressive (PSNP-1)" "AD" "601104" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05613" "PARK" "Parkinson disease (PARK)" "" "" "" "" "" "00006" "2019-06-19 16:46:42" "00006" "2019-06-19 16:46:58" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{geneid}}" "{{diseaseid}}" "MAPT" "00096" "MAPT" "00414" "MAPT" "01505" "MAPT" "02002" "MAPT" "02340" ## Individuals ## Do not remove or alter this header ## ## Count = 159 "{{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}}" "00057199" "" "" "" "1" "" "01225" "" "" "" "" "Norway" "" "0" "" "" "" "" "00057200" "" "" "" "3" "" "01225" "" "" "" "" "Norway" "" "0" "" "" "" "" "00057202" "" "" "" "3" "" "01225" "" "" "" "" "Norway" "" "0" "" "" "" "" "00057203" "" "" "" "2" "" "01225" "" "" "" "" "Norway" "" "0" "" "" "" "" "00057204" "" "" "" "1" "" "01225" "" "" "" "" "Norway" "" "0" "" "" "" "" "00057205" "" "" "" "1" "" "01225" "" "" "" "" "Norway" "" "0" "" "" "" "" "00057206" "" "" "" "5" "" "01225" "" "" "" "" "Norway" "" "0" "" "" "" "" "00057207" "" "" "" "1" "" "01225" "" "" "" "" "Norway" "" "0" "" "" "" "" "00132795" "" "" "" "1" "" "00006" "{PMID:Iovino 2014:24292008}" "3-generation family, affected mother" "F" "" "United Kingdom (Great Britain)" "68y" "0" "" "" "" "24292008-Fam" "00148897" "" "" "" "1" "" "02360" "" "" "" "" "" "83y06m" "0" "" "" "" "" "00148898" "" "" "" "1" "" "02360" "" "" "" "" "" "67y" "0" "" "" "" "" "00148899" "" "" "" "1" "" "02360" "" "De novo mutation?" "" "" "United Kingdom (Great Britain)" "51y" "0" "" "" "white" "" "00148900" "" "" "" "1" "" "02360" "" "" "" "" "United Kingdom (Great Britain)" "51y" "0" "" "" "white" "" "00148901" "" "" "" "1" "" "02360" "" "" "" "" "" "77y" "0" "" "" "" "" "00148902" "" "" "" "3" "" "02360" "" "" "" "" "Japan" "38y" "0" "" "" "Asian" "" "00148903" "" "" "" "1" "" "02360" "" "" "" "" "" "" "0" "" "" "" "" "00148904" "" "" "" "34" "" "02360" "" "" "" "" "Netherlands" "54y09m" "0" "" "" "white" "" "00148905" "" "" "" "36" "" "02360" "" "" "" "" "United States" "" "0" "" "" "white" "" "00148906" "" "" "" "4" "" "02360" "" "" "" "" "Japan" "49y" "0" "" "" "Asian" "" "00148907" "" "" "" "3" "" "02360" "" "" "" "" "France" "48y" "0" "" "" "white" "" "00148908" "" "" "" "1" "" "02360" "" "" "" "" "Japan" "" "0" "" "" "Asian" "" "00148909" "" "" "" "2" "" "02360" "" "" "" "" "Japan" "53y06m" "0" "" "" "Asian" "" "00148910" "" "" "" "3" "" "02360" "" "" "" "" "" "45y06m" "0" "" "" "" "" "00148911" "" "" "" "6" "" "02360" "" "" "" "" "" "62y" "0" "" "" "" "" "00148912" "" "" "" "1" "" "02360" "" "No family history of dementia. Father diagnosed with Parkinson\'s disease" "" "" "Netherlands" "" "0" "" "" "white" "" "00148913" "" "" "" "4" "" "02360" "" "" "" "" "" "64y04m" "0" "" "" "" "" "00148914" "" "" "" "2" "" "02360" "" "One individual homozygous for the mutant allele" "" "" "Spain" "42y" "0" "" "" "white" "" "00148915" "" "" "" "1" "" "02360" "" "" "" "" "Japan" "" "0" "" "" "Asian" "" "00148916" "" "" "" "2" "" "02360" "" "" "" "" "Italy" "36y" "0" "" "" "white" "" "00148917" "" "" "" "3" "" "02360" "" "" "" "" "" "34y06m" "0" "" "" "white" "" "00148918" "" "" "" "2" "" "02360" "" "" "" "" "Japan" "40y" "0" "" "" "Asian" "" "00148919" "" "" "" "1" "" "02360" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00148920" "" "" "" "3" "" "02360" "" "" "" "" "" "41y" "0" "" "" "" "" "00148921" "" "" "" "2" "" "02360" "" "" "" "" "" "57y" "0" "" "" "" "" "00148922" "" "" "" "30" "" "02360" "" "" "" "" "" "" "0" "" "" "" "" "00148923" "" "" "" "3" "" "02360" "" "" "" "" "Japan" "38y" "0" "" "" "Asian" "" "00148924" "" "" "" "2" "" "02360" "" "" "" "" "Japan" "44y" "0" "" "" "Asian" "" "00148925" "" "" "" "4" "" "02360" "" "Proof of non-penetrance" "" "" "Netherlands" "62y" "0" "" "" "white" "" "00148926" "" "" "" "4" "" "02360" "" "Suggestive for non-penetrance" "" "" "Netherlands" "33y" "0" "" "" "white" "" "00148927" "" "" "" "1" "" "02360" "" "" "" "" "Netherlands" "53y" "0" "" "" "white" "" "00148928" "" "" "" "13" "" "02360" "" "" "" "" "United States" "66y11m" "0" "" "" "white" "" "00148929" "" "" "" "2" "" "02360" "" "" "" "" "" "50y" "0" "" "" "" "" "00148930" "" "" "" "2" "" "02360" "" "" "" "" "United Kingdom (Great Britain)" "31y06m" "0" "" "" "white" "" "00148931" "" "" "" "1" "" "02360" "" "" "" "" "Germany" "61y" "0" "" "" "white" "" "00148932" "" "" "" "2" "" "02360" "" "Family history of dementia, but both parents of proband died unaffected. Incomplete penetrance or non-paternity?" "" "" "Italy" "42y04m" "0" "" "" "white" "" "00148933" "" "" "" "1" "" "02360" "" "Possible de novo mutation" "" "" "United Kingdom (Great Britain)" "37y" "0" "" "" "white" "" "00148934" "" "" "" "6" "" "02360" "" "" "" "" "United States" "" "0" "" "" "" "" "00148935" "" "" "" "2" "" "02360" "" "" "" "" "Netherlands" "75y05m" "0" "" "" "white" "" "00148936" "" "" "" "1" "" "02360" "" "" "" "" "Netherlands" "" "0" "" "" "white" "" "00148937" "" "" "" "1" "" "02360" "" "Might be wrong mutation numbering (C to T base change was reported)" "" "" "Japan" "56y06m" "0" "" "" "Asian" "" "00148938" "" "" "" "15" "" "02360" "" "" "" "" "Belgium" "71y07m" "0" "" "" "white" "" "00148939" "" "" "" "18" "" "02360" "" "" "" "" "Netherlands" "58y07m" "0" "" "" "white" "" "00148940" "" "" "" "3" "" "02360" "" "" "" "" "United States" "" "0" "" "" "" "" "00148941" "" "" "" "6" "" "02360" "" "" "" "" "Canada" "65y04m" "0" "" "" "white (French Canada)" "" "00148942" "" "" "" "8" "" "02360" "" "" "" "" "France" "" "0" "" "" "white" "" "00148943" "" "" "" "6" "" "02360" "" "" "" "" "France" "" "0" "" "" "white" "" "00148944" "" "" "" "11" "" "02360" "" "" "" "" "France" "" "0" "" "" "white" "" "00148945" "" "" "" "5" "" "02360" "" "" "" "" "France" "" "0" "" "" "white" "" "00148946" "" "" "" "3" "" "02360" "" "" "" "" "France" "" "0" "" "" "white" "" "00148947" "" "" "" "4" "" "02360" "" "" "" "" "France" "" "0" "" "" "white" "" "00148948" "" "" "" "1" "" "02360" "" "" "" "" "Netherlands" "61y" "0" "" "" "white" "" "00148949" "" "" "" "1" "" "02360" "" "" "" "" "Netherlands" "55y09m" "0" "" "" "white" "" "00148950" "" "" "" "1" "" "02360" "" "" "" "" "United States" "" "0" "" "" "" "" "00148951" "" "" "" "1" "" "02360" "" "" "" "" "United States" "" "0" "" "" "" "" "00148952" "" "" "" "1" "" "02360" "" "" "" "" "United States" "" "0" "" "" "" "" "00148953" "" "" "" "4" "" "02360" "" "" "" "" "Japan" "62y" "0" "" "" "Asian" "" "00148954" "" "" "" "7" "" "02360" "" "" "" "" "Italy" "" "0" "" "" "white" "" "00148955" "" "" "" "1" "" "02360" "" "" "" "" "Canada" "" "0" "" "" "white (French Canada)" "" "00148956" "" "" "" "2" "" "02360" "" "" "" "" "" "" "0" "" "" "white" "" "00148957" "" "" "" "6" "" "02360" "" "" "" "" "United Kingdom (Great Britain); Canada" "56y04m" "0" "" "" "white (French Canada)" "" "00148958" "" "" "" "15" "" "02360" "" "" "" "" "United Kingdom (Great Britain); Canada" "68y04m" "0" "" "" "white (French Canada)" "" "00148959" "" "" "" "5" "" "02360" "" "" "" "" "United Kingdom (Great Britain); Canada" "72y04m" "0" "" "" "white (French Canada)" "" "00148960" "" "" "" "3" "" "02360" "" "" "" "" "United States" "55y06m" "0" "" "" "" "" "00148961" "" "" "" "1" "" "02360" "" "" "" "" "" "" "0" "" "" "Far East" "" "00148962" "" "" "" "1" "" "02360" "" "" "" "" "" "" "0" "" "" "" "" "00148963" "" "" "" "24" "" "02360" "" "" "" "" "" "59y04m" "0" "" "" "" "" "00148964" "" "" "" "1" "" "02360" "" "" "" "" "United Kingdom (Great Britain)" "42y" "0" "" "" "white" "" "00148965" "" "" "" "1" "" "02360" "" "" "" "" "Japan" "54y" "0" "" "" "Asian" "" "00148966" "" "" "" "7" "" "02360" "" "" "" "" "Japan" "65y" "0" "" "" "Asian" "" "00148967" "" "" "" "3" "" "02360" "" "" "" "" "United Kingdom (Great Britain)" "69y04m" "0" "" "" "white" "" "00148968" "" "" "" "13" "" "02360" "" "" "" "" "Ireland" "" "0" "" "" "white" "" "00148969" "" "" "" "1" "" "02360" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00148970" "" "" "" "28" "" "02360" "" "" "" "" "Australia" "62y" "0" "" "" "white" "" "00148971" "" "" "" "2" "" "02360" "" "" "" "" "United Kingdom (Great Britain)" "61y06m" "0" "" "" "white" "" "00148972" "" "" "" "4" "" "02360" "" "" "" "" "United Kingdom (Great Britain)" "60y02m" "0" "" "" "white" "" "00148973" "" "" "" "3" "" "02360" "" "" "" "" "United Kingdom (Great Britain)" "57y" "0" "" "" "white" "" "00148974" "" "" "" "1" "" "02360" "" "" "" "" "United Kingdom (Great Britain)" "63y" "0" "" "" "white" "" "00148975" "" "" "" "1" "" "02360" "" "" "" "" "United Kingdom (Great Britain)" "58y" "0" "" "" "white" "" "00148976" "" "" "" "1" "" "02360" "" "" "" "" "United Kingdom (Great Britain)" "62y" "0" "" "" "white" "" "00148977" "" "" "" "1" "" "02360" "" "" "" "" "United Kingdom (Great Britain)" "59y02m" "0" "" "" "white" "" "00148978" "" "" "" "1" "" "02360" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00148979" "" "" "" "3" "" "02360" "" "" "" "" "United States" "" "0" "" "" "" "" "00148980" "" "" "" "9" "" "02360" "" "" "" "" "United Kingdom (Great Britain)" "57y01m" "0" "" "" "white" "" "00148981" "" "" "" "3" "" "02360" "" "" "" "" "United Kingdom (Great Britain)" "58y04m" "0" "" "" "white" "" "00148982" "" "" "" "3" "" "02360" "" "" "" "" "United Kingdom (Great Britain)" "60y04m" "0" "" "" "white" "" "00148983" "" "" "" "5" "" "02360" "" "" "" "" "United Kingdom (Great Britain)" "59y" "0" "" "" "white" "" "00148984" "" "" "" "3" "" "02360" "" "" "" "" "United Kingdom (Great Britain)" "67y" "0" "" "" "white" "" "00148985" "" "" "" "1" "" "02360" "" "" "" "" "United Kingdom (Great Britain)" "62y" "0" "" "" "white" "" "00148986" "" "" "" "1" "" "02360" "" "" "" "" "United Kingdom (Great Britain)" "68y" "0" "" "" "white" "" "00148987" "" "" "" "3" "" "02360" "" "" "" "" "United Kingdom (Great Britain)" "65y06m" "0" "" "" "white" "" "00148988" "" "" "" "2" "" "02360" "" "" "" "" "United Kingdom (Great Britain)" "51y04m" "0" "" "" "white" "" "00148989" "" "" "" "4" "" "02360" "" "" "" "" "United States" "" "0" "" "" "" "" "00148990" "" "" "" "1" "" "02360" "" "" "" "" "" "45y" "0" "" "" "" "" "00148991" "" "" "" "1" "" "02360" "" "" "" "" "" "" "0" "" "" "" "" "00148993" "" "" "" "1" "" "02360" "" "" "" "" "United States" "" "0" "" "" "" "" "00148994" "" "" "" "5" "" "02360" "" "" "" "" "Sweden" "" "0" "" "" "white" "" "00148995" "" "" "" "5" "" "02360" "" "" "" "" "" "68y" "0" "" "" "" "" "00149008" "" "" "" "13" "" "02360" "" "Two families with common ancestor born in 1782" "" "" "Spain" "" "0" "" "" "Basque" "" "00149009" "" "" "" "2" "" "02360" "" "" "" "" "Italy" "" "0" "" "" "white" "" "00149010" "" "" "" "1" "" "02360" "" "" "" "" "Japan" "" "0" "" "" "Asian" "" "00149011" "" "" "" "1" "" "02360" "" "" "" "" "Japan" "" "0" "" "" "Asian" "" "00149012" "" "" "" "3" "" "02360" "" "" "" "" "Australia" "57y" "0" "" "" "white" "" "00149013" "" "" "" "1" "" "02360" "" "" "" "" "Australia" "60y04m" "0" "" "" "white" "" "00149014" "" "" "" "1" "" "02360" "" "" "" "" "Australia" "" "0" "" "" "white" "" "00149016" "" "" "" "2" "" "02360" "" "De novo mutation most likely in germline of mother" "" "" "" "" "0" "" "" "white" "" "00149027" "" "" "" "3" "" "02360" "" "Reduced penetrance possible" "" "" "" "60y" "0" "" "" "" "" "00149028" "" "" "" "1" "" "02360" "" "" "" "" "" "55y" "0" "" "" "" "" "00149044" "" "" "" "1" "" "02360" "" "" "" "" "Italy" "56y" "0" "" "" "white" "" "00149045" "" "" "" "7" "" "02360" "" "" "" "" "Germany" "36y06m" "0" "" "" "Germany" "" "00149046" "" "" "" "3" "" "02360" "" "" "" "" "" "43y09m" "0" "" "" "" "" "00149047" "" "" "" "1" "" "02360" "" "" "" "" "France" "" "0" "" "" "white" "" "00149175" "" "" "" "1" "" "02360" "" "" "" "" "Spain" "58y" "0" "" "" "white" "" "00149176" "" "" "" "1" "" "02360" "" "" "" "" "Spain" "58y" "0" "" "" "white" "" "00149184" "" "" "" "1" "" "02360" "" "" "" "" "United States" "" "0" "" "" "" "" "00149196" "" "" "" "1" "" "02360" "" "De novo mutation: both parents were free of symptoms and mutation. Paternity was confirmed by polymorphism genotyping" "" "" "" "36y" "0" "" "" "" "" "00149207" "" "" "" "3" "" "02360" "" "" "" "" "" "50y" "0" "" "" "" "" "00149239" "" "" "" "1" "" "02360" "" "" "" "" "" "81y" "0" "" "" "" "" "00149240" "" "" "" "2" "" "02360" "" "" "" "" "Spain" "80y" "0" "" "" "white" "" "00149249" "" "" "" "5" "" "02360" "" "" "" "" "" "52y04m" "0" "" "" "" "" "00149280" "" "" "" "6" "" "02360" "" "" "" "" "United Kingdom (Great Britain)" "51y06m" "0" "" "" "white" "" "00149309" "" "" "" "3" "" "02360" "" "" "" "" "" "56y" "0" "" "" "white (Finnish)" "" "00149318" "" "" "" "1" "" "02360" "" "" "" "" "" "52y" "0" "" "" "white" "" "00149319" "" "" "" "1" "" "02360" "" "" "" "" "" "58y" "0" "" "" "white" "" "00149320" "" "" "" "1" "" "02360" "" "" "" "" "" "58y" "0" "" "" "white" "" "00149356" "" "" "" "1" "" "02360" "" "Proband\'s 87 year-old unaffected father carries the mutation. Incomplete penetrance." "" "" "Italy" "" "0" "" "" "white" "" "00149357" "" "" "" "3" "" "02360" "" "" "" "" "Denmark" "" "0" "" "" "white" "" "00149358" "" "" "" "1" "" "02360" "" "" "" "" "Australia" "24y" "0" "" "" "white" "" "00149378" "" "" "" "1" "" "02360" "" "" "" "" "Spain" "52y" "0" "" "" "white" "" "00149379" "" "" "" "1" "" "02360" "" "" "" "" "Hungary" "41y" "0" "" "" "white" "" "00149397" "" "" "" "1" "" "02360" "" "" "" "" "Belgium" "" "0" "" "" "white" "" "00149412" "" "" "" "2" "" "02360" "" "" "" "" "Japan" "" "0" "" "" "Asian" "" "00149413" "" "" "" "1" "" "02360" "" "" "" "" "Japan" "" "0" "" "" "Asian" "" "00149442" "" "" "" "1" "" "02360" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00149481" "" "" "" "1" "" "02360" "" "" "" "" "" "61y" "0" "" "" "" "" "00149640" "" "" "" "2" "" "02360" "" "" "" "" "" "" "0" "" "" "" "" "00149682" "" "" "" "1" "" "02360" "" "" "" "" "" "" "0" "" "" "" "" "00213628" "" "" "" "1" "" "01741" "" "" "" "" "" "" "0" "" "" "" "" "00231261" "" "" "" "1" "" "01805" "" "" "F" "" "India" "" "0" "" "" "indian" "" "00291763" "" "" "" "164" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291764" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291765" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304586" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00374438" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-1781" "00444072" "" "" "" "1" "" "04610" "{PMID:Iyer 2013:24086739}, {DOI:Iyer 2013:10.1371/journal.pone.0076409}" "3-generation family, affected mother and two carrier sons" "F" "?" "United States" "" "0" "" "" "" "FamPatII1" "00444109" "" "" "" "1" "" "04610" "{PMID:Iovino 2014:24292008}, {DOI:Iovino 2014:10.1007/s00401-013-1219-1}" "" "F" "?" "United Kingdom (Great Britain)" "68y" "0" "" "" "" "patient" "00444110" "" "" "" "1" "" "04610" "{PMID:Ogaki 2012:22818528}, {DOI:Ogaki 2012:10.1016/j.parkreldis.2012.06.019}" "46-year-old man with no family history of dementia or movement disorders." "M" "?" "Japan" "49y" "0" "" "L-dopa/benserazide (up to 900 mg/day) was ineffective" "Asian" "1" "00445373" "" "" "" "2" "" "04610" "{PMID:Ogaki 2012:22818528}, {DOI:Ogaki 2012:10.1016/j.parkreldis.2012.06.019}" "family, 2 affected brothers" "M" "?" "Japan" "54y" "0" "" "L-dopa/benserazide at 200 mg/day mildly alleviated parkinsonism" "Asian" "FamBPat2" "00445392" "" "" "00445373" "1" "" "04610" "{PMID:Ogaki 2012:22818528}, {DOI:Ogaki 2012:10.1016/j.parkreldis.2012.06.019}" "brother" "M" "?" "Japan" "56y" "0" "" "L-dopa/carbidopa at 600 mg/day was not effective" "Asian" "FamBPat3" "00445393" "" "" "" "1" "" "04610" "{PMID:Tacik 2015:25900293}\r\n{DOI:Tacik 2015:10.1007/s00401-015-1425-0}" "" "F" "?" "United States" "69y" "" "?" "carbidopa/levodopa" "?" "1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 178 "{{individualid}}" "{{diseaseid}}" "00057199" "00414" "00057200" "00414" "00057202" "00414" "00057203" "00414" "00057204" "00414" "00057205" "00414" "00057206" "00414" "00057207" "00414" "00132795" "00096" "00148897" "00096" "00148898" "00198" "00148899" "00096" "00148900" "00096" "00148901" "00096" "00148902" "00096" "00148903" "00096" "00148904" "00096" "00148905" "00096" "00148906" "00198" "00148907" "00198" "00148908" "00096" "00148909" "00096" "00148909" "00414" "00148910" "00198" "00148911" "00096" "00148912" "00096" "00148913" "00096" "00148914" "00198" "00148915" "00096" "00148915" "00414" "00148916" "00096" "00148916" "00198" "00148917" "00096" "00148917" "00414" "00148918" "00096" "00148919" "00096" "00148920" "00096" "00148921" "00198" "00148922" "00096" "00148923" "00096" "00148924" "01505" "00148925" "00096" "00148926" "00096" "00148927" "00096" "00148928" "00096" "00148929" "00096" "00148930" "00198" "00148931" "00096" "00148932" "00096" "00148933" "00096" "00148934" "00096" "00148934" "00204" "00148935" "00096" "00148935" "00204" "00148936" "00096" "00148936" "00204" "00148937" "00096" "00148938" "00204" "00148939" "00096" "00148940" "00096" "00148941" "00096" "00148942" "00096" "00148943" "00096" "00148944" "00096" "00148945" "00096" "00148946" "00096" "00148947" "00096" "00148948" "00096" "00148949" "00096" "00148950" "00096" "00148951" "00096" "00148952" "00096" "00148953" "00096" "00148954" "00096" "00148955" "00096" "00148956" "00096" "00148956" "00414" "00148957" "00096" "00148958" "00096" "00148959" "00096" "00148960" "00096" "00148961" "00096" "00148962" "00096" "00148962" "00414" "00148963" "00096" "00148963" "00198" "00148964" "00096" "00148964" "00414" "00148965" "00096" "00148965" "00414" "00148966" "00096" "00148967" "00096" "00148968" "00096" "00148969" "00096" "00148970" "00096" "00148971" "00096" "00148972" "00096" "00148973" "00096" "00148974" "00096" "00148975" "00096" "00148976" "00096" "00148977" "00096" "00148978" "00096" "00148979" "00096" "00148980" "00096" "00148981" "00096" "00148982" "00096" "00148983" "00096" "00148984" "00096" "00148985" "00096" "00148986" "00096" "00148987" "00096" "00148988" "00096" "00148989" "01749" "00148990" "00198" "00148991" "00096" "00148993" "00096" "00148993" "00414" "00148994" "00096" "00148994" "00204" "00148995" "00096" "00149008" "00025" "00149009" "00096" "00149010" "00096" "00149011" "00096" "00149012" "00096" "00149013" "00096" "00149013" "00414" "00149014" "00096" "00149016" "01505" "00149027" "00198" "00149027" "00414" "00149028" "00096" "00149044" "00096" "00149045" "00096" "00149046" "00198" "00149047" "00414" "00149175" "00096" "00149176" "00096" "00149184" "00096" "00149196" "00096" "00149207" "00096" "00149239" "00204" "00149240" "00198" "00149249" "00096" "00149280" "00096" "00149280" "00204" "00149309" "00096" "00149318" "00096" "00149319" "00096" "00149320" "00096" "00149356" "00198" "00149357" "00096" "00149357" "00204" "00149358" "00096" "00149378" "00096" "00149379" "00198" "00149397" "00096" "00149412" "00204" "00149413" "00204" "00149442" "00096" "00149442" "00204" "00149481" "00096" "00149640" "00096" "00149682" "00096" "00213628" "00096" "00231261" "00096" "00291763" "00198" "00291764" "00198" "00291765" "00198" "00304586" "00198" "00374438" "00198" "00444072" "00096" "00444109" "00096" "00444110" "02340" "00445373" "02340" "00445392" "02340" "00445393" "05613" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00025, 00096, 00198, 00204, 00414, 01505, 01749, 02002, 02340, 05613 ## Count = 154 "{{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}}" "0000043879" "00414" "00057199" "01225" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043880" "00414" "00057200" "01225" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043882" "00414" "00057202" "01225" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043883" "00414" "00057203" "01225" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043884" "00414" "00057204" "01225" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043885" "00414" "00057205" "01225" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043886" "00414" "00057206" "01225" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043887" "00414" "00057207" "01225" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105560" "00096" "00132795" "00006" "Unknown" "" "see paper; ..., FTDP-17T, rapidly progressive" "67y" "" "progressive gait difficulties, non-fluent aphasia" "" "" "" "" "" "" "" "" "0000121315" "00104" "00148897" "02360" "Familial" "75y" "Late Onset" "" "" "" "" "" "" "" "" "" "" "" "0000121316" "00116" "00148898" "02360" "Unknown" "62y" "" "" "" "" "" "" "" "" "" "" "Supranuclear palsy" "" "0000121317" "00104" "00148899" "02360" "Isolated (sporadic)" "47y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121318" "00104" "00148900" "02360" "Unknown" "47y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121319" "00104" "00148901" "02360" "Unknown" "68y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121320" "00104" "00148902" "02360" "Familial" "34y04m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121321" "00104" "00148903" "02360" "Unknown" "33y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121322" "00104" "00148904" "02360" "Familial, autosomal dominant" "47y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121323" "00104" "00148905" "02360" "Familial, autosomal dominant" "43y08m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121324" "00131" "00148906" "02360" "Familial" "41y" "" "" "" "" "" "" "" "" "" "" "Pallido-nigro-luysian degeneration" "" "0000121325" "00116" "00148907" "02360" "Familial" "42y" "Dementia" "" "" "" "" "" "" "" "" "" "Supranuclear palsy" "" "0000121326" "00104" "00148908" "02360" "Unknown" "41y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121327" "00104" "00148909" "02360" "Familial" "45y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121328" "00116" "00148910" "02360" "Familial" "42y07m" "" "" "" "" "" "" "" "" "" "" "Supranuclear palsy" "" "0000121329" "00104" "00148911" "02360" "Familial, autosomal dominant" "51y10m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121330" "00104" "00148912" "02360" "Unknown" "53y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121331" "00104" "00148913" "02360" "Familial, autosomal dominant" "55y04m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121332" "00198" "00148914" "02360" "Familial, autosomal recessive" "38y06m" "" "" "" "" "" "" "" "" "" "" "Supranuclear palsy, progressive atypical" "" "0000121333" "00104" "00148915" "02360" "Familial" "62y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121334" "00104" "00148916" "02360" "Familial" "28y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121335" "00104" "00148917" "02360" "Familial, autosomal dominant" "31y08m" "Epileptic Seizures" "" "" "" "" "" "" "" "" "" "" "" "0000121336" "00104" "00148918" "02360" "Familial" "36y06m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121337" "00104" "00148919" "02360" "Familial" "34y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121338" "00104" "00148920" "02360" "Familial" "38y04m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121339" "00116" "00148921" "02360" "Familial, autosomal dominant" "51y06m" "" "" "" "" "" "" "" "" "" "" "Supranuclear palsy" "" "0000121340" "00104" "00148922" "02360" "Unknown" "43y05m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121341" "00104" "00148923" "02360" "Familial" "34y08m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121342" "00114" "00148924" "02360" "Familial" "42y06m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121343" "00104" "00148925" "02360" "Familial" "55y10m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121344" "00104" "00148926" "02360" "Familial" "46y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121345" "00104" "00148927" "02360" "Familial" "38y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121346" "00104" "00148928" "02360" "Familial, autosomal dominant" "51y06m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121347" "00104" "00148929" "02360" "Familial" "43y06m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121348" "00094" "00148930" "02360" "Familial, autosomal recessive" "29y06m" "" "" "" "" "" "" "" "" "" "" "Respiratory Failure" "" "0000121349" "00104" "00148931" "02360" "Unknown" "52y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121350" "00104" "00148932" "02360" "Familial" "39y06m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121351" "00104" "00148933" "02360" "Isolated (sporadic)" "32y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121352" "00095" "00148934" "02360" "Familial, autosomal dominant" "55y07m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121353" "00095" "00148935" "02360" "Familial, autosomal dominant" "65y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121354" "00095" "00148936" "02360" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000121355" "00104" "00148937" "02360" "Familial" "47y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121356" "00095" "00148938" "02360" "Familial, autosomal dominant" "58y08m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121357" "00104" "00148939" "02360" "Familial, autosomal dominant" "50y05m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121358" "00104" "00148940" "02360" "Familial" "47y06m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121359" "00104" "00148941" "02360" "Familial, autosomal dominant" "57y07m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121360" "00104" "00148942" "02360" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000121361" "00104" "00148943" "02360" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000121362" "00104" "00148944" "02360" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000121363" "00104" "00148945" "02360" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000121364" "00104" "00148946" "02360" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000121365" "00104" "00148947" "02360" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000121366" "00104" "00148948" "02360" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000121367" "00104" "00148949" "02360" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000121368" "00104" "00148950" "02360" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000121369" "00104" "00148951" "02360" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000121370" "00104" "00148952" "02360" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000121371" "00104" "00148953" "02360" "Familial" "53y06m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121372" "00104" "00148954" "02360" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000121373" "00104" "00148955" "02360" "Familial" "45y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121374" "00104" "00148956" "02360" "Familial" "57y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121375" "00104" "00148957" "02360" "Familial, autosomal dominant" "49y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121376" "00104" "00148958" "02360" "Familial, autosomal dominant" "61y02m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121377" "00104" "00148959" "02360" "Familial" "64y04m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121378" "00104" "00148960" "02360" "Familial, autosomal dominant" "51y06m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121379" "00104" "00148961" "02360" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000121380" "00104" "00148962" "02360" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000121381" "00104" "00148963" "02360" "Familial, autosomal dominant" "48y01m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121382" "00104" "00148964" "02360" "Familial" "38y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121383" "00104" "00148965" "02360" "Familial, autosomal dominant" "48y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121384" "00104" "00148966" "02360" "Familial, autosomal dominant" "53y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121385" "00104" "00148967" "02360" "Familial" "65y08m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121386" "00104" "00148968" "02360" "Familial, autosomal dominant" "44y10m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121387" "00104" "00148969" "02360" "Unknown" "45y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121388" "00104" "00148970" "02360" "Familial, autosomal dominant" "53y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121389" "00104" "00148971" "02360" "Familial" "50y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121390" "00104" "00148972" "02360" "Familial, autosomal dominant" "50y06m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121391" "00104" "00148973" "02360" "Familial" "53y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121392" "00104" "00148974" "02360" "Familial" "47y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121393" "00104" "00148975" "02360" "Familial" "48y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121394" "00104" "00148976" "02360" "Familial" "54y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121395" "00104" "00148977" "02360" "Familial, autosomal dominant" "48y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121396" "00104" "00148978" "02360" "Unknown" "51y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121397" "00104" "00148979" "02360" "Familial" "40y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121398" "00104" "00148980" "02360" "Familial, autosomal dominant" "50y02m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121399" "00104" "00148981" "02360" "Familial" "47y04m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121400" "00104" "00148982" "02360" "Familial, autosomal dominant" "42y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121401" "00104" "00148983" "02360" "Familial, autosomal dominant" "57y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121402" "00104" "00148984" "02360" "Familial" "51y08m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121403" "00104" "00148985" "02360" "Familial" "47y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121404" "00104" "00148986" "02360" "Unknown" "52y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121405" "00104" "00148987" "02360" "Familial" "46y08m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121406" "00104" "00148988" "02360" "Familial" "40y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121407" "00109" "00148989" "02360" "Familial, autosomal dominant" "49y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121408" "00116" "00148990" "02360" "Isolated (sporadic)" "40y" "" "" "" "" "" "" "" "" "" "" "Supranuclear palsy" "" "0000121409" "00104" "00148991" "02360" "Unknown" "52y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121411" "00104" "00148993" "02360" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000121412" "00104" "00148994" "02360" "Familial" "58y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121413" "00104" "00148995" "02360" "Familial, autosomal dominant" "58y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121426" "00098" "00149008" "02360" "Familial, autosomal dominant" "48y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121427" "00104" "00149009" "02360" "Familial" "66y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121428" "00104" "00149010" "02360" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000121429" "00104" "00149011" "02360" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000121430" "00104" "00149012" "02360" "Familial, autosomal dominant" "48y06m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121431" "00104" "00149013" "02360" "Familial, autosomal dominant" "55y06m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121432" "00104" "00149014" "02360" "Familial" "71y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121434" "00114" "00149016" "02360" "Unknown" "33y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121445" "00116" "00149027" "02360" "Familial" "50y" "" "" "" "" "" "" "" "" "" "" "Supranuclear palsy" "" "0000121446" "00104" "00149028" "02360" "Unknown" "50y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121462" "00104" "00149044" "02360" "Familial" "50y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121463" "00104" "00149045" "02360" "Familial, autosomal dominant" "25y05m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121464" "00116" "00149046" "02360" "Familial" "39y" "" "" "" "" "" "" "" "" "" "" "Supranuclear palsy" "" "0000121465" "00113" "00149047" "02360" "Isolated (sporadic)" "45y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121593" "00104" "00149175" "02360" "Familial, autosomal dominant" "53y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121594" "00104" "00149176" "02360" "Familial, autosomal dominant" "52y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121602" "00104" "00149184" "02360" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000121614" "00104" "00149196" "02360" "Isolated (sporadic)" "22y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121625" "00104" "00149207" "02360" "Familial, autosomal dominant" "42y08m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121657" "00095" "00149239" "02360" "Unknown" "71y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121658" "00132" "00149240" "02360" "Familial" "72y" "" "" "" "" "" "" "" "" "" "" "Progressive Nonfluent Aphasia" "" "0000121667" "00104" "00149249" "02360" "Familial, autosomal dominant" "49y05m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121696" "00095" "00149280" "02360" "Familial, autosomal dominant" "43y06m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121725" "00104" "00149309" "02360" "Familial, autosomal dominant" "42y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121734" "00104" "00149318" "02360" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000121735" "00104" "00149319" "02360" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000121736" "00104" "00149320" "02360" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000121772" "00125" "00149356" "02360" "Isolated (sporadic)" "40y" "" "" "" "" "" "" "" "" "" "" "Corticobasal Syndrome" "" "0000121773" "00095" "00149357" "02360" "Familial, autosomal dominant" "60y08m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121774" "00104" "00149358" "02360" "Isolated (sporadic)" "20y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121794" "00104" "00149378" "02360" "Familial, autosomal dominant" "46y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121795" "00101" "00149379" "02360" "Unknown" "39y" "" "" "" "" "" "" "" "" "" "" "Argyrophilic Grain Disease" "" "0000121812" "00104" "00149397" "02360" "Familial" "63y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121827" "00095" "00149412" "02360" "Familial" "49y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121828" "00095" "00149413" "02360" "Familial" "56y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121857" "00095" "00149442" "02360" "Familial, autosomal dominant" "56y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121896" "00104" "00149481" "02360" "Unknown" "52y" "" "" "" "" "" "" "" "" "" "" "" "" "0000122054" "00104" "00149640" "02360" "Familial" "54y06m" "" "" "" "" "" "" "" "" "" "" "" "" "0000122096" "00104" "00149682" "02360" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173703" "00096" "00231261" "01805" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000269648" "00198" "00374438" "00006" "Familial, autosomal dominant" "" "Reduced social interaction, delayed milestones, aphasia, stuttering and febrile seizures since age of three years. MRI indicative of diffuse neuroparenchymal atrophy, caudate atrophy and mineralization. Abdominal ultrasound suggestive of multiple cysts in both the kidneys and simple cyst in right lobe of liver" "" "" "" "" "" "" "" "" "" "dementia" "" "0000333329" "00096" "00444072" "04610" "Unknown" "55y" "see paper; ..." "" "" "" "" "" "" "" "" "" "frontotemporal dementia" "" "0000333384" "00198" "00444110" "04610" "-" "47y" "Poor speech, dyspnea, gait disturbance, limb\r\nbradykinesia, palilalia, vertical supranuclear gaze palsy, slow saccadic eye movements" "46y" "" "" "" "" "" "" "" "" "progressive supranuclear palsy" "" "0000334608" "02340" "00445373" "04610" "-" "47y" "Oscillopsia, micrographia, shuffling gait, horizontal pendular nystagmus, bradykinesia, upper limb postural tremor, postural instability, eyelid apraxia." "42y" "" "" "" "" "" "" "" "" "progressive supranuclear palsy" "" "0000334626" "02340" "00445392" "04610" "-" "45y" "Oscillopsia, horizontal pendular nystagmus, mild bradykinesia, postural tremor in both hands and tongue, postural instability, slow saccades, eyelid apraxia." "44y" "" "" "" "" "" "" "" "" "progressive supranuclear palsy" "" "0000334627" "00204" "00444109" "04610" "Familial" "67y" "Gait disturbance, Progressive non-fluent aphasia, Hand tremor" "48y" "68y" "Hand tremor" "" "" "" "" "" "FTD" "Frontotemporal dementia & non-fluent aphasia" "" "0000334628" "01975" "00445393" "04610" "Familial" "?" "fasciculations, spastic dysarthria, mild cognitive impairment, limb apraxia, apraxia of eyelid opening, frontal release signs" "64y" "?" "speech apraxia" "MAPT" "" "" "" "" "?" "?" "" ## Screenings ## Do not remove or alter this header ## ## Count = 160 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000057160" "00057199" "1" "01225" "01225" "2016-01-14 14:07:27" "" "" "SEQ-NG" "DNA" "" "" "0000057161" "00057200" "1" "01225" "01225" "2016-01-14 14:07:27" "" "" "SEQ-NG" "DNA" "" "" "0000057163" "00057202" "1" "01225" "01225" "2016-01-14 14:07:27" "" "" "SEQ-NG" "DNA" "" "" "0000057164" "00057203" "1" "01225" "01225" "2016-01-14 14:07:27" "" "" "SEQ-NG" "DNA" "" "" "0000057165" "00057204" "1" "01225" "01225" "2016-01-14 14:07:27" "" "" "SEQ-NG" "DNA" "" "" "0000057166" "00057205" "1" "01225" "01225" "2016-01-14 14:07:27" "" "" "SEQ-NG" "DNA" "" "" "0000057167" "00057206" "1" "01225" "01225" "2016-01-14 14:07:27" "" "" "SEQ-NG" "DNA" "" "" "0000057168" "00057207" "1" "01225" "01225" "2016-01-14 14:07:27" "" "" "SEQ-NG" "DNA" "" "" "0000133630" "00132795" "1" "00006" "00006" "2017-11-08 21:55:19" "" "" "SEQ" "DNA" "blood" "" "0000149753" "00148897" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149754" "00148898" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149755" "00148899" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149756" "00148900" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149757" "00148901" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149758" "00148902" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149759" "00148903" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149760" "00148904" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149761" "00148905" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149762" "00148906" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149763" "00148907" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149764" "00148908" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149765" "00148909" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149766" "00148910" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149767" "00148911" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149768" "00148912" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149769" "00148913" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149770" "00148914" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149771" "00148915" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149772" "00148916" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149773" "00148917" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149774" "00148918" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149775" "00148919" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149776" "00148920" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149777" "00148921" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149778" "00148922" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149779" "00148923" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149780" "00148924" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149781" "00148925" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149782" "00148926" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149783" "00148927" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149784" "00148928" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149785" "00148929" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149786" "00148930" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149787" "00148931" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149788" "00148932" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149789" "00148933" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149790" "00148934" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149791" "00148935" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149792" "00148936" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149793" "00148937" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149794" "00148938" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149795" "00148939" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149796" "00148940" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149797" "00148941" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149798" "00148942" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149799" "00148943" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149800" "00148944" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149801" "00148945" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149802" "00148946" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149803" "00148947" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149804" "00148948" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149805" "00148949" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149806" "00148950" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149807" "00148951" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149808" "00148952" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149809" "00148953" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149810" "00148954" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149811" "00148955" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149812" "00148956" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149813" "00148957" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149814" "00148958" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149815" "00148959" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149816" "00148960" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149817" "00148961" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149818" "00148962" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149819" "00148963" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149820" "00148964" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149821" "00148965" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149822" "00148966" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149823" "00148967" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149824" "00148968" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149825" "00148969" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149826" "00148970" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149827" "00148971" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149828" "00148972" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149829" "00148973" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149830" "00148974" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149831" "00148975" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149832" "00148976" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149833" "00148977" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149834" "00148978" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149835" "00148979" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149836" "00148980" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149837" "00148981" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149838" "00148982" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149839" "00148983" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149840" "00148984" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149841" "00148985" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149842" "00148986" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149843" "00148987" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149844" "00148988" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149845" "00148989" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149846" "00148990" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149847" "00148991" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149849" "00148993" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149850" "00148994" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149851" "00148995" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149864" "00149008" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149865" "00149009" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149866" "00149010" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149867" "00149011" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149868" "00149012" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149869" "00149013" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149870" "00149014" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149872" "00149016" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149883" "00149027" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149884" "00149028" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149900" "00149044" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149901" "00149045" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149902" "00149046" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000149903" "00149047" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150031" "00149175" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150032" "00149176" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150040" "00149184" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150052" "00149196" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150063" "00149207" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150095" "00149239" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150096" "00149240" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150105" "00149249" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150136" "00149280" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150165" "00149309" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150174" "00149318" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150175" "00149319" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150176" "00149320" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150212" "00149356" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150213" "00149357" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150214" "00149358" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150234" "00149378" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150235" "00149379" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150253" "00149397" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150268" "00149412" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150269" "00149413" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150298" "00149442" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150337" "00149481" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150496" "00149640" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150538" "00149682" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000214697" "00213628" "1" "01741" "01741" "2019-01-15 14:53:42" "" "" "SEQ-NG" "DNA" "" "" "0000232359" "00231261" "1" "01805" "01805" "2012-11-23 09:52:24" "" "" "SEQ" "DNA" "" "" "0000292931" "00291763" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292932" "00291764" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292933" "00291765" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305715" "00304586" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000375632" "00374438" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000445569" "00444072" "1" "04610" "04610" "2023-12-12 10:19:03" "" "" "SEQ" "DNA" "Peripheral blood" "" "0000445607" "00444109" "1" "04610" "04610" "2023-12-18 15:16:13" "" "" "PCRq" "RNA" "Brain" "" "0000445629" "00444110" "1" "04610" "04610" "2023-12-18 17:15:45" "" "" "microsat;MLPA;PCR" "DNA" "" "Dideoxy cycle sequencing was also carried out" "0000446944" "00445373" "1" "04610" "04610" "2024-01-10 19:24:51" "" "" "MLPA;PCR" "DNA" "" "Dideoxy cycle sequencing was also performed" "0000446964" "00445392" "1" "04610" "04610" "2024-01-12 22:05:09" "" "" "MLPA;PCR" "DNA" "" "Dideoxy cycle sequencing was also used." "0000446965" "00445393" "1" "04610" "04610" "2024-01-13 12:32:04" "04610" "2024-01-13 15:32:10" "IHC" "DNA" "brain" "" "0000446966" "00444109" "1" "04610" "04610" "2024-01-13 15:03:20" "" "" "IHC;minigene;PCRq" "DNA;RNA;protein" "Brain" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 159 "{{screeningid}}" "{{geneid}}" "0000057160" "MAPT" "0000057161" "MAPT" "0000057163" "MAPT" "0000057164" "MAPT" "0000057165" "MAPT" "0000057166" "MAPT" "0000057167" "MAPT" "0000057168" "MAPT" "0000133630" "MAPT" "0000149753" "MAPT" "0000149754" "MAPT" "0000149755" "MAPT" "0000149756" "MAPT" "0000149757" "MAPT" "0000149758" "MAPT" "0000149759" "MAPT" "0000149760" "MAPT" "0000149761" "MAPT" "0000149762" "MAPT" "0000149763" "MAPT" "0000149764" "MAPT" "0000149765" "MAPT" "0000149766" "MAPT" "0000149767" "MAPT" "0000149768" "MAPT" "0000149769" "MAPT" "0000149770" "MAPT" "0000149771" "MAPT" "0000149772" "MAPT" "0000149773" "MAPT" "0000149774" "MAPT" "0000149775" "MAPT" "0000149776" "MAPT" "0000149777" "MAPT" "0000149778" "MAPT" "0000149779" "MAPT" "0000149780" "MAPT" "0000149781" "MAPT" "0000149782" "MAPT" "0000149783" "MAPT" "0000149784" "MAPT" "0000149785" "MAPT" "0000149786" "MAPT" "0000149787" "MAPT" "0000149788" "MAPT" "0000149789" "MAPT" "0000149790" "MAPT" "0000149791" "MAPT" "0000149792" "MAPT" "0000149793" "MAPT" "0000149794" "MAPT" "0000149795" "MAPT" "0000149796" "MAPT" "0000149797" "MAPT" "0000149798" "MAPT" "0000149799" "MAPT" "0000149800" "MAPT" "0000149801" "MAPT" "0000149802" "MAPT" "0000149803" "MAPT" "0000149804" "MAPT" "0000149805" "MAPT" "0000149806" "MAPT" "0000149807" "MAPT" "0000149808" "MAPT" "0000149809" "MAPT" "0000149810" "MAPT" "0000149811" "MAPT" "0000149812" "MAPT" "0000149813" "MAPT" "0000149814" "MAPT" "0000149815" "MAPT" "0000149816" "MAPT" "0000149817" "MAPT" "0000149818" "MAPT" "0000149819" "MAPT" "0000149820" "MAPT" "0000149821" "MAPT" "0000149822" "MAPT" "0000149823" "MAPT" "0000149824" "MAPT" "0000149825" "MAPT" "0000149826" "MAPT" "0000149827" "MAPT" "0000149828" "MAPT" "0000149829" "MAPT" "0000149830" "MAPT" "0000149831" "MAPT" "0000149832" "MAPT" "0000149833" "MAPT" "0000149834" "MAPT" "0000149835" "MAPT" "0000149836" "MAPT" "0000149837" "MAPT" "0000149838" "MAPT" "0000149839" "MAPT" "0000149840" "MAPT" "0000149841" "MAPT" "0000149842" "MAPT" "0000149843" "MAPT" "0000149844" "MAPT" "0000149845" "MAPT" "0000149846" "MAPT" "0000149847" "MAPT" "0000149849" "MAPT" "0000149850" "MAPT" "0000149851" "MAPT" "0000149864" "MAPT" "0000149865" "MAPT" "0000149866" "MAPT" "0000149867" "MAPT" "0000149868" "MAPT" "0000149869" "MAPT" "0000149870" "MAPT" "0000149872" "MAPT" "0000149883" "MAPT" "0000149884" "MAPT" "0000149900" "MAPT" "0000149901" "MAPT" "0000149902" "MAPT" "0000149903" "MAPT" "0000150031" "MAPT" "0000150032" "MAPT" "0000150040" "MAPT" "0000150052" "MAPT" "0000150063" "MAPT" "0000150095" "MAPT" "0000150096" "MAPT" "0000150105" "MAPT" "0000150136" "MAPT" "0000150165" "MAPT" "0000150174" "MAPT" "0000150175" "MAPT" "0000150176" "MAPT" "0000150212" "MAPT" "0000150213" "MAPT" "0000150214" "MAPT" "0000150234" "MAPT" "0000150235" "MAPT" "0000150253" "MAPT" "0000150268" "MAPT" "0000150269" "MAPT" "0000150298" "MAPT" "0000150337" "MAPT" "0000150496" "MAPT" "0000150538" "MAPT" "0000214697" "MAPT" "0000232359" "MAPT" "0000375632" "PKD2" "0000445569" "MAPT" "0000445607" "MAPT" "0000445629" "C9orf72" "0000445629" "MAPT" "0000446944" "C9orf72" "0000446944" "MAPT" "0000446964" "C9orf72" "0000446964" "MAPT" "0000446965" "MAPT" "0000446966" "MAPT" ## 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 = 345 "{{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}}" "0000087448" "0" "50" "17" "44049267" "44049267" "subst" "0.00034527" "01225" "MAPT_000009" "g.44049267C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45971901C>T" "" "VUS" "" "0000087449" "0" "50" "17" "44060841" "44060841" "subst" "0.00218944" "01225" "MAPT_000002" "g.44060841T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45983475T>G" "" "VUS" "" "0000087451" "0" "50" "17" "44068850" "44068850" "subst" "0.00145065" "01225" "MAPT_000003" "g.44068850G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45991484G>A" "" "VUS" "" "0000087452" "0" "50" "17" "44068866" "44068866" "subst" "0" "01225" "MAPT_000004" "g.44068866C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45991500C>A" "" "VUS" "" "0000087453" "0" "50" "17" "44073789" "44073789" "subst" "8.37549E-6" "01225" "MAPT_000005" "g.44073789G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45996423G>A" "" "VUS" "" "0000087454" "0" "50" "17" "44073860" "44073860" "subst" "0" "01225" "MAPT_000006" "g.44073860C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45996494C>A" "" "VUS" "" "0000087455" "0" "50" "17" "44073923" "44073923" "subst" "0.000631323" "01225" "MAPT_000007" "g.44073923G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45996557G>A" "" "VUS" "" "0000087456" "0" "50" "17" "44087763" "44087763" "subst" "0" "01225" "MAPT_000008" "g.44087763G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.46010397G>A" "" "VUS" "" "0000222874" "1" "90" "17" "44087745" "44087745" "subst" "0" "00006" "MAPT_000010" "g.44087745A>G" "" "{PMID:Iovino 2014:24292008}" "" "ex10 AAA>AAG (Lys298Glu)" "effect on splicing confirmed with mini-gene construct" "Germline" "" "" "0" "" "" "g.46010379A>G" "" "pathogenic" "" "0000243209" "0" "99" "17" "44039717" "44039717" "subst" "4.8821E-5" "02360" "MAPT_000037" "g.44039717G>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63750959" "0" "" "" "g.45962351G>A" "" "pathogenic" "" "0000243210" "0" "99" "17" "44039717" "44039717" "subst" "0" "02360" "MAPT_000038" "g.44039717G>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63750959" "0" "" "" "g.45962351G>T" "" "pathogenic" "" "0000243211" "0" "99" "17" "44073978" "44073978" "subst" "4.09363E-6" "02360" "MAPT_000041" "g.44073978A>C" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63750129" "0" "" "" "g.45996612A>C" "" "pathogenic" "" "0000243212" "0" "99" "17" "44073978" "44073978" "subst" "4.09363E-6" "02360" "MAPT_000041" "g.44073978A>C" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63750129" "0" "" "" "g.45996612A>C" "" "pathogenic" "" "0000243213" "0" "99" "17" "44073986" "44073986" "subst" "0" "02360" "MAPT_000042" "g.44073986A>G" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63751249" "0" "" "" "g.45996620A>G" "" "pathogenic" "" "0000243214" "0" "99" "17" "44074004" "44074004" "subst" "0" "02360" "MAPT_000043" "g.44074004C>G" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63750349" "0" "" "" "g.45996638C>G" "" "pathogenic" "" "0000243215" "0" "99" "17" "44074004" "44074004" "subst" "0" "02360" "MAPT_000043" "g.44074004C>G" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63750349" "0" "" "" "g.45996638C>G" "" "pathogenic" "" "0000243216" "0" "99" "17" "44074023" "44074023" "subst" "0" "02360" "MAPT_000044" "g.44074023G>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "rs63750376" "0" "" "" "g.45996657G>T" "" "pathogenic" "" "0000243217" "0" "99" "17" "44087690" "44087690" "subst" "0" "02360" "MAPT_000047" "g.44087690T>G" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "rs63750756" "0" "" "" "g.46010324T>G" "" "pathogenic" "" "0000243218" "0" "99" "17" "44087690" "44087690" "subst" "0" "02360" "MAPT_000047" "g.44087690T>G" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63750756" "0" "" "" "g.46010324T>G" "" "pathogenic" "" "0000243219" "0" "99" "17" "44087690" "44087690" "subst" "0" "02360" "MAPT_000047" "g.44087690T>G" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "rs63750756" "0" "" "" "g.46010324T>G" "" "pathogenic" "" "0000243220" "0" "99" "17" "44087690" "44087690" "subst" "0" "02360" "MAPT_000047" "g.44087690T>G" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63750756" "0" "" "" "g.46010324T>G" "" "pathogenic" "" "0000243221" "0" "99" "17" "44087690" "44087690" "subst" "0" "02360" "MAPT_000047" "g.44087690T>G" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "rs63750756" "0" "" "" "g.46010324T>G" "" "pathogenic" "" "0000243222" "0" "99" "17" "44087690" "44087690" "subst" "0" "02360" "MAPT_000047" "g.44087690T>G" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63750756" "0" "" "" "g.46010324T>G" "" "pathogenic" "" "0000243223" "0" "99" "17" "44087690" "44087690" "subst" "0" "02360" "MAPT_000047" "g.44087690T>G" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63750756" "0" "" "" "g.46010324T>G" "" "pathogenic" "" "0000243224" "0" "55" "17" "44087694" "44087696" "del" "0" "02360" "MAPT_000048" "g.44087694_44087696del" "" "" "" "" "Trinucleotide deletion resulting in deletion of 1 amino acid" "Unknown" "no" "rs63750688" "0" "" "" "g.46010328_46010330del" "" "VUS" "" "0000243225" "0" "55" "17" "44087694" "44087696" "del" "0" "02360" "MAPT_000048" "g.44087694_44087696del" "" "" "" "" "Trinucleotide deletion resulting in deletion of 1 amino acid" "Unknown" "no" "rs63750688" "0" "" "" "g.46010328_46010330del" "" "VUS" "" "0000243226" "0" "99" "17" "44087705" "44087705" "subst" "0" "02360" "MAPT_000049" "g.44087705T>C" "" "" "" "" "Silent point mutation in coding region affecting splicing of exon 10" "Unknown" "yes" "rs63751423" "0" "" "" "g.46010339T>C" "" "pathogenic" "" "0000243227" "0" "99" "17" "44087741" "44087741" "subst" "0" "02360" "MAPT_000052" "g.44087741T>C" "" "" "" "" "Silent point mutation in coding region affecting splicing of exon 10" "Unknown" "no" "rs63750912" "0" "" "" "g.46010375T>C" "" "pathogenic" "" "0000243228" "0" "99" "17" "44087739" "44087739" "subst" "0" "02360" "MAPT_000050" "g.44087739A>C" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63750416" "0" "" "" "g.46010373A>C" "" "pathogenic" "" "0000243229" "0" "99" "17" "44087740" "44087742" "del" "0" "02360" "MAPT_000051" "g.44087740_44087742del" "" "" "" "" "Homozygous mutation. /r/Trinucleotide deletion resulting in deletion of 1 amino acid" "Unknown" "no" "rs63751392" "0" "" "" "g.46010374_46010376del" "" "pathogenic" "" "0000243230" "0" "99" "17" "44087740" "44087742" "del" "0" "02360" "MAPT_000051" "g.44087740_44087742del" "" "" "" "" "Homozygous mutation. /r/Trinucleotide deletion resulting in deletion of 1 amino acid" "Unknown" "no" "rs63751392" "0" "" "" "g.46010374_46010376del" "" "pathogenic" "" "0000243231" "0" "99" "17" "44087754" "44087754" "subst" "0" "02360" "MAPT_000053" "g.44087754C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "rs63751438" "0" "" "" "g.46010388C>T" "" "pathogenic" "" "0000243232" "0" "99" "17" "44087754" "44087754" "subst" "0" "02360" "MAPT_000053" "g.44087754C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63751438" "0" "" "" "g.46010388C>T" "" "pathogenic" "" "0000243233" "0" "99" "17" "44087754" "44087754" "subst" "0" "02360" "MAPT_000053" "g.44087754C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63751438" "0" "" "" "g.46010388C>T" "" "pathogenic" "" "0000243234" "0" "99" "17" "44087754" "44087754" "subst" "0" "02360" "MAPT_000053" "g.44087754C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63751438" "0" "" "" "g.46010388C>T" "" "pathogenic" "" "0000243235" "0" "99" "17" "44087754" "44087754" "subst" "0" "02360" "MAPT_000053" "g.44087754C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63751438" "0" "" "" "g.46010388C>T" "" "pathogenic" "" "0000243236" "0" "99" "17" "44087754" "44087754" "subst" "0" "02360" "MAPT_000053" "g.44087754C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63751438" "0" "" "" "g.46010388C>T" "" "pathogenic" "" "0000243237" "0" "99" "17" "44087768" "44087768" "subst" "0" "02360" "MAPT_000059" "g.44087768T>C" "" "" "" "" "Silent point mutation in coding region affecting splicing of exon 10" "Unknown" "no" "rs63750568" "0" "" "" "g.46010402T>C" "" "pathogenic" "" "0000243238" "0" "99" "17" "44087768" "44087768" "subst" "0" "02360" "MAPT_000059" "g.44087768T>C" "" "" "" "" "Silent point mutation in coding region affecting splicing of exon 10" "Unknown" "no" "rs63750568" "0" "" "" "g.46010402T>C" "" "pathogenic" "" "0000243239" "0" "99" "17" "44087768" "44087768" "subst" "0" "02360" "MAPT_000059" "g.44087768T>C" "" "" "" "" "Silent point mutation in coding region affecting splicing of exon 10" "Unknown" "yes" "rs63750568" "0" "" "" "g.46010402T>C" "" "pathogenic" "" "0000243240" "0" "99" "17" "44087767" "44087767" "subst" "0" "02360" "MAPT_000057" "g.44087767G>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63751165" "0" "" "" "g.46010401G>A" "" "pathogenic" "" "0000243241" "0" "99" "17" "44087767" "44087767" "subst" "0" "02360" "MAPT_000057" "g.44087767G>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "rs63751165" "0" "" "" "g.46010401G>A" "" "pathogenic" "" "0000243242" "0" "99" "17" "44087767" "44087767" "subst" "0" "02360" "MAPT_000057" "g.44087767G>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63751165" "0" "" "" "g.46010401G>A" "" "pathogenic" "" "0000243243" "0" "99" "17" "44091637" "44091637" "subst" "0" "02360" "MAPT_000067" "g.44091637T>G" "" "" "" "" "Reduced Penetrance. /r/Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63749855" "0" "" "" "g.46014271T>G" "" "pathogenic" "" "0000243244" "0" "99" "17" "44091637" "44091637" "subst" "0" "02360" "MAPT_000067" "g.44091637T>G" "" "" "" "" "Reduced Penetrance. /r/Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63749855" "0" "" "" "g.46014271T>G" "" "pathogenic" "" "0000243245" "0" "99" "17" "44091652" "44091652" "subst" "0" "02360" "MAPT_000070" "g.44091652C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63750635" "0" "" "" "g.46014286C>T" "" "pathogenic" "" "0000243246" "0" "99" "17" "44095995" "44095995" "subst" "0" "02360" "MAPT_000074" "g.44095995G>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "rs63750570" "0" "" "" "g.46018629G>A" "" "pathogenic" "" "0000243247" "0" "99" "17" "44096011" "44096011" "subst" "0" "02360" "MAPT_000075" "g.44096011A>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63750711" "0" "" "" "g.46018645A>T" "" "pathogenic" "" "0000243248" "0" "99" "17" "44096041" "44096041" "subst" "0" "02360" "MAPT_000076" "g.44096041C>T" "" "" "" "" "Homozygous mutation. /r/Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63750425" "0" "" "" "g.46018675C>T" "" "pathogenic" "" "0000243249" "0" "99" "17" "44096092" "44096092" "subst" "0" "02360" "MAPT_000078" "g.44096092A>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63751264" "0" "" "" "g.46018726A>T" "" "pathogenic" "" "0000243250" "0" "99" "17" "44101376" "44101376" "subst" "0" "02360" "MAPT_000079" "g.44101376G>C" "" "" "" "" "Incomplete penetrance?. /r/Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63750512" "0" "" "" "g.46024010G>C" "" "pathogenic" "" "0000243251" "0" "99" "17" "44101376" "44101376" "subst" "0" "02360" "MAPT_000079" "g.44101376G>C" "" "" "" "" "Incomplete penetrance?. /r/Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63750512" "0" "" "" "g.46024010G>C" "" "pathogenic" "" "0000243252" "0" "99" "17" "44101376" "44101376" "subst" "1.21949E-5" "02360" "MAPT_000080" "g.44101376G>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63750512" "0" "" "" "g.46024010G>A" "" "pathogenic" "" "0000243253" "0" "99" "17" "44101376" "44101376" "subst" "1.21949E-5" "02360" "MAPT_000080" "g.44101376G>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63750512" "0" "" "" "g.46024010G>A" "" "pathogenic" "" "0000243254" "0" "99" "17" "44101427" "44101427" "subst" "1.62551E-5" "02360" "MAPT_000081" "g.44101427C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63750424" "0" "" "" "g.46024061C>T" "" "pathogenic" "" "0000243255" "0" "99" "17" "44101427" "44101427" "subst" "1.62551E-5" "02360" "MAPT_000081" "g.44101427C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "rs63750424" "0" "" "" "g.46024061C>T" "" "pathogenic" "" "0000243256" "0" "99" "17" "44101427" "44101427" "subst" "1.62551E-5" "02360" "MAPT_000081" "g.44101427C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63750424" "0" "" "" "g.46024061C>T" "" "pathogenic" "" "0000243257" "0" "99" "17" "44101427" "44101427" "subst" "1.62551E-5" "02360" "MAPT_000081" "g.44101427C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63750424" "0" "" "" "g.46024061C>T" "" "pathogenic" "" "0000243258" "0" "99" "17" "44101427" "44101427" "subst" "1.62551E-5" "02360" "MAPT_000081" "g.44101427C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "rs63750424" "0" "" "" "g.46024061C>T" "" "pathogenic" "" "0000243259" "0" "99" "17" "44101427" "44101427" "subst" "1.62551E-5" "02360" "MAPT_000081" "g.44101427C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "rs63750424" "0" "" "" "g.46024061C>T" "" "pathogenic" "" "0000243260" "0" "99" "17" "44101427" "44101427" "subst" "1.62551E-5" "02360" "MAPT_000081" "g.44101427C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "rs63750424" "0" "" "" "g.46024061C>T" "" "pathogenic" "" "0000243261" "0" "99" "17" "44101427" "44101427" "subst" "1.62551E-5" "02360" "MAPT_000081" "g.44101427C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63750424" "0" "" "" "g.46024061C>T" "" "pathogenic" "" "0000243262" "0" "99" "17" "44101427" "44101427" "subst" "1.62551E-5" "02360" "MAPT_000081" "g.44101427C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63750424" "0" "" "" "g.46024061C>T" "" "pathogenic" "" "0000243263" "0" "99" "17" "44087755" "44087755" "subst" "0" "02360" "MAPT_000055" "g.44087755C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "rs63751273" "0" "" "" "g.46010389C>T" "" "pathogenic" "" "0000243264" "0" "99" "17" "44087755" "44087755" "subst" "0" "02360" "MAPT_000055" "g.44087755C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63751273" "0" "" "" "g.46010389C>T" "" "pathogenic" "" "0000243265" "0" "99" "17" "44087755" "44087755" "subst" "0" "02360" "MAPT_000055" "g.44087755C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "rs63751273" "0" "" "" "g.46010389C>T" "" "pathogenic" "" "0000243266" "0" "99" "17" "44087755" "44087755" "subst" "0" "02360" "MAPT_000055" "g.44087755C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "rs63751273" "0" "" "" "g.46010389C>T" "" "pathogenic" "" "0000243267" "0" "99" "17" "44087755" "44087755" "subst" "0" "02360" "MAPT_000055" "g.44087755C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63751273" "0" "" "" "g.46010389C>T" "" "pathogenic" "" "0000243268" "0" "99" "17" "44087755" "44087755" "subst" "0" "02360" "MAPT_000055" "g.44087755C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63751273" "0" "" "" "g.46010389C>T" "" "pathogenic" "" "0000243269" "0" "99" "17" "44087755" "44087755" "subst" "0" "02360" "MAPT_000055" "g.44087755C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "rs63751273" "0" "" "" "g.46010389C>T" "" "pathogenic" "" "0000243270" "0" "99" "17" "44087755" "44087755" "subst" "0" "02360" "MAPT_000055" "g.44087755C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63751273" "0" "" "" "g.46010389C>T" "" "pathogenic" "" "0000243271" "0" "99" "17" "44087755" "44087755" "subst" "0" "02360" "MAPT_000055" "g.44087755C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63751273" "0" "" "" "g.46010389C>T" "" "pathogenic" "" "0000243272" "0" "99" "17" "44087755" "44087755" "subst" "0" "02360" "MAPT_000055" "g.44087755C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63751273" "0" "" "" "g.46010389C>T" "" "pathogenic" "" "0000243273" "0" "99" "17" "44087755" "44087755" "subst" "0" "02360" "MAPT_000055" "g.44087755C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63751273" "0" "" "" "g.46010389C>T" "" "pathogenic" "" "0000243274" "0" "99" "17" "44087755" "44087755" "subst" "0" "02360" "MAPT_000055" "g.44087755C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63751273" "0" "" "" "g.46010389C>T" "" "pathogenic" "" "0000243275" "0" "99" "17" "44087755" "44087755" "subst" "0" "02360" "MAPT_000055" "g.44087755C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63751273" "0" "" "" "g.46010389C>T" "" "pathogenic" "" "0000243276" "0" "99" "17" "44087755" "44087755" "subst" "0" "02360" "MAPT_000055" "g.44087755C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63751273" "0" "" "" "g.46010389C>T" "" "pathogenic" "" "0000243277" "0" "99" "17" "44087755" "44087755" "subst" "0" "02360" "MAPT_000055" "g.44087755C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63751273" "0" "" "" "g.46010389C>T" "" "pathogenic" "" "0000243278" "0" "99" "17" "44087755" "44087755" "subst" "0" "02360" "MAPT_000055" "g.44087755C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63751273" "0" "" "" "g.46010389C>T" "" "pathogenic" "" "0000243279" "0" "99" "17" "44087755" "44087755" "subst" "0" "02360" "MAPT_000055" "g.44087755C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63751273" "0" "" "" "g.46010389C>T" "" "pathogenic" "" "0000243280" "0" "99" "17" "44087755" "44087755" "subst" "0" "02360" "MAPT_000055" "g.44087755C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "rs63751273" "0" "" "" "g.46010389C>T" "" "pathogenic" "" "0000243281" "0" "99" "17" "44087755" "44087755" "subst" "0" "02360" "MAPT_000055" "g.44087755C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "rs63751273" "0" "" "" "g.46010389C>T" "" "pathogenic" "" "0000243282" "0" "99" "17" "44087755" "44087755" "subst" "0" "02360" "MAPT_000055" "g.44087755C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "rs63751273" "0" "" "" "g.46010389C>T" "" "pathogenic" "" "0000243283" "0" "99" "17" "44087755" "44087755" "subst" "0" "02360" "MAPT_000055" "g.44087755C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "rs63751273" "0" "" "" "g.46010389C>T" "" "pathogenic" "" "0000243284" "0" "99" "17" "44087755" "44087755" "subst" "0" "02360" "MAPT_000055" "g.44087755C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "rs63751273" "0" "" "" "g.46010389C>T" "" "pathogenic" "" "0000243285" "0" "99" "17" "44087755" "44087755" "subst" "0" "02360" "MAPT_000055" "g.44087755C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63751273" "0" "" "" "g.46010389C>T" "" "pathogenic" "" "0000243286" "0" "99" "17" "44087755" "44087755" "subst" "0" "02360" "MAPT_000055" "g.44087755C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63751273" "0" "" "" "g.46010389C>T" "" "pathogenic" "" "0000243287" "0" "99" "17" "44087755" "44087755" "subst" "0" "02360" "MAPT_000055" "g.44087755C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63751273" "0" "" "" "g.46010389C>T" "" "pathogenic" "" "0000243288" "0" "99" "17" "44087755" "44087755" "subst" "0" "02360" "MAPT_000055" "g.44087755C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63751273" "0" "" "" "g.46010389C>T" "" "pathogenic" "" "0000243289" "0" "99" "17" "44087755" "44087755" "subst" "0" "02360" "MAPT_000055" "g.44087755C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63751273" "0" "" "" "g.46010389C>T" "" "pathogenic" "" "0000243290" "0" "99" "17" "44087755" "44087755" "subst" "0" "02360" "MAPT_000055" "g.44087755C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63751273" "0" "" "" "g.46010389C>T" "" "pathogenic" "" "0000243291" "0" "99" "17" "44087755" "44087755" "subst" "0" "02360" "MAPT_000055" "g.44087755C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63751273" "0" "" "" "g.46010389C>T" "" "pathogenic" "" "0000243292" "0" "99" "17" "44087755" "44087755" "subst" "0" "02360" "MAPT_000055" "g.44087755C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63751273" "0" "" "" "g.46010389C>T" "" "pathogenic" "" "0000243293" "0" "99" "17" "44087755" "44087755" "subst" "0" "02360" "MAPT_000055" "g.44087755C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63751273" "0" "" "" "g.46010389C>T" "" "pathogenic" "" "0000243294" "0" "99" "17" "44087755" "44087755" "subst" "0" "02360" "MAPT_000055" "g.44087755C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63751273" "0" "" "" "g.46010389C>T" "" "pathogenic" "" "0000243295" "0" "99" "17" "44087771" "44087771" "subst" "0" "02360" "MAPT_000060" "g.44087771G>A" "" "" "" "" "Point mutation in intronic region affecting splicing of exon 10" "Unknown" "yes" "rs63750013" "0" "" "" "g.46010405G>A" "" "pathogenic" "" "0000243296" "0" "99" "17" "44087771" "44087771" "subst" "0" "02360" "MAPT_000060" "g.44087771G>A" "" "" "" "" "Point mutation in intronic region affecting splicing of exon 10" "Unknown" "no" "rs63750013" "0" "" "" "g.46010405G>A" "" "pathogenic" "" "0000243297" "0" "99" "17" "44087771" "44087771" "subst" "0" "02360" "MAPT_000060" "g.44087771G>A" "" "" "" "" "Point mutation in intronic region affecting splicing of exon 10" "Unknown" "no" "rs63750013" "0" "" "" "g.46010405G>A" "" "pathogenic" "" "0000243298" "0" "99" "17" "44087779" "44087779" "subst" "0" "02360" "MAPT_000061" "g.44087779T>C" "" "" "" "" "Point mutation in intronic region affecting splicing of exon 10" "Unknown" "no" "rs63751394" "0" "" "" "g.46010413T>C" "" "pathogenic" "" "0000243299" "0" "99" "17" "44087780" "44087780" "subst" "0" "02360" "MAPT_000062" "g.44087780C>T" "" "" "" "" "Point mutation in intronic region affecting splicing of exon 10" "Unknown" "no" "rs63750916" "0" "" "" "g.46010414C>T" "" "pathogenic" "" "0000243300" "0" "99" "17" "44087781" "44087781" "subst" "0" "02360" "MAPT_000063" "g.44087781A>G" "" "" "" "" "Point mutation in intronic region affecting splicing of exon 10" "Unknown" "no" "rs63750308" "0" "" "" "g.46010415A>G" "" "pathogenic" "" "0000243301" "0" "99" "17" "44087782" "44087782" "subst" "0" "02360" "MAPT_000064" "g.44087782C>T" "" "" "" "" "Point mutation in intronic region affecting splicing of exon 10" "Unknown" "yes" "rs63750972" "0" "" "" "g.46010416C>T" "" "pathogenic" "" "0000243302" "0" "99" "17" "44087782" "44087782" "subst" "0" "02360" "MAPT_000064" "g.44087782C>T" "" "" "" "" "Point mutation in intronic region affecting splicing of exon 10" "Unknown" "no" "rs63750972" "0" "" "" "g.46010416C>T" "" "pathogenic" "" "0000243303" "0" "99" "17" "44087784" "44087784" "subst" "0" "02360" "MAPT_000065" "g.44087784C>T" "" "" "" "" "Point mutation in intronic region affecting splicing of exon 10" "Unknown" "yes" "rs63751011" "0" "" "" "g.46010418C>T" "" "pathogenic" "" "0000243304" "0" "99" "17" "44087784" "44087784" "subst" "0" "02360" "MAPT_000065" "g.44087784C>T" "" "" "" "" "Point mutation in intronic region affecting splicing of exon 10" "Unknown" "no" "rs63751011" "0" "" "" "g.46010418C>T" "" "pathogenic" "" "0000243305" "0" "99" "17" "44087784" "44087784" "subst" "0" "02360" "MAPT_000065" "g.44087784C>T" "" "" "" "" "Point mutation in intronic region affecting splicing of exon 10" "Unknown" "yes" "rs63751011" "0" "" "" "g.46010418C>T" "" "pathogenic" "" "0000243306" "0" "99" "17" "44087784" "44087784" "subst" "0" "02360" "MAPT_000065" "g.44087784C>T" "" "" "" "" "Point mutation in intronic region affecting splicing of exon 10" "Unknown" "no" "rs63751011" "0" "" "" "g.46010418C>T" "" "pathogenic" "" "0000243307" "0" "99" "17" "44087784" "44087784" "subst" "0" "02360" "MAPT_000065" "g.44087784C>T" "" "" "" "" "Point mutation in intronic region affecting splicing of exon 10" "Unknown" "no" "rs63751011" "0" "" "" "g.46010418C>T" "" "pathogenic" "" "0000243308" "0" "99" "17" "44087784" "44087784" "subst" "0" "02360" "MAPT_000065" "g.44087784C>T" "" "" "" "" "Point mutation in intronic region affecting splicing of exon 10" "Unknown" "no" "rs63751011" "0" "" "" "g.46010418C>T" "" "pathogenic" "" "0000243309" "0" "99" "17" "44087784" "44087784" "subst" "0" "02360" "MAPT_000065" "g.44087784C>T" "" "" "" "" "Point mutation in intronic region affecting splicing of exon 10" "Unknown" "no" "rs63751011" "0" "" "" "g.46010418C>T" "" "pathogenic" "" "0000243310" "0" "99" "17" "44087784" "44087784" "subst" "0" "02360" "MAPT_000065" "g.44087784C>T" "" "" "" "" "Point mutation in intronic region affecting splicing of exon 10" "Unknown" "no" "rs63751011" "0" "" "" "g.46010418C>T" "" "pathogenic" "" "0000243311" "0" "99" "17" "44087784" "44087784" "subst" "0" "02360" "MAPT_000065" "g.44087784C>T" "" "" "" "" "Point mutation in intronic region affecting splicing of exon 10" "Unknown" "no" "rs63751011" "0" "" "" "g.46010418C>T" "" "pathogenic" "" "0000243312" "0" "99" "17" "44087784" "44087784" "subst" "0" "02360" "MAPT_000065" "g.44087784C>T" "" "" "" "" "Point mutation in intronic region affecting splicing of exon 10" "Unknown" "yes" "rs63751011" "0" "" "" "g.46010418C>T" "" "pathogenic" "" "0000243313" "0" "99" "17" "44087784" "44087784" "subst" "0" "02360" "MAPT_000065" "g.44087784C>T" "" "" "" "" "Point mutation in intronic region affecting splicing of exon 10" "Unknown" "no" "rs63751011" "0" "" "" "g.46010418C>T" "" "pathogenic" "" "0000243314" "0" "99" "17" "44087784" "44087784" "subst" "0" "02360" "MAPT_000065" "g.44087784C>T" "" "" "" "" "Point mutation in intronic region affecting splicing of exon 10" "Unknown" "no" "rs63751011" "0" "" "" "g.46010418C>T" "" "pathogenic" "" "0000243315" "0" "99" "17" "44087784" "44087784" "subst" "0" "02360" "MAPT_000065" "g.44087784C>T" "" "" "" "" "Point mutation in intronic region affecting splicing of exon 10" "Unknown" "no" "rs63751011" "0" "" "" "g.46010418C>T" "" "pathogenic" "" "0000243316" "0" "99" "17" "44087784" "44087784" "subst" "0" "02360" "MAPT_000065" "g.44087784C>T" "" "" "" "" "Point mutation in intronic region affecting splicing of exon 10" "Unknown" "no" "rs63751011" "0" "" "" "g.46010418C>T" "" "pathogenic" "" "0000243317" "0" "99" "17" "44087784" "44087784" "subst" "0" "02360" "MAPT_000065" "g.44087784C>T" "" "" "" "" "Point mutation in intronic region affecting splicing of exon 10" "Unknown" "no" "rs63751011" "0" "" "" "g.46010418C>T" "" "pathogenic" "" "0000243318" "0" "99" "17" "44087784" "44087784" "subst" "0" "02360" "MAPT_000065" "g.44087784C>T" "" "" "" "" "Point mutation in intronic region affecting splicing of exon 10" "Unknown" "no" "rs63751011" "0" "" "" "g.46010418C>T" "" "pathogenic" "" "0000243319" "0" "99" "17" "44087784" "44087784" "subst" "0" "02360" "MAPT_000065" "g.44087784C>T" "" "" "" "" "Point mutation in intronic region affecting splicing of exon 10" "Unknown" "no" "rs63751011" "0" "" "" "g.46010418C>T" "" "pathogenic" "" "0000243320" "0" "99" "17" "44087784" "44087784" "subst" "0" "02360" "MAPT_000065" "g.44087784C>T" "" "" "" "" "Point mutation in intronic region affecting splicing of exon 10" "Unknown" "no" "rs63751011" "0" "" "" "g.46010418C>T" "" "pathogenic" "" "0000243321" "0" "99" "17" "44087784" "44087784" "subst" "0" "02360" "MAPT_000065" "g.44087784C>T" "" "" "" "" "Point mutation in intronic region affecting splicing of exon 10" "Unknown" "no" "rs63751011" "0" "" "" "g.46010418C>T" "" "pathogenic" "" "0000243322" "0" "99" "17" "44087784" "44087784" "subst" "0" "02360" "MAPT_000065" "g.44087784C>T" "" "" "" "" "Point mutation in intronic region affecting splicing of exon 10" "Unknown" "yes" "rs63751011" "0" "" "" "g.46010418C>T" "" "pathogenic" "" "0000243323" "0" "99" "17" "44087784" "44087784" "subst" "0" "02360" "MAPT_000065" "g.44087784C>T" "" "" "" "" "Point mutation in intronic region affecting splicing of exon 10" "Unknown" "no" "rs63751011" "0" "" "" "g.46010418C>T" "" "pathogenic" "" "0000243324" "0" "99" "17" "44087784" "44087784" "subst" "0" "02360" "MAPT_000065" "g.44087784C>T" "" "" "" "" "Point mutation in intronic region affecting splicing of exon 10" "Unknown" "no" "rs63751011" "0" "" "" "g.46010418C>T" "" "pathogenic" "" "0000243325" "0" "99" "17" "44087784" "44087784" "subst" "0" "02360" "MAPT_000065" "g.44087784C>T" "" "" "" "" "Point mutation in intronic region affecting splicing of exon 10" "Unknown" "no" "rs63751011" "0" "" "" "g.46010418C>T" "" "pathogenic" "" "0000243326" "0" "99" "17" "44087784" "44087784" "subst" "0" "02360" "MAPT_000065" "g.44087784C>T" "" "" "" "" "Point mutation in intronic region affecting splicing of exon 10" "Unknown" "yes" "rs63751011" "0" "" "" "g.46010418C>T" "" "pathogenic" "" "0000243327" "0" "99" "17" "44087784" "44087784" "subst" "0" "02360" "MAPT_000065" "g.44087784C>T" "" "" "" "" "Point mutation in intronic region affecting splicing of exon 10" "Unknown" "no" "rs63751011" "0" "" "" "g.46010418C>T" "" "pathogenic" "" "0000243328" "0" "99" "17" "44087784" "44087784" "subst" "0" "02360" "MAPT_000065" "g.44087784C>T" "" "" "" "" "Point mutation in intronic region affecting splicing of exon 10" "Unknown" "no" "rs63751011" "0" "" "" "g.46010418C>T" "" "pathogenic" "" "0000243329" "0" "99" "17" "44087784" "44087784" "subst" "0" "02360" "MAPT_000065" "g.44087784C>T" "" "" "" "" "Point mutation in intronic region affecting splicing of exon 10" "Unknown" "no" "rs63751011" "0" "" "" "g.46010418C>T" "" "pathogenic" "" "0000243330" "0" "99" "17" "44087787" "44087787" "subst" "1.25091E-5" "02360" "MAPT_000066" "g.44087787C>G" "" "" "" "" "Point mutation in intronic region affecting splicing of exon 10" "Unknown" "no" "rs63750162" "0" "" "" "g.46010421C>G" "" "pathogenic" "" "0000243331" "0" "99" "17" "44095993" "44095993" "subst" "0" "02360" "MAPT_000073" "g.44095993A>G" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63750573" "0" "" "" "g.46018627A>G" "" "pathogenic" "" "0000243341" "0" "99" "17" "44091643" "44091643" "subst" "0" "02360" "MAPT_000069" "g.44091643A>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "rs63750092" "0" "" "" "g.46014277A>T" "" "pathogenic" "" "0000243342" "0" "99" "17" "44101491" "44101491" "subst" "0" "02360" "MAPT_000083" "g.44101491C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "rs63750991" "0" "" "" "g.46024125C>T" "" "pathogenic" "" "0000243343" "0" "11" "17" "44051786" "44051786" "subst" "2.91803E-5" "02360" "MAPT_000040" "g.44051786G>A" "" "" "" "" "Not segregating with disease: Detected in 1 patient but not in 2 affected relatives.. /r/Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63751135" "0" "" "" "g.45974420G>A" "" "benign" "" "0000243354" "0" "99" "17" "44091638" "44091638" "subst" "0" "02360" "MAPT_000068" "g.44091638G>A" "" "" "" "" "Silent point mutation in coding region" "Unknown" "no" "rs63751231" "0" "" "" "g.46014272G>A" "" "pathogenic" "" "0000243358" "0" "99" "17" "44095990" "44095990" "subst" "0" "02360" "MAPT_000072" "g.44095990G>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63750905" "0" "" "" "g.46018624G>T" "" "pathogenic" "" "0000243359" "0" "99" "17" "44087761" "44087761" "subst" "0" "02360" "MAPT_000056" "g.44087761G>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "rs63751391" "0" "" "" "g.46010395G>T" "" "pathogenic" "" "0000243360" "0" "99" "17" "44101481" "44101481" "subst" "3.25058E-5" "02360" "MAPT_000082" "g.44101481C>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63750191" "0" "" "" "g.46024115C>A" "" "pathogenic" "" "0000243552" "0" "99" "17" "44095989" "44095989" "subst" "0" "02360" "MAPT_000071" "g.44095989G>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63750095" "0" "" "" "g.46018623G>A" "" "pathogenic" "" "0000243570" "0" "99" "17" "44087666" "44087666" "subst" "0" "02360" "MAPT_000046" "g.44087666G>T" "" "" "" "" "Point mutation in intronic region strengthening the polypyrimidine tract and affecting splicing of exon 10" "Unknown" "yes" "rs63749974" "0" "" "" "g.46010300G>T" "" "pathogenic" "" "0000243592" "0" "99" "17" "44096073" "44096073" "subst" "2.03029E-5" "02360" "MAPT_000077" "g.44096073G>A" "" "" "" "" "Incomplete Penetrance. /r/Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63750869" "0" "" "" "g.46018707G>A" "" "pathogenic" "" "0000243593" "0" "99" "17" "44096073" "44096073" "subst" "2.03029E-5" "02360" "MAPT_000077" "g.44096073G>A" "" "" "" "" "Incomplete Penetrance. /r/Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63750869" "0" "" "" "g.46018707G>A" "" "pathogenic" "" "0000243599" "0" "99" "17" "44087754" "44087754" "subst" "0" "02360" "MAPT_000054" "g.44087754C>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63751438" "0" "" "" "g.46010388C>A" "" "pathogenic" "" "0000243697" "0" "99" "17" "44087767" "44087767" "subst" "0" "02360" "MAPT_000058" "g.44087767G>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution and affecting exon 10 splicing" "Unknown" "no" "" "0" "" "" "g.46010401G>T" "" "pathogenic" "" "0000243707" "0" "99" "17" "44074025" "44074025" "subst" "4.11974E-6" "02360" "MAPT_000045" "g.44074025G>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.45996659G>A" "" "pathogenic" "" "0000243970" "0" "15" "17" "41443634" "41443634" "subst" "0" "02360" "MAPT_000036" "g.41443634G>A" "" "" "" "" "Does not affect MAPT exon 10 splicing in vitro; observed in a family also segregating the GRN Arg493X mutation; observed. /r/Point mutation in intronic region predicted not to affect splicing of exon 10\"\"" "Unknown" "" "rs63751443" "0" "" "" "g.43366266G>A" "" "benign" "" "0000243971" "0" "15" "17" "44039757" "44039757" "subst" "7.32017E-5" "02360" "MAPT_000013" "g.44039757C>T" "" "" "" "" "Observed in 1 Asian individual of the Human Genome Diversity Panel. /r/Silent point mutation in coding region\"\"" "Unknown" "" "rs63750811" "0" "" "" "g.45962391C>T" "" "benign" "" "0000243972" "0" "15" "17" "44039820" "44039820" "subst" "0.00197782" "02360" "MAPT_000015" "g.44039820G>A" "" "" "" "" "Silent point mutation in coding region" "Unknown" "" "rs63750529" "0" "" "" "g.45962454G>A" "" "benign" "" "0000243973" "0" "15" "17" "44060775" "44060775" "subst" "0.146093" "02360" "MAPT_000016" "g.44060775C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "" "rs63750417" "0" "" "" "g.45983409C>T" "" "benign" "" "0000243974" "0" "15" "17" "44060859" "44060859" "subst" "0.0397938" "02360" "MAPT_000017" "g.44060859A>G" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "" "rs63750072" "0" "" "" "g.45983493A>G" "" "benign" "" "0000243975" "0" "15" "17" "44061023" "44061023" "subst" "0.145442" "02360" "MAPT_000018" "g.44061023G>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "" "rs62063786" "0" "" "" "g.45983657G>A" "" "benign" "" "0000243976" "0" "15" "17" "44061025" "44061025" "subst" "0.128275" "02360" "MAPT_000019" "g.44061025C>T" "" "" "" "" "Silent point mutation in coding region" "Unknown" "" "rs63750222" "0" "" "" "g.45983659C>T" "" "benign" "" "0000243977" "0" "15" "17" "44061036" "44061036" "subst" "0.14545" "02360" "MAPT_000020" "g.44061036T>C" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "" "rs62063787" "0" "" "" "g.45983670T>C" "" "benign" "" "0000243978" "0" "15" "17" "44061278" "44061278" "subst" "0.146538" "02360" "MAPT_000021" "g.44061278C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "" "rs63750862" "0" "" "" "g.45983912C>T" "" "benign" "" "0000243979" "0" "15" "17" "41423219" "41423219" "subst" "0" "02360" "MAPT_000022" "g.41423219T>C" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "" "rs2258689" "0" "" "" "g.43345851T>C" "" "benign" "" "0000243980" "0" "15" "17" "44067400" "44067400" "subst" "0.145575" "02360" "MAPT_000023" "g.44067400T>C" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "" "rs10445337" "0" "" "" "g.45990034T>C" "" "benign" "" "0000243981" "0" "15" "17" "44068924" "44068924" "subst" "0.14484" "02360" "MAPT_000024" "g.44068924G>A" "" "" "" "" "Silent point mutation in coding region" "Unknown" "" "rs1052551" "0" "" "" "g.45991558G>A" "" "benign" "" "0000243982" "0" "15" "17" "44068928" "44068928" "subst" "0.00354792" "02360" "MAPT_000025" "g.44068928G>A" "" "" "" "" "Not segregating with disease: Detected in 1 patient but not in 1 affected relative.. /r/Point mutation in coding region predicting an amino acid substitution" "Unknown" "" "rs63750612" "0" "" "" "g.45991562G>A" "" "benign" "" "0000243983" "0" "15" "17" "44071294" "44071294" "subst" "0.144302" "02360" "MAPT_000026" "g.44071294T>C" "" "" "" "" "Silent point mutation in coding region" "Unknown" "" "rs62063845" "0" "" "" "g.45993928T>C" "" "benign" "" "0000243984" "0" "15" "17" "41429726" "41429726" "subst" "0" "02360" "MAPT_000028" "g.41429726A>G" "" "" "" "" "Silent point mutation in coding region" "Unknown" "" "rs1052553" "0" "" "" "g.43352358A>G" "" "benign" "" "0000243985" "0" "15" "17" "44073973" "44073973" "subst" "0.144884" "02360" "MAPT_000030" "g.44073973T>C" "" "" "" "" "Silent point mutation in coding region" "Unknown" "" "rs17652121" "0" "" "" "g.45996607T>C" "" "benign" "" "0000243986" "0" "15" "17" "44074018" "44074018" "subst" "0.0353225" "02360" "MAPT_000032" "g.44074018G>A" "" "" "" "" "Silent point mutation in coding region" "Unknown" "" "rs11568305" "0" "" "" "g.45996652G>A" "" "benign" "" "0000243987" "0" "15" "17" "44087756" "44087756" "subst" "7.75615E-5" "02360" "MAPT_000034" "g.44087756G>A" "" "" "" "" "Silent point mutation in coding region" "Unknown" "" "rs63751395" "0" "" "" "g.46010390G>A" "" "benign" "" "0000244001" "0" "15" "17" "41429760" "41429760" "subst" "0" "02360" "MAPT_000029" "g.41429760G>A" "" "" "" "" "Observed in an FTD patient with tau-negative brain pathology also carrying the GRN IVS11-15_EX12+177del mutation.. /r/Point mutation in coding region predicting an amino acid substitution\"\"" "Unknown" "" "rs63750096" "0" "" "" "g.43352392G>A" "" "benign" "" "0000244002" "0" "15" "17" "44087793" "44087793" "subst" "0.000102046" "02360" "MAPT_000035" "g.44087793C>T" "" "" "" "" "Observed in 1 FTD patient and 1 unaffected individual. /r/Point mutation in intronic region predicted not to affect splicing of exon 10" "Unknown" "" "rs63750117" "0" "" "" "g.46010427C>T" "" "benign" "" "0000244052" "0" "15" "17" "44039753" "44039753" "subst" "0.000178914" "02360" "MAPT_000012" "g.44039753C>T" "" "" "" "" "Observed in 1 African individual of the Human Genome Diversity Panel. /r/Point mutation in coding region predicting an amino acid substitution\"\"" "Unknown" "" "" "0" "" "" "g.45962387C>T" "" "benign" "" "0000244053" "0" "15" "17" "44039791" "44039791" "subst" "3.2551E-5" "02360" "MAPT_000014" "g.44039791A>G" "" "" "" "" "Observed in 1 African individual of the Human Genome Diversity Panel. /r/Point mutation in coding region predicting an amino acid substitution\"\"" "Unknown" "" "" "0" "" "" "g.45962425A>G" "" "benign" "" "0000244054" "0" "15" "17" "44087751" "44087751" "subst" "0.000146701" "02360" "MAPT_000033" "g.44087751G>A" "" "" "" "" "Observed in 1 African individual of the Human Genome Diversity Panel. /r/Point mutation in coding region predicting an amino acid substitution\"\"" "Unknown" "" "rs63751438" "0" "" "" "g.46010385G>A" "" "benign" "" "0000244071" "0" "15" "17" "44039745" "44039745" "subst" "4.06656E-5" "02360" "MAPT_000011" "g.44039745C>T" "" "" "" "" "Observed in 1 African individual of the Human Genome Diversity Panel. /r/Silent point mutation in coding region\"\"" "Unknown" "" "" "0" "" "" "g.45962379C>T" "" "benign" "" "0000244072" "0" "15" "17" "44073808" "44073808" "subst" "2.9373E-5" "02360" "MAPT_000027" "g.44073808C>T" "" "" "" "" "Observed in 1 Asian individual of the Human Genome Diversity Panel. /r/Silent point mutation in coding region\"\"" "Unknown" "" "" "0" "" "" "g.45996442C>T" "" "benign" "" "0000244073" "0" "15" "17" "44074006" "44074006" "subst" "0.000599855" "02360" "MAPT_000031" "g.44074006G>A" "" "" "" "" "Observed in 1 Asian individual of the Human Genome Diversity Panel. /r/Silent point mutation in coding region\"\"" "Unknown" "" "" "0" "" "" "g.45996640G>A" "" "benign" "" "0000247426" "0" "10" "17" "44073889" "44073889" "subst" "0.144623" "02330" "MAPT_000028" "g.44073889A>G" "" "" "" "MAPT(NM_001123066.4):c.1686A>G (p.A562=), MAPT(NM_005910.5):c.681A>G (p.A227=), MAPT(NM_005910.6):c.681A>G (p.A227=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45996523A>G" "" "benign" "" "0000247427" "0" "10" "17" "44051846" "44051846" "subst" "0.145586" "02330" "MAPT_000112" "g.44051846A>G" "" "" "" "MAPT(NM_001123066.4):c.307+9A>G, MAPT(NM_005910.5):c.307+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45974480A>G" "" "benign" "" "0000247433" "0" "10" "17" "44039691" "44039691" "subst" "0.144482" "02330" "MAPT_000084" "g.44039691A>G" "" "" "" "MAPT(NM_001123066.4):c.-13A>G, MAPT(NM_005910.5):c.-13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45962325A>G" "" "benign" "" "0000247436" "0" "10" "17" "44060859" "44060859" "subst" "0.0397938" "02330" "MAPT_000017" "g.44060859A>G" "" "" "" "MAPT(NM_001123066.3):c.689A>G (p.Q230R), MAPT(NM_001123066.4):c.689A>G (p.Q230R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45983493A>G" "" "benign" "" "0000249887" "0" "10" "17" "44073889" "44073889" "subst" "0.144623" "02329" "MAPT_000028" "g.44073889A>G" "" "" "" "MAPT(NM_001123066.4):c.1686A>G (p.A562=), MAPT(NM_005910.5):c.681A>G (p.A227=), MAPT(NM_005910.6):c.681A>G (p.A227=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45996523A>G" "" "benign" "" "0000249895" "0" "10" "17" "44051846" "44051846" "subst" "0.145586" "02329" "MAPT_000112" "g.44051846A>G" "" "" "" "MAPT(NM_001123066.4):c.307+9A>G, MAPT(NM_005910.5):c.307+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45974480A>G" "" "benign" "" "0000249999" "0" "10" "17" "44060859" "44060859" "subst" "0.0397938" "02329" "MAPT_000017" "g.44060859A>G" "" "" "" "MAPT(NM_001123066.3):c.689A>G (p.Q230R), MAPT(NM_001123066.4):c.689A>G (p.Q230R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45983493A>G" "" "benign" "" "0000250859" "0" "10" "17" "44060859" "44060859" "subst" "0.0397938" "02326" "MAPT_000017" "g.44060859A>G" "" "" "" "MAPT(NM_001123066.3):c.689A>G (p.Q230R), MAPT(NM_001123066.4):c.689A>G (p.Q230R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45983493A>G" "" "benign" "" "0000253111" "0" "10" "17" "44073889" "44073889" "subst" "0.144623" "01943" "MAPT_000028" "g.44073889A>G" "" "" "" "MAPT(NM_001123066.4):c.1686A>G (p.A562=), MAPT(NM_005910.5):c.681A>G (p.A227=), MAPT(NM_005910.6):c.681A>G (p.A227=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45996523A>G" "" "benign" "" "0000253119" "0" "10" "17" "44051846" "44051846" "subst" "0.145586" "01943" "MAPT_000112" "g.44051846A>G" "" "" "" "MAPT(NM_001123066.4):c.307+9A>G, MAPT(NM_005910.5):c.307+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45974480A>G" "" "benign" "" "0000253423" "0" "10" "17" "44039691" "44039691" "subst" "0.144482" "01943" "MAPT_000084" "g.44039691A>G" "" "" "" "MAPT(NM_001123066.4):c.-13A>G, MAPT(NM_005910.5):c.-13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45962325A>G" "" "benign" "" "0000256380" "0" "50" "17" "44087739" "44087739" "subst" "0" "01943" "MAPT_000106" "g.44087739A>G" "" "" "" "MAPT(NM_005910.5):c.886A>G (p.N296D), MAPT(NM_005910.6):c.886A>G (p.N296D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46010373A>G" "" "VUS" "" "0000279592" "0" "50" "17" "44039824" "44039824" "subst" "3.6729E-5" "02330" "MAPT_000085" "g.44039824G>A" "" "" "" "MAPT(NM_001123066.4):c.121G>A (p.A41T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45962458G>A" "" "VUS" "" "0000279593" "0" "10" "17" "44067382" "44067382" "subst" "0.281648" "02330" "MAPT_000022" "g.44067382T>C" "" "" "" "MAPT(NM_001123066.3):c.1321T>C (p.Y441H), MAPT(NM_001123066.4):c.1321T>C (p.Y441H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45990016T>C" "" "benign" "" "0000279594" "0" "10" "17" "44067400" "44067400" "subst" "0.145575" "02330" "MAPT_000023" "g.44067400T>C" "" "" "" "MAPT(NM_001123066.4):c.1339T>C (p.S447P), MAPT(NM_001377265.1):c.1564T>C (p.S522P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45990034T>C" "" "benign" "" "0000279595" "0" "10" "17" "44068924" "44068924" "subst" "0.14484" "02330" "MAPT_000024" "g.44068924G>A" "" "" "" "MAPT(NM_001123066.4):c.1479G>A (p.P493=), MAPT(NM_005910.5):c.528G>A (p.P176=), MAPT(NM_005910.6):c.528G>A (p.P176=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45991558G>A" "" "benign" "" "0000279596" "0" "10" "17" "44071294" "44071294" "subst" "0.144302" "02330" "MAPT_000026" "g.44071294T>C" "" "" "" "MAPT(NM_001123066.3):c.1512T>C (p.T504=), MAPT(NM_001123066.4):c.1512T>C (p.T504=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45993928T>C" "" "benign" "" "0000279597" "0" "10" "17" "44073973" "44073973" "subst" "0.144884" "02330" "MAPT_000030" "g.44073973T>C" "" "" "" "MAPT(NM_001123066.4):c.1770T>C (p.N590=), MAPT(NM_001377265.1):c.1941T>C (p.N647=), MAPT(NM_005910.5):c.765T>C (p.N255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45996607T>C" "" "benign" "" "0000279598" "0" "10" "17" "44074018" "44074018" "subst" "0.0353225" "02330" "MAPT_000032" "g.44074018G>A" "" "" "" "MAPT(NM_001123066.3):c.1815G>A (p.P605=), MAPT(NM_001123066.4):c.1815G>A (p.P605=), MAPT(NM_005910.5):c.810G>A (p.P270=), MAPT(NM_005910.6):c.810G>..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45996652G>A" "" "benign" "" "0000279599" "0" "10" "17" "44049329" "44049329" "subst" "0.145346" "02330" "MAPT_000087" "g.44049329C>T" "" "" "" "MAPT(NM_001123066.4):c.220+18C>T, MAPT(NM_001377265.1):c.220+18C>T, MAPT(NM_005910.5):c.220+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45971963C>T" "" "benign" "" "0000279600" "0" "50" "17" "44051814" "44051814" "subst" "5.56131E-5" "02330" "MAPT_000090" "g.44051814C>T" "" "" "" "MAPT(NM_001123066.4):c.284C>T (p.T95M), MAPT(NM_005910.6):c.284C>T (p.T95M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45974448C>T" "" "VUS" "" "0000279601" "0" "10" "17" "44060775" "44060775" "subst" "0.146093" "02330" "MAPT_000016" "g.44060775C>T" "" "" "" "MAPT(NM_001123066.4):c.605C>T (p.P202L), MAPT(NM_001377265.1):c.830C>T (p.P277L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45983409C>T" "" "benign" "" "0000279602" "0" "30" "17" "44060807" "44060807" "subst" "0.00333162" "02330" "MAPT_000092" "g.44060807G>A" "" "" "" "MAPT(NM_001123066.3):c.637G>A (p.G213R), MAPT(NM_001123066.4):c.637G>A (p.G213R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45983441G>A" "" "likely benign" "" "0000279603" "0" "10" "17" "44061023" "44061023" "subst" "0.145442" "02330" "MAPT_000018" "g.44061023G>A" "" "" "" "MAPT(NM_001123066.4):c.853G>A (p.D285N), MAPT(NM_001377265.1):c.1078G>A (p.D360N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45983657G>A" "" "benign" "" "0000279604" "0" "10" "17" "44061025" "44061025" "subst" "0.128275" "02330" "MAPT_000019" "g.44061025C>T" "" "" "" "MAPT(NM_001123066.4):c.855C>T (p.D285=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45983659C>T" "" "benign" "" "0000279605" "0" "10" "17" "44061036" "44061036" "subst" "0.14545" "02330" "MAPT_000020" "g.44061036T>C" "" "" "" "MAPT(NM_001123066.4):c.866T>C (p.V289A), MAPT(NM_001377265.1):c.1091T>C (p.V364A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45983670T>C" "" "benign" "" "0000281695" "0" "10" "17" "44109474" "44109474" "subst" "0.376738" "02325" "KANSL1_000044" "g.44109474G>A" "" "" "" "KANSL1(NM_001193466.2):c.3029C>T (p.P1010L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46032108G>A" "" "benign" "" "0000283624" "0" "30" "17" "44061271" "44061271" "subst" "0.000231338" "02329" "MAPT_000095" "g.44061271C>T" "" "" "" "MAPT(NM_001123066.3):c.1101C>T (p.P367=), MAPT(NM_001123066.4):c.1101C>T (p.P367=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45983905C>T" "" "likely benign" "" "0000283625" "0" "10" "17" "44067382" "44067382" "subst" "0.281648" "02329" "MAPT_000022" "g.44067382T>C" "" "" "" "MAPT(NM_001123066.3):c.1321T>C (p.Y441H), MAPT(NM_001123066.4):c.1321T>C (p.Y441H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45990016T>C" "" "benign" "" "0000283626" "0" "10" "17" "44067400" "44067400" "subst" "0.145575" "02329" "MAPT_000023" "g.44067400T>C" "" "" "" "MAPT(NM_001123066.4):c.1339T>C (p.S447P), MAPT(NM_001377265.1):c.1564T>C (p.S522P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45990034T>C" "" "benign" "" "0000283627" "0" "10" "17" "44068924" "44068924" "subst" "0.14484" "02329" "MAPT_000024" "g.44068924G>A" "" "" "" "MAPT(NM_001123066.4):c.1479G>A (p.P493=), MAPT(NM_005910.5):c.528G>A (p.P176=), MAPT(NM_005910.6):c.528G>A (p.P176=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45991558G>A" "" "benign" "" "0000283628" "0" "10" "17" "44071294" "44071294" "subst" "0.144302" "02329" "MAPT_000026" "g.44071294T>C" "" "" "" "MAPT(NM_001123066.3):c.1512T>C (p.T504=), MAPT(NM_001123066.4):c.1512T>C (p.T504=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45993928T>C" "" "benign" "" "0000283629" "0" "10" "17" "44073973" "44073973" "subst" "0.144884" "02329" "MAPT_000030" "g.44073973T>C" "" "" "" "MAPT(NM_001123066.4):c.1770T>C (p.N590=), MAPT(NM_001377265.1):c.1941T>C (p.N647=), MAPT(NM_005910.5):c.765T>C (p.N255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45996607T>C" "" "benign" "" "0000283630" "0" "10" "17" "44074018" "44074018" "subst" "0.0353225" "02329" "MAPT_000032" "g.44074018G>A" "" "" "" "MAPT(NM_001123066.3):c.1815G>A (p.P605=), MAPT(NM_001123066.4):c.1815G>A (p.P605=), MAPT(NM_005910.5):c.810G>A (p.P270=), MAPT(NM_005910.6):c.810G>..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45996652G>A" "" "benign" "" "0000283631" "0" "90" "17" "44091637" "44091637" "subst" "0" "02329" "MAPT_000067" "g.44091637T>G" "" "" "" "MAPT(NM_001123066.4):c.1949T>G (p.L650R), MAPT(NM_005910.5):c.944T>G (p.L315R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46014271T>G" "" "pathogenic" "" "0000283632" "0" "90" "17" "44096041" "44096041" "subst" "0" "02329" "MAPT_000076" "g.44096041C>T" "" "" "" "MAPT(NM_001123066.4):c.2060C>T (p.S687L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46018675C>T" "" "pathogenic" "" "0000283633" "0" "10" "17" "44049329" "44049329" "subst" "0.145346" "02329" "MAPT_000087" "g.44049329C>T" "" "" "" "MAPT(NM_001123066.4):c.220+18C>T, MAPT(NM_001377265.1):c.220+18C>T, MAPT(NM_005910.5):c.220+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45971963C>T" "" "benign" "" "0000283634" "0" "10" "17" "44051743" "44051743" "subst" "0" "02329" "MAPT_000088" "g.44051743G>A" "" "" "" "MAPT(NM_001123066.3):c.221-8G>A, MAPT(NM_001123066.4):c.221-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45974377G>A" "" "benign" "" "0000283635" "0" "10" "17" "44060775" "44060775" "subst" "0.146093" "02329" "MAPT_000016" "g.44060775C>T" "" "" "" "MAPT(NM_001123066.4):c.605C>T (p.P202L), MAPT(NM_001377265.1):c.830C>T (p.P277L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45983409C>T" "" "benign" "" "0000283636" "0" "10" "17" "44061023" "44061023" "subst" "0.145442" "02329" "MAPT_000018" "g.44061023G>A" "" "" "" "MAPT(NM_001123066.4):c.853G>A (p.D285N), MAPT(NM_001377265.1):c.1078G>A (p.D360N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45983657G>A" "" "benign" "" "0000283637" "0" "10" "17" "44061025" "44061025" "subst" "0.128275" "02329" "MAPT_000019" "g.44061025C>T" "" "" "" "MAPT(NM_001123066.4):c.855C>T (p.D285=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45983659C>T" "" "benign" "" "0000283638" "0" "10" "17" "44061036" "44061036" "subst" "0.14545" "02329" "MAPT_000020" "g.44061036T>C" "" "" "" "MAPT(NM_001123066.4):c.866T>C (p.V289A), MAPT(NM_001377265.1):c.1091T>C (p.V364A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45983670T>C" "" "benign" "" "0000286116" "0" "30" "17" "44061317" "44061317" "subst" "0.00391976" "02326" "MAPT_000096" "g.44061317C>T" "" "" "" "MAPT(NM_001123066.3):c.1126+21C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45983951C>T" "" "likely benign" "" "0000286117" "0" "10" "17" "44067382" "44067382" "subst" "0.281648" "02326" "MAPT_000022" "g.44067382T>C" "" "" "" "MAPT(NM_001123066.3):c.1321T>C (p.Y441H), MAPT(NM_001123066.4):c.1321T>C (p.Y441H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45990016T>C" "" "benign" "" "0000286118" "0" "30" "17" "44046688" "44046688" "subst" "0" "02326" "MAPT_000086" "g.44046688T>C" "" "" "" "MAPT(NM_001123066.3):c.134-2537T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45969322T>C" "" "likely benign" "" "0000286119" "0" "10" "17" "44071294" "44071294" "subst" "0.144302" "02326" "MAPT_000026" "g.44071294T>C" "" "" "" "MAPT(NM_001123066.3):c.1512T>C (p.T504=), MAPT(NM_001123066.4):c.1512T>C (p.T504=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45993928T>C" "" "benign" "" "0000286120" "0" "30" "17" "44073734" "44073734" "subst" "0.00352417" "02326" "MAPT_000098" "g.44073734T>C" "" "" "" "MAPT(NM_001123066.3):c.1562-31T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45996368T>C" "" "likely benign" "" "0000286121" "0" "10" "17" "44074018" "44074018" "subst" "0.0353225" "02326" "MAPT_000032" "g.44074018G>A" "" "" "" "MAPT(NM_001123066.3):c.1815G>A (p.P605=), MAPT(NM_001123066.4):c.1815G>A (p.P605=), MAPT(NM_005910.5):c.810G>A (p.P270=), MAPT(NM_005910.6):c.810G>..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45996652G>A" "" "benign" "" "0000286122" "0" "30" "17" "44074071" "44074071" "subst" "0.00021405" "02326" "MAPT_000104" "g.44074071G>A" "" "" "" "MAPT(NM_001123066.3):c.1827+41G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45996705G>A" "" "likely benign" "" "0000286123" "0" "30" "17" "44060807" "44060807" "subst" "0.00333162" "02326" "MAPT_000092" "g.44060807G>A" "" "" "" "MAPT(NM_001123066.3):c.637G>A (p.G213R), MAPT(NM_001123066.4):c.637G>A (p.G213R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45983441G>A" "" "likely benign" "" "0000286124" "0" "30" "17" "44060841" "44060841" "subst" "0.00218944" "02326" "MAPT_000002" "g.44060841T>G" "" "" "" "MAPT(NM_001123066.3):c.671T>G (p.V224G), MAPT(NM_001123066.4):c.671T>G (p.V224G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45983475T>G" "" "likely benign" "" "0000286125" "0" "30" "17" "44060857" "44060857" "subst" "1.25149E-5" "02326" "MAPT_000094" "g.44060857C>A" "" "" "" "MAPT(NM_001123066.3):c.687C>A (p.P229=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45983491C>A" "" "likely benign" "" "0000286126" "0" "30" "17" "44087797" "44087797" "subst" "0.00208186" "02326" "MAPT_000036" "g.44087797G>A" "" "" "" "MAPT(NM_001123066.3):c.1920+29G>A, MAPT(NM_005910.5):c.915+29G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46010431G>A" "" "likely benign" "" "0000291480" "0" "10" "17" "44101563" "44101563" "subst" "0.146224" "01943" "MAPT_000109" "g.44101563T>C" "" "" "" "MAPT(NM_005910.5):c.*26T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46024197T>C" "" "benign" "" "0000291481" "0" "50" "17" "44101601" "44101601" "subst" "0" "01943" "MAPT_000110" "g.44101601G>A" "" "" "" "MAPT(NM_005910.5):c.*64G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46024235G>A" "" "VUS" "" "0000291482" "0" "50" "17" "44101605" "44101607" "del" "0" "01943" "MAPT_000111" "g.44101605_44101607del" "" "" "" "MAPT(NM_005910.5):c.*68_*70delAAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46024239_46024241del" "" "VUS" "" "0000291483" "0" "90" "17" "44101376" "44101376" "subst" "1.21949E-5" "01943" "MAPT_000080" "g.44101376G>A" "" "" "" "MAPT(NM_005910.5):c.1165G>A (p.G389R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46024010G>A" "" "pathogenic" "" "0000291484" "0" "10" "17" "44068924" "44068924" "subst" "0.14484" "01943" "MAPT_000024" "g.44068924G>A" "" "" "" "MAPT(NM_001123066.4):c.1479G>A (p.P493=), MAPT(NM_005910.5):c.528G>A (p.P176=), MAPT(NM_005910.6):c.528G>A (p.P176=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45991558G>A" "" "benign" "" "0000291485" "0" "50" "17" "44071319" "44071319" "subst" "6.40007E-5" "01943" "MAPT_000097" "g.44071319C>A" "" "" "" "MAPT(NM_001123066.3):c.1537C>A (p.P513T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45993953C>A" "" "VUS" "" "0000291486" "0" "30" "17" "44073955" "44073955" "subst" "0" "01943" "MAPT_000101" "g.44073955C>A" "" "" "" "MAPT(NM_001123066.3):c.1752C>A (p.P584=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45996589C>A" "" "likely benign" "" "0000291487" "0" "10" "17" "44073973" "44073973" "subst" "0.144884" "01943" "MAPT_000030" "g.44073973T>C" "" "" "" "MAPT(NM_001123066.4):c.1770T>C (p.N590=), MAPT(NM_001377265.1):c.1941T>C (p.N647=), MAPT(NM_005910.5):c.765T>C (p.N255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45996607T>C" "" "benign" "" "0000291488" "0" "10" "17" "44074018" "44074018" "subst" "0.0353225" "01943" "MAPT_000032" "g.44074018G>A" "" "" "" "MAPT(NM_001123066.3):c.1815G>A (p.P605=), MAPT(NM_001123066.4):c.1815G>A (p.P605=), MAPT(NM_005910.5):c.810G>A (p.P270=), MAPT(NM_005910.6):c.810G>..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45996652G>A" "" "benign" "" "0000291489" "0" "90" "17" "44091637" "44091637" "subst" "0" "01943" "MAPT_000067" "g.44091637T>G" "" "" "" "MAPT(NM_001123066.4):c.1949T>G (p.L650R), MAPT(NM_005910.5):c.944T>G (p.L315R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46014271T>G" "" "pathogenic" "" "0000291490" "0" "10" "17" "44049329" "44049329" "subst" "0.145346" "01943" "MAPT_000087" "g.44049329C>T" "" "" "" "MAPT(NM_001123066.4):c.220+18C>T, MAPT(NM_001377265.1):c.220+18C>T, MAPT(NM_005910.5):c.220+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45971963C>T" "" "benign" "" "0000291491" "0" "30" "17" "44051788" "44051788" "subst" "6.24995E-5" "01943" "MAPT_000089" "g.44051788C>G" "" "" "" "MAPT(NM_001123066.3):c.258C>G (p.G86=), MAPT(NM_005910.6):c.258C>G (p.G86=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45974422C>G" "" "likely benign" "" "0000291492" "0" "30" "17" "44051849" "44051849" "subst" "2.53403E-5" "01943" "MAPT_000091" "g.44051849C>G" "" "" "" "MAPT(NM_005910.5):c.307+12C>G, MAPT(NM_005910.6):c.307+12C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45974483C>G" "" "likely benign" "" "0000291493" "0" "10" "17" "44068928" "44068928" "subst" "0.00354792" "01943" "MAPT_000025" "g.44068928G>A" "" "" "" "MAPT(NM_005910.5):c.532G>A (p.A178T), MAPT(NM_005910.6):c.532G>A (p.A178T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45991562G>A" "" "benign" "" "0000291494" "0" "30" "17" "44073753" "44073753" "subst" "0.00010563" "01943" "MAPT_000100" "g.44073753C>T" "" "" "" "MAPT(NM_005910.5):c.557-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45996387C>T" "" "likely benign" "" "0000291495" "0" "10" "17" "44073739" "44073739" "subst" "0.144983" "01943" "MAPT_000099" "g.44073739G>A" "" "" "" "MAPT(NM_005910.5):c.557-26G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45996373G>A" "" "benign" "" "0000291496" "0" "30" "17" "44060834" "44060834" "subst" "0.000277462" "01943" "MAPT_000093" "g.44060834C>A" "" "" "" "MAPT(NM_001123066.3):c.664C>A (p.R222S), MAPT(NM_001123066.4):c.664C>A (p.R222S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45983468C>A" "" "likely benign" "" "0000291497" "0" "30" "17" "44060841" "44060841" "subst" "0.00218944" "01943" "MAPT_000002" "g.44060841T>G" "" "" "" "MAPT(NM_001123066.3):c.671T>G (p.V224G), MAPT(NM_001123066.4):c.671T>G (p.V224G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45983475T>G" "" "likely benign" "" "0000291498" "0" "30" "17" "44073970" "44073970" "subst" "8.58825E-5" "01943" "MAPT_000102" "g.44073970G>A" "" "" "" "MAPT(NM_005910.5):c.762G>A (p.K254=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45996604G>A" "" "likely benign" "" "0000291499" "0" "30" "17" "44073988" "44073988" "subst" "8.20271E-6" "01943" "MAPT_000103" "g.44073988C>T" "" "" "" "MAPT(NM_005910.5):c.780C>T (p.I260=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45996622C>T" "" "likely benign" "" "0000291500" "0" "90" "17" "44074023" "44074023" "subst" "0" "01943" "MAPT_000044" "g.44074023G>T" "" "" "" "MAPT(NM_005910.5):c.815G>T (p.G272V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45996657G>T" "" "pathogenic" "" "0000291501" "0" "30" "17" "44087711" "44087711" "subst" "1.5366E-5" "01943" "MAPT_000105" "g.44087711C>T" "" "" "" "MAPT(NM_005910.5):c.858C>T (p.N286=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46010345C>T" "" "likely benign" "" "0000291502" "0" "90" "17" "44087741" "44087741" "subst" "0" "01943" "MAPT_000052" "g.44087741T>C" "" "" "" "MAPT(NM_005910.5):c.888T>C (p.N296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46010375T>C" "" "pathogenic" "" "0000291503" "0" "90" "17" "44087754" "44087754" "subst" "0" "01943" "MAPT_000053" "g.44087754C>T" "" "" "" "MAPT(NM_005910.5):c.901C>T (p.P301S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46010388C>T" "" "pathogenic" "" "0000291504" "0" "90" "17" "44087755" "44087755" "subst" "0" "01943" "MAPT_000055" "g.44087755C>T" "" "" "" "MAPT(NM_005910.5):c.902C>T (p.P301L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46010389C>T" "" "pathogenic" "" "0000291505" "0" "90" "17" "44087784" "44087784" "subst" "0" "01943" "MAPT_000065" "g.44087784C>T" "" "" "" "MAPT(NM_005910.5):c.915+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46010418C>T" "" "pathogenic" "" "0000291506" "0" "10" "17" "44087796" "44087796" "subst" "0" "01943" "MAPT_000107" "g.44087796C>T" "" "" "" "MAPT(NM_005910.5):c.915+28C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46010430C>T" "" "benign" "" "0000291507" "0" "10" "17" "44087797" "44087797" "subst" "0.00208186" "01943" "MAPT_000036" "g.44087797G>A" "" "" "" "MAPT(NM_001123066.3):c.1920+29G>A, MAPT(NM_005910.5):c.915+29G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46010431G>A" "" "benign" "" "0000291508" "0" "90" "17" "44091652" "44091652" "subst" "0" "01943" "MAPT_000070" "g.44091652C>T" "" "" "" "MAPT(NM_005910.5):c.959C>T (p.S320F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46014286C>T" "" "pathogenic" "" "0000291509" "0" "10" "17" "44091724" "44091724" "subst" "0.144922" "01943" "MAPT_000108" "g.44091724G>A" "" "" "" "MAPT(NM_005910.5):c.997+34G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46014358G>A" "" "benign" "" "0000338107" "0" "10" "17" "44039691" "44039691" "subst" "0.144482" "02327" "MAPT_000084" "g.44039691A>G" "" "" "" "MAPT(NM_001123066.4):c.-13A>G, MAPT(NM_005910.5):c.-13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45962325A>G" "" "benign" "" "0000340088" "0" "10" "17" "44110532" "44110532" "subst" "0.14267" "02327" "KANSL1_000056" "g.44110532G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46033166G>A" "" "benign" "" "0000340089" "0" "10" "17" "44110541" "44110541" "subst" "0.142333" "02327" "KANSL1_000057" "g.44110541G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46033175G>A" "" "benign" "" "0000341497" "0" "10" "17" "44073889" "44073889" "subst" "0.144623" "02327" "MAPT_000028" "g.44073889A>G" "" "" "" "MAPT(NM_001123066.4):c.1686A>G (p.A562=), MAPT(NM_005910.5):c.681A>G (p.A227=), MAPT(NM_005910.6):c.681A>G (p.A227=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45996523A>G" "" "benign" "" "0000343798" "0" "10" "17" "44073973" "44073973" "subst" "0.144884" "02327" "MAPT_000030" "g.44073973T>C" "" "" "" "MAPT(NM_001123066.4):c.1770T>C (p.N590=), MAPT(NM_001377265.1):c.1941T>C (p.N647=), MAPT(NM_005910.5):c.765T>C (p.N255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45996607T>C" "" "benign" "" "0000344205" "0" "30" "17" "44110543" "44110543" "subst" "0" "02327" "KANSL1_000058" "g.44110543C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46033177C>T" "" "likely benign" "" "0000346553" "0" "10" "17" "44108906" "44108906" "subst" "0.144302" "02327" "KANSL1_000053" "g.44108906A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46031540A>G" "" "benign" "" "0000348476" "0" "10" "17" "44068924" "44068924" "subst" "0.14484" "02327" "MAPT_000024" "g.44068924G>A" "" "" "" "MAPT(NM_001123066.4):c.1479G>A (p.P493=), MAPT(NM_005910.5):c.528G>A (p.P176=), MAPT(NM_005910.6):c.528G>A (p.P176=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45991558G>A" "" "benign" "" "0000349019" "0" "10" "17" "44067400" "44067400" "subst" "0.145575" "02327" "MAPT_000023" "g.44067400T>C" "" "" "" "MAPT(NM_001123066.4):c.1339T>C (p.S447P), MAPT(NM_001377265.1):c.1564T>C (p.S522P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45990034T>C" "" "benign" "" "0000350101" "0" "10" "17" "44067382" "44067382" "subst" "0.281648" "02327" "MAPT_000022" "g.44067382T>C" "" "" "" "MAPT(NM_001123066.3):c.1321T>C (p.Y441H), MAPT(NM_001123066.4):c.1321T>C (p.Y441H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45990016T>C" "" "benign" "" "0000351205" "0" "10" "17" "44051846" "44051846" "subst" "0.145586" "02327" "MAPT_000112" "g.44051846A>G" "" "" "" "MAPT(NM_001123066.4):c.307+9A>G, MAPT(NM_005910.5):c.307+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45974480A>G" "" "benign" "" "0000351207" "0" "70" "17" "44110442" "44110442" "subst" "0" "02327" "KANSL1_000055" "g.44110442T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46033076T>C" "" "likely pathogenic" "" "0000447050" "0" "70" "17" "44087782" "44087782" "subst" "0" "01741" "MAPT_000114" "g.44087782C>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.46010416C>A" "" "likely pathogenic" "" "0000474691" "1" "95" "17" "44101376" "44101376" "subst" "1.21949E-5" "01805" "MAPT_000001" "g.44101376G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.46024010G>A" "" "pathogenic" "" "0000562011" "0" "30" "17" "44051743" "44051743" "subst" "0" "01943" "MAPT_000088" "g.44051743G>A" "" "" "" "MAPT(NM_001123066.3):c.221-8G>A, MAPT(NM_001123066.4):c.221-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45974377G>A" "" "likely benign" "" "0000562012" "0" "30" "17" "44051786" "44051786" "subst" "2.91803E-5" "01943" "MAPT_000040" "g.44051786G>A" "" "" "" "MAPT(NM_001123066.3):c.256G>A (p.G86S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45974420G>A" "" "likely benign" "" "0000562013" "0" "30" "17" "44051788" "44051788" "subst" "6.24995E-5" "02329" "MAPT_000089" "g.44051788C>G" "" "" "" "MAPT(NM_001123066.3):c.258C>G (p.G86=), MAPT(NM_005910.6):c.258C>G (p.G86=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45974422C>G" "" "likely benign" "" "0000562014" "0" "30" "17" "44051814" "44051814" "subst" "5.56131E-5" "02329" "MAPT_000090" "g.44051814C>T" "" "" "" "MAPT(NM_001123066.4):c.284C>T (p.T95M), MAPT(NM_005910.6):c.284C>T (p.T95M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45974448C>T" "" "likely benign" "" "0000562015" "0" "30" "17" "44051849" "44051849" "subst" "2.53403E-5" "02329" "MAPT_000091" "g.44051849C>G" "" "" "" "MAPT(NM_005910.5):c.307+12C>G, MAPT(NM_005910.6):c.307+12C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45974483C>G" "" "likely benign" "" "0000562016" "0" "50" "17" "44060588" "44060588" "subst" "0.000558551" "01943" "MAPT_000115" "g.44060588C>T" "" "" "" "MAPT(NM_001123066.3):c.418C>T (p.P140S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45983222C>T" "" "VUS" "" "0000562017" "0" "30" "17" "44060786" "44060786" "subst" "0" "01943" "MAPT_000116" "g.44060786G>A" "" "" "" "MAPT(NM_001123066.3):c.616G>A (p.A206T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45983420G>A" "" "likely benign" "" "0000562018" "0" "50" "17" "44060841" "44060841" "subst" "0.00218944" "02330" "MAPT_000002" "g.44060841T>G" "" "" "" "MAPT(NM_001123066.3):c.671T>G (p.V224G), MAPT(NM_001123066.4):c.671T>G (p.V224G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45983475T>G" "" "VUS" "" "0000562020" "0" "30" "17" "44060953" "44060953" "subst" "4.91791E-5" "01943" "MAPT_000117" "g.44060953G>A" "" "" "" "MAPT(NM_001123066.3):c.783G>A (p.A261=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45983587G>A" "" "likely benign" "" "0000562021" "0" "50" "17" "44060973" "44060973" "subst" "0" "01943" "MAPT_000118" "g.44060973C>G" "" "" "" "MAPT(NM_001123066.3):c.803C>G (p.P268R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45983607C>G" "" "VUS" "" "0000562022" "0" "10" "17" "44061123" "44061123" "subst" "0.0138822" "02330" "MAPT_000119" "g.44061123C>T" "" "" "" "MAPT(NM_001123066.4):c.953C>T (p.S318L), MAPT(NM_001377265.1):c.1178C>T (p.S393L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45983757C>T" "" "benign" "" "0000562023" "0" "30" "17" "44061123" "44061123" "subst" "0.0138822" "02329" "MAPT_000119" "g.44061123C>T" "" "" "" "MAPT(NM_001123066.4):c.953C>T (p.S318L), MAPT(NM_001377265.1):c.1178C>T (p.S393L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45983757C>T" "" "likely benign" "" "0000562024" "0" "30" "17" "44061185" "44061185" "subst" "0" "02326" "MAPT_000120" "g.44061185G>A" "" "" "" "MAPT(NM_001123066.3):c.1015G>A (p.G339S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45983819G>A" "" "likely benign" "" "0000562025" "0" "30" "17" "44061271" "44061271" "subst" "0.000231338" "01943" "MAPT_000095" "g.44061271C>T" "" "" "" "MAPT(NM_001123066.3):c.1101C>T (p.P367=), MAPT(NM_001123066.4):c.1101C>T (p.P367=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45983905C>T" "" "likely benign" "" "0000562026" "0" "10" "17" "44061278" "44061278" "subst" "0.146538" "02330" "MAPT_000021" "g.44061278C>T" "" "" "" "MAPT(NM_001123066.4):c.1108C>T (p.R370W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45983912C>T" "" "benign" "" "0000562027" "0" "10" "17" "44061278" "44061278" "subst" "0.146538" "02329" "MAPT_000021" "g.44061278C>T" "" "" "" "MAPT(NM_001123066.4):c.1108C>T (p.R370W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45983912C>T" "" "benign" "" "0000562028" "0" "30" "17" "44064413" "44064413" "subst" "0" "02329" "MAPT_000121" "g.44064413G>C" "" "" "" "MAPT(NM_005910.6):c.381G>C (p.M127I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45987047G>C" "" "likely benign" "" "0000562029" "0" "30" "17" "44064443" "44064443" "subst" "1.62439E-5" "01943" "MAPT_000122" "g.44064443C>T" "" "" "" "MAPT(NM_001123066.3):c.1164C>T (p.S388=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45987077C>T" "" "likely benign" "" "0000562030" "0" "30" "17" "44067279" "44067279" "subst" "8.12137E-6" "01943" "MAPT_000123" "g.44067279T>C" "" "" "" "MAPT(NM_001123066.3):c.1218T>C (p.N406=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45989913T>C" "" "likely benign" "" "0000562031" "0" "50" "17" "44067341" "44067341" "subst" "0.00160394" "01943" "MAPT_000124" "g.44067341C>T" "" "" "" "MAPT(NM_001123066.3):c.1280C>T (p.S427F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45989975C>T" "" "VUS" "" "0000562032" "0" "30" "17" "44067341" "44067341" "subst" "0.00160394" "02326" "MAPT_000124" "g.44067341C>T" "" "" "" "MAPT(NM_001123066.3):c.1280C>T (p.S427F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45989975C>T" "" "likely benign" "" "0000562033" "0" "30" "17" "44068850" "44068850" "subst" "0.00145065" "02330" "MAPT_000003" "g.44068850G>A" "" "" "" "MAPT(NM_001123066.3):c.1405G>A (p.A469T, p.(Ala469Thr)), MAPT(NM_001123066.4):c.1405G>A (p.A469T), MAPT(NM_005910.5):c.454G>A (p.A152T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45991484G>A" "" "likely benign" "" "0000562037" "0" "30" "17" "44074006" "44074006" "subst" "0.000599855" "01943" "MAPT_000031" "g.44074006G>A" "" "" "" "MAPT(NM_001123066.3):c.1803G>A (p.L601=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45996640G>A" "" "likely benign" "" "0000562038" "0" "90" "17" "44087739" "44087739" "subst" "0" "02329" "MAPT_000106" "g.44087739A>G" "" "" "" "MAPT(NM_005910.5):c.886A>G (p.N296D), MAPT(NM_005910.6):c.886A>G (p.N296D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46010373A>G" "" "pathogenic" "" "0000562039" "0" "50" "17" "44087760" "44087760" "subst" "0" "01943" "MAPT_000127" "g.44087760G>T" "" "" "" "MAPT(NM_005910.5):c.907G>T (p.G303C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46010394G>T" "" "VUS" "" "0000562040" "0" "30" "17" "44101348" "44101348" "subst" "2.84824E-5" "01943" "MAPT_000128" "g.44101348C>T" "" "" "" "MAPT(NM_005910.5):c.1137C>T (p.R379=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46023982C>T" "" "likely benign" "" "0000562041" "0" "90" "17" "44101427" "44101427" "subst" "1.62551E-5" "01943" "MAPT_000081" "g.44101427C>T" "" "" "" "MAPT(NM_005910.5):c.1216C>T (p.R406W), MAPT(NM_005910.6):c.1216C>T (p.R406W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46024061C>T" "" "pathogenic" "" "0000562042" "0" "30" "17" "44101431" "44101431" "subst" "0" "02329" "MAPT_000129" "g.44101431A>G" "" "" "" "MAPT(NM_005910.6):c.1220A>G (p.H407R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46024065A>G" "" "likely benign" "" "0000562043" "0" "30" "17" "44109450" "44109450" "subst" "0.000243793" "01804" "MAPT_000130" "g.44109450G>A" "" "" "" "KANSL1(NM_001193465.1):c.3050C>T (p.(Thr1017Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46032084G>A" "" "likely benign" "" "0000562045" "0" "90" "17" "44109506" "44109506" "del" "0" "01943" "MAPT_000132" "g.44109506del" "" "" "" "KANSL1(NM_001193466.1):c.2997delA (p.A1000Hfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46032140del" "" "pathogenic" "" "0000562046" "0" "90" "17" "44109566" "44109566" "dup" "0" "01943" "MAPT_000133" "g.44109566dup" "" "" "" "KANSL1(NM_001193466.1):c.2939dupT (p.L980Ffs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46032200dup" "" "pathogenic" "" "0000616640" "0" "30" "17" "44060834" "44060834" "subst" "0.000277462" "02325" "MAPT_000093" "g.44060834C>A" "" "" "" "MAPT(NM_001123066.3):c.664C>A (p.R222S), MAPT(NM_001123066.4):c.664C>A (p.R222S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45983468C>A" "" "likely benign" "" "0000616641" "0" "10" "17" "44068928" "44068928" "subst" "0.00354792" "02329" "MAPT_000025" "g.44068928G>A" "" "" "" "MAPT(NM_005910.5):c.532G>A (p.A178T), MAPT(NM_005910.6):c.532G>A (p.A178T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45991562G>A" "" "benign" "" "0000616642" "0" "30" "17" "44073862" "44073862" "subst" "0" "01943" "MAPT_000135" "g.44073862A>C" "" "" "" "MAPT(NM_001123066.3):c.1659A>C (p.P553=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45996496A>C" "" "likely benign" "" "0000616643" "0" "30" "17" "44073866" "44073866" "subst" "0" "01943" "MAPT_000125" "g.44073866A>C" "" "" "" "MAPT(NM_001123066.3):c.1663A>C (p.T555P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45996500A>C" "" "likely benign" "" "0000616644" "0" "30" "17" "44101354" "44101354" "subst" "1.62705E-5" "01943" "MAPT_000136" "g.44101354C>T" "" "" "" "MAPT(NM_001123066.3):c.2148C>T (p.N716=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46023988C>T" "" "likely benign" "" "0000623702" "0" "30" "17" "44068968" "44068968" "subst" "0" "02329" "MAPT_000134" "g.44068968T>C" "" "" "" "MAPT(NM_005910.6):c.556+16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45991602T>C" "" "likely benign" "" "0000649620" "1" "10" "17" "44060859" "44060859" "subst" "0.0397938" "03575" "MAPT_000017" "g.44060859A>G" "164/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "164 heterozygous; {DB:CLININrs63750072}" "Germline" "" "rs63750072" "0" "" "" "g.45983493A>G" "" "benign" "" "0000649621" "1" "50" "17" "44067341" "44067341" "subst" "0.00160394" "03575" "MAPT_000124" "g.44067341C>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; {DB:CLININrs143956882}" "Germline" "" "rs143956882" "0" "" "" "g.45989975C>T" "" "VUS" "" "0000649622" "1" "30" "17" "44103704" "44103704" "subst" "0" "03575" "MAPT_000137" "g.44103704G>A" "6/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 heterozygous, no homozygous; {DB:CLININrs16940802}" "Germline" "" "rs16940802" "0" "" "" "g.46026338G>A" "" "likely benign" "" "0000658161" "0" "30" "17" "44061060" "44061060" "subst" "4.87563E-5" "01943" "MAPT_000138" "g.44061060C>T" "" "" "" "MAPT(NM_001123066.3):c.890C>T (p.A297V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45983694C>T" "" "likely benign" "" "0000669403" "3" "10" "17" "44060859" "44060859" "subst" "0.0397938" "03575" "MAPT_000017" "g.44060859A>G" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs63750072}" "Germline" "" "rs63750072" "0" "" "" "g.45983493A>G" "" "benign" "" "0000680904" "0" "50" "17" "44055752" "44055752" "subst" "1.21836E-5" "01943" "MAPT_000139" "g.44055752G>A" "" "" "" "MAPT(NM_001123066.3):c.319G>A (p.G107S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692378" "0" "30" "17" "44109073" "44109073" "subst" "0" "02325" "MAPT_000140" "g.44109073T>C" "" "" "" "KANSL1(NM_001193466.2):c.3091-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726463" "0" "30" "17" "44073796" "44073796" "subst" "1.25649E-5" "02329" "MAPT_000141" "g.44073796C>G" "" "" "" "MAPT(NM_005910.6):c.588C>G (p.G196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726464" "0" "30" "17" "44073923" "44073923" "subst" "0.000631323" "01943" "MAPT_000007" "g.44073923G>A" "" "" "" "MAPT(NM_001123066.3):c.1720G>A (p.A574T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726465" "0" "30" "17" "44096111" "44096111" "subst" "0" "02329" "MAPT_000142" "g.44096111G>T" "" "" "" "MAPT(NM_005910.6):c.1110+15G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726466" "0" "90" "17" "44109472" "44109472" "subst" "0" "02329" "MAPT_000131" "g.44109472G>A" "" "" "" "KANSL1(NM_001193466.2):c.3031C>T (p.R1011*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000787514" "0" "50" "17" "44061089" "44061089" "subst" "0" "00000" "MAPT_000143" "g.44061089A>G" "" "0" "" "" "" "Germline" "" "" "0" "" "" "g.45983723A>G" "" "VUS" "" "0000808050" "0" "50" "17" "44039758" "44039758" "subst" "0" "01943" "MAPT_000144" "g.44039758G>T" "" "" "" "MAPT(NM_001123066.3):c.55G>T (p.G19W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808051" "0" "30" "17" "44060605" "44060605" "subst" "1.33674E-5" "01943" "MAPT_000145" "g.44060605G>C" "" "" "" "MAPT(NM_001123066.3):c.435G>C (p.L145=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808052" "0" "30" "17" "44071317" "44071317" "subst" "0" "01943" "MAPT_000146" "g.44071317C>A" "" "" "" "MAPT(NM_001123066.3):c.1535C>A (p.P512H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808053" "0" "30" "17" "44108991" "44108991" "subst" "0" "02327" "MAPT_000147" "g.44108991G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854964" "0" "30" "17" "44060574" "44060574" "subst" "0" "01943" "MAPT_000148" "g.44060574G>T" "" "" "" "MAPT(NM_001123066.3):c.404G>T (p.G135V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854965" "0" "50" "17" "44060672" "44060672" "subst" "6.08113E-5" "02325" "MAPT_000150" "g.44060672C>T" "" "" "" "MAPT(NM_005910.6):c.374-3734C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854966" "0" "90" "17" "44101427" "44101427" "subst" "1.62551E-5" "02329" "MAPT_000081" "g.44101427C>T" "" "" "" "MAPT(NM_005910.5):c.1216C>T (p.R406W), MAPT(NM_005910.6):c.1216C>T (p.R406W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000865328" "0" "90" "17" "44060598" "44060598" "dup" "0" "01943" "MAPT_000149" "g.44060598dup" "" "" "" "MAPT(NM_001123066.3):c.428dupC (p.G144Rfs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000865329" "0" "50" "17" "44110564" "44110564" "subst" "0" "01943" "MAPT_000151" "g.44110564A>G" "" "" "" "KANSL1(NM_001193466.1):c.2725-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893982" "0" "30" "17" "44068850" "44068850" "subst" "0.00145065" "02326" "MAPT_000003" "g.44068850G>A" "" "" "" "MAPT(NM_001123066.3):c.1405G>A (p.A469T, p.(Ala469Thr)), MAPT(NM_001123066.4):c.1405G>A (p.A469T), MAPT(NM_005910.5):c.454G>A (p.A152T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893983" "0" "50" "17" "44108993" "44108993" "subst" "0" "02325" "MAPT_000152" "g.44108993G>A" "" "" "" "KANSL1(NM_001193466.2):c.3167C>T (p.A1056V), KANSL1(NM_015443.4):c.3167C>T (p.(Ala1056Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893984" "0" "50" "17" "44109050" "44109050" "subst" "1.2464E-5" "02325" "MAPT_000153" "g.44109050C>T" "" "" "" "KANSL1(NM_001193466.2):c.3110G>A (p.R1037Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914870" "0" "10" "17" "44060492" "44060492" "subst" "0" "02329" "MAPT_000154" "g.44060492G>A" "" "" "" "MAPT(NM_001377265.1):c.547G>A (p.E183K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000952603" "10" "90" "17" "44049254" "44049254" "subst" "4.06177E-6" "04610" "MAPT_000155" "g.44049254G>A" "" "{PMID:Iyer 2013:24086739}, {DOI:Iyer 2013:10.1371/journal.pone.0076409}" "" "G55R" "variant was functionally studied by in vitro analysis" "Germline" "" "" "0" "" "" "g.45971888G>A" "" "pathogenic (dominant)" "" "0000955370" "0" "90" "17" "44087706" "44087706" "subst" "0" "04610" "MAPT_000156" "g.44087706A>C" "" "{PMID:Ogaki 2012:22818528}, {DOI:Ogaki 2012:10.1016/j.parkreldis.2012.06.019}" "" "c.853A>C p.S285R" "" "De novo" "" "" "0" "" "" "g.46010340A>C" "" "pathogenic" "" "0000955378" "0" "90" "17" "44087690" "44087690" "subst" "0" "04610" "MAPT_000047" "g.44087690T>G" "" "{PMID:Ogaki 2012:22818528}, {DOI:Ogaki 2012:10.1016/j.parkreldis.2012.06.019}" "" "837T>G (N279K)" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.46010324T>G" "" "pathogenic" "" "0000955412" "0" "90" "17" "44087690" "44087690" "subst" "0" "04610" "MAPT_000047" "g.44087690T>G" "" "{PMID:Ogaki 2012:22818528}, {DOI:Ogaki 2012:10.1016/j.parkreldis.2012.06.019}" "" "837T>G (N279K)" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.46010324T>G" "" "pathogenic" "" "0000955413" "0" "70" "17" "44091644" "44091644" "subst" "0" "04610" "MAPT_000157" "g.44091644G>C" "" "{PMID:Tacik 2015:25900293}, {DOI:Tacik 2015:10.1007/s00401-015-1425-0}" "" "951G>C (K317N)" "" "Germline/De novo (untested)" "" "rs1052553" "0" "" "" "g.46014278G>C" "" "likely pathogenic" "" "0000955419" "0" "90" "17" "44087745" "44087745" "subst" "0" "04610" "MAPT_000010" "g.44087745A>G" "" "{PMID:Iovino 2014:24292008}, {DOI:Iovino 2014:10.1007/s00401-013-1219-1}" "" "892A>G p.K298E" "" "Germline" "" "" "0" "" "" "g.46010379A>G" "" "likely pathogenic" "" "0000968980" "0" "50" "17" "44068850" "44068850" "subst" "0.00145065" "01943" "MAPT_000003" "g.44068850G>A" "" "" "" "MAPT(NM_001123066.3):c.1405G>A (p.A469T, p.(Ala469Thr)), MAPT(NM_001123066.4):c.1405G>A (p.A469T), MAPT(NM_005910.5):c.454G>A (p.A152T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982560" "0" "50" "17" "44096097" "44096097" "subst" "0" "01804" "MAPT_000158" "g.44096097G>T" "" "" "" "MAPT(NM_001377265.1):c.2286+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982561" "0" "50" "17" "44108993" "44108993" "subst" "0" "01804" "MAPT_000152" "g.44108993G>A" "" "" "" "KANSL1(NM_001193466.2):c.3167C>T (p.A1056V), KANSL1(NM_015443.4):c.3167C>T (p.(Ala1056Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982562" "0" "30" "17" "44109642" "44109642" "subst" "1.70238E-5" "01804" "MAPT_000159" "g.44109642C>T" "" "" "" "KANSL1(NM_015443.3):c.2861G>A (p.(Arg954Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003337" "0" "30" "17" "44068850" "44068850" "subst" "0.00145065" "01804" "MAPT_000003" "g.44068850G>A" "" "" "" "MAPT(NM_001123066.3):c.1405G>A (p.A469T, p.(Ala469Thr)), MAPT(NM_001123066.4):c.1405G>A (p.A469T), MAPT(NM_005910.5):c.454G>A (p.A152T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003338" "0" "10" "17" "44073923" "44073923" "subst" "0.000631323" "02326" "MAPT_000007" "g.44073923G>A" "" "" "" "MAPT(NM_001123066.3):c.1720G>A (p.A574T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001003339" "0" "30" "17" "44109619" "44109619" "subst" "0" "01804" "MAPT_000160" "g.44109619C>T" "" "" "" "KANSL1(NM_015443.3):c.2884G>A (p.(Ala962Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046645" "0" "50" "17" "44071319" "44071319" "subst" "6.40007E-5" "02326" "MAPT_000097" "g.44071319C>A" "" "" "" "MAPT(NM_001123066.3):c.1537C>A (p.P513T)" "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 MAPT ## Count = 515 "{{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}}" "0000087448" "00011803" "50" "176" "0" "176" "0" "c.176C>T" "r.(?)" "p.(Pro59Leu)" "" "0000087449" "00011803" "50" "671" "0" "671" "0" "c.671T>G" "r.(?)" "p.(Val224Gly)" "" "0000087451" "00011803" "50" "1405" "0" "1405" "0" "c.1405G>A" "r.(?)" "p.(Ala469Thr)" "" "0000087452" "00011803" "50" "1421" "0" "1421" "0" "c.1421C>A" "r.(?)" "p.(Ala474Glu)" "" "0000087453" "00011803" "50" "1532" "0" "1532" "0" "c.1532G>A" "r.(?)" "p.(Arg511His)" "" "0000087454" "00011803" "50" "1603" "0" "1603" "0" "c.1603C>A" "r.(?)" "p.(Pro535Thr)" "" "0000087455" "00011803" "50" "1666" "0" "1666" "0" "c.1666G>A" "r.(?)" "p.(Ala556Thr)" "" "0000087456" "00011803" "50" "1861" "0" "1861" "0" "c.1861G>A" "r.(?)" "p.(Gly621Ser)" "" "0000222874" "00011803" "90" "1843" "0" "1843" "0" "c.1843A>G" "r.1774_1866del" "p.Ile595_Ile625del" "10" "0000243209" "00025253" "99" "14" "0" "14" "0" "c.14G>A" "r.(?)" "p.(Arg5His)" "2" "0000243210" "00025253" "99" "14" "0" "14" "0" "c.14G>T" "r.(?)" "p.(Arg5Leu)" "2" "0000243211" "00025253" "99" "1775" "0" "1775" "0" "c.1775A>C" "r.(?)" "p.(Lys592Thr)" "11" "0000243212" "00025253" "99" "1775" "0" "1775" "0" "c.1775A>C" "r.(?)" "p.(Lys592Thr)" "11" "0000243213" "00025253" "99" "1783" "0" "1783" "0" "c.1783A>G" "r.(?)" "p.(Ile595Val)" "11" "0000243214" "00025253" "99" "1801" "0" "1801" "0" "c.1801C>G" "r.(?)" "p.(Leu601Val)" "11" "0000243215" "00025253" "99" "1801" "0" "1801" "0" "c.1801C>G" "r.(?)" "p.(Leu601Val)" "11" "0000243216" "00025253" "99" "1820" "0" "1820" "0" "c.1820G>T" "r.(?)" "p.(Gly607Val)" "11" "0000243217" "00025253" "99" "1842" "0" "1842" "0" "c.1842T>G" "r.(?)" "p.(Asn614Lys)" "12" "0000243218" "00025253" "99" "1842" "0" "1842" "0" "c.1842T>G" "r.(?)" "p.(Asn614Lys)" "12" "0000243219" "00025253" "99" "1842" "0" "1842" "0" "c.1842T>G" "r.(?)" "p.(Asn614Lys)" "12" "0000243220" "00025253" "99" "1842" "0" "1842" "0" "c.1842T>G" "r.(?)" "p.(Asn614Lys)" "12" "0000243221" "00025253" "99" "1842" "0" "1842" "0" "c.1842T>G" "r.(?)" "p.(Asn614Lys)" "12" "0000243222" "00025253" "99" "1842" "0" "1842" "0" "c.1842T>G" "r.(?)" "p.(Asn614Lys)" "12" "0000243223" "00025253" "99" "1842" "0" "1842" "0" "c.1842T>G" "r.(?)" "p.(Asn614Lys)" "12" "0000243224" "00025253" "55" "1846" "0" "1848" "0" "c.1846_1848del" "r.(?)" "p.(Lys616del)" "12" "0000243225" "00025253" "55" "1846" "0" "1848" "0" "c.1846_1848del" "r.(?)" "p.(Lys616del)" "12" "0000243226" "00025253" "99" "1857" "0" "1857" "0" "c.1857T>C" "r.(?)" "p.(=)" "12" "0000243227" "00025253" "99" "1893" "0" "1893" "0" "c.1893T>C" "r.(?)" "p.(=)" "12" "0000243228" "00025253" "99" "1891" "0" "1891" "0" "c.1891A>C" "r.(?)" "p.(Asn631His)" "12" "0000243229" "00025253" "99" "1892" "0" "1894" "0" "c.1892_1894del" "r.(?)" "p.(Asn631del)" "12" "0000243230" "00025253" "99" "1892" "0" "1894" "0" "c.1892_1894del" "r.(?)" "p.(Asn631del)" "12" "0000243231" "00025253" "99" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Pro636Ser)" "12" "0000243232" "00025253" "99" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Pro636Ser)" "12" "0000243233" "00025253" "99" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Pro636Ser)" "12" "0000243234" "00025253" "99" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Pro636Ser)" "12" "0000243235" "00025253" "99" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Pro636Ser)" "12" "0000243236" "00025253" "99" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Pro636Ser)" "12" "0000243237" "00025253" "99" "1920" "0" "1920" "0" "c.1920T>C" "r.(?)" "p.(=)" "12" "0000243238" "00025253" "99" "1920" "0" "1920" "0" "c.1920T>C" "r.(?)" "p.(=)" "12" "0000243239" "00025253" "99" "1920" "0" "1920" "0" "c.1920T>C" "r.(?)" "p.(=)" "12" "0000243240" "00025253" "99" "1919" "0" "1919" "0" "c.1919G>A" "r.(?)" "p.(Ser640Asn)" "12" "0000243241" "00025253" "99" "1919" "0" "1919" "0" "c.1919G>A" "r.(?)" "p.(Ser640Asn)" "12" "0000243242" "00025253" "99" "1919" "0" "1919" "0" "c.1919G>A" "r.(?)" "p.(Ser640Asn)" "12" "0000243243" "00025253" "99" "1949" "0" "1949" "0" "c.1949T>G" "r.(?)" "p.(Leu650Arg)" "13" "0000243244" "00025253" "99" "1949" "0" "1949" "0" "c.1949T>G" "r.(?)" "p.(Leu650Arg)" "13" "0000243245" "00025253" "99" "1964" "0" "1964" "0" "c.1964C>T" "r.(?)" "p.(Ser655Phe)" "13" "0000243246" "00025253" "99" "2014" "0" "2014" "0" "c.2014G>A" "r.(?)" "p.(Val672Met)" "14" "0000243247" "00025253" "99" "2030" "0" "2030" "0" "c.2030A>T" "r.(?)" "p.(Glu677Val)" "14" "0000243248" "00025253" "99" "2060" "0" "2060" "0" "c.2060C>T" "r.(?)" "p.(Ser687Leu)" "14" "0000243249" "00025253" "99" "2111" "0" "2111" "0" "c.2111A>T" "r.(?)" "p.(Lys704Ile)" "14" "0000243250" "00025253" "99" "2170" "0" "2170" "0" "c.2170G>C" "r.(?)" "p.(Gly724Arg)" "15" "0000243251" "00025253" "99" "2170" "0" "2170" "0" "c.2170G>C" "r.(?)" "p.(Gly724Arg)" "15" "0000243252" "00025253" "99" "2170" "0" "2170" "0" "c.2170G>A" "r.(?)" "p.(Gly724Arg)" "15" "0000243253" "00025253" "99" "2170" "0" "2170" "0" "c.2170G>A" "r.(?)" "p.(Gly724Arg)" "15" "0000243254" "00025253" "99" "2221" "0" "2221" "0" "c.2221C>T" "r.(?)" "p.(Arg741Trp)" "15" "0000243255" "00025253" "99" "2221" "0" "2221" "0" "c.2221C>T" "r.(?)" "p.(Arg741Trp)" "15" "0000243256" "00025253" "99" "2221" "0" "2221" "0" "c.2221C>T" "r.(?)" "p.(Arg741Trp)" "15" "0000243257" "00025253" "99" "2221" "0" "2221" "0" "c.2221C>T" "r.(?)" "p.(Arg741Trp)" "15" "0000243258" "00025253" "99" "2221" "0" "2221" "0" "c.2221C>T" "r.(?)" "p.(Arg741Trp)" "15" "0000243259" "00025253" "99" "2221" "0" "2221" "0" "c.2221C>T" "r.(?)" "p.(Arg741Trp)" "15" "0000243260" "00025253" "99" "2221" "0" "2221" "0" "c.2221C>T" "r.(?)" "p.(Arg741Trp)" "15" "0000243261" "00025253" "99" "2221" "0" "2221" "0" "c.2221C>T" "r.(?)" "p.(Arg741Trp)" "15" "0000243262" "00025253" "99" "2221" "0" "2221" "0" "c.2221C>T" "r.(?)" "p.(Arg741Trp)" "15" "0000243263" "00025253" "99" "1907" "0" "1907" "0" "c.1907C>T" "r.(?)" "p.(Pro636Leu)" "12" "0000243264" "00025253" "99" "1907" "0" "1907" "0" "c.1907C>T" "r.(?)" "p.(Pro636Leu)" "12" "0000243265" "00025253" "99" "1907" "0" "1907" "0" "c.1907C>T" "r.(?)" "p.(Pro636Leu)" "12" "0000243266" "00025253" "99" "1907" "0" "1907" "0" "c.1907C>T" "r.(?)" "p.(Pro636Leu)" "12" "0000243267" "00025253" "99" "1907" "0" "1907" "0" "c.1907C>T" "r.(?)" "p.(Pro636Leu)" "12" "0000243268" "00025253" "99" "1907" "0" "1907" "0" "c.1907C>T" "r.(?)" "p.(Pro636Leu)" "12" "0000243269" "00025253" "99" "1907" "0" "1907" "0" "c.1907C>T" "r.(?)" "p.(Pro636Leu)" "12" "0000243270" "00025253" "99" "1907" "0" "1907" "0" "c.1907C>T" "r.(?)" "p.(Pro636Leu)" "12" "0000243271" "00025253" "99" "1907" "0" "1907" "0" "c.1907C>T" "r.(?)" "p.(Pro636Leu)" "12" "0000243272" "00025253" "99" "1907" "0" "1907" "0" "c.1907C>T" "r.(?)" "p.(Pro636Leu)" "12" "0000243273" "00025253" "99" "1907" "0" "1907" "0" "c.1907C>T" "r.(?)" "p.(Pro636Leu)" "12" "0000243274" "00025253" "99" "1907" "0" "1907" "0" "c.1907C>T" "r.(?)" "p.(Pro636Leu)" "12" "0000243275" "00025253" "99" "1907" "0" "1907" "0" "c.1907C>T" "r.(?)" "p.(Pro636Leu)" "12" "0000243276" "00025253" "99" "1907" "0" "1907" "0" "c.1907C>T" "r.(?)" "p.(Pro636Leu)" "12" "0000243277" "00025253" "99" "1907" "0" "1907" "0" "c.1907C>T" "r.(?)" "p.(Pro636Leu)" "12" "0000243278" "00025253" "99" "1907" "0" "1907" "0" "c.1907C>T" "r.(?)" "p.(Pro636Leu)" "12" "0000243279" "00025253" "99" "1907" "0" "1907" "0" "c.1907C>T" "r.(?)" "p.(Pro636Leu)" "12" "0000243280" "00025253" "99" "1907" "0" "1907" "0" "c.1907C>T" "r.(?)" "p.(Pro636Leu)" "12" "0000243281" "00025253" "99" "1907" "0" "1907" "0" "c.1907C>T" "r.(?)" "p.(Pro636Leu)" "12" "0000243282" "00025253" "99" "1907" "0" "1907" "0" "c.1907C>T" "r.(?)" "p.(Pro636Leu)" "12" "0000243283" "00025253" "99" "1907" "0" "1907" "0" "c.1907C>T" "r.(?)" "p.(Pro636Leu)" "12" "0000243284" "00025253" "99" "1907" "0" "1907" "0" "c.1907C>T" "r.(?)" "p.(Pro636Leu)" "12" "0000243285" "00025253" "99" "1907" "0" "1907" "0" "c.1907C>T" "r.(?)" "p.(Pro636Leu)" "12" "0000243286" "00025253" "99" "1907" "0" "1907" "0" "c.1907C>T" "r.(?)" "p.(Pro636Leu)" "12" "0000243287" "00025253" "99" "1907" "0" "1907" "0" "c.1907C>T" "r.(?)" "p.(Pro636Leu)" "12" "0000243288" "00025253" "99" "1907" "0" "1907" "0" "c.1907C>T" "r.(?)" "p.(Pro636Leu)" "12" "0000243289" "00025253" "99" "1907" "0" "1907" "0" "c.1907C>T" "r.(?)" "p.(Pro636Leu)" "12" "0000243290" "00025253" "99" "1907" "0" "1907" "0" "c.1907C>T" "r.(?)" "p.(Pro636Leu)" "12" "0000243291" "00025253" "99" "1907" "0" "1907" "0" "c.1907C>T" "r.(?)" "p.(Pro636Leu)" "12" "0000243292" "00025253" "99" "1907" "0" "1907" "0" "c.1907C>T" "r.(?)" "p.(Pro636Leu)" "12" "0000243293" "00025253" "99" "1907" "0" "1907" "0" "c.1907C>T" "r.(?)" "p.(Pro636Leu)" "12" "0000243294" "00025253" "99" "1907" "0" "1907" "0" "c.1907C>T" "r.(?)" "p.(Pro636Leu)" "12" "0000243295" "00025253" "99" "1920" "3" "1920" "3" "c.1920+3G>A" "r.(?)" "p.(=)" "12i" "0000243296" "00025253" "99" "1920" "3" "1920" "3" "c.1920+3G>A" "r.(?)" "p.(=)" "12i" "0000243297" "00025253" "99" "1920" "3" "1920" "3" "c.1920+3G>A" "r.(?)" "p.(=)" "12i" "0000243298" "00025253" "99" "1920" "11" "1920" "11" "c.1920+11T>C" "r.(?)" "p.(=)" "12i" "0000243299" "00025253" "99" "1920" "12" "1920" "12" "c.1920+12C>T" "r.(?)" "p.(=)" "12i" "0000243300" "00025253" "99" "1920" "13" "1920" "13" "c.1920+13A>G" "r.(?)" "p.(=)" "12i" "0000243301" "00025253" "99" "1920" "14" "1920" "14" "c.1920+14C>T" "r.(?)" "p.(=)" "12i" "0000243302" "00025253" "99" "1920" "14" "1920" "14" "c.1920+14C>T" "r.(?)" "p.(=)" "12i" "0000243303" "00025253" "99" "1920" "16" "1920" "16" "c.1920+16C>T" "r.(?)" "p.(=)" "12i" "0000243304" "00025253" "99" "1920" "16" "1920" "16" "c.1920+16C>T" "r.(?)" "p.(=)" "12i" "0000243305" "00025253" "99" "1920" "16" "1920" "16" "c.1920+16C>T" "r.(?)" "p.(=)" "12i" "0000243306" "00025253" "99" "1920" "16" "1920" "16" "c.1920+16C>T" "r.(?)" "p.(=)" "12i" "0000243307" "00025253" "99" "1920" "16" "1920" "16" "c.1920+16C>T" "r.(?)" "p.(=)" "12i" "0000243308" "00025253" "99" "1920" "16" "1920" "16" "c.1920+16C>T" "r.(?)" "p.(=)" "12i" "0000243309" "00025253" "99" "1920" "16" "1920" "16" "c.1920+16C>T" "r.(?)" "p.(=)" "12i" "0000243310" "00025253" "99" "1920" "16" "1920" "16" "c.1920+16C>T" "r.(?)" "p.(=)" "12i" "0000243311" "00025253" "99" "1920" "16" "1920" "16" "c.1920+16C>T" "r.(?)" "p.(=)" "12i" "0000243312" "00025253" "99" "1920" "16" "1920" "16" "c.1920+16C>T" "r.(?)" "p.(=)" "12i" "0000243313" "00025253" "99" "1920" "16" "1920" "16" "c.1920+16C>T" "r.(?)" "p.(=)" "12i" "0000243314" "00025253" "99" "1920" "16" "1920" "16" "c.1920+16C>T" "r.(?)" "p.(=)" "12i" "0000243315" "00025253" "99" "1920" "16" "1920" "16" "c.1920+16C>T" "r.(?)" "p.(=)" "12i" "0000243316" "00025253" "99" "1920" "16" "1920" "16" "c.1920+16C>T" "r.(?)" "p.(=)" "12i" "0000243317" "00025253" "99" "1920" "16" "1920" "16" "c.1920+16C>T" "r.(?)" "p.(=)" "12i" "0000243318" "00025253" "99" "1920" "16" "1920" "16" "c.1920+16C>T" "r.(?)" "p.(=)" "12i" "0000243319" "00025253" "99" "1920" "16" "1920" "16" "c.1920+16C>T" "r.(?)" "p.(=)" "12i" "0000243320" "00025253" "99" "1920" "16" "1920" "16" "c.1920+16C>T" "r.(?)" "p.(=)" "12i" "0000243321" "00025253" "99" "1920" "16" "1920" "16" "c.1920+16C>T" "r.(?)" "p.(=)" "12i" "0000243322" "00025253" "99" "1920" "16" "1920" "16" "c.1920+16C>T" "r.(?)" "p.(=)" "12i" "0000243323" "00025253" "99" "1920" "16" "1920" "16" "c.1920+16C>T" "r.(?)" "p.(=)" "12i" "0000243324" "00025253" "99" "1920" "16" "1920" "16" "c.1920+16C>T" "r.(?)" "p.(=)" "12i" "0000243325" "00025253" "99" "1920" "16" "1920" "16" "c.1920+16C>T" "r.(?)" "p.(=)" "12i" "0000243326" "00025253" "99" "1920" "16" "1920" "16" "c.1920+16C>T" "r.(?)" "p.(=)" "12i" "0000243327" "00025253" "99" "1920" "16" "1920" "16" "c.1920+16C>T" "r.(?)" "p.(=)" "12i" "0000243328" "00025253" "99" "1920" "16" "1920" "16" "c.1920+16C>T" "r.(?)" "p.(=)" "12i" "0000243329" "00025253" "99" "1920" "16" "1920" "16" "c.1920+16C>T" "r.(?)" "p.(=)" "12i" "0000243330" "00025253" "99" "1920" "19" "1920" "19" "c.1920+19C>G" "r.(?)" "p.(=)" "12i" "0000243331" "00025253" "99" "2012" "0" "2012" "0" "c.2012A>G" "r.(?)" "p.(Gln671Arg)" "14" "0000243341" "00025253" "99" "1955" "0" "1955" "0" "c.1955A>T" "r.(?)" "p.(Lys652Met)" "13" "0000243342" "00025253" "99" "2285" "0" "2285" "0" "c.2285C>T" "r.(?)" "p.(Thr762Met)" "15" "0000243343" "00025253" "11" "256" "0" "256" "0" "c.256G>A" "r.(?)" "p.(Gly86Ser)" "4" "0000243354" "00025253" "99" "1950" "0" "1950" "0" "c.1950G>A" "r.(?)" "p.(=)" "13" "0000243358" "00025253" "99" "2009" "0" "2009" "0" "c.2009G>T" "r.(?)" "p.(Gly670Val)" "14" "0000243359" "00025253" "99" "1913" "0" "1913" "0" "c.1913G>T" "r.(?)" "p.(Gly638Val)" "12" "0000243360" "00025253" "99" "2275" "0" "2275" "0" "c.2275C>A" "r.(?)" "p.(Gln759Lys)" "15" "0000243552" "00025253" "99" "2008" "0" "2008" "0" "c.2008G>A" "r.(?)" "p.(Gly670Ser)" "14" "0000243570" "00025253" "99" "1828" "-10" "1828" "-10" "c.1828-10G>T" "r.(?)" "p.(=)" "11i" "0000243592" "00025253" "99" "2092" "0" "2092" "0" "c.2092G>A" "r.(?)" "p.(Val698Ile)" "14" "0000243593" "00025253" "99" "2092" "0" "2092" "0" "c.2092G>A" "r.(?)" "p.(Val698Ile)" "14" "0000243599" "00025253" "99" "1906" "0" "1906" "0" "c.1906C>A" "r.(?)" "p.(Pro636Thr)" "12" "0000243697" "00025253" "99" "1919" "0" "1919" "0" "c.1919G>T" "r.(?)" "p.(Ser640Ile)" "12" "0000243707" "00025253" "99" "1822" "0" "1822" "0" "c.1822G>A" "r.(?)" "p.(Gly608Arg)" "11" "0000243970" "00025253" "15" "1920" "29" "1920" "29" "c.1920+29G>A" "r.(?)" "p.(=)" "12i" "0000243971" "00025253" "15" "54" "0" "54" "0" "c.54C>T" "r.(?)" "p.(=)" "2" "0000243972" "00025253" "15" "117" "0" "117" "0" "c.117G>A" "r.(?)" "p.(=)" "2" "0000243973" "00025253" "15" "605" "0" "605" "0" "c.605C>T" "r.(?)" "p.(Pro202Leu)" "6" "0000243974" "00025253" "15" "689" "0" "689" "0" "c.689A>G" "r.(?)" "p.(Gln230Arg)" "6" "0000243975" "00025253" "15" "853" "0" "853" "0" "c.853G>A" "r.(?)" "p.(Asp285Asn)" "6" "0000243976" "00025253" "15" "855" "0" "855" "0" "c.855C>T" "r.(?)" "p.(=)" "6" "0000243977" "00025253" "15" "866" "0" "866" "0" "c.866T>C" "r.(?)" "p.(Val289Ala)" "6" "0000243978" "00025253" "15" "1108" "0" "1108" "0" "c.1108C>T" "r.(?)" "p.(Arg370Trp)" "6" "0000243979" "00025253" "15" "1321" "0" "1321" "0" "c.1321T>C" "r.(?)" "p.(Tyr441His)" "8" "0000243980" "00025253" "15" "1339" "0" "1339" "0" "c.1339T>C" "r.(?)" "p.(Ser447Pro)" "8" "0000243981" "00025253" "15" "1479" "0" "1479" "0" "c.1479G>A" "r.(?)" "p.(=)" "9" "0000243982" "00025253" "15" "1483" "0" "1483" "0" "c.1483G>A" "r.(?)" "p.(Ala495Thr)" "9" "0000243983" "00025253" "15" "1512" "0" "1512" "0" "c.1512T>C" "r.(?)" "p.(=)" "10" "0000243984" "00025253" "15" "1686" "0" "1686" "0" "c.1686A>G" "r.(?)" "p.(=)" "11" "0000243985" "00025253" "15" "1770" "0" "1770" "0" "c.1770T>C" "r.(?)" "p.(=)" "11" "0000243986" "00025253" "15" "1815" "0" "1815" "0" "c.1815G>A" "r.(?)" "p.(=)" "11" "0000243987" "00025253" "15" "1908" "0" "1908" "0" "c.1908G>A" "r.(?)" "p.(=)" "12" "0000244001" "00025253" "15" "1720" "0" "1720" "0" "c.1720G>A" "r.(?)" "p.(Ala574Thr)" "11" "0000244002" "00025253" "15" "1920" "25" "1920" "25" "c.1920+25C>T" "r.(?)" "p.(=)" "12i" "0000244052" "00025253" "15" "50" "0" "50" "0" "c.50C>T" "r.(?)" "p.(Thr17Met)" "2" "0000244053" "00025253" "15" "88" "0" "88" "0" "c.88A>G" "r.(?)" "p.(Thr30Ala)" "2" "0000244054" "00025253" "15" "1903" "0" "1903" "0" "c.1903G>A" "r.(?)" "p.(Val635Ile)" "12" "0000244071" "00025253" "15" "42" "0" "42" "0" "c.42C>T" "r.(?)" "p.(=)" "2" "0000244072" "00025253" "15" "1605" "0" "1605" "0" "c.1605C>T" "r.(?)" "p.(=)" "11" "0000244073" "00025253" "15" "1803" "0" "1803" "0" "c.1803G>A" "r.(?)" "p.(=)" "11" "0000247426" "00011803" "10" "1632" "0" "1632" "0" "c.1632A>G" "r.(?)" "p.(Ala544=)" "" "0000247426" "00025253" "10" "1686" "0" "1686" "0" "c.1686A>G" "r.(?)" "p.(Ala562=)" "" "0000247427" "00011803" "10" "307" "9" "307" "9" "c.307+9A>G" "r.(=)" "p.(=)" "" "0000247427" "00025253" "10" "307" "9" "307" "9" "c.307+9A>G" "r.(=)" "p.(=)" "" "0000247433" "00011803" "10" "-13" "0" "-13" "0" "c.-13A>G" "r.(?)" "p.(=)" "" "0000247433" "00025253" "10" "-13" "0" "-13" "0" "c.-13A>G" "r.(?)" "p.(=)" "" "0000247436" "00011803" "10" "689" "0" "689" "0" "c.689A>G" "r.(?)" "p.(Gln230Arg)" "" "0000247436" "00025253" "10" "689" "0" "689" "0" "c.689A>G" "r.(?)" "p.(Gln230Arg)" "" "0000249887" "00011803" "10" "1632" "0" "1632" "0" "c.1632A>G" "r.(?)" "p.(Ala544=)" "" "0000249887" "00025253" "10" "1686" "0" "1686" "0" "c.1686A>G" "r.(?)" "p.(Ala562=)" "" "0000249895" "00011803" "10" "307" "9" "307" "9" "c.307+9A>G" "r.(=)" "p.(=)" "" "0000249895" "00025253" "10" "307" "9" "307" "9" "c.307+9A>G" "r.(=)" "p.(=)" "" "0000249999" "00011803" "10" "689" "0" "689" "0" "c.689A>G" "r.(?)" "p.(Gln230Arg)" "" "0000249999" "00025253" "10" "689" "0" "689" "0" "c.689A>G" "r.(?)" "p.(Gln230Arg)" "" "0000250859" "00011803" "10" "689" "0" "689" "0" "c.689A>G" "r.(?)" "p.(Gln230Arg)" "" "0000250859" "00025253" "10" "689" "0" "689" "0" "c.689A>G" "r.(?)" "p.(Gln230Arg)" "" "0000253111" "00011803" "10" "1632" "0" "1632" "0" "c.1632A>G" "r.(?)" "p.(Ala544=)" "" "0000253111" "00025253" "10" "1686" "0" "1686" "0" "c.1686A>G" "r.(?)" "p.(Ala562=)" "" "0000253119" "00011803" "10" "307" "9" "307" "9" "c.307+9A>G" "r.(=)" "p.(=)" "" "0000253119" "00025253" "10" "307" "9" "307" "9" "c.307+9A>G" "r.(=)" "p.(=)" "" "0000253423" "00011803" "10" "-13" "0" "-13" "0" "c.-13A>G" "r.(?)" "p.(=)" "" "0000253423" "00025253" "10" "-13" "0" "-13" "0" "c.-13A>G" "r.(?)" "p.(=)" "" "0000256380" "00011803" "50" "1837" "0" "1837" "0" "c.1837A>G" "r.(?)" "p.(Asn613Asp)" "" "0000256380" "00025253" "50" "1891" "0" "1891" "0" "c.1891A>G" "r.(?)" "p.(Asn631Asp)" "" "0000279592" "00011803" "50" "121" "0" "121" "0" "c.121G>A" "r.(?)" "p.(Ala41Thr)" "" "0000279592" "00025253" "50" "121" "0" "121" "0" "c.121G>A" "r.(?)" "p.(Ala41Thr)" "" "0000279593" "00011803" "10" "1321" "0" "1321" "0" "c.1321T>C" "r.(?)" "p.(Tyr441His)" "" "0000279593" "00025253" "10" "1321" "0" "1321" "0" "c.1321T>C" "r.(?)" "p.(Tyr441His)" "" "0000279594" "00011803" "10" "1339" "0" "1339" "0" "c.1339T>C" "r.(?)" "p.(Ser447Pro)" "" "0000279594" "00025253" "10" "1339" "0" "1339" "0" "c.1339T>C" "r.(?)" "p.(Ser447Pro)" "" "0000279595" "00011803" "10" "1479" "0" "1479" "0" "c.1479G>A" "r.(?)" "p.(Pro493=)" "" "0000279595" "00025253" "10" "1479" "0" "1479" "0" "c.1479G>A" "r.(?)" "p.(Pro493=)" "" "0000279596" "00011803" "10" "1507" "2342" "1507" "2342" "c.1507+2342T>C" "r.(=)" "p.(=)" "" "0000279596" "00025253" "10" "1512" "0" "1512" "0" "c.1512T>C" "r.(?)" "p.(Thr504=)" "" "0000279597" "00011803" "10" "1716" "0" "1716" "0" "c.1716T>C" "r.(?)" "p.(Asn572=)" "" "0000279597" "00025253" "10" "1770" "0" "1770" "0" "c.1770T>C" "r.(?)" "p.(Asn590=)" "" "0000279598" "00011803" "10" "1761" "0" "1761" "0" "c.1761G>A" "r.(?)" "p.(Pro587=)" "" "0000279598" "00025253" "10" "1815" "0" "1815" "0" "c.1815G>A" "r.(?)" "p.(Pro605=)" "" "0000279599" "00011803" "10" "220" "18" "220" "18" "c.220+18C>T" "r.(=)" "p.(=)" "" "0000279599" "00025253" "10" "220" "18" "220" "18" "c.220+18C>T" "r.(=)" "p.(=)" "" "0000279600" "00011803" "50" "284" "0" "284" "0" "c.284C>T" "r.(?)" "p.(Thr95Met)" "" "0000279600" "00025253" "50" "284" "0" "284" "0" "c.284C>T" "r.(?)" "p.(Thr95Met)" "" "0000279601" "00011803" "10" "605" "0" "605" "0" "c.605C>T" "r.(?)" "p.(Pro202Leu)" "" "0000279601" "00025253" "10" "605" "0" "605" "0" "c.605C>T" "r.(?)" "p.(Pro202Leu)" "" "0000279602" "00011803" "30" "637" "0" "637" "0" "c.637G>A" "r.(?)" "p.(Gly213Arg)" "" "0000279602" "00025253" "30" "637" "0" "637" "0" "c.637G>A" "r.(?)" "p.(Gly213Arg)" "" "0000279603" "00011803" "10" "853" "0" "853" "0" "c.853G>A" "r.(?)" "p.(Asp285Asn)" "" "0000279603" "00025253" "10" "853" "0" "853" "0" "c.853G>A" "r.(?)" "p.(Asp285Asn)" "" "0000279604" "00011803" "10" "855" "0" "855" "0" "c.855C>T" "r.(?)" "p.(Asp285=)" "" "0000279604" "00025253" "10" "855" "0" "855" "0" "c.855C>T" "r.(?)" "p.(Asp285=)" "" "0000279605" "00011803" "10" "866" "0" "866" "0" "c.866T>C" "r.(?)" "p.(Val289Ala)" "" "0000279605" "00025253" "10" "866" "0" "866" "0" "c.866T>C" "r.(?)" "p.(Val289Ala)" "" "0000281695" "00011803" "10" "10214" "0" "10214" "0" "c.*7937G>A" "r.(=)" "p.(=)" "" "0000281695" "00025253" "10" "10268" "0" "10268" "0" "c.*7937G>A" "r.(=)" "p.(=)" "" "0000283624" "00011803" "30" "1101" "0" "1101" "0" "c.1101C>T" "r.(?)" "p.(Pro367=)" "" "0000283624" "00025253" "30" "1101" "0" "1101" "0" "c.1101C>T" "r.(?)" "p.(Pro367=)" "" "0000283625" "00011803" "10" "1321" "0" "1321" "0" "c.1321T>C" "r.(?)" "p.(Tyr441His)" "" "0000283625" "00025253" "10" "1321" "0" "1321" "0" "c.1321T>C" "r.(?)" "p.(Tyr441His)" "" "0000283626" "00011803" "10" "1339" "0" "1339" "0" "c.1339T>C" "r.(?)" "p.(Ser447Pro)" "" "0000283626" "00025253" "10" "1339" "0" "1339" "0" "c.1339T>C" "r.(?)" "p.(Ser447Pro)" "" "0000283627" "00011803" "10" "1479" "0" "1479" "0" "c.1479G>A" "r.(?)" "p.(Pro493=)" "" "0000283627" "00025253" "10" "1479" "0" "1479" "0" "c.1479G>A" "r.(?)" "p.(Pro493=)" "" "0000283628" "00011803" "10" "1507" "2342" "1507" "2342" "c.1507+2342T>C" "r.(=)" "p.(=)" "" "0000283628" "00025253" "10" "1512" "0" "1512" "0" "c.1512T>C" "r.(?)" "p.(Thr504=)" "" "0000283629" "00011803" "10" "1716" "0" "1716" "0" "c.1716T>C" "r.(?)" "p.(Asn572=)" "" "0000283629" "00025253" "10" "1770" "0" "1770" "0" "c.1770T>C" "r.(?)" "p.(Asn590=)" "" "0000283630" "00011803" "10" "1761" "0" "1761" "0" "c.1761G>A" "r.(?)" "p.(Pro587=)" "" "0000283630" "00025253" "10" "1815" "0" "1815" "0" "c.1815G>A" "r.(?)" "p.(Pro605=)" "" "0000283631" "00011803" "90" "1895" "0" "1895" "0" "c.1895T>G" "r.(?)" "p.(Leu632Arg)" "" "0000283631" "00025253" "90" "1949" "0" "1949" "0" "c.1949T>G" "r.(?)" "p.(Leu650Arg)" "" "0000283632" "00011803" "90" "2006" "0" "2006" "0" "c.2006C>T" "r.(?)" "p.(Ser669Leu)" "" "0000283632" "00025253" "90" "2060" "0" "2060" "0" "c.2060C>T" "r.(?)" "p.(Ser687Leu)" "" "0000283633" "00011803" "10" "220" "18" "220" "18" "c.220+18C>T" "r.(=)" "p.(=)" "" "0000283633" "00025253" "10" "220" "18" "220" "18" "c.220+18C>T" "r.(=)" "p.(=)" "" "0000283634" "00011803" "10" "221" "-8" "221" "-8" "c.221-8G>A" "r.(=)" "p.(=)" "" "0000283634" "00025253" "10" "221" "-8" "221" "-8" "c.221-8G>A" "r.(=)" "p.(=)" "" "0000283635" "00011803" "10" "605" "0" "605" "0" "c.605C>T" "r.(?)" "p.(Pro202Leu)" "" "0000283635" "00025253" "10" "605" "0" "605" "0" "c.605C>T" "r.(?)" "p.(Pro202Leu)" "" "0000283636" "00011803" "10" "853" "0" "853" "0" "c.853G>A" "r.(?)" "p.(Asp285Asn)" "" "0000283636" "00025253" "10" "853" "0" "853" "0" "c.853G>A" "r.(?)" "p.(Asp285Asn)" "" "0000283637" "00011803" "10" "855" "0" "855" "0" "c.855C>T" "r.(?)" "p.(Asp285=)" "" "0000283637" "00025253" "10" "855" "0" "855" "0" "c.855C>T" "r.(?)" "p.(Asp285=)" "" "0000283638" "00011803" "10" "866" "0" "866" "0" "c.866T>C" "r.(?)" "p.(Val289Ala)" "" "0000283638" "00025253" "10" "866" "0" "866" "0" "c.866T>C" "r.(?)" "p.(Val289Ala)" "" "0000286116" "00011803" "30" "1126" "21" "1126" "21" "c.1126+21C>T" "r.(=)" "p.(=)" "" "0000286116" "00025253" "30" "1126" "21" "1126" "21" "c.1126+21C>T" "r.(=)" "p.(=)" "" "0000286117" "00011803" "10" "1321" "0" "1321" "0" "c.1321T>C" "r.(?)" "p.(Tyr441His)" "" "0000286117" "00025253" "10" "1321" "0" "1321" "0" "c.1321T>C" "r.(?)" "p.(Tyr441His)" "" "0000286118" "00011803" "30" "134" "-2537" "134" "-2537" "c.134-2537T>C" "r.(=)" "p.(=)" "" "0000286118" "00025253" "30" "134" "-2537" "134" "-2537" "c.134-2537T>C" "r.(=)" "p.(=)" "" "0000286119" "00011803" "10" "1507" "2342" "1507" "2342" "c.1507+2342T>C" "r.(=)" "p.(=)" "" "0000286119" "00025253" "10" "1512" "0" "1512" "0" "c.1512T>C" "r.(?)" "p.(Thr504=)" "" "0000286120" "00011803" "30" "1508" "-31" "1508" "-31" "c.1508-31T>C" "r.(=)" "p.(=)" "" "0000286120" "00025253" "30" "1562" "-31" "1562" "-31" "c.1562-31T>C" "r.(=)" "p.(=)" "" "0000286121" "00011803" "10" "1761" "0" "1761" "0" "c.1761G>A" "r.(?)" "p.(Pro587=)" "" "0000286121" "00025253" "10" "1815" "0" "1815" "0" "c.1815G>A" "r.(?)" "p.(Pro605=)" "" "0000286122" "00011803" "30" "1773" "41" "1773" "41" "c.1773+41G>A" "r.(=)" "p.(=)" "" "0000286122" "00025253" "30" "1827" "41" "1827" "41" "c.1827+41G>A" "r.(=)" "p.(=)" "" "0000286123" "00011803" "30" "637" "0" "637" "0" "c.637G>A" "r.(?)" "p.(Gly213Arg)" "" "0000286123" "00025253" "30" "637" "0" "637" "0" "c.637G>A" "r.(?)" "p.(Gly213Arg)" "" "0000286124" "00011803" "30" "671" "0" "671" "0" "c.671T>G" "r.(?)" "p.(Val224Gly)" "" "0000286124" "00025253" "30" "671" "0" "671" "0" "c.671T>G" "r.(?)" "p.(Val224Gly)" "" "0000286125" "00011803" "30" "687" "0" "687" "0" "c.687C>A" "r.(?)" "p.(Pro229=)" "" "0000286125" "00025253" "30" "687" "0" "687" "0" "c.687C>A" "r.(?)" "p.(Pro229=)" "" "0000286126" "00011803" "30" "1866" "29" "1866" "29" "c.1866+29G>A" "r.(=)" "p.(=)" "" "0000286126" "00025253" "30" "1920" "29" "1920" "29" "c.1920+29G>A" "r.(=)" "p.(=)" "" "0000291480" "00011803" "10" "2303" "0" "2303" "0" "c.*26T>C" "r.(=)" "p.(=)" "" "0000291480" "00025253" "10" "2357" "0" "2357" "0" "c.*26T>C" "r.(=)" "p.(=)" "" "0000291481" "00011803" "50" "2341" "0" "2341" "0" "c.*64G>A" "r.(=)" "p.(=)" "" "0000291481" "00025253" "50" "2395" "0" "2395" "0" "c.*64G>A" "r.(=)" "p.(=)" "" "0000291482" "00011803" "50" "2345" "0" "2347" "0" "c.*68_*70del" "r.(=)" "p.(=)" "" "0000291482" "00025253" "50" "2399" "0" "2401" "0" "c.*68_*70del" "r.(=)" "p.(=)" "" "0000291483" "00011803" "90" "2116" "0" "2116" "0" "c.2116G>A" "r.(?)" "p.(Gly706Arg)" "" "0000291483" "00025253" "90" "2170" "0" "2170" "0" "c.2170G>A" "r.(?)" "p.(Gly724Arg)" "" "0000291484" "00011803" "10" "1479" "0" "1479" "0" "c.1479G>A" "r.(?)" "p.(Pro493=)" "" "0000291484" "00025253" "10" "1479" "0" "1479" "0" "c.1479G>A" "r.(?)" "p.(Pro493=)" "" "0000291485" "00011803" "50" "1507" "2367" "1507" "2367" "c.1507+2367C>A" "r.(=)" "p.(=)" "" "0000291485" "00025253" "50" "1537" "0" "1537" "0" "c.1537C>A" "r.(?)" "p.(Pro513Thr)" "" "0000291486" "00011803" "30" "1698" "0" "1698" "0" "c.1698C>A" "r.(?)" "p.(Pro566=)" "" "0000291486" "00025253" "30" "1752" "0" "1752" "0" "c.1752C>A" "r.(?)" "p.(Pro584=)" "" "0000291487" "00011803" "10" "1716" "0" "1716" "0" "c.1716T>C" "r.(?)" "p.(Asn572=)" "" "0000291487" "00025253" "10" "1770" "0" "1770" "0" "c.1770T>C" "r.(?)" "p.(Asn590=)" "" "0000291488" "00011803" "10" "1761" "0" "1761" "0" "c.1761G>A" "r.(?)" "p.(Pro587=)" "" "0000291488" "00025253" "10" "1815" "0" "1815" "0" "c.1815G>A" "r.(?)" "p.(Pro605=)" "" "0000291489" "00011803" "90" "1895" "0" "1895" "0" "c.1895T>G" "r.(?)" "p.(Leu632Arg)" "" "0000291489" "00025253" "90" "1949" "0" "1949" "0" "c.1949T>G" "r.(?)" "p.(Leu650Arg)" "" "0000291490" "00011803" "10" "220" "18" "220" "18" "c.220+18C>T" "r.(=)" "p.(=)" "" "0000291490" "00025253" "10" "220" "18" "220" "18" "c.220+18C>T" "r.(=)" "p.(=)" "" "0000291491" "00011803" "30" "258" "0" "258" "0" "c.258C>G" "r.(?)" "p.(Gly86=)" "" "0000291491" "00025253" "30" "258" "0" "258" "0" "c.258C>G" "r.(?)" "p.(Gly86=)" "" "0000291492" "00011803" "30" "307" "12" "307" "12" "c.307+12C>G" "r.(=)" "p.(=)" "" "0000291492" "00025253" "30" "307" "12" "307" "12" "c.307+12C>G" "r.(=)" "p.(=)" "" "0000291493" "00011803" "10" "1483" "0" "1483" "0" "c.1483G>A" "r.(?)" "p.(Ala495Thr)" "" "0000291493" "00025253" "10" "1483" "0" "1483" "0" "c.1483G>A" "r.(?)" "p.(Ala495Thr)" "" "0000291494" "00011803" "30" "1508" "-12" "1508" "-12" "c.1508-12C>T" "r.(=)" "p.(=)" "" "0000291494" "00025253" "30" "1562" "-12" "1562" "-12" "c.1562-12C>T" "r.(=)" "p.(=)" "" "0000291495" "00011803" "10" "1508" "-26" "1508" "-26" "c.1508-26G>A" "r.(=)" "p.(=)" "" "0000291495" "00025253" "10" "1562" "-26" "1562" "-26" "c.1562-26G>A" "r.(=)" "p.(=)" "" "0000291496" "00011803" "30" "664" "0" "664" "0" "c.664C>A" "r.(?)" "p.(Arg222Ser)" "" "0000291496" "00025253" "30" "664" "0" "664" "0" "c.664C>A" "r.(?)" "p.(Arg222Ser)" "" "0000291497" "00011803" "30" "671" "0" "671" "0" "c.671T>G" "r.(?)" "p.(Val224Gly)" "" "0000291497" "00025253" "30" "671" "0" "671" "0" "c.671T>G" "r.(?)" "p.(Val224Gly)" "" "0000291498" "00011803" "30" "1713" "0" "1713" "0" "c.1713G>A" "r.(?)" "p.(Lys571=)" "" "0000291498" "00025253" "30" "1767" "0" "1767" "0" "c.1767G>A" "r.(?)" "p.(Lys589=)" "" "0000291499" "00011803" "30" "1731" "0" "1731" "0" "c.1731C>T" "r.(?)" "p.(Ile577=)" "" "0000291499" "00025253" "30" "1785" "0" "1785" "0" "c.1785C>T" "r.(?)" "p.(Ile595=)" "" "0000291500" "00011803" "90" "1766" "0" "1766" "0" "c.1766G>T" "r.(?)" "p.(Gly589Val)" "" "0000291500" "00025253" "90" "1820" "0" "1820" "0" "c.1820G>T" "r.(?)" "p.(Gly607Val)" "" "0000291501" "00011803" "30" "1809" "0" "1809" "0" "c.1809C>T" "r.(?)" "p.(Asn603=)" "" "0000291501" "00025253" "30" "1863" "0" "1863" "0" "c.1863C>T" "r.(?)" "p.(Asn621=)" "" "0000291502" "00011803" "90" "1839" "0" "1839" "0" "c.1839T>C" "r.(?)" "p.(Asn613=)" "" "0000291502" "00025253" "90" "1893" "0" "1893" "0" "c.1893T>C" "r.(?)" "p.(Asn631=)" "" "0000291503" "00011803" "90" "1852" "0" "1852" "0" "c.1852C>T" "r.(?)" "p.(Pro618Ser)" "" "0000291503" "00025253" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Pro636Ser)" "" "0000291504" "00011803" "90" "1853" "0" "1853" "0" "c.1853C>T" "r.(?)" "p.(Pro618Leu)" "" "0000291504" "00025253" "90" "1907" "0" "1907" "0" "c.1907C>T" "r.(?)" "p.(Pro636Leu)" "" "0000291505" "00011803" "90" "1866" "16" "1866" "16" "c.1866+16C>T" "r.(=)" "p.(=)" "" "0000291505" "00025253" "90" "1920" "16" "1920" "16" "c.1920+16C>T" "r.(=)" "p.(=)" "" "0000291506" "00011803" "10" "1866" "28" "1866" "28" "c.1866+28C>T" "r.(=)" "p.(=)" "" "0000291506" "00025253" "10" "1920" "28" "1920" "28" "c.1920+28C>T" "r.(=)" "p.(=)" "" "0000291507" "00011803" "10" "1866" "29" "1866" "29" "c.1866+29G>A" "r.(=)" "p.(=)" "" "0000291507" "00025253" "10" "1920" "29" "1920" "29" "c.1920+29G>A" "r.(=)" "p.(=)" "" "0000291508" "00011803" "90" "1910" "0" "1910" "0" "c.1910C>T" "r.(?)" "p.(Ser637Phe)" "" "0000291508" "00025253" "90" "1964" "0" "1964" "0" "c.1964C>T" "r.(?)" "p.(Ser655Phe)" "" "0000291509" "00011803" "10" "1948" "34" "1948" "34" "c.1948+34G>A" "r.(=)" "p.(=)" "" "0000291509" "00025253" "10" "2002" "34" "2002" "34" "c.2002+34G>A" "r.(=)" "p.(=)" "" "0000338107" "00011803" "10" "-13" "0" "-13" "0" "c.-13A>G" "r.(?)" "p.(=)" "" "0000338107" "00025253" "10" "-13" "0" "-13" "0" "c.-13A>G" "r.(?)" "p.(=)" "" "0000340088" "00011803" "10" "11272" "0" "11272" "0" "c.*8995G>A" "r.(=)" "p.(=)" "" "0000340088" "00025253" "10" "11326" "0" "11326" "0" "c.*8995G>A" "r.(=)" "p.(=)" "" "0000340089" "00011803" "10" "11281" "0" "11281" "0" "c.*9004G>A" "r.(=)" "p.(=)" "" "0000340089" "00025253" "10" "11335" "0" "11335" "0" "c.*9004G>A" "r.(=)" "p.(=)" "" "0000341497" "00011803" "10" "1632" "0" "1632" "0" "c.1632A>G" "r.(?)" "p.(Ala544=)" "" "0000341497" "00025253" "10" "1686" "0" "1686" "0" "c.1686A>G" "r.(?)" "p.(Ala562=)" "" "0000343798" "00011803" "10" "1716" "0" "1716" "0" "c.1716T>C" "r.(?)" "p.(Asn572=)" "" "0000343798" "00025253" "10" "1770" "0" "1770" "0" "c.1770T>C" "r.(?)" "p.(Asn590=)" "" "0000344205" "00011803" "30" "11283" "0" "11283" "0" "c.*9006C>T" "r.(=)" "p.(=)" "" "0000344205" "00025253" "30" "11337" "0" "11337" "0" "c.*9006C>T" "r.(=)" "p.(=)" "" "0000346553" "00011803" "10" "9646" "0" "9646" "0" "c.*7369A>G" "r.(=)" "p.(=)" "" "0000346553" "00025253" "10" "9700" "0" "9700" "0" "c.*7369A>G" "r.(=)" "p.(=)" "" "0000348476" "00011803" "10" "1479" "0" "1479" "0" "c.1479G>A" "r.(?)" "p.(Pro493=)" "" "0000348476" "00025253" "10" "1479" "0" "1479" "0" "c.1479G>A" "r.(?)" "p.(Pro493=)" "" "0000349019" "00011803" "10" "1339" "0" "1339" "0" "c.1339T>C" "r.(?)" "p.(Ser447Pro)" "" "0000349019" "00025253" "10" "1339" "0" "1339" "0" "c.1339T>C" "r.(?)" "p.(Ser447Pro)" "" "0000350101" "00011803" "10" "1321" "0" "1321" "0" "c.1321T>C" "r.(?)" "p.(Tyr441His)" "" "0000350101" "00025253" "10" "1321" "0" "1321" "0" "c.1321T>C" "r.(?)" "p.(Tyr441His)" "" "0000351205" "00011803" "10" "307" "9" "307" "9" "c.307+9A>G" "r.(=)" "p.(=)" "" "0000351205" "00025253" "10" "307" "9" "307" "9" "c.307+9A>G" "r.(=)" "p.(=)" "" "0000351207" "00011803" "70" "11182" "0" "11182" "0" "c.*8905T>C" "r.(=)" "p.(=)" "" "0000351207" "00025253" "70" "11236" "0" "11236" "0" "c.*8905T>C" "r.(=)" "p.(=)" "" "0000447050" "00011803" "70" "1866" "14" "1866" "14" "c.1866+14C>A" "r.spl?" "p.(?)" "" "0000474691" "00011803" "95" "2116" "0" "2116" "0" "c.2116G>A" "r.(?)" "p.(Gly706Arg)" "14" "0000562011" "00011803" "30" "221" "-8" "221" "-8" "c.221-8G>A" "r.(=)" "p.(=)" "" "0000562011" "00025253" "30" "221" "-8" "221" "-8" "c.221-8G>A" "r.(=)" "p.(=)" "" "0000562012" "00011803" "30" "256" "0" "256" "0" "c.256G>A" "r.(?)" "p.(Gly86Ser)" "" "0000562012" "00025253" "30" "256" "0" "256" "0" "c.256G>A" "r.(?)" "p.(Gly86Ser)" "" "0000562013" "00011803" "30" "258" "0" "258" "0" "c.258C>G" "r.(?)" "p.(Gly86=)" "" "0000562013" "00025253" "30" "258" "0" "258" "0" "c.258C>G" "r.(?)" "p.(Gly86=)" "" "0000562014" "00011803" "30" "284" "0" "284" "0" "c.284C>T" "r.(?)" "p.(Thr95Met)" "" "0000562014" "00025253" "30" "284" "0" "284" "0" "c.284C>T" "r.(?)" "p.(Thr95Met)" "" "0000562015" "00011803" "30" "307" "12" "307" "12" "c.307+12C>G" "r.(=)" "p.(=)" "" "0000562015" "00025253" "30" "307" "12" "307" "12" "c.307+12C>G" "r.(=)" "p.(=)" "" "0000562016" "00011803" "50" "418" "0" "418" "0" "c.418C>T" "r.(?)" "p.(Pro140Ser)" "" "0000562016" "00025253" "50" "418" "0" "418" "0" "c.418C>T" "r.(?)" "p.(Pro140Ser)" "" "0000562017" "00011803" "30" "616" "0" "616" "0" "c.616G>A" "r.(?)" "p.(Ala206Thr)" "" "0000562017" "00025253" "30" "616" "0" "616" "0" "c.616G>A" "r.(?)" "p.(Ala206Thr)" "" "0000562018" "00011803" "50" "671" "0" "671" "0" "c.671T>G" "r.(?)" "p.(Val224Gly)" "" "0000562018" "00025253" "50" "671" "0" "671" "0" "c.671T>G" "r.(?)" "p.(Val224Gly)" "" "0000562020" "00011803" "30" "783" "0" "783" "0" "c.783G>A" "r.(?)" "p.(Ala261=)" "" "0000562020" "00025253" "30" "783" "0" "783" "0" "c.783G>A" "r.(?)" "p.(Ala261=)" "" "0000562021" "00011803" "50" "803" "0" "803" "0" "c.803C>G" "r.(?)" "p.(Pro268Arg)" "" "0000562021" "00025253" "50" "803" "0" "803" "0" "c.803C>G" "r.(?)" "p.(Pro268Arg)" "" "0000562022" "00011803" "10" "953" "0" "953" "0" "c.953C>T" "r.(?)" "p.(Ser318Leu)" "" "0000562022" "00025253" "10" "953" "0" "953" "0" "c.953C>T" "r.(?)" "p.(Ser318Leu)" "" "0000562023" "00011803" "30" "953" "0" "953" "0" "c.953C>T" "r.(?)" "p.(Ser318Leu)" "" "0000562023" "00025253" "30" "953" "0" "953" "0" "c.953C>T" "r.(?)" "p.(Ser318Leu)" "" "0000562024" "00011803" "30" "1015" "0" "1015" "0" "c.1015G>A" "r.(?)" "p.(Gly339Ser)" "" "0000562024" "00025253" "30" "1015" "0" "1015" "0" "c.1015G>A" "r.(?)" "p.(Gly339Ser)" "" "0000562025" "00011803" "30" "1101" "0" "1101" "0" "c.1101C>T" "r.(?)" "p.(Pro367=)" "" "0000562025" "00025253" "30" "1101" "0" "1101" "0" "c.1101C>T" "r.(?)" "p.(Pro367=)" "" "0000562026" "00011803" "10" "1108" "0" "1108" "0" "c.1108C>T" "r.(?)" "p.(Arg370Trp)" "" "0000562026" "00025253" "10" "1108" "0" "1108" "0" "c.1108C>T" "r.(?)" "p.(Arg370Trp)" "" "0000562027" "00011803" "10" "1108" "0" "1108" "0" "c.1108C>T" "r.(?)" "p.(Arg370Trp)" "" "0000562027" "00025253" "10" "1108" "0" "1108" "0" "c.1108C>T" "r.(?)" "p.(Arg370Trp)" "" "0000562028" "00011803" "30" "1134" "0" "1134" "0" "c.1134G>C" "r.(?)" "p.(Met378Ile)" "" "0000562028" "00025253" "30" "1134" "0" "1134" "0" "c.1134G>C" "r.(?)" "p.(Met378Ile)" "" "0000562029" "00011803" "30" "1164" "0" "1164" "0" "c.1164C>T" "r.(?)" "p.(Ser388=)" "" "0000562029" "00025253" "30" "1164" "0" "1164" "0" "c.1164C>T" "r.(?)" "p.(Ser388=)" "" "0000562030" "00011803" "30" "1218" "0" "1218" "0" "c.1218T>C" "r.(?)" "p.(Asn406=)" "" "0000562030" "00025253" "30" "1218" "0" "1218" "0" "c.1218T>C" "r.(?)" "p.(Asn406=)" "" "0000562031" "00011803" "50" "1280" "0" "1280" "0" "c.1280C>T" "r.(?)" "p.(Ser427Phe)" "" "0000562031" "00025253" "50" "1280" "0" "1280" "0" "c.1280C>T" "r.(?)" "p.(Ser427Phe)" "" "0000562032" "00011803" "30" "1280" "0" "1280" "0" "c.1280C>T" "r.(?)" "p.(Ser427Phe)" "" "0000562032" "00025253" "30" "1280" "0" "1280" "0" "c.1280C>T" "r.(?)" "p.(Ser427Phe)" "" "0000562033" "00011803" "30" "1405" "0" "1405" "0" "c.1405G>A" "r.(?)" "p.(Ala469Thr)" "" "0000562033" "00025253" "30" "1405" "0" "1405" "0" "c.1405G>A" "r.(?)" "p.(Ala469Thr)" "" "0000562037" "00011803" "30" "1749" "0" "1749" "0" "c.1749G>A" "r.(?)" "p.(Leu583=)" "" "0000562037" "00025253" "30" "1803" "0" "1803" "0" "c.1803G>A" "r.(?)" "p.(Leu601=)" "" "0000562038" "00011803" "90" "1837" "0" "1837" "0" "c.1837A>G" "r.(?)" "p.(Asn613Asp)" "" "0000562038" "00025253" "90" "1891" "0" "1891" "0" "c.1891A>G" "r.(?)" "p.(Asn631Asp)" "" "0000562039" "00011803" "50" "1858" "0" "1858" "0" "c.1858G>T" "r.(?)" "p.(Gly620Cys)" "" "0000562039" "00025253" "50" "1912" "0" "1912" "0" "c.1912G>T" "r.(?)" "p.(Gly638Cys)" "" "0000562040" "00011803" "30" "2088" "0" "2088" "0" "c.2088C>T" "r.(?)" "p.(Arg696=)" "" "0000562040" "00025253" "30" "2142" "0" "2142" "0" "c.2142C>T" "r.(?)" "p.(Arg714=)" "" "0000562041" "00011803" "90" "2167" "0" "2167" "0" "c.2167C>T" "r.(?)" "p.(Arg723Trp)" "" "0000562041" "00025253" "90" "2221" "0" "2221" "0" "c.2221C>T" "r.(?)" "p.(Arg741Trp)" "" "0000562042" "00011803" "30" "2171" "0" "2171" "0" "c.2171A>G" "r.(?)" "p.(His724Arg)" "" "0000562042" "00025253" "30" "2225" "0" "2225" "0" "c.2225A>G" "r.(?)" "p.(His742Arg)" "" "0000562043" "00011803" "30" "10190" "0" "10190" "0" "c.*7913G>A" "r.(=)" "p.(=)" "" "0000562043" "00025253" "30" "10244" "0" "10244" "0" "c.*7913G>A" "r.(=)" "p.(=)" "" "0000562045" "00011803" "90" "10246" "0" "10246" "0" "c.*7969del" "r.(?)" "p.(=)" "" "0000562045" "00025253" "90" "10300" "0" "10300" "0" "c.*7969del" "r.(?)" "p.(=)" "" "0000562046" "00011803" "90" "10306" "0" "10306" "0" "c.*8029dup" "r.(?)" "p.(=)" "" "0000562046" "00025253" "90" "10360" "0" "10360" "0" "c.*8029dup" "r.(?)" "p.(=)" "" "0000616640" "00011803" "30" "664" "0" "664" "0" "c.664C>A" "r.(?)" "p.(Arg222Ser)" "" "0000616640" "00025253" "30" "664" "0" "664" "0" "c.664C>A" "r.(?)" "p.(Arg222Ser)" "" "0000616641" "00011803" "10" "1483" "0" "1483" "0" "c.1483G>A" "r.(?)" "p.(Ala495Thr)" "" "0000616641" "00025253" "10" "1483" "0" "1483" "0" "c.1483G>A" "r.(?)" "p.(Ala495Thr)" "" "0000616642" "00011803" "30" "1605" "0" "1605" "0" "c.1605A>C" "r.(?)" "p.(Pro535=)" "" "0000616642" "00025253" "30" "1659" "0" "1659" "0" "c.1659A>C" "r.(?)" "p.(Pro553=)" "" "0000616643" "00011803" "30" "1609" "0" "1609" "0" "c.1609A>C" "r.(?)" "p.(Thr537Pro)" "" "0000616643" "00025253" "30" "1663" "0" "1663" "0" "c.1663A>C" "r.(?)" "p.(Thr555Pro)" "" "0000616644" "00011803" "30" "2094" "0" "2094" "0" "c.2094C>T" "r.(?)" "p.(Asn698=)" "" "0000616644" "00025253" "30" "2148" "0" "2148" "0" "c.2148C>T" "r.(?)" "p.(Asn716=)" "" "0000623702" "00011803" "30" "1507" "16" "1507" "16" "c.1507+16T>C" "r.(=)" "p.(=)" "" "0000623702" "00025253" "30" "1507" "16" "1507" "16" "c.1507+16T>C" "r.(=)" "p.(=)" "" "0000649620" "00011803" "10" "689" "0" "689" "0" "c.689A>G" "r.(?)" "p.(Gln230Arg)" "" "0000649620" "00025253" "10" "689" "0" "689" "0" "c.689A>G" "r.(?)" "p.(Gln230Arg)" "" "0000649621" "00011803" "50" "1280" "0" "1280" "0" "c.1280C>T" "r.(?)" "p.(Ser427Phe)" "" "0000649621" "00025253" "50" "1280" "0" "1280" "0" "c.1280C>T" "r.(?)" "p.(Ser427Phe)" "" "0000649622" "00011803" "30" "4444" "0" "4444" "0" "c.*2167G>A" "r.(=)" "p.(=)" "" "0000649622" "00025253" "30" "4498" "0" "4498" "0" "c.*2167G>A" "r.(=)" "p.(=)" "" "0000658161" "00011803" "30" "890" "0" "890" "0" "c.890C>T" "r.(?)" "p.(Ala297Val)" "" "0000658161" "00025253" "30" "890" "0" "890" "0" "c.890C>T" "r.(?)" "p.(Ala297Val)" "" "0000669403" "00011803" "10" "689" "0" "689" "0" "c.689A>G" "r.(?)" "p.(Gln230Arg)" "" "0000669403" "00025253" "10" "689" "0" "689" "0" "c.689A>G" "r.(?)" "p.(Gln230Arg)" "" "0000680904" "00011803" "50" "319" "0" "319" "0" "c.319G>A" "r.(?)" "p.(Gly107Ser)" "" "0000680904" "00025253" "50" "319" "0" "319" "0" "c.319G>A" "r.(?)" "p.(Gly107Ser)" "" "0000692378" "00011803" "30" "9813" "0" "9813" "0" "c.*7536T>C" "r.(=)" "p.(=)" "" "0000692378" "00025253" "30" "9867" "0" "9867" "0" "c.*7536T>C" "r.(=)" "p.(=)" "" "0000726463" "00011803" "30" "1539" "0" "1539" "0" "c.1539C>G" "r.(?)" "p.(Gly513=)" "" "0000726463" "00025253" "30" "1593" "0" "1593" "0" "c.1593C>G" "r.(?)" "p.(Gly531=)" "" "0000726464" "00011803" "30" "1666" "0" "1666" "0" "c.1666G>A" "r.(?)" "p.(Ala556Thr)" "" "0000726464" "00025253" "30" "1720" "0" "1720" "0" "c.1720G>A" "r.(?)" "p.(Ala574Thr)" "" "0000726465" "00011803" "30" "2061" "15" "2061" "15" "c.2061+15G>T" "r.(=)" "p.(=)" "" "0000726465" "00025253" "30" "2115" "15" "2115" "15" "c.2115+15G>T" "r.(=)" "p.(=)" "" "0000726466" "00011803" "90" "10212" "0" "10212" "0" "c.*7935G>A" "r.(=)" "p.(=)" "" "0000726466" "00025253" "90" "10266" "0" "10266" "0" "c.*7935G>A" "r.(=)" "p.(=)" "" "0000787514" "00011803" "50" "919" "0" "919" "0" "c.919A>G" "r.(?)" "p.(Ile307Val)" "6" "0000808050" "00011803" "50" "55" "0" "55" "0" "c.55G>T" "r.(?)" "p.(Gly19Trp)" "" "0000808050" "00025253" "50" "55" "0" "55" "0" "c.55G>T" "r.(?)" "p.(Gly19Trp)" "" "0000808051" "00011803" "30" "435" "0" "435" "0" "c.435G>C" "r.(?)" "p.(Leu145=)" "" "0000808051" "00025253" "30" "435" "0" "435" "0" "c.435G>C" "r.(?)" "p.(Leu145=)" "" "0000808052" "00011803" "30" "1507" "2365" "1507" "2365" "c.1507+2365C>A" "r.(=)" "p.(=)" "" "0000808052" "00025253" "30" "1535" "0" "1535" "0" "c.1535C>A" "r.(?)" "p.(Pro512His)" "" "0000808053" "00011803" "30" "9731" "0" "9731" "0" "c.*7454G>A" "r.(=)" "p.(=)" "" "0000808053" "00025253" "30" "9785" "0" "9785" "0" "c.*7454G>A" "r.(=)" "p.(=)" "" "0000854964" "00011803" "30" "404" "0" "404" "0" "c.404G>T" "r.(?)" "p.(Gly135Val)" "" "0000854964" "00025253" "30" "404" "0" "404" "0" "c.404G>T" "r.(?)" "p.(Gly135Val)" "" "0000854965" "00011803" "50" "502" "0" "502" "0" "c.502C>T" "r.(?)" "p.(Arg168Cys)" "" "0000854965" "00025253" "50" "502" "0" "502" "0" "c.502C>T" "r.(?)" "p.(Arg168Cys)" "" "0000854966" "00011803" "90" "2167" "0" "2167" "0" "c.2167C>T" "r.(?)" "p.(Arg723Trp)" "" "0000854966" "00025253" "90" "2221" "0" "2221" "0" "c.2221C>T" "r.(?)" "p.(Arg741Trp)" "" "0000865328" "00011803" "90" "428" "0" "428" "0" "c.428dup" "r.(?)" "p.(Gly144Argfs*18)" "" "0000865328" "00025253" "90" "428" "0" "428" "0" "c.428dup" "r.(?)" "p.(Gly144Argfs*18)" "" "0000865329" "00011803" "50" "11304" "0" "11304" "0" "c.*9027A>G" "r.(=)" "p.(=)" "" "0000865329" "00025253" "50" "11358" "0" "11358" "0" "c.*9027A>G" "r.(=)" "p.(=)" "" "0000893982" "00011803" "30" "1405" "0" "1405" "0" "c.1405G>A" "r.(?)" "p.(Ala469Thr)" "" "0000893982" "00025253" "30" "1405" "0" "1405" "0" "c.1405G>A" "r.(?)" "p.(Ala469Thr)" "" "0000893983" "00011803" "50" "9733" "0" "9733" "0" "c.*7456G>A" "r.(=)" "p.(=)" "" "0000893983" "00025253" "50" "9787" "0" "9787" "0" "c.*7456G>A" "r.(=)" "p.(=)" "" "0000893984" "00011803" "50" "9790" "0" "9790" "0" "c.*7513C>T" "r.(=)" "p.(=)" "" "0000893984" "00025253" "50" "9844" "0" "9844" "0" "c.*7513C>T" "r.(=)" "p.(=)" "" "0000914870" "00011803" "10" "374" "-52" "374" "-52" "c.374-52G>A" "r.(=)" "p.(=)" "" "0000914870" "00025253" "10" "374" "-52" "374" "-52" "c.374-52G>A" "r.(=)" "p.(=)" "" "0000952603" "00011803" "90" "163" "0" "163" "0" "c.163G>A" "r.(?)" "p.(Gly55Arg)" "" "0000952603" "00025253" "90" "163" "0" "163" "0" "c.163G>A" "r.(?)" "p.(Gly55Arg)" "" "0000955370" "00011803" "90" "1804" "0" "1804" "0" "c.1804A>C" "r.(?)" "p.(Ser602Arg)" "" "0000955370" "00025253" "90" "1858" "0" "1858" "0" "c.1858A>C" "r.(?)" "p.(Ser620Arg)" "" "0000955378" "00011803" "90" "1788" "0" "1788" "0" "c.1788T>G" "r.(?)" "p.(Asn596Lys)" "" "0000955378" "00025253" "90" "1842" "0" "1842" "0" "c.1842T>G" "r.(?)" "p.(Asn614Lys)" "" "0000955412" "00011803" "90" "1788" "0" "1788" "0" "c.1788T>G" "r.(?)" "p.(Asn596Lys)" "" "0000955412" "00025253" "90" "1842" "0" "1842" "0" "c.1842T>G" "r.(?)" "p.(Asn614Lys)" "" "0000955413" "00011803" "70" "1902" "0" "1902" "0" "c.1902G>C" "r.(?)" "p.(Lys634Asn)" "" "0000955413" "00025253" "70" "1956" "0" "1956" "0" "c.1956G>C" "r.(?)" "p.(Lys652Asn)" "" "0000955419" "00011803" "90" "1843" "0" "1843" "0" "c.1843A>G" "r.(?)" "p.(Lys615Glu)" "11" "0000955419" "00025253" "90" "1897" "0" "1897" "0" "c.1897A>G" "r.(?)" "p.(Lys633Glu)" "11" "0000968980" "00011803" "50" "1405" "0" "1405" "0" "c.1405G>A" "r.(?)" "p.(Ala469Thr)" "" "0000968980" "00025253" "50" "1405" "0" "1405" "0" "c.1405G>A" "r.(?)" "p.(Ala469Thr)" "" "0000982560" "00011803" "50" "2061" "1" "2061" "1" "c.2061+1G>T" "r.spl?" "p.?" "" "0000982560" "00025253" "50" "2115" "1" "2115" "1" "c.2115+1G>T" "r.spl?" "p.?" "" "0000982561" "00011803" "50" "9733" "0" "9733" "0" "c.*7456G>A" "r.(=)" "p.(=)" "" "0000982561" "00025253" "50" "9787" "0" "9787" "0" "c.*7456G>A" "r.(=)" "p.(=)" "" "0000982562" "00011803" "30" "10382" "0" "10382" "0" "c.*8105C>T" "r.(=)" "p.(=)" "" "0000982562" "00025253" "30" "10436" "0" "10436" "0" "c.*8105C>T" "r.(=)" "p.(=)" "" "0001003337" "00011803" "30" "1405" "0" "1405" "0" "c.1405G>A" "r.(?)" "p.(Ala469Thr)" "" "0001003337" "00025253" "30" "1405" "0" "1405" "0" "c.1405G>A" "r.(?)" "p.(Ala469Thr)" "" "0001003338" "00011803" "10" "1666" "0" "1666" "0" "c.1666G>A" "r.(?)" "p.(Ala556Thr)" "" "0001003338" "00025253" "10" "1720" "0" "1720" "0" "c.1720G>A" "r.(?)" "p.(Ala574Thr)" "" "0001003339" "00011803" "30" "10359" "0" "10359" "0" "c.*8082C>T" "r.(=)" "p.(=)" "" "0001003339" "00025253" "30" "10413" "0" "10413" "0" "c.*8082C>T" "r.(=)" "p.(=)" "" "0001046645" "00011803" "50" "1507" "2367" "1507" "2367" "c.1507+2367C>A" "r.(=)" "p.(=)" "" "0001046645" "00025253" "50" "1537" "0" "1537" "0" "c.1537C>A" "r.(?)" "p.(Pro513Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 160 "{{screeningid}}" "{{variantid}}" "0000057160" "0000087448" "0000057161" "0000087449" "0000057163" "0000087451" "0000057164" "0000087452" "0000057165" "0000087453" "0000057166" "0000087454" "0000057167" "0000087455" "0000057168" "0000087456" "0000133630" "0000222874" "0000149753" "0000243209" "0000149754" "0000243210" "0000149755" "0000243211" "0000149756" "0000243212" "0000149757" "0000243213" "0000149758" "0000243214" "0000149759" "0000243215" "0000149760" "0000243216" "0000149761" "0000243217" "0000149762" "0000243218" "0000149763" "0000243219" "0000149764" "0000243220" "0000149765" "0000243221" "0000149766" "0000243222" "0000149767" "0000243226" "0000149768" "0000243224" "0000149769" "0000243227" "0000149770" "0000243229" "0000149771" "0000243228" "0000149772" "0000243231" "0000149773" "0000243232" "0000149774" "0000243233" "0000149775" "0000243234" "0000149776" "0000243235" "0000149777" "0000243237" "0000149778" "0000243238" "0000149779" "0000243240" "0000149780" "0000243241" "0000149781" "0000243243" "0000149782" "0000243244" "0000149783" "0000243245" "0000149784" "0000243246" "0000149785" "0000243247" "0000149786" "0000243248" "0000149787" "0000243249" "0000149788" "0000243250" "0000149789" "0000243252" "0000149790" "0000243254" "0000149791" "0000243255" "0000149792" "0000243256" "0000149793" "0000243257" "0000149794" "0000243258" "0000149795" "0000243263" "0000149796" "0000243264" "0000149797" "0000243265" "0000149798" "0000243266" "0000149799" "0000243267" "0000149800" "0000243268" "0000149801" "0000243269" "0000149802" "0000243270" "0000149803" "0000243271" "0000149804" "0000243272" "0000149805" "0000243273" "0000149806" "0000243274" "0000149807" "0000243275" "0000149808" "0000243276" "0000149809" "0000243277" "0000149810" "0000243278" "0000149811" "0000243279" "0000149812" "0000243280" "0000149813" "0000243281" "0000149814" "0000243282" "0000149815" "0000243283" "0000149816" "0000243284" "0000149817" "0000243285" "0000149818" "0000243286" "0000149819" "0000243295" "0000149820" "0000243296" "0000149821" "0000243298" "0000149822" "0000243299" "0000149823" "0000243300" "0000149824" "0000243301" "0000149825" "0000243302" "0000149826" "0000243303" "0000149827" "0000243304" "0000149828" "0000243305" "0000149829" "0000243306" "0000149830" "0000243307" "0000149831" "0000243308" "0000149832" "0000243309" "0000149833" "0000243310" "0000149834" "0000243311" "0000149835" "0000243312" "0000149836" "0000243313" "0000149837" "0000243314" "0000149838" "0000243315" "0000149839" "0000243316" "0000149840" "0000243317" "0000149841" "0000243318" "0000149842" "0000243319" "0000149843" "0000243320" "0000149844" "0000243321" "0000149845" "0000243322" "0000149846" "0000243323" "0000149847" "0000243330" "0000149849" "0000243324" "0000149850" "0000243259" "0000149851" "0000243331" "0000149864" "0000243341" "0000149865" "0000243342" "0000149866" "0000243223" "0000149867" "0000243287" "0000149868" "0000243288" "0000149869" "0000243325" "0000149870" "0000243343" "0000149872" "0000243242" "0000149883" "0000243230" "0000149884" "0000243354" "0000149900" "0000243297" "0000149901" "0000243358" "0000149902" "0000243359" "0000149903" "0000243360" "0000150031" "0000243289" "0000150032" "0000243290" "0000150040" "0000243236" "0000150052" "0000243552" "0000150063" "0000243570" "0000150095" "0000243225" "0000150096" "0000243592" "0000150105" "0000243599" "0000150136" "0000243326" "0000150165" "0000243239" "0000150174" "0000243291" "0000150175" "0000243292" "0000150176" "0000243293" "0000150212" "0000243251" "0000150213" "0000243260" "0000150214" "0000243253" "0000150234" "0000243294" "0000150235" "0000243697" "0000150253" "0000243707" "0000150268" "0000243261" "0000150269" "0000243262" "0000150298" "0000243327" "0000150337" "0000243593" "0000150496" "0000243328" "0000150538" "0000243329" "0000214697" "0000447050" "0000232359" "0000474691" "0000292931" "0000649620" "0000292932" "0000649621" "0000292933" "0000649622" "0000305715" "0000669403" "0000375632" "0000787514" "0000445569" "0000952603" "0000445607" "0000955419" "0000445629" "0000955370" "0000446944" "0000955378" "0000446964" "0000955412" "0000446965" "0000955413" "0000446966" "0000955419"