### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MUT) # 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}}" "MUT" "methylmalonyl CoA mutase" "6" "p21" "unknown" "LRG_220" "UD_132119125023" "" "https://www.LOVD.nl/MMUT" "" "1" "7526" "4594" "609058" "1" "1" "1" "1" "NOTE: gene name changed from MUT to MMUT\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/MUT_codingDNA.html" "1" "" "NOTE: gene name changed from MUT to MMUT" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2021-02-12 09:29:52" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00014092" "MUT" "methylmalonyl CoA mutase" "001" "NM_000255.3" "" "NP_000246.2" "" "" "" "-265" "3621" "2253" "49431041" "49398073" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01919" "aciduria" "aciduria, methylmalonic , mut(0) type" "AR" "251000" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-12-27 13:25:58" "02554" "metabolic syndrome" "metabolic syndrome" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-01-15 15:48:08" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "04282" "CVI" "cerebral visual impairment (CVI)" "" "" "" "" "" "00006" "2015-06-15 15:37:52" "00006" "2015-06-15 15:38:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MUT" "00139" "MUT" "01919" ## Individuals ## Do not remove or alter this header ## ## Count = 282 "{{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}}" "00039405" "" "" "" "1" "" "01158" "{PMID:Bosch 2016:26350515}, {DOI:Bosch 2016:10.1038/ejhg.2015.186}" "" "F" "no" "Netherlands" "" "0" "" "" "" "" "00181043" "" "" "" "1" "" "02568" "" "" "" "" "" "" "" "" "" "" "" "00181045" "" "" "" "1" "" "02568" "" "" "" "" "" "" "" "" "" "" "" "00229630" "" "" "" "1" "" "00566" "" "" "M" "yes" "Egypt" "" "0" "" "" "Egyptian" "" "00229631" "" "" "" "1" "" "00566" "" "" "F" "yes" "Egypt" "" "0" "" "" "Egyptian" "" "00229632" "" "" "" "1" "" "00566" "" "" "M" "yes" "Egypt" "" "0" "" "" "Egyptian" "" "00229633" "" "" "" "1" "" "00566" "" "" "M" "yes" "Egypt" "" "0" "" "" "Egyptian" "" "00294129" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294130" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294131" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294132" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294133" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294134" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305929" "" "" "" "1" "" "03695" "" "" "M" "" "China" "" "0" "" "" "" "27" "00438291" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat9" "00444602" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "3m" "0" "" "" "" "PatNBS1" "00444603" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "1y4m15d" "0" "" "" "" "PatNBS2" "00444604" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "3m" "0" "" "" "" "PatNBS3" "00444605" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "" "0" "" "" "" "PatNBS4" "00444606" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "<8m" "0" "" "" "" "PatNBS5" "00444607" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "" "0" "" "" "" "PatNBS6" "00444608" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "2y" "0" "" "" "" "PatNBS7" "00444609" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "4y" "0" "" "" "" "PatNBS8" "00444610" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "7d" "0" "" "" "" "PatNBS9" "00444611" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "7d" "0" "" "" "" "PatNBS10" "00444612" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "1y" "0" "" "" "" "PatNBS11" "00444613" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "11d" "0" "" "" "" "PatNBS12" "00444614" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "1y2m" "0" "" "" "" "PatNBS13" "00444615" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "6d" "0" "" "" "" "PatNBS14" "00444616" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "10d" "0" "" "" "" "PatNBS15" "00444617" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "1m" "0" "" "" "" "PatNBS16" "00444618" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "7d" "0" "" "" "" "PatNBS17" "00444619" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "9d" "0" "" "" "" "PatNBS18" "00444620" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "4y4m" "0" "" "" "" "PatNBS19" "00444621" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "10d" "0" "" "" "" "PatNBS20" "00444622" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "01y-03y" "0" "" "" "" "PatNBS21" "00444623" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "1m" "0" "" "" "" "Pat1" "00444624" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "21d" "0" "" "" "" "Pat2" "00444625" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "5m" "0" "" "" "" "Pat3" "00444626" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "2m" "0" "" "" "" "Pat4" "00444627" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "<14m" "0" "" "" "" "Pat5" "00444628" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "11y" "0" "" "" "" "Pat6" "00444629" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "2y6m" "0" "" "" "" "Pat7" "00444630" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "10y" "0" "" "" "" "Pat8" "00444631" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "1m" "0" "" "" "" "Pat9" "00444632" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "6d" "0" "" "" "" "Pat10" "00444633" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "" "0" "" "" "" "Pat11" "00444634" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "" "0" "" "" "" "Pat12" "00444635" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "4m" "0" "" "" "" "Pat13" "00444636" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "6y" "0" "" "" "" "Pat14" "00444637" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "7d" "0" "" "" "" "Pat15" "00444638" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "12d" "0" "" "" "" "Pat16" "00444639" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "<10y" "0" "" "" "" "Pat17" "00444640" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "" "0" "" "" "" "Pat18" "00444641" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "2y" "0" "" "" "" "Pat19" "00444642" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "<9y" "0" "" "" "" "Pat20" "00444643" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "1y" "0" "" "" "" "Pat21" "00444644" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "" "0" "" "" "" "Pat22" "00444645" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "3y" "0" "" "" "" "Pat23" "00444646" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "<16m" "0" "" "" "" "Pat24" "00444647" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "1y" "0" "" "" "" "Pat25" "00444648" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "6y" "0" "" "" "" "Pat26" "00444649" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "4y" "0" "" "" "" "Pat27" "00444650" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "3d" "0" "" "" "" "Pat28" "00444651" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "4y" "0" "" "" "" "Pat29" "00444652" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "1y" "0" "" "" "" "Pat30" "00444653" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "13d" "0" "" "" "" "Pat31" "00444654" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "" "0" "" "" "" "Pat32" "00444655" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "1y6m" "0" "" "" "" "Pat33" "00444656" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "1y10m" "0" "" "" "" "Pat34" "00444657" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "5d" "0" "" "" "" "Pat35" "00444658" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "8d" "0" "" "" "" "Pat36" "00444659" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "27d" "0" "" "" "" "Pat37" "00444660" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "1m" "0" "" "" "" "Pat38" "00444661" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "1y6m15d" "0" "" "" "" "Pat39" "00444662" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "5d" "0" "" "" "" "Pat40" "00444663" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "13d" "0" "" "" "" "Pat41" "00444664" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "<6y" "0" "" "" "" "Pat42" "00444665" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "4y" "0" "" "" "" "Pat43" "00444666" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "1y" "0" "" "" "" "Pat44" "00444667" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "6d" "0" "" "" "" "Pat45" "00444668" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "6y" "0" "" "" "" "Pat46" "00444669" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "7d" "0" "" "" "" "Pat47" "00444670" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "7d" "0" "" "" "" "Pat48" "00444671" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "8d" "0" "" "" "" "Pat49" "00444672" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "1y" "0" "" "" "" "Pat50" "00444673" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "3d" "0" "" "" "" "Pat51" "00444674" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "5d" "0" "" "" "" "Pat52" "00444675" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "5d" "0" "" "" "" "Pat53" "00444676" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "17d" "0" "" "" "" "Pat54" "00444677" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "<5m" "0" "" "" "" "Pat55" "00444678" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "<30m" "0" "" "" "" "Pat56" "00444679" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "4d" "0" "" "" "" "Pat57" "00444680" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "10d" "0" "" "" "" "Pat58" "00444681" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "5d" "0" "" "" "" "Pat59" "00444682" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "10d" "0" "" "" "" "Pat60" "00444683" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "1y7m" "0" "" "" "" "Pat61" "00444684" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "13d" "0" "" "" "" "Pat62" "00444685" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "5y" "0" "" "" "" "Pat63" "00444686" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "5d" "0" "" "" "" "Pat64" "00444687" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "12d" "0" "" "" "" "Pat65" "00444688" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "4d" "0" "" "" "" "Pat66" "00444689" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "1y" "0" "" "" "" "Pat67" "00444690" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "2y" "0" "" "" "" "Pat68" "00444691" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "patient" "" "" "China" "5y5m" "0" "" "" "" "Pat69" "00444692" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444693" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444694" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444695" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444696" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444697" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444698" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444699" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444700" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444701" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444702" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444703" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444704" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444705" "" "" "" "16" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444706" "" "" "" "9" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444707" "" "" "" "15" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444708" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444709" "" "" "" "9" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444710" "" "" "" "35" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444711" "" "" "" "35" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444712" "" "" "" "45" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444713" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444714" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444715" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444716" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444717" "" "" "" "3" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444718" "" "" "" "2" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444719" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444720" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444721" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444722" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444723" "" "" "" "6" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444724" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444725" "" "" "" "4" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444726" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444727" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444728" "" "" "" "2" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444729" "" "" "" "2" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444730" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444731" "" "" "" "2" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444732" "" "" "" "2" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444733" "" "" "" "4" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444734" "" "" "" "2" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444735" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444736" "" "" "" "2" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444737" "" "" "" "2" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444738" "" "" "" "2" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444739" "" "" "" "4" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444740" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444741" "" "" "" "2" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444742" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444743" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444744" "" "" "" "6" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444745" "" "" "" "2" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444746" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444747" "" "" "" "3" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444748" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444749" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444750" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444751" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444752" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444753" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444754" "" "" "" "2" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444755" "" "" "" "7" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444756" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444757" "" "" "" "2" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444758" "" "" "" "3" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444759" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444760" "" "" "" "2" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444761" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444762" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444763" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444764" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444765" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444766" "" "" "" "3" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444767" "" "" "" "4" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444768" "" "" "" "17" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444769" "" "" "" "2" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444770" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444771" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444772" "" "" "" "2" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444773" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444774" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444775" "" "" "" "21" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444776" "" "" "" "6" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444777" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444778" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444779" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444780" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444781" "" "" "" "2" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444782" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444783" "" "" "" "2" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444784" "" "" "" "2" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444785" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444786" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444787" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444788" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444789" "" "" "" "2" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444790" "" "" "" "31" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444791" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444792" "" "" "" "2" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444793" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444794" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444795" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444796" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444797" "" "" "" "3" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444798" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444799" "" "" "" "2" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444800" "" "" "" "2" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444801" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444802" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444803" "" "" "" "4" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444804" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444805" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444806" "" "" "" "2" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444807" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444808" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444809" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444810" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444811" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444812" "" "" "" "5" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444813" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444814" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444815" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444816" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444817" "" "" "" "5" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444818" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444819" "" "" "" "32" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444820" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444821" "" "" "" "15" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444822" "" "" "" "4" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444823" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444824" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444825" "" "" "" "10" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444826" "" "" "" "2" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444827" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444828" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444829" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444830" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444831" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444832" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444833" "" "" "" "5" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444834" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444835" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444836" "" "" "" "5" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444837" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444838" "" "" "" "5" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444839" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444840" "" "" "" "3" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444841" "" "" "" "3" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444842" "" "" "" "3" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444843" "" "" "" "13" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444844" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444845" "" "" "" "2" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444846" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444847" "" "" "" "6" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444848" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444849" "" "" "" "2" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444850" "" "" "" "4" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444851" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444852" "" "" "" "2" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444853" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444854" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444855" "" "" "" "1" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00444856" "" "" "" "2" "" "00006" "{PMID:Liang 2023:37316190}" "analysis 365 patients, combination alleles not reported" "" "" "China" "" "0" "" "" "" "" "00452197" "" "" "" "3" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452198" "" "" "" "2" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452199" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452200" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452201" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452202" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452203" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452204" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452205" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452206" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00453637" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat53" "00453638" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat54" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 283 "{{individualid}}" "{{diseaseid}}" "00039405" "00139" "00039405" "04282" "00181043" "01919" "00181045" "01919" "00229630" "01919" "00229631" "01919" "00229632" "01919" "00229633" "01919" "00294129" "00198" "00294130" "00198" "00294131" "00198" "00294132" "00198" "00294133" "00198" "00294134" "00198" "00305929" "00198" "00438291" "04270" "00444602" "01919" "00444603" "01919" "00444604" "01919" "00444605" "01919" "00444606" "01919" "00444607" "01919" "00444608" "01919" "00444609" "01919" "00444610" "01919" "00444611" "01919" "00444612" "01919" "00444613" "01919" "00444614" "01919" "00444615" "01919" "00444616" "01919" "00444617" "01919" "00444618" "01919" "00444619" "01919" "00444620" "01919" "00444621" "01919" "00444622" "01919" "00444623" "01919" "00444624" "01919" "00444625" "01919" "00444626" "01919" "00444627" "01919" "00444628" "01919" "00444629" "01919" "00444630" "01919" "00444631" "01919" "00444632" "01919" "00444633" "01919" "00444634" "01919" "00444635" "01919" "00444636" "01919" "00444637" "01919" "00444638" "01919" "00444639" "01919" "00444640" "01919" "00444641" "01919" "00444642" "01919" "00444643" "01919" "00444644" "01919" "00444645" "01919" "00444646" "01919" "00444647" "01919" "00444648" "01919" "00444649" "01919" "00444650" "01919" "00444651" "01919" "00444652" "01919" "00444653" "01919" "00444654" "01919" "00444655" "01919" "00444656" "01919" "00444657" "01919" "00444658" "01919" "00444659" "01919" "00444660" "01919" "00444661" "01919" "00444662" "01919" "00444663" "01919" "00444664" "01919" "00444665" "01919" "00444666" "01919" "00444667" "01919" "00444668" "01919" "00444669" "01919" "00444670" "01919" "00444671" "01919" "00444672" "01919" "00444673" "01919" "00444674" "01919" "00444675" "01919" "00444676" "01919" "00444677" "01919" "00444678" "01919" "00444679" "01919" "00444680" "01919" "00444681" "01919" "00444682" "01919" "00444683" "01919" "00444684" "01919" "00444685" "01919" "00444686" "01919" "00444687" "01919" "00444688" "01919" "00444689" "01919" "00444690" "01919" "00444691" "01919" "00444692" "01919" "00444693" "01919" "00444694" "01919" "00444695" "01919" "00444696" "01919" "00444697" "01919" "00444698" "01919" "00444699" "01919" "00444700" "01919" "00444701" "01919" "00444702" "01919" "00444703" "01919" "00444704" "01919" "00444705" "01919" "00444706" "01919" "00444707" "01919" "00444708" "01919" "00444709" "01919" "00444710" "01919" "00444711" "01919" "00444712" "01919" "00444713" "01919" "00444714" "01919" "00444715" "01919" "00444716" "01919" "00444717" "01919" "00444718" "01919" "00444719" "01919" "00444720" "01919" "00444721" "01919" "00444722" "01919" "00444723" "01919" "00444724" "01919" "00444725" "01919" "00444726" "01919" "00444727" "01919" "00444728" "01919" "00444729" "01919" "00444730" "01919" "00444731" "01919" "00444732" "01919" "00444733" "01919" "00444734" "01919" "00444735" "01919" "00444736" "01919" "00444737" "01919" "00444738" "01919" "00444739" "01919" "00444740" "01919" "00444741" "01919" "00444742" "01919" "00444743" "01919" "00444744" "01919" "00444745" "01919" "00444746" "01919" "00444747" "01919" "00444748" "01919" "00444749" "01919" "00444750" "01919" "00444751" "01919" "00444752" "01919" "00444753" "01919" "00444754" "01919" "00444755" "01919" "00444756" "01919" "00444757" "01919" "00444758" "01919" "00444759" "01919" "00444760" "01919" "00444761" "01919" "00444762" "01919" "00444763" "01919" "00444764" "01919" "00444765" "01919" "00444766" "01919" "00444767" "01919" "00444768" "01919" "00444769" "01919" "00444770" "01919" "00444771" "01919" "00444772" "01919" "00444773" "01919" "00444774" "01919" "00444775" "01919" "00444776" "01919" "00444777" "01919" "00444778" "01919" "00444779" "01919" "00444780" "01919" "00444781" "01919" "00444782" "01919" "00444783" "01919" "00444784" "01919" "00444785" "01919" "00444786" "01919" "00444787" "01919" "00444788" "01919" "00444789" "01919" "00444790" "01919" "00444791" "01919" "00444792" "01919" "00444793" "01919" "00444794" "01919" "00444795" "01919" "00444796" "01919" "00444797" "01919" "00444798" "01919" "00444799" "01919" "00444800" "01919" "00444801" "01919" "00444802" "01919" "00444803" "01919" "00444804" "01919" "00444805" "01919" "00444806" "01919" "00444807" "01919" "00444808" "01919" "00444809" "01919" "00444810" "01919" "00444811" "01919" "00444812" "01919" "00444813" "01919" "00444814" "01919" "00444815" "01919" "00444816" "01919" "00444817" "01919" "00444818" "01919" "00444819" "01919" "00444820" "01919" "00444821" "01919" "00444822" "01919" "00444823" "01919" "00444824" "01919" "00444825" "01919" "00444826" "01919" "00444827" "01919" "00444828" "01919" "00444829" "01919" "00444830" "01919" "00444831" "01919" "00444832" "01919" "00444833" "01919" "00444834" "01919" "00444835" "01919" "00444836" "01919" "00444837" "01919" "00444838" "01919" "00444839" "01919" "00444840" "01919" "00444841" "01919" "00444842" "01919" "00444843" "01919" "00444844" "01919" "00444845" "01919" "00444846" "01919" "00444847" "01919" "00444848" "01919" "00444849" "01919" "00444850" "01919" "00444851" "01919" "00444852" "01919" "00444853" "01919" "00444854" "01919" "00444855" "01919" "00444856" "01919" "00452197" "00198" "00452198" "00198" "00452199" "00198" "00452200" "00198" "00452201" "00198" "00452202" "00198" "00452203" "00198" "00452204" "00198" "00452205" "00198" "00452206" "00198" "00453637" "02554" "00453638" "02554" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 01919, 02554, 04270, 04282 ## Count = 276 "{{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}}" "0000078838" "04282" "00039405" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000143295" "01919" "00181043" "02568" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000143297" "01919" "00181045" "02568" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000172862" "01919" "00229630" "00566" "Familial, autosomal recessive" "" "" "4m" "7m" "" "" "" "" "" "" "" "" "" "0000172863" "01919" "00229631" "00566" "Familial, autosomal recessive" "" "" "10m" "49m" "" "" "" "" "" "" "" "" "" "0000172864" "01919" "00229632" "00566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000172865" "01919" "00229633" "00566" "Familial, autosomal recessive" "" "" "1m" "1m" "" "" "" "" "" "" "" "" "" "0000231777" "00198" "00305929" "03695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "methylmalonic aciduria, mut(0) type" "methylmalonic aciduria, mut(0) type" "" "0000328195" "04270" "00438291" "00006" "Familial, autosomal recessive" "" "HP:0001250 seizures; HP:0002094 dyspnea; HP:0000951 abnormality of the skin; HP:0001252 muscular hypotonia; HP:0004323 abnormality of body weight; HP:0002090 pneumonia; HP:0002912 methylmalonic acidemia; HP:0001298 encephalopathy; HP:0001942 metabolic acidosis; HP:0003074 hyperglycemia; HP:0002170 intracranial hemorrhage" "40d" "" "" "" "" "" "" "" "" "epilepsy" "" "0000333854" "01919" "00444602" "00006" "Familial, autosomal recessive" "3m" "newborn screening performed; 3m-deceased acute metabolic acidosis, respiratory failure, circulatory failure; hydroxoc-obalamin treatment effective" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333855" "01919" "00444603" "00006" "Familial, autosomal recessive" "1y4m15d" "newborn screening performed; 1y4m15d-deceased infection-induced acute metabolic acidosis, respiratory failure; hydroxoc-obalamin treatment effective" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333856" "01919" "00444604" "00006" "Familial, autosomal recessive" "3m" "newborn screening performed; 3m-deceased acute metabolic acidosis, respiratory failure, circulatory failure; hydroxoc-obalamin treatment not effective" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333857" "01919" "00444605" "00006" "Familial, autosomal recessive" "" "newborn screening performed; deceased, cause unknown" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333858" "01919" "00444606" "00006" "Familial, autosomal recessive" "<8m" "newborn screening performed; <8m-deceased deceased, cause unknown; hydroxoc-obalamin treatment not effective" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333859" "01919" "00444607" "00006" "Familial, autosomal recessive" "" "newborn screening performed; deceased, cause unknown" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333860" "01919" "00444608" "00006" "Familial, autosomal recessive" "2y" "newborn screening performed; 2y-deceased infection-induced acute metabolic acidosis; hydroxoc-obalamin treatment effective" "3m" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333861" "01919" "00444609" "00006" "Familial, autosomal recessive" "4y" "newborn screening performed; 4y-deceased infection-induced acute metabolic acidosis, respiratory failure; hydroxoc-obalamin treatment not effective" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333862" "01919" "00444610" "00006" "Familial, autosomal recessive" "7d" "newborn screening performed; 7d-deceased acute metabolic acidosis, multiple organ failure" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333863" "01919" "00444611" "00006" "Familial, autosomal recessive" "7d" "newborn screening performed; 7d-deceased acute metabolic acidosis" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333864" "01919" "00444612" "00006" "Familial, autosomal recessive" "1y" "newborn screening performed; 1y-deceased infection-induced acute metabolic acidosis; hydroxoc-obalamin treatment not effective" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333865" "01919" "00444613" "00006" "Familial, autosomal recessive" "11d" "newborn screening performed; 11d-deceased acute metabolic acidosis, multiple organ failure" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333866" "01919" "00444614" "00006" "Familial, autosomal recessive" "1y2m" "newborn screening performed; 1y2m-deceased acute metabolic acidosis; hydroxoc-obalamin treatment not effective" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333867" "01919" "00444615" "00006" "Familial, autosomal recessive" "6d" "newborn screening performed; 6d-deceased acute metabolic acidosis" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333868" "01919" "00444616" "00006" "Familial, autosomal recessive" "10d" "newborn screening performed; 10d-deceased acute metabolic acidosis" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333869" "01919" "00444617" "00006" "Familial, autosomal recessive" "1m" "newborn screening performed; 1m-deceased infection-induced acute metabolic acidosis" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333870" "01919" "00444618" "00006" "Familial, autosomal recessive" "7d" "newborn screening performed; 7d-deceased acute metabolic acidosis" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333871" "01919" "00444619" "00006" "Familial, autosomal recessive" "9d" "newborn screening performed; 9d-deceased acute metabolic acidosis" "7d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333872" "01919" "00444620" "00006" "Familial, autosomal recessive" "4y4m" "newborn screening performed; 4y4m-deceased infection-induced acute metabolic acidosis, anemia; hydroxoc-obalamin treatment not effective" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333873" "01919" "00444621" "00006" "Familial, autosomal recessive" "10d" "newborn screening performed; 10d-deceased acute metabolic acidosis" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333874" "01919" "00444622" "00006" "Familial, autosomal recessive" "01y-03y" "newborn screening performed; 01y-03y-deceased deceased, cause unknown; hydroxoc-obalamin treatment not effective" "9d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333875" "01919" "00444623" "00006" "Familial, autosomal recessive" "1m" "no newborn screening performed; 1m-deceased infection-induced acute metabolic acidosis, respiratory failure; hydroxoc-obalamin treatment effective" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333876" "01919" "00444624" "00006" "Familial, autosomal recessive" "21d" "no newborn screening performed; 21d-deceased acute metabolic acidosis" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333877" "01919" "00444625" "00006" "Familial, autosomal recessive" "5m" "no newborn screening performed; 5m-deceased infection-induced acute metabolic acidosis, respiratory failure; hydroxoc-obalamin treatment not effective" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333878" "01919" "00444626" "00006" "Familial, autosomal recessive" "2m" "no newborn screening performed; 2m-deceased acute metabolic acidosis" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333879" "01919" "00444627" "00006" "Familial, autosomal recessive" "<14m" "no newborn screening performed; <14m-deceased deceased, cause unknown; hydroxoc-obalamin treatment not effective" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333880" "01919" "00444628" "00006" "Familial, autosomal recessive" "11y" "no newborn screening performed; 11y-deceased infection-induced acute metabolic acidosis; hydroxoc-obalamin treatment effective" "1y7m" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333881" "01919" "00444629" "00006" "Familial, autosomal recessive" "2y6m" "no newborn screening performed; 2y6m-deceased infection-induced acute metabolic acidosis; hydroxoc-obalamin treatment not effective" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333882" "01919" "00444630" "00006" "Familial, autosomal recessive" "10y" "no newborn screening performed; 10y-deceased infection-induced acute metabolic acidosis, respiratory failure; hydroxoc-obalamin treatment not effective" "1y5m" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333883" "01919" "00444631" "00006" "Familial, autosomal recessive" "1m" "no newborn screening performed; 1m-deceased infection-induced acute metabolic acidosis" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333884" "01919" "00444632" "00006" "Familial, autosomal recessive" "6d" "no newborn screening performed; 6d-deceased acute metabolic acidosis, multiple organ failure" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333885" "01919" "00444633" "00006" "Familial, autosomal recessive" "" "no newborn screening performed; deceased, cause unknown" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333886" "01919" "00444634" "00006" "Familial, autosomal recessive" "" "no newborn screening performed; deceased, cause unknown" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333887" "01919" "00444635" "00006" "Familial, autosomal recessive" "4m" "no newborn screening performed; 4m-deceased infection-induced acute metabolic acidosis, respiratory failure; hydroxoc-obalamin treatment not effective" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333888" "01919" "00444636" "00006" "Familial, autosomal recessive" "6y" "no newborn screening performed; 6y-deceased infection-induced acute metabolic acidosis, respiratory failure" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333889" "01919" "00444637" "00006" "Familial, autosomal recessive" "7d" "no newborn screening performed; 7d-deceased acute metabolic acidosis, multiple organ failure" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333890" "01919" "00444638" "00006" "Familial, autosomal recessive" "12d" "no newborn screening performed; 12d-deceased infection-induced acute metabolic acidosis, respiratory failure" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333891" "01919" "00444639" "00006" "Familial, autosomal recessive" "<10y" "no newborn screening performed; <10y-deceased deceased, cause unknown; hydroxoc-obalamin treatment not effective" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333892" "01919" "00444640" "00006" "Familial, autosomal recessive" "" "no newborn screening performed; deceased, cause unknown" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333893" "01919" "00444641" "00006" "Familial, autosomal recessive" "2y" "no newborn screening performed; 2y-deceased infection-induced acute metabolic acidosis, respiratory failure; hydroxoc-obalamin treatment not effective" "21d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333894" "01919" "00444642" "00006" "Familial, autosomal recessive" "<9y" "no newborn screening performed; <9y-deceased deceased, cause unknown; hydroxoc-obalamin treatment not effective" "5m" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333895" "01919" "00444643" "00006" "Familial, autosomal recessive" "1y" "no newborn screening performed; 1y-deceased infection-induced acute metabolic acidosis, respiratory failure; hydroxoc-obalamin treatment effective" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333896" "01919" "00444644" "00006" "Familial, autosomal recessive" "" "no newborn screening performed; deceased, cause unknown" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333897" "01919" "00444645" "00006" "Familial, autosomal recessive" "3y" "no newborn screening performed; 3y-deceased infection-induced acute metabolic acidosis, respiratory failure; hydroxoc-obalamin treatment not effective" "7d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333898" "01919" "00444646" "00006" "Familial, autosomal recessive" "<16m" "no newborn screening performed; <16m-deceased deceased, cause unknown" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333899" "01919" "00444647" "00006" "Familial, autosomal recessive" "1y" "no newborn screening performed; 1y-deceased infection-induced acute metabolic acidosis, respiratory failure; hydroxoc-obalamin treatment not effective" "1m" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333900" "01919" "00444648" "00006" "Familial, autosomal recessive" "6y" "no newborn screening performed; 6y-deceased infection-induced acute metabolic acidosis, respiratory failure; hydroxoc-obalamin treatment not effective" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333901" "01919" "00444649" "00006" "Familial, autosomal recessive" "4y" "no newborn screening performed; 4y-deceased infection-induced acute metabolic acidosis; hydroxoc-obalamin treatment not effective" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333902" "01919" "00444650" "00006" "Familial, autosomal recessive" "3d" "no newborn screening performed; 3d-deceased acute metabolic acidosis, multiple organ failure" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333903" "01919" "00444651" "00006" "Familial, autosomal recessive" "4y" "no newborn screening performed; 4y-deceased infection-induced acute metabolic acidosis, respiratory failure; hydroxoc-obalamin treatment not effective" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333904" "01919" "00444652" "00006" "Familial, autosomal recessive" "1y" "no newborn screening performed; 1y-deceased infection-induced acute metabolic acidosis; hydroxoc-obalamin treatment not effective" "4m" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333905" "01919" "00444653" "00006" "Familial, autosomal recessive" "13d" "no newborn screening performed; 13d-deceased acute metabolic acidosis, respiratory failure; hydroxoc-obalamin treatment not effective" "7d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333906" "01919" "00444654" "00006" "Familial, autosomal recessive" "" "no newborn screening performed; deceased, cause unknown" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333907" "01919" "00444655" "00006" "Familial, autosomal recessive" "1y6m" "no newborn screening performed; 1y6m-deceased infection-induced acute metabolic acidosis, respiratory failure; hydroxoc-obalamin treatment not effective" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333908" "01919" "00444656" "00006" "Familial, autosomal recessive" "1y10m" "no newborn screening performed; 1y10m-deceased infection-induced acute metabolic acidosis, respiratory failure" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333909" "01919" "00444657" "00006" "Familial, autosomal recessive" "5d" "no newborn screening performed; 5d-deceased acute metabolic acidosis, respiratory failure" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333910" "01919" "00444658" "00006" "Familial, autosomal recessive" "8d" "no newborn screening performed; 8d-deceased acute metabolic acidosis, respiratory failure" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333911" "01919" "00444659" "00006" "Familial, autosomal recessive" "27d" "no newborn screening performed; 27d-deceased infection-induced acute metabolic acidosis, respiratory failure" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333912" "01919" "00444660" "00006" "Familial, autosomal recessive" "1m" "no newborn screening performed; 1m-deceased infection-induced acute metabolic acidosis, respiratory failure" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333913" "01919" "00444661" "00006" "Familial, autosomal recessive" "1y6m15d" "no newborn screening performed; 1y6m15d-deceased infection-induced acute metabolic acidosis, respiratory failure; hydroxoc-obalamin treatment effective" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333914" "01919" "00444662" "00006" "Familial, autosomal recessive" "5d" "no newborn screening performed; 5d-deceased acute metabolic acidosis, respiratory failure" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333915" "01919" "00444663" "00006" "Familial, autosomal recessive" "13d" "no newborn screening performed; 13d-deceased acute metabolic acidosis, respiratory failure, circulatory failure" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333916" "01919" "00444664" "00006" "Familial, autosomal recessive" "<6y" "no newborn screening performed; <6y-deceased acute metabolic acidosis, liver function impairment, multiple organ failure; hydroxoc-obalamin treatment not effective" "3m" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333917" "01919" "00444665" "00006" "Familial, autosomal recessive" "4y" "no newborn screening performed; 4y-deceased infection-induced acute metabolic acidosis, respiratory failure; hydroxoc-obalamin treatment not effective" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333918" "01919" "00444666" "00006" "Familial, autosomal recessive" "1y" "no newborn screening performed; 1y-deceased infection-induced acute metabolic acidosis, respiratory failure; hydroxoc-obalamin treatment not effective" "7d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333919" "01919" "00444667" "00006" "Familial, autosomal recessive" "6d" "no newborn screening performed; 6d-deceased acute metabolic acidosis, respiratory failure, circulatory failure" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333920" "01919" "00444668" "00006" "Familial, autosomal recessive" "6y" "no newborn screening performed; 6y-deceased infection-induced acute metabolic acidosis, respiratory failure; hydroxoc-obalamin treatment not effective" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333921" "01919" "00444669" "00006" "Familial, autosomal recessive" "7d" "no newborn screening performed; 7d-deceased acute metabolic acidosis, respiratory failure, circulatory failure" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333922" "01919" "00444670" "00006" "Familial, autosomal recessive" "7d" "no newborn screening performed; 7d-deceased acute metabolic acidosis, multiple organ failure" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333923" "01919" "00444671" "00006" "Familial, autosomal recessive" "8d" "no newborn screening performed; 8d-deceased acute metabolic acidosis, respiratory failure" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333924" "01919" "00444672" "00006" "Familial, autosomal recessive" "1y" "no newborn screening performed; 1y-deceased infection-induced acute metabolic acidosis, respiratory failure; hydroxoc-obalamin treatment not effective" "1m" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333925" "01919" "00444673" "00006" "Familial, autosomal recessive" "3d" "no newborn screening performed; 3d-deceased acute metabolic acidosis, respiratory failure, circulatory failure" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333926" "01919" "00444674" "00006" "Familial, autosomal recessive" "5d" "no newborn screening performed; 5d-deceased acute metabolic acidosis, respiratory failure, circulatory failure" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333927" "01919" "00444675" "00006" "Familial, autosomal recessive" "5d" "no newborn screening performed; 5d-deceased acute metabolic acidosis, respiratory failure" "7d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333928" "01919" "00444676" "00006" "Familial, autosomal recessive" "17d" "no newborn screening performed; 17d-deceased acute metabolic acidosis, respiratory failure" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333929" "01919" "00444677" "00006" "Familial, autosomal recessive" "<5m" "no newborn screening performed; <5m-deceased deceased, cause unknown; hydroxoc-obalamin treatment not effective" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333930" "01919" "00444678" "00006" "Familial, autosomal recessive" "<30m" "no newborn screening performed; <30m-deceased deceased, cause unknown" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333931" "01919" "00444679" "00006" "Familial, autosomal recessive" "4d" "no newborn screening performed; 4d-deceased acute metabolic acidosis, multiple organ failure" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333932" "01919" "00444680" "00006" "Familial, autosomal recessive" "10d" "no newborn screening performed; 10d-deceased acute metabolic acidosis, respiratory failure" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333933" "01919" "00444681" "00006" "Familial, autosomal recessive" "5d" "no newborn screening performed; 5d-deceased acute metabolic acidosis, respiratory failure" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333934" "01919" "00444682" "00006" "Familial, autosomal recessive" "10d" "no newborn screening performed; 10d-deceased acute metabolic acidosis, respiratory failure" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333935" "01919" "00444683" "00006" "Familial, autosomal recessive" "1y7m" "no newborn screening performed; 1y7m-deceased infection-induced acute metabolic acidosis, respiratory failure" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333936" "01919" "00444684" "00006" "Familial, autosomal recessive" "13d" "no newborn screening performed; 13d-deceased acute metabolic acidosis, respiratory failure" "7d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333937" "01919" "00444685" "00006" "Familial, autosomal recessive" "5y" "no newborn screening performed; 5y-deceased infection-induced acute metabolic acidosis, respiratory failure; hydroxoc-obalamin treatment not effective" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333938" "01919" "00444686" "00006" "Familial, autosomal recessive" "5d" "no newborn screening performed; 5d-deceased acute metabolic acidosis, respiratory failure" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333939" "01919" "00444687" "00006" "Familial, autosomal recessive" "12d" "no newborn screening performed; 12d-deceased acute metabolic acidosis, respiratory failure" "3d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333940" "01919" "00444688" "00006" "Familial, autosomal recessive" "4d" "no newborn screening performed; 4d-deceased acute metabolic acidosis, respiratory failure, circulatory failure" "7d" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333941" "01919" "00444689" "00006" "Familial, autosomal recessive" "1y" "no newborn screening performed; 1y-deceased acute metabolic acidosis, respiratory failure, circulatory failure" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333942" "01919" "00444690" "00006" "Familial, autosomal recessive" "2y" "no newborn screening performed; 2y-deceased infection-induced acute metabolic acidosis, respiratory failure; hydroxoc-obalamin treatment effective" "1y" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333943" "01919" "00444691" "00006" "Familial, autosomal recessive" "5y5m" "no newborn screening performed; 5y5m-deceased infection-induced acute metabolic acidosis, renal failure, multiple organ failure; hydroxoc-obalamin treatment not effective" "1y" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333944" "01919" "00444692" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333945" "01919" "00444693" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333946" "01919" "00444694" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333947" "01919" "00444695" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333948" "01919" "00444696" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333949" "01919" "00444697" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333950" "01919" "00444698" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333951" "01919" "00444699" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333952" "01919" "00444700" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333953" "01919" "00444701" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333954" "01919" "00444702" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333955" "01919" "00444703" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333956" "01919" "00444704" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333957" "01919" "00444705" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333958" "01919" "00444706" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333959" "01919" "00444707" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333960" "01919" "00444708" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333961" "01919" "00444709" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333962" "01919" "00444710" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333963" "01919" "00444711" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333964" "01919" "00444712" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333965" "01919" "00444713" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333966" "01919" "00444714" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333967" "01919" "00444715" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333968" "01919" "00444716" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333969" "01919" "00444717" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333970" "01919" "00444718" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333971" "01919" "00444719" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333972" "01919" "00444720" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333973" "01919" "00444721" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333974" "01919" "00444722" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333975" "01919" "00444723" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333976" "01919" "00444724" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333977" "01919" "00444725" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333978" "01919" "00444726" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333979" "01919" "00444727" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333980" "01919" "00444728" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333981" "01919" "00444729" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333982" "01919" "00444730" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333983" "01919" "00444731" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333984" "01919" "00444732" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333985" "01919" "00444733" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333986" "01919" "00444734" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333987" "01919" "00444735" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333988" "01919" "00444736" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333989" "01919" "00444737" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333990" "01919" "00444738" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333991" "01919" "00444739" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333992" "01919" "00444740" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333993" "01919" "00444741" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333994" "01919" "00444742" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333995" "01919" "00444743" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333996" "01919" "00444744" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333997" "01919" "00444745" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333998" "01919" "00444746" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000333999" "01919" "00444747" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334000" "01919" "00444748" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334001" "01919" "00444749" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334002" "01919" "00444750" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334003" "01919" "00444751" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334004" "01919" "00444752" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334005" "01919" "00444753" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334006" "01919" "00444754" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334007" "01919" "00444755" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334008" "01919" "00444756" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334009" "01919" "00444757" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334010" "01919" "00444758" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334011" "01919" "00444759" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334012" "01919" "00444760" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334013" "01919" "00444761" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334014" "01919" "00444762" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334015" "01919" "00444763" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334016" "01919" "00444764" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334017" "01919" "00444765" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334018" "01919" "00444766" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334019" "01919" "00444767" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334020" "01919" "00444768" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334021" "01919" "00444769" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334022" "01919" "00444770" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334023" "01919" "00444771" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334024" "01919" "00444772" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334025" "01919" "00444773" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334026" "01919" "00444774" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334027" "01919" "00444775" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334028" "01919" "00444776" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334029" "01919" "00444777" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334030" "01919" "00444778" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334031" "01919" "00444779" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334032" "01919" "00444780" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334033" "01919" "00444781" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334034" "01919" "00444782" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334035" "01919" "00444783" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334036" "01919" "00444784" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334037" "01919" "00444785" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334038" "01919" "00444786" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334039" "01919" "00444787" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334040" "01919" "00444788" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334041" "01919" "00444789" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334042" "01919" "00444790" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334043" "01919" "00444791" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334044" "01919" "00444792" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334045" "01919" "00444793" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334046" "01919" "00444794" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334047" "01919" "00444795" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334048" "01919" "00444796" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334049" "01919" "00444797" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334050" "01919" "00444798" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334051" "01919" "00444799" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334052" "01919" "00444800" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334053" "01919" "00444801" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334054" "01919" "00444802" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334055" "01919" "00444803" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334056" "01919" "00444804" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334057" "01919" "00444805" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334058" "01919" "00444806" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334059" "01919" "00444807" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334060" "01919" "00444808" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334061" "01919" "00444809" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334062" "01919" "00444810" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334063" "01919" "00444811" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334064" "01919" "00444812" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334065" "01919" "00444813" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334066" "01919" "00444814" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334067" "01919" "00444815" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334068" "01919" "00444816" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334069" "01919" "00444817" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334070" "01919" "00444818" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334071" "01919" "00444819" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334072" "01919" "00444820" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334073" "01919" "00444821" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334074" "01919" "00444822" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334075" "01919" "00444823" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334076" "01919" "00444824" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334077" "01919" "00444825" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334078" "01919" "00444826" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334079" "01919" "00444827" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334080" "01919" "00444828" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334081" "01919" "00444829" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334082" "01919" "00444830" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334083" "01919" "00444831" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334084" "01919" "00444832" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334085" "01919" "00444833" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334086" "01919" "00444834" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334087" "01919" "00444835" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334088" "01919" "00444836" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334089" "01919" "00444837" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334090" "01919" "00444838" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334091" "01919" "00444839" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334092" "01919" "00444840" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334093" "01919" "00444841" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334094" "01919" "00444842" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334095" "01919" "00444843" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334096" "01919" "00444844" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334097" "01919" "00444845" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334098" "01919" "00444846" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334099" "01919" "00444847" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334100" "01919" "00444848" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334101" "01919" "00444849" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334102" "01919" "00444850" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334103" "01919" "00444851" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334104" "01919" "00444852" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334105" "01919" "00444853" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334106" "01919" "00444854" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334107" "01919" "00444855" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000334108" "01919" "00444856" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MMA" "methylmalonic acidemia" "" "0000340800" "00198" "00452197" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "MMUTD" "methylmalonic acidemia" "" "0000340801" "00198" "00452198" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "MMUTD" "methylmalonic acidemia" "" "0000340802" "00198" "00452199" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "MMUTD" "methylmalonic acidemia" "" "0000340803" "00198" "00452200" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "MMUTD" "methylmalonic acidemia" "" "0000340804" "00198" "00452201" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "MMUTD" "methylmalonic acidemia" "" "0000340805" "00198" "00452202" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "MMUTD" "methylmalonic acidemia" "" "0000340806" "00198" "00452203" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "MMUTD" "methylmalonic acidemia" "" "0000340807" "00198" "00452204" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "MMUTD" "methylmalonic acidemia" "" "0000340808" "00198" "00452205" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "MMUTD" "methylmalonic acidemia" "" "0000340809" "00198" "00452206" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "MMUTD" "methylmalonic acidemia" "" "0000342294" "02554" "00453637" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "05y-08y" "" "" "" "" "" "" "" "methylmalonic aciduria" "inborn error of metabolism" "" "0000342295" "02554" "00453638" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "05y-10y" "" "" "" "" "" "" "" "methylmalonic aciduria" "inborn error of metabolism" "" ## Screenings ## Do not remove or alter this header ## ## Count = 282 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000039646" "00039405" "1" "01158" "01158" "2015-06-15 15:25:19" "" "" "SEQ-NG" "DNA" "" "" "0000181991" "00181043" "1" "02568" "02568" "2018-09-21 12:40:14" "" "" "SEQ-NG-I" "DNA" "" "" "0000181993" "00181045" "1" "02568" "02568" "2018-09-21 12:47:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000230723" "00229630" "1" "00566" "00566" "2012-12-22 11:37:24" "00566" "2012-12-22 16:06:02" "SEQ" "DNA" "" "" "0000230724" "00229631" "1" "00566" "00566" "2012-12-22 12:43:58" "" "" "SEQ" "DNA" "" "" "0000230725" "00229632" "1" "00566" "00566" "2012-12-22 14:35:57" "" "" "SEQ" "DNA" "" "" "0000230726" "00229633" "1" "00566" "00566" "2012-12-22 15:57:41" "" "" "SEQ" "DNA" "" "" "0000295297" "00294129" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295298" "00294130" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295299" "00294131" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295300" "00294132" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295301" "00294133" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295302" "00294134" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000307060" "00305929" "1" "03695" "03695" "2020-07-05 19:39:38" "" "" "SEQ-NG" "DNA" "" "" "0000439773" "00438291" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000446170" "00444602" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446171" "00444603" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446172" "00444604" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446173" "00444605" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446174" "00444606" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446175" "00444607" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446176" "00444608" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446177" "00444609" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446178" "00444610" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446179" "00444611" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446180" "00444612" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446181" "00444613" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446182" "00444614" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446183" "00444615" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446184" "00444616" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446185" "00444617" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446186" "00444618" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446187" "00444619" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446188" "00444620" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446189" "00444621" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446190" "00444622" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446191" "00444623" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446192" "00444624" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446193" "00444625" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446194" "00444626" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446195" "00444627" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446196" "00444628" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446197" "00444629" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446198" "00444630" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446199" "00444631" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446200" "00444632" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446201" "00444633" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446202" "00444634" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446203" "00444635" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446204" "00444636" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446205" "00444637" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446206" "00444638" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446207" "00444639" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446208" "00444640" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446209" "00444641" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446210" "00444642" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446211" "00444643" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446212" "00444644" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446213" "00444645" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446214" "00444646" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446215" "00444647" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446216" "00444648" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446217" "00444649" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446218" "00444650" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446219" "00444651" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446220" "00444652" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446221" "00444653" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446222" "00444654" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446223" "00444655" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446224" "00444656" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446225" "00444657" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446226" "00444658" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446227" "00444659" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446228" "00444660" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446229" "00444661" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446230" "00444662" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446231" "00444663" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446232" "00444664" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446233" "00444665" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446234" "00444666" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446235" "00444667" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446236" "00444668" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446237" "00444669" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446238" "00444670" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446239" "00444671" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446240" "00444672" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446241" "00444673" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446242" "00444674" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446243" "00444675" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446244" "00444676" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446245" "00444677" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446246" "00444678" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446247" "00444679" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446248" "00444680" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446249" "00444681" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446250" "00444682" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446251" "00444683" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446252" "00444684" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446253" "00444685" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446254" "00444686" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446255" "00444687" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446256" "00444688" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446257" "00444689" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446258" "00444690" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446259" "00444691" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446260" "00444692" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446261" "00444693" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446262" "00444694" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446263" "00444695" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446264" "00444696" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446265" "00444697" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446266" "00444698" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446267" "00444699" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446268" "00444700" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446269" "00444701" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446270" "00444702" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446271" "00444703" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446272" "00444704" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446273" "00444705" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446274" "00444706" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446275" "00444707" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446276" "00444708" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446277" "00444709" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446278" "00444710" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446279" "00444711" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446280" "00444712" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446281" "00444713" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446282" "00444714" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446283" "00444715" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446284" "00444716" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446285" "00444717" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446286" "00444718" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446287" "00444719" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446288" "00444720" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446289" "00444721" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446290" "00444722" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446291" "00444723" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446292" "00444724" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446293" "00444725" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446294" "00444726" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446295" "00444727" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446296" "00444728" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446297" "00444729" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446298" "00444730" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446299" "00444731" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446300" "00444732" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446301" "00444733" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446302" "00444734" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446303" "00444735" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446304" "00444736" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446305" "00444737" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446306" "00444738" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446307" "00444739" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446308" "00444740" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446309" "00444741" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446310" "00444742" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446311" "00444743" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446312" "00444744" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446313" "00444745" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446314" "00444746" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446315" "00444747" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446316" "00444748" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446317" "00444749" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446318" "00444750" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446319" "00444751" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446320" "00444752" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446321" "00444753" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446322" "00444754" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446323" "00444755" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446324" "00444756" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446325" "00444757" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446326" "00444758" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446327" "00444759" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446328" "00444760" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446329" "00444761" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446330" "00444762" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446331" "00444763" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446332" "00444764" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446333" "00444765" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446334" "00444766" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446335" "00444767" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446336" "00444768" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446337" "00444769" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446338" "00444770" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446339" "00444771" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446340" "00444772" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446341" "00444773" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446342" "00444774" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446343" "00444775" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446344" "00444776" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446345" "00444777" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446346" "00444778" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446347" "00444779" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446348" "00444780" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446349" "00444781" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446350" "00444782" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446351" "00444783" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446352" "00444784" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446353" "00444785" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446354" "00444786" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446355" "00444787" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446356" "00444788" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446357" "00444789" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446358" "00444790" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446359" "00444791" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446360" "00444792" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446361" "00444793" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446362" "00444794" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446363" "00444795" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446364" "00444796" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446365" "00444797" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446366" "00444798" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446367" "00444799" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446368" "00444800" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446369" "00444801" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446370" "00444802" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446371" "00444803" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446372" "00444804" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446373" "00444805" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446374" "00444806" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446375" "00444807" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446376" "00444808" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446377" "00444809" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446378" "00444810" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446379" "00444811" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446380" "00444812" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446381" "00444813" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446382" "00444814" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446383" "00444815" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446384" "00444816" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446385" "00444817" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446386" "00444818" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446387" "00444819" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446388" "00444820" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446389" "00444821" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446390" "00444822" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446391" "00444823" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446392" "00444824" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446393" "00444825" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446394" "00444826" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446395" "00444827" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446396" "00444828" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446397" "00444829" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446398" "00444830" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446399" "00444831" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446400" "00444832" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446401" "00444833" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446402" "00444834" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446403" "00444835" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446404" "00444836" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446405" "00444837" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446406" "00444838" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446407" "00444839" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446408" "00444840" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446409" "00444841" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446410" "00444842" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446411" "00444843" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446412" "00444844" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446413" "00444845" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446414" "00444846" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446415" "00444847" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446416" "00444848" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446417" "00444849" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446418" "00444850" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446419" "00444851" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446420" "00444852" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446421" "00444853" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446422" "00444854" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446423" "00444855" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000446424" "00444856" "1" "00006" "00006" "2023-12-27 15:19:13" "" "" "SEQ" "DNA" "" "" "0000453799" "00452197" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453800" "00452198" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453801" "00452199" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453802" "00452200" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453803" "00452201" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453804" "00452202" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453805" "00452203" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453806" "00452204" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453807" "00452205" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453808" "00452206" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000455249" "00453637" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455250" "00453638" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 272 "{{screeningid}}" "{{geneid}}" "0000181991" "MUT" "0000181993" "MUT" "0000230723" "MUT" "0000230724" "MUT" "0000230725" "MUT" "0000230726" "MUT" "0000307060" "MUT" "0000446170" "MUT" "0000446171" "MUT" "0000446172" "MUT" "0000446173" "MUT" "0000446174" "MUT" "0000446175" "MUT" "0000446176" "MUT" "0000446177" "MUT" "0000446178" "MUT" "0000446179" "MUT" "0000446180" "MUT" "0000446181" "MUT" "0000446182" "MUT" "0000446183" "MUT" "0000446184" "MUT" "0000446185" "MUT" "0000446186" "MUT" "0000446187" "MUT" "0000446188" "MUT" "0000446189" "MUT" "0000446190" "MUT" "0000446191" "MUT" "0000446192" "MUT" "0000446193" "MUT" "0000446194" "MUT" "0000446195" "MUT" "0000446196" "MUT" "0000446197" "MUT" "0000446198" "MUT" "0000446199" "MUT" "0000446200" "MUT" "0000446201" "MUT" "0000446202" "MUT" "0000446203" "MUT" "0000446204" "MUT" "0000446205" "MUT" "0000446206" "MUT" "0000446207" "MUT" "0000446208" "MUT" "0000446209" "MUT" "0000446210" "MUT" "0000446211" "MUT" "0000446212" "MUT" "0000446213" "MUT" "0000446214" "MUT" "0000446215" "MUT" "0000446216" "MUT" "0000446217" "MUT" "0000446218" "MUT" "0000446219" "MUT" "0000446220" "MUT" "0000446221" "MUT" "0000446222" "MUT" "0000446223" "MUT" "0000446224" "MUT" "0000446225" "MUT" "0000446226" "MUT" "0000446227" "MUT" "0000446228" "MUT" "0000446229" "MUT" "0000446230" "MUT" "0000446231" "MUT" "0000446232" "MUT" "0000446233" "MUT" "0000446234" "MUT" "0000446235" "MUT" "0000446236" "MUT" "0000446237" "MUT" "0000446238" "MUT" "0000446239" "MUT" "0000446240" "MUT" "0000446241" "MUT" "0000446242" "MUT" "0000446243" "MUT" "0000446244" "MUT" "0000446245" "MUT" "0000446246" "MUT" "0000446247" "MUT" "0000446248" "MUT" "0000446249" "MUT" "0000446250" "MUT" "0000446251" "MUT" "0000446252" "MUT" "0000446253" "MUT" "0000446254" "MUT" "0000446255" "MUT" "0000446256" "MUT" "0000446257" "MUT" "0000446258" "MUT" "0000446259" "MUT" "0000446260" "MUT" "0000446261" "MUT" "0000446262" "MUT" "0000446263" "MUT" "0000446264" "MUT" "0000446265" "MUT" "0000446266" "MUT" "0000446267" "MUT" "0000446268" "MUT" "0000446269" "MUT" "0000446270" "MUT" "0000446271" "MUT" "0000446272" "MUT" "0000446273" "MUT" "0000446274" "MUT" "0000446275" "MUT" "0000446276" "MUT" "0000446277" "MUT" "0000446278" "MUT" "0000446279" "MUT" "0000446280" "MUT" "0000446281" "MUT" "0000446282" "MUT" "0000446283" "MUT" "0000446284" "MUT" "0000446285" "MUT" "0000446286" "MUT" "0000446287" "MUT" "0000446288" "MUT" "0000446289" "MUT" "0000446290" "MUT" "0000446291" "MUT" "0000446292" "MUT" "0000446293" "MUT" "0000446294" "MUT" "0000446295" "MUT" "0000446296" "MUT" "0000446297" "MUT" "0000446298" "MUT" "0000446299" "MUT" "0000446300" "MUT" "0000446301" "MUT" "0000446302" "MUT" "0000446303" "MUT" "0000446304" "MUT" "0000446305" "MUT" "0000446306" "MUT" "0000446307" "MUT" "0000446308" "MUT" "0000446309" "MUT" "0000446310" "MUT" "0000446311" "MUT" "0000446312" "MUT" "0000446313" "MUT" "0000446314" "MUT" "0000446315" "MUT" "0000446316" "MUT" "0000446317" "MUT" "0000446318" "MUT" "0000446319" "MUT" "0000446320" "MUT" "0000446321" "MUT" "0000446322" "MUT" "0000446323" "MUT" "0000446324" "MUT" "0000446325" "MUT" "0000446326" "MUT" "0000446327" "MUT" "0000446328" "MUT" "0000446329" "MUT" "0000446330" "MUT" "0000446331" "MUT" "0000446332" "MUT" "0000446333" "MUT" "0000446334" "MUT" "0000446335" "MUT" "0000446336" "MUT" "0000446337" "MUT" "0000446338" "MUT" "0000446339" "MUT" "0000446340" "MUT" "0000446341" "MUT" "0000446342" "MUT" "0000446343" "MUT" "0000446344" "MUT" "0000446345" "MUT" "0000446346" "MUT" "0000446347" "MUT" "0000446348" "MUT" "0000446349" "MUT" "0000446350" "MUT" "0000446351" "MUT" "0000446352" "MUT" "0000446353" "MUT" "0000446354" "MUT" "0000446355" "MUT" "0000446356" "MUT" "0000446357" "MUT" "0000446358" "MUT" "0000446359" "MUT" "0000446360" "MUT" "0000446361" "MUT" "0000446362" "MUT" "0000446363" "MUT" "0000446364" "MUT" "0000446365" "MUT" "0000446366" "MUT" "0000446367" "MUT" "0000446368" "MUT" "0000446369" "MUT" "0000446370" "MUT" "0000446371" "MUT" "0000446372" "MUT" "0000446373" "MUT" "0000446374" "MUT" "0000446375" "MUT" "0000446376" "MUT" "0000446377" "MUT" "0000446378" "MUT" "0000446379" "MUT" "0000446380" "MUT" "0000446381" "MUT" "0000446382" "MUT" "0000446383" "MUT" "0000446384" "MUT" "0000446385" "MUT" "0000446386" "MUT" "0000446387" "MUT" "0000446388" "MUT" "0000446389" "MUT" "0000446390" "MUT" "0000446391" "MUT" "0000446392" "MUT" "0000446393" "MUT" "0000446394" "MUT" "0000446395" "MUT" "0000446396" "MUT" "0000446397" "MUT" "0000446398" "MUT" "0000446399" "MUT" "0000446400" "MUT" "0000446401" "MUT" "0000446402" "MUT" "0000446403" "MUT" "0000446404" "MUT" "0000446405" "MUT" "0000446406" "MUT" "0000446407" "MUT" "0000446408" "MUT" "0000446409" "MUT" "0000446410" "MUT" "0000446411" "MUT" "0000446412" "MUT" "0000446413" "MUT" "0000446414" "MUT" "0000446415" "MUT" "0000446416" "MUT" "0000446417" "MUT" "0000446418" "MUT" "0000446419" "MUT" "0000446420" "MUT" "0000446421" "MUT" "0000446422" "MUT" "0000446423" "MUT" "0000446424" "MUT" "0000453799" "MUT" "0000453800" "MUT" "0000453801" "MUT" "0000453802" "MUT" "0000453803" "MUT" "0000453804" "MUT" "0000453805" "MUT" "0000453806" "MUT" "0000453807" "MUT" "0000453808" "MUT" ## 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 = 459 "{{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}}" "0000067269" "0" "50" "6" "49419396" "49419396" "subst" "0.000488468" "01158" "MUT_000013" "g.49419396A>G" "" "{PMID:Bosch 2016:26350515}, {DOI:Bosch 2016:10.1038/ejhg.2015.186}" "" "" "" "De novo" "-" "" "0" "" "" "g.49451683A>G" "" "VUS" "" "0000256073" "0" "50" "6" "49419396" "49419396" "subst" "0.000488468" "01943" "MUT_000013" "g.49419396A>G" "" "" "" "MUT(NM_000255.3):c.1115T>C (p.I372T, p.(Ile372Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49451683A>G" "" "VUS" "" "0000280172" "0" "10" "6" "49415448" "49415448" "subst" "0.0983429" "02330" "MUT_000021" "g.49415448C>T" "" "" "" "MMUT(NM_000255.4):c.1495G>A (p.A499T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49447735C>T" "" "benign" "" "0000280173" "0" "10" "6" "49412433" "49412433" "subst" "0.316655" "02330" "MUT_000020" "g.49412433C>T" "" "" "" "MMUT(NM_000255.4):c.1595G>A (p.R532H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49444720C>T" "" "benign" "" "0000280174" "0" "30" "6" "49412399" "49412399" "subst" "0.00510445" "02330" "MUT_000019" "g.49412399G>A" "" "" "" "MMUT(NM_000255.4):c.1629C>T (p.S543=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49444686G>A" "" "likely benign" "" "0000280175" "0" "50" "6" "49403302" "49403302" "subst" "0.000679956" "02330" "MUT_000015" "g.49403302G>A" "" "" "" "MMUT(NM_000255.3):c.1991C>T (p.A664V), MMUT(NM_000255.4):c.1991C>T (p.A664V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49435589G>A" "" "VUS" "" "0000280176" "0" "10" "6" "49403282" "49403282" "subst" "0.562888" "02330" "MUT_000014" "g.49403282T>C" "" "" "" "MMUT(NM_000255.4):c.2011A>G (p.I671V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49435569T>C" "" "benign" "" "0000280177" "0" "10" "6" "49425521" "49425521" "subst" "0.562478" "02330" "MUT_000026" "g.49425521C>T" "" "" "" "MMUT(NM_000255.4):c.636G>A (p.K212=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49457808C>T" "" "benign" "" "0000280178" "0" "10" "6" "49425446" "49425446" "subst" "0.0125249" "02330" "MUT_000025" "g.49425446T>C" "" "" "" "MMUT(NM_000255.4):c.711A>G (p.P237=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49457733T>C" "" "benign" "" "0000282693" "0" "10" "6" "49412433" "49412433" "subst" "0.316655" "02325" "MUT_000020" "g.49412433C>T" "" "" "" "MMUT(NM_000255.4):c.1595G>A (p.R532H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49444720C>T" "" "benign" "" "0000282694" "0" "30" "6" "49412399" "49412399" "subst" "0.00510445" "02325" "MUT_000019" "g.49412399G>A" "" "" "" "MMUT(NM_000255.4):c.1629C>T (p.S543=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49444686G>A" "" "likely benign" "" "0000282695" "0" "10" "6" "49411477" "49411477" "subst" "0" "02325" "MUT_000017" "g.49411477G>C" "" "" "" "MMUT(NM_000255.4):c.1676+875C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49443764G>C" "" "benign" "" "0000282696" "0" "50" "6" "49403302" "49403302" "subst" "0.000679956" "02325" "MUT_000015" "g.49403302G>A" "" "" "" "MMUT(NM_000255.3):c.1991C>T (p.A664V), MMUT(NM_000255.4):c.1991C>T (p.A664V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49435589G>A" "" "VUS" "" "0000282697" "0" "10" "6" "49403282" "49403282" "subst" "0.562888" "02325" "MUT_000014" "g.49403282T>C" "" "" "" "MMUT(NM_000255.4):c.2011A>G (p.I671V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49435569T>C" "" "benign" "" "0000282698" "0" "10" "6" "49425521" "49425521" "subst" "0.562478" "02325" "MUT_000026" "g.49425521C>T" "" "" "" "MMUT(NM_000255.4):c.636G>A (p.K212=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49457808C>T" "" "benign" "" "0000286712" "0" "90" "6" "49419351" "49419351" "subst" "0" "02326" "MUT_000022" "g.49419351G>A" "" "" "" "MMUT(NM_000255.4):c.1160C>T (p.T387I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49451638G>A" "" "pathogenic" "" "0000286713" "0" "10" "6" "49412433" "49412433" "subst" "0.316655" "02326" "MUT_000020" "g.49412433C>T" "" "" "" "MMUT(NM_000255.4):c.1595G>A (p.R532H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49444720C>T" "" "benign" "" "0000286714" "0" "30" "6" "49412275" "49412275" "subst" "0" "02326" "MUT_000018" "g.49412275T>G" "" "" "" "MMUT(NM_000255.4):c.1676+77A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49444562T>G" "" "likely benign" "" "0000286715" "0" "10" "6" "49403282" "49403282" "subst" "0.562888" "02326" "MUT_000014" "g.49403282T>C" "" "" "" "MMUT(NM_000255.4):c.2011A>G (p.I671V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49435569T>C" "" "benign" "" "0000292214" "0" "30" "6" "49425764" "49425764" "subst" "0.000331365" "01943" "MUT_000028" "g.49425764C>T" "" "" "" "MUT(NM_000255.3):c.393G>A (p.Q131=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49458051C>T" "" "likely benign" "" "0000331067" "0" "50" "6" "49407969" "49407969" "subst" "0.000182872" "01804" "MUT_000016" "g.49407969T>C" "" "" "" "MMUT(NM_000255.3):c.1906A>G (p.T636A), MUT(NM_000255.3):c.1906A>G (p.(Thr636Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49440256T>C" "" "VUS" "" "0000331068" "0" "30" "6" "49423814" "49423814" "subst" "0.000572952" "01804" "MUT_000023" "g.49423814G>A" "" "" "" "MMUT(NM_000255.4):c.890C>T (p.T297I), MUT(NM_000255.3):c.890C>T (p.(Thr297Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49456101G>A" "" "likely benign" "" "0000342602" "0" "90" "6" "49427089" "49427089" "subst" "1.62801E-5" "02327" "MUT_000029" "g.49427089G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49459376G>A" "" "pathogenic" "" "0000405788" "11" "90" "6" "49416553" "49416553" "subst" "8.12883E-6" "02568" "MUT_000031" "g.49416553G>A" "" "" "" "Arg474Ter" "" "Germline" "" "" "0" "" "" "g.49448840G>A" "" "pathogenic" "" "0000405789" "21" "70" "6" "49403267" "49403267" "subst" "7.72427E-5" "02568" "MUT_000030" "g.49403267C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.49435554C>T" "" "likely pathogenic" "" "0000405790" "3" "70" "6" "49403267" "49403267" "subst" "7.72427E-5" "02568" "MUT_000030" "g.49403267C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.49435554C>T" "" "likely pathogenic" "" "0000472315" "0" "55" "6" "49427260" "49427260" "dup" "0" "00566" "MUT_000009" "g.49427260dup" "4/4" "" "" "g.8592_8593insC" "" "Germline" "" "" "0" "" "" "g.49459547dup" "" "VUS" "" "0000472316" "0" "35" "6" "49427260" "49427260" "dup" "0" "00566" "MUT_000009" "g.49427260dup" "" "" "" "g.8592_8593insC" "" "Germline" "" "" "0" "" "" "g.49459547dup" "" "likely benign" "" "0000472317" "0" "15" "6" "49427260" "49427260" "dup" "0" "00566" "MUT_000009" "g.49427260dup" "4/4" "" "" "g.8592_8593insC" "" "Germline" "" "" "0" "" "" "g.49459547dup" "" "benign" "" "0000472318" "0" "55" "6" "49427260" "49427260" "dup" "0" "00566" "MUT_000009" "g.49427260dup" "" "" "" "g.8592_8593insC" "" "Germline" "" "" "0" "" "" "g.49459547dup" "" "VUS" "" "0000472319" "0" "55" "6" "49427260" "49427260" "dup" "0" "00566" "MUT_000009" "g.49427260dup" "4/4" "" "" "g.8592_8593insC" "" "Germline" "" "" "0" "" "" "g.49459547dup" "" "VUS" "" "0000472320" "0" "55" "6" "49427255" "49427255" "subst" "0" "00566" "MUT_000010" "g.49427255A>G" "" "" "" "g.8598T>C" "" "Germline" "" "" "0" "" "" "g.49459542A>G" "" "VUS" "" "0000472321" "0" "35" "6" "49427255" "49427255" "subst" "0" "00566" "MUT_000010" "g.49427255A>G" "" "" "" "g.8598T>C" "" "Germline" "" "" "0" "" "" "g.49459542A>G" "" "likely benign" "" "0000472322" "0" "15" "6" "49427196" "49427196" "subst" "0" "00566" "MUT_000001" "g.49427196A>T" "" "" "" "g.8657T>A" "" "Germline" "" "" "0" "" "" "g.49459483A>T" "" "benign" "" "0000472323" "0" "55" "6" "49427192" "49427192" "subst" "0" "00566" "MUT_000005" "g.49427192A>T" "" "" "" "g.8661T>A" "" "Germline" "" "" "0" "" "" "g.49459479A>T" "" "VUS" "" "0000472324" "0" "55" "6" "49427190" "49427190" "subst" "0" "00566" "MUT_000002" "g.49427190G>T" "" "" "" "g.8663C>A" "" "Germline" "" "" "0" "" "" "g.49459477G>T" "" "VUS" "" "0000472325" "0" "55" "6" "49427185" "49427185" "subst" "0" "00566" "MUT_000003" "g.49427185A>T" "" "" "" "M65131.1:c.-6T>A" "" "Germline" "" "" "0" "" "" "g.49459472A>T" "" "VUS" "" "0000472326" "0" "55" "6" "49427185" "49427185" "subst" "0" "00566" "MUT_000003" "g.49427185A>T" "" "" "" "g.8668T>A" "" "Germline" "" "" "0" "" "" "g.49459472A>T" "" "VUS" "" "0000472327" "0" "55" "6" "49427165" "49427165" "subst" "0" "00566" "MUT_000004" "g.49427165C>T" "" "" "" "M65131.1:c.15G>A" "" "Germline" "" "" "0" "" "" "g.49459452C>T" "" "VUS" "" "0000472328" "0" "55" "6" "49427165" "49427165" "subst" "0" "00566" "MUT_000004" "g.49427165C>T" "" "" "" "g.8688G>A" "" "Germline" "" "" "0" "" "" "g.49459452C>T" "" "VUS" "" "0000472329" "0" "95" "6" "49426858" "49426858" "subst" "0.000113754" "00566" "MUT_000006" "g.49426858G>A" "" "" "" "g.8995C>T" "" "Germline" "" "" "0" "" "" "g.49459145G>A" "" "pathogenic" "" "0000472330" "0" "95" "6" "49426858" "49426858" "subst" "0.000113754" "00566" "MUT_000006" "g.49426858G>A" "" "" "" "g.8995C>T" "" "Germline" "" "" "0" "" "" "g.49459145G>A" "" "pathogenic" "" "0000472331" "0" "55" "6" "49426787" "49426787" "subst" "0" "00566" "MUT_000011" "g.49426787A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.49459074A>G" "" "VUS" "" "0000472332" "0" "55" "6" "49426786" "49426786" "subst" "0" "00566" "MUT_000008" "g.49426786A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.49459073A>G" "" "VUS" "" "0000472333" "0" "55" "6" "49426786" "49426786" "subst" "0" "00566" "MUT_000008" "g.49426786A>G" "" "" "" "g.9067T>C" "" "Germline" "" "" "0" "" "" "g.49459073A>G" "" "VUS" "" "0000472334" "0" "55" "6" "49426723" "49426723" "subst" "0" "00566" "MUT_000012" "g.49426723A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.49459010A>T" "" "VUS" "" "0000472335" "0" "95" "6" "49426722" "49426722" "dup" "0" "00566" "MUT_000007" "g.49426722dup" "" "" "" "g.9132dup" "" "Germline" "" "" "0" "" "" "g.49459009dup" "" "pathogenic" "" "0000472336" "0" "55" "6" "49426722" "49426722" "dup" "0" "00566" "MUT_000007" "g.49426722dup" "" "" "" "M65131.1:c.385+74dup" "" "Germline" "" "" "0" "" "" "g.49459009dup" "" "VUS" "" "0000528999" "0" "10" "6" "49403282" "49403282" "subst" "0.562888" "02327" "MUT_000014" "g.49403282T>C" "" "" "" "MMUT(NM_000255.4):c.2011A>G (p.I671V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49435569T>C" "" "benign" "" "0000529001" "0" "30" "6" "49412398" "49412398" "subst" "5.28709E-5" "01943" "MUT_000033" "g.49412398C>T" "" "" "" "MUT(NM_000255.3):c.1630G>A (p.G544R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49444685C>T" "" "likely benign" "" "0000529003" "0" "10" "6" "49412433" "49412433" "subst" "0.316655" "02327" "MUT_000020" "g.49412433C>T" "" "" "" "MMUT(NM_000255.4):c.1595G>A (p.R532H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49444720C>T" "" "benign" "" "0000529004" "0" "30" "6" "49415376" "49415376" "subst" "0" "01804" "MUT_000035" "g.49415376T>C" "" "" "" "MUT(NM_000255.3):c.1560+7A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49447663T>C" "" "likely benign" "" "0000529005" "0" "90" "6" "49415412" "49415412" "subst" "0" "02327" "MUT_000036" "g.49415412G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49447699G>A" "" "pathogenic" "" "0000529006" "0" "50" "6" "49416538" "49416538" "subst" "0" "01804" "MUT_000037" "g.49416538T>C" "" "" "" "MMUT(NM_000255.4):c.1435A>G (p.(Ile479Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49448825T>C" "" "VUS" "" "0000529007" "0" "30" "6" "49416648" "49416648" "subst" "0.000561482" "02330" "MUT_000038" "g.49416648G>A" "" "" "" "MMUT(NM_000255.4):c.1333-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49448935G>A" "" "likely benign" "" "0000529008" "0" "10" "6" "49416658" "49416658" "subst" "0.00149401" "02330" "MUT_000039" "g.49416658A>C" "" "" "" "MMUT(NM_000255.4):c.1333-18T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49448945A>C" "" "benign" "" "0000529009" "0" "50" "6" "49423826" "49423826" "subst" "0.000316913" "02330" "MUT_000040" "g.49423826T>C" "" "" "" "MMUT(NM_000255.3):c.878A>G (p.Q293R), MMUT(NM_000255.4):c.878A>G (p.Q293R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49456113T>C" "" "VUS" "" "0000529010" "0" "10" "6" "49423967" "49423967" "del" "0" "02330" "MUT_000041" "g.49423967del" "" "" "" "MMUT(NM_000255.4):c.754-7delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49456254del" "" "benign" "" "0000529011" "0" "30" "6" "49423967" "49423967" "del" "0" "02326" "MUT_000041" "g.49423967del" "" "" "" "MMUT(NM_000255.4):c.754-7delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49456254del" "" "likely benign" "" "0000529012" "0" "10" "6" "49423967" "49423967" "dup" "0" "02330" "MUT_000042" "g.49423967dup" "" "" "" "MMUT(NM_000255.4):c.754-7dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49456254dup" "" "benign" "" "0000529013" "0" "90" "6" "49425465" "49425465" "dup" "0" "01943" "MUT_000043" "g.49425465dup" "" "" "" "MUT(NM_000255.3):c.692dupA (p.Y231*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49457752dup" "" "pathogenic" "" "0000529014" "0" "70" "6" "49425503" "49425503" "subst" "4.06613E-6" "02327" "MUT_000044" "g.49425503T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49457790T>G" "" "likely pathogenic" "" "0000529015" "0" "10" "6" "49425521" "49425521" "subst" "0.562478" "02327" "MUT_000026" "g.49425521C>T" "" "" "" "MMUT(NM_000255.4):c.636G>A (p.K212=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49457808C>T" "" "benign" "" "0000529016" "0" "50" "6" "49425601" "49425601" "subst" "8.12836E-6" "01943" "MUT_000045" "g.49425601T>C" "" "" "" "MUT(NM_000255.3):c.556A>G (p.M186V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49457888T>C" "" "VUS" "" "0000529017" "0" "70" "6" "49426858" "49426858" "subst" "0.000113754" "02327" "MUT_000006" "g.49426858G>A" "" "" "" "MMUT(NM_000255.3):c.322C>T (p.R108C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49459145G>A" "" "likely pathogenic" "" "0000529018" "0" "30" "6" "49426918" "49426918" "subst" "2.43649E-5" "01804" "CENPQ_000001" "g.49426918C>T" "" "" "" "MUT(NM_000255.3):c.262G>A (p.(Val88Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49459205C>T" "" "likely benign" "" "0000529019" "0" "30" "6" "49426975" "49426975" "subst" "0.0020955" "01943" "CENPQ_000002" "g.49426975T>C" "" "" "" "MMUT(NM_000255.4):c.205A>G (p.I69V), MUT(NM_000255.3):c.205A>G (p.I69V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49459262T>C" "" "likely benign" "" "0000610375" "0" "30" "6" "49403240" "49403240" "subst" "0" "01804" "MUT_000046" "g.49403240G>T" "" "" "" "MUT(NM_000255.3):c.2053C>A (p.(Leu685Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49435527G>T" "" "likely benign" "" "0000610376" "0" "30" "6" "49421373" "49421373" "subst" "4.87876E-5" "01943" "MUT_000048" "g.49421373C>T" "" "" "" "MUT(NM_000255.3):c.1008G>A (p.M336I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49453660C>T" "" "likely benign" "" "0000621716" "0" "50" "6" "49407969" "49407969" "subst" "0.000182872" "01943" "MUT_000016" "g.49407969T>C" "" "" "" "MMUT(NM_000255.3):c.1906A>G (p.T636A), MUT(NM_000255.3):c.1906A>G (p.(Thr636Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49440256T>C" "" "VUS" "" "0000621717" "0" "50" "6" "49408010" "49408010" "subst" "8.1277E-5" "02325" "MUT_000047" "g.49408010A>G" "" "" "" "MMUT(NM_000255.4):c.1865T>C (p.M622T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49440297A>G" "" "VUS" "" "0000651986" "1" "70" "6" "49412365" "49412365" "subst" "2.84578E-5" "03575" "MUT_000049" "g.49412365C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs753564352}" "Germline" "" "rs753564352" "0" "" "" "g.49444652C>T" "" "likely pathogenic" "" "0000651987" "1" "50" "6" "49416556" "49416556" "subst" "0.00018693" "03575" "MUT_000050" "g.49416556C>A" "3/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs188766510}" "Germline" "" "rs188766510" "0" "" "" "g.49448843C>A" "" "VUS" "" "0000651988" "1" "90" "6" "49419304" "49419304" "subst" "4.06332E-5" "03575" "MUT_000051" "g.49419304G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs727504020}" "Germline" "" "rs727504020" "0" "" "" "g.49451591G>A" "" "pathogenic" "" "0000651989" "1" "90" "6" "49419405" "49419405" "subst" "6.51853E-5" "03575" "MUT_000052" "g.49419405C>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs564069299}" "Germline" "" "rs564069299" "0" "" "" "g.49451692C>T" "" "pathogenic" "" "0000651990" "1" "50" "6" "49419437" "49419437" "subst" "3.29031E-5" "03575" "MUT_000053" "g.49419437T>C" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs777031588}" "Germline" "" "rs777031588" "0" "" "" "g.49451724T>C" "" "VUS" "" "0000651991" "1" "90" "6" "49426858" "49426858" "subst" "0.000113754" "03575" "MUT_000006" "g.49426858G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs121918257}" "Germline" "" "rs121918257" "0" "" "" "g.49459145G>A" "" "pathogenic" "" "0000655602" "0" "90" "6" "49419405" "49419405" "subst" "6.51853E-5" "02325" "MUT_000052" "g.49419405C>T" "" "" "" "MMUT(NM_000255.4):c.1106G>A (p.R369H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49451692C>T" "" "pathogenic" "" "0000655603" "0" "70" "6" "49425739" "49425739" "subst" "0" "02325" "MUT_000054" "g.49425739G>C" "" "" "" "MMUT(NM_000255.4):c.418C>G (p.L140V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49458026G>C" "" "likely pathogenic" "" "0000655604" "0" "50" "6" "49426975" "49426975" "subst" "0.0020955" "02325" "CENPQ_000002" "g.49426975T>C" "" "" "" "MMUT(NM_000255.4):c.205A>G (p.I69V), MUT(NM_000255.3):c.205A>G (p.I69V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49459262T>C" "" "VUS" "" "0000673599" "1" "90" "6" "49409685" "49409685" "subst" "2.8472E-5" "03695" "MUT_000055" "g.49409685C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.49441972C>T" "" "pathogenic (recessive)" "" "0000673600" "2" "90" "6" "49419405" "49419405" "subst" "6.51853E-5" "03695" "MUT_000052" "g.49419405C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.49451692C>T" "" "pathogenic (recessive)" "" "0000677793" "0" "30" "6" "49403334" "49403334" "subst" "4.91039E-5" "01943" "MUT_000056" "g.49403334A>G" "" "" "" "MMUT(NM_000255.3):c.1959T>C (p.T653=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677794" "0" "30" "6" "49423826" "49423826" "subst" "0.000316913" "01943" "MUT_000040" "g.49423826T>C" "" "" "" "MMUT(NM_000255.3):c.878A>G (p.Q293R), MMUT(NM_000255.4):c.878A>G (p.Q293R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689746" "0" "90" "6" "49426858" "49426858" "subst" "0.000113754" "01943" "MUT_000006" "g.49426858G>A" "" "" "" "MMUT(NM_000255.3):c.322C>T (p.R108C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000720965" "0" "50" "6" "49399562" "49399562" "subst" "0" "01943" "MUT_000057" "g.49399562T>A" "" "" "" "MMUT(NM_000255.3):c.2132A>T (p.E711V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720966" "0" "50" "6" "49403302" "49403302" "subst" "0.000679956" "01943" "MUT_000015" "g.49403302G>A" "" "" "" "MMUT(NM_000255.3):c.1991C>T (p.A664V), MMUT(NM_000255.4):c.1991C>T (p.A664V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720967" "0" "50" "6" "49419420" "49419420" "subst" "4.08357E-5" "02325" "MUT_000058" "g.49419420T>G" "" "" "" "MMUT(NM_000255.3):c.1091A>C (p.Y364S), MMUT(NM_000255.4):c.1091A>C (p.(Tyr364Ser), p.Y364S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802626" "0" "50" "6" "49409579" "49409583" "del" "0" "01943" "MUT_000059" "g.49409579_49409583del" "" "" "" "MMUT(NM_000255.3):c.1782_1786delTAAAG (p.S594Rfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802627" "0" "30" "6" "49426991" "49426991" "subst" "0.000170587" "01943" "CENPQ_000004" "g.49426991G>T" "" "" "" "MMUT(NM_000255.3):c.189C>A (p.T63=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851244" "0" "50" "6" "49419420" "49419420" "subst" "4.08357E-5" "01943" "MUT_000058" "g.49419420T>G" "" "" "" "MMUT(NM_000255.3):c.1091A>C (p.Y364S), MMUT(NM_000255.4):c.1091A>C (p.(Tyr364Ser), p.Y364S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851245" "0" "50" "6" "49421477" "49421477" "subst" "0" "01943" "MUT_000060" "g.49421477A>T" "" "" "" "MMUT(NM_000255.3):c.912-8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887276" "0" "90" "6" "49399515" "49399515" "subst" "2.84421E-5" "02327" "MUT_000061" "g.49399515G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000887277" "0" "70" "6" "49412429" "49412429" "subst" "0" "02327" "MUT_000062" "g.49412429A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000935902" "1" "90" "6" "49419231" "49419231" "subst" "2.43857E-5" "00006" "MUT_000063" "g.49419231C>T" "" "{PMID:Chuan 2022:35571021}" "" "" "" "Germline" "" "" "0" "" "" "g.49451518C>T" "" "pathogenic" "" "0000936029" "2" "70" "6" "49403293" "49403293" "subst" "4.06752E-6" "00006" "MUT_000064" "g.49403293T>C" "" "{PMID:Chuan 2022:35571021}" "" "" "ACMG PM1,PM2,PP3,PP4" "Germline" "" "" "0" "" "" "g.49435580T>C" "" "likely pathogenic" "ACMG" "0000954427" "3" "70" "6" "49425675" "49425675" "subst" "0" "00006" "MUT_000190" "g.49425675C>A" "3/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49457962C>A" "" "likely pathogenic (recessive)" "ACMG" "0000954428" "1" "90" "6" "49425428" "49425429" "ins" "0" "00006" "MUT_000168" "g.49425428_49425429insAA" "80/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49457715_49457716insAA" "" "pathogenic (recessive)" "ACMG" "0000954429" "1" "90" "6" "49409685" "49409685" "subst" "2.8472E-5" "00006" "MUT_000055" "g.49409685C>T" "26/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49441972C>T" "" "pathogenic (recessive)" "ACMG" "0000954430" "1" "90" "6" "49419405" "49419405" "subst" "6.51853E-5" "00006" "MUT_000052" "g.49419405C>T" "47/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49451692C>T" "" "pathogenic (recessive)" "ACMG" "0000954431" "1" "90" "6" "49427077" "49427077" "subst" "4.06841E-6" "00006" "MUT_000221" "g.49427077G>A" "5/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49459364G>A" "" "pathogenic (recessive)" "ACMG" "0000954432" "1" "70" "6" "49421467" "49421467" "subst" "0" "00006" "MUT_000153" "g.49421467A>G" "33/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49453754A>G" "" "likely pathogenic (recessive)" "ACMG" "0000954433" "1" "70" "6" "49426834" "49426834" "subst" "0" "00006" "MUT_000210" "g.49426834C>T" "3/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49459121C>T" "" "likely pathogenic (recessive)" "ACMG" "0000954434" "1" "70" "6" "49425544" "49425544" "subst" "0" "00006" "MUT_000179" "g.49425544C>T" "3/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49457831C>T" "" "likely pathogenic (recessive)" "ACMG" "0000954435" "1" "90" "6" "49425428" "49425429" "ins" "0" "00006" "MUT_000168" "g.49425428_49425429insAA" "80/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49457715_49457716insAA" "" "pathogenic (recessive)" "ACMG" "0000954436" "1" "70" "6" "49419231" "49419231" "subst" "2.43857E-5" "00006" "MUT_000063" "g.49419231C>T" "25/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49451518C>T" "" "likely pathogenic (recessive)" "ACMG" "0000954437" "1" "90" "6" "49409685" "49409685" "subst" "2.8472E-5" "00006" "MUT_000055" "g.49409685C>T" "26/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49441972C>T" "" "pathogenic (recessive)" "ACMG" "0000954438" "1" "90" "6" "49425428" "49425429" "ins" "0" "00006" "MUT_000168" "g.49425428_49425429insAA" "80/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49457715_49457716insAA" "" "pathogenic (recessive)" "ACMG" "0000954439" "3" "90" "6" "49425428" "49425429" "ins" "0" "00006" "MUT_000168" "g.49425428_49425429insAA" "80/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49457715_49457716insAA" "" "pathogenic (recessive)" "ACMG" "0000954440" "1" "90" "6" "49419405" "49419405" "subst" "6.51853E-5" "00006" "MUT_000052" "g.49419405C>T" "47/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49451692C>T" "" "pathogenic (recessive)" "ACMG" "0000954441" "1" "70" "6" "49425724" "49425724" "subst" "0" "00006" "MUT_000198" "g.49425724C>A" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49458011C>A" "" "likely pathogenic (recessive)" "ACMG" "0000954442" "1" "70" "6" "49426891" "49426892" "ins" "0" "00006" "MUT_000215" "g.49426891_49426892insT" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49459178_49459179insT" "" "likely pathogenic (recessive)" "ACMG" "0000954443" "1" "90" "6" "49426820" "49426820" "dup" "0" "00006" "MUT_000208" "g.49426820dup" "3/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "360dupT" "" "Germline" "" "" "0" "" "" "g.49459107dup" "" "pathogenic (recessive)" "ACMG" "0000954444" "1" "90" "6" "49419406" "49419406" "subst" "2.03727E-5" "00006" "MUT_000136" "g.49419406G>A" "4/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49451693G>A" "" "pathogenic (recessive)" "ACMG" "0000954445" "1" "90" "6" "49425428" "49425429" "ins" "0" "00006" "MUT_000168" "g.49425428_49425429insAA" "80/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49457715_49457716insAA" "" "pathogenic (recessive)" "ACMG" "0000954446" "1" "70" "6" "49421467" "49421467" "subst" "0" "00006" "MUT_000153" "g.49421467A>G" "33/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49453754A>G" "" "likely pathogenic (recessive)" "ACMG" "0000954447" "1" "90" "6" "49425428" "49425429" "ins" "0" "00006" "MUT_000168" "g.49425428_49425429insAA" "80/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49457715_49457716insAA" "" "pathogenic (recessive)" "ACMG" "0000954448" "1" "70" "6" "49421456" "49421456" "subst" "0" "00006" "MUT_000150" "g.49421456A>C" "3/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49453743A>C" "" "likely pathogenic (recessive)" "ACMG" "0000954449" "1" "70" "6" "49425724" "49425724" "subst" "0" "00006" "MUT_000199" "g.49425724C>T" "3/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49458011C>T" "" "likely pathogenic (recessive)" "ACMG" "0000954450" "1" "90" "6" "49425532" "49425532" "dup" "0" "00006" "MUT_000178" "g.49425532dup" "8/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "626dupC" "" "Germline" "" "" "0" "" "" "g.49457819dup" "" "pathogenic (recessive)" "ACMG" "0000954451" "1" "90" "6" "49425428" "49425429" "ins" "0" "00006" "MUT_000168" "g.49425428_49425429insAA" "80/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49457715_49457716insAA" "" "pathogenic (recessive)" "ACMG" "0000954452" "1" "90" "6" "49425428" "49425429" "ins" "0" "00006" "MUT_000168" "g.49425428_49425429insAA" "80/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49457715_49457716insAA" "" "pathogenic (recessive)" "ACMG" "0000954453" "3" "90" "6" "49419405" "49419405" "subst" "6.51853E-5" "00006" "MUT_000052" "g.49419405C>T" "47/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49451692C>T" "" "pathogenic (recessive)" "ACMG" "0000954454" "1" "70" "6" "49421347" "49421349" "del" "0" "00006" "MUT_000140" "g.49421347_49421349del" "3/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "1038_1040delTCT" "" "Germline" "" "" "0" "" "" "g.49453634_49453636del" "" "likely pathogenic (recessive)" "ACMG" "0000954455" "1" "90" "6" "49425758" "49425759" "del" "0" "00006" "MUT_000206" "g.49425758_49425759del" "2/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "398_399delGA" "" "Germline" "" "" "0" "" "" "g.49458045_49458046del" "" "pathogenic (recessive)" "ACMG" "0000954456" "1" "90" "6" "49427077" "49427077" "subst" "4.06841E-6" "00006" "MUT_000221" "g.49427077G>A" "5/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49459364G>A" "" "pathogenic (recessive)" "ACMG" "0000954457" "1" "70" "6" "49421467" "49421467" "subst" "0" "00006" "MUT_000153" "g.49421467A>G" "33/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.49453754A>G" "" "likely pathogenic (recessive)" "ACMG" "0000954458" "1" "90" "6" "49425428" "49425429" "ins" "0" "00006" "MUT_000168" "g.49425428_49425429insAA" "80/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49457715_49457716insAA" "" "pathogenic (recessive)" "ACMG" "0000954459" "1" "90" "6" "49426820" "49426820" "dup" "0" "00006" "MUT_000208" "g.49426820dup" "3/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "360dupT" "" "Germline" "" "" "0" "" "" "g.49459107dup" "" "pathogenic (recessive)" "ACMG" "0000954460" "1" "70" "6" "49425733" "49425733" "subst" "0" "00006" "MUT_000203" "g.49425733T>C" "20/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49458020T>C" "" "likely pathogenic (recessive)" "ACMG" "0000954461" "1" "70" "6" "49426857" "49426857" "subst" "2.03156E-5" "00006" "MUT_000213" "g.49426857C>T" "46/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49459144C>T" "" "likely pathogenic (recessive)" "ACMG" "0000954462" "1" "90" "6" "49425428" "49425429" "ins" "0" "00006" "MUT_000168" "g.49425428_49425429insAA" "80/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49457715_49457716insAA" "" "pathogenic (recessive)" "ACMG" "0000954463" "1" "90" "6" "49423895" "49423896" "dup" "0" "00006" "MUT_000160" "g.49423895_49423896dup" "3/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "810_811dupGG" "" "Germline" "" "" "0" "" "" "g.49456182_49456183dup" "" "pathogenic (recessive)" "ACMG" "0000954464" "1" "70" "6" "49425733" "49425733" "subst" "0" "00006" "MUT_000203" "g.49425733T>C" "20/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49458020T>C" "" "likely pathogenic (recessive)" "ACMG" "0000954465" "1" "90" "6" "49425428" "49425429" "ins" "0" "00006" "MUT_000168" "g.49425428_49425429insAA" "80/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49457715_49457716insAA" "" "pathogenic (recessive)" "ACMG" "0000954466" "1" "90" "6" "49415381" "49415381" "subst" "0" "00006" "MUT_000109" "g.49415381A>T" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49447668A>T" "" "pathogenic (recessive)" "ACMG" "0000954467" "1" "90" "6" "49425428" "49425429" "ins" "0" "00006" "MUT_000168" "g.49425428_49425429insAA" "80/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49457715_49457716insAA" "" "pathogenic (recessive)" "ACMG" "0000954468" "1" "90" "6" "49409620" "49409620" "subst" "0" "00006" "MUT_000098" "g.49409620G>A" "13/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49441907G>A" "" "pathogenic (recessive)" "ACMG" "0000954469" "1" "90" "6" "49425428" "49425429" "ins" "0" "00006" "MUT_000168" "g.49425428_49425429insAA" "80/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49457715_49457716insAA" "" "pathogenic (recessive)" "ACMG" "0000954470" "1" "90" "6" "49427112" "49427112" "subst" "0" "00006" "MUT_000222" "g.49427112G>C" "2/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.49459399G>C" "" "pathogenic (recessive)" "ACMG" "0000954471" "1" "70" "6" "49421467" "49421467" "subst" "0" "00006" "MUT_000153" "g.49421467A>G" "33/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49453754A>G" "" "likely pathogenic (recessive)" "ACMG" "0000954472" "1" "90" "6" "49419405" "49419405" "subst" "6.51853E-5" "00006" "MUT_000052" "g.49419405C>T" "47/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49451692C>T" "" "pathogenic (recessive)" "ACMG" "0000954473" "1" "70" "6" "49426885" "49426885" "subst" "0" "00006" "MUT_000214" "g.49426885T>G" "2/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49459172T>G" "" "likely pathogenic (recessive)" "ACMG" "0000954474" "1" "70" "6" "49421467" "49421467" "subst" "0" "00006" "MUT_000153" "g.49421467A>G" "33/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49453754A>G" "" "likely pathogenic (recessive)" "ACMG" "0000954475" "1" "90" "6" "49419405" "49419405" "subst" "6.51853E-5" "00006" "MUT_000052" "g.49419405C>T" "47/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49451692C>T" "" "pathogenic (recessive)" "ACMG" "0000954476" "1" "70" "6" "49425503" "49425503" "subst" "4.06613E-6" "00006" "MUT_000044" "g.49425503T>G" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49457790T>G" "" "likely pathogenic (recessive)" "ACMG" "0000954477" "1" "50" "6" "49425404" "49425404" "subst" "0" "00006" "MUT_000166" "g.49425404C>A" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49457691C>A" "" "VUS" "ACMG" "0000954478" "1" "70" "6" "49427220" "49427220" "subst" "0" "00006" "MUT_000226" "g.49427220T>C" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49459507T>C" "" "likely pathogenic (recessive)" "ACMG" "0000954479" "3" "70" "6" "49419231" "49419231" "subst" "2.43857E-5" "00006" "MUT_000063" "g.49419231C>T" "25/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49451518C>T" "" "likely pathogenic (recessive)" "ACMG" "0000954480" "1" "70" "6" "49425663" "49425663" "subst" "0" "00006" "MUT_000189" "g.49425663T>C" "8/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49457950T>C" "" "likely pathogenic (recessive)" "ACMG" "0000954481" "1" "70" "6" "49421467" "49421467" "subst" "0" "00006" "MUT_000153" "g.49421467A>G" "33/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49453754A>G" "" "likely pathogenic (recessive)" "ACMG" "0000954482" "1" "90" "6" "49425428" "49425429" "ins" "0" "00006" "MUT_000168" "g.49425428_49425429insAA" "80/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49457715_49457716insAA" "" "pathogenic (recessive)" "ACMG" "0000954483" "1" "70" "6" "49425733" "49425733" "subst" "0" "00006" "MUT_000203" "g.49425733T>C" "20/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49458020T>C" "" "likely pathogenic (recessive)" "ACMG" "0000954484" "1" "90" "6" "49425428" "49425429" "ins" "0" "00006" "MUT_000168" "g.49425428_49425429insAA" "80/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49457715_49457716insAA" "" "pathogenic (recessive)" "ACMG" "0000954485" "1" "70" "6" "49425732" "49425732" "subst" "0" "00006" "MUT_000202" "g.49425732G>A" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49458019G>A" "" "likely pathogenic (recessive)" "ACMG" "0000954486" "1" "70" "6" "49426857" "49426857" "subst" "2.03156E-5" "00006" "MUT_000213" "g.49426857C>T" "46/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49459144C>T" "" "likely pathogenic (recessive)" "ACMG" "0000954487" "1" "70" "6" "49421464" "49421464" "subst" "0" "00006" "MUT_000152" "g.49421464G>A" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49453751G>A" "" "likely pathogenic (recessive)" "ACMG" "0000954488" "1" "90" "6" "49427077" "49427077" "subst" "4.06841E-6" "00006" "MUT_000221" "g.49427077G>A" "5/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.49459364G>A" "" "pathogenic (recessive)" "ACMG" "0000954489" "1" "90" "6" "49423949" "49423949" "dup" "0" "00006" "MUT_000162" "g.49423949dup" "21/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "755dupA" "" "Germline" "" "" "0" "" "" "g.49456236dup" "" "pathogenic (recessive)" "ACMG" "0000954490" "1" "90" "6" "49425428" "49425429" "ins" "0" "00006" "MUT_000168" "g.49425428_49425429insAA" "80/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49457715_49457716insAA" "" "pathogenic (recessive)" "ACMG" "0000954491" "3" "90" "6" "49423949" "49423949" "dup" "0" "00006" "MUT_000162" "g.49423949dup" "21/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "755dupA" "" "Germline" "" "" "0" "" "" "g.49456236dup" "" "pathogenic (recessive)" "ACMG" "0000954492" "1" "90" "6" "49425428" "49425429" "ins" "0" "00006" "MUT_000168" "g.49425428_49425429insAA" "80/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49457715_49457716insAA" "" "pathogenic (recessive)" "ACMG" "0000954493" "1" "70" "6" "49421467" "49421467" "subst" "0" "00006" "MUT_000153" "g.49421467A>G" "33/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49453754A>G" "" "likely pathogenic (recessive)" "ACMG" "0000954494" "1" "90" "6" "49426831" "49426831" "subst" "0" "00006" "MUT_000209" "g.49426831C>A" "2/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49459118C>A" "" "pathogenic (recessive)" "ACMG" "0000954495" "1" "90" "6" "49425428" "49425429" "ins" "0" "00006" "MUT_000168" "g.49425428_49425429insAA" "80/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49457715_49457716insAA" "" "pathogenic (recessive)" "ACMG" "0000954496" "1" "90" "6" "49409685" "49409685" "subst" "2.8472E-5" "00006" "MUT_000055" "g.49409685C>T" "26/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49441972C>T" "" "pathogenic (recessive)" "ACMG" "0000954497" "1" "70" "6" "49421467" "49421467" "subst" "0" "00006" "MUT_000153" "g.49421467A>G" "33/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49453754A>G" "" "likely pathogenic (recessive)" "ACMG" "0000954498" "1" "90" "6" "49419405" "49419405" "subst" "6.51853E-5" "00006" "MUT_000052" "g.49419405C>T" "47/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49451692C>T" "" "pathogenic (recessive)" "ACMG" "0000954499" "1" "90" "6" "49419358" "49419359" "del" "0" "00006" "MUT_000129" "g.49419358_49419359del" "3/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "1153_1154delTT" "" "Germline" "" "" "0" "" "" "g.49451645_49451646del" "" "pathogenic (recessive)" "ACMG" "0000954500" "1" "90" "6" "49425428" "49425429" "ins" "0" "00006" "MUT_000168" "g.49425428_49425429insAA" "80/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49457715_49457716insAA" "" "pathogenic (recessive)" "ACMG" "0000954501" "1" "90" "6" "49425464" "49425464" "subst" "0" "00006" "MUT_000172" "g.49425464G>T" "3/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49457751G>T" "" "pathogenic (recessive)" "ACMG" "0000954502" "3" "70" "6" "49426857" "49426857" "subst" "2.03156E-5" "00006" "MUT_000213" "g.49426857C>T" "46/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49459144C>T" "" "likely pathogenic (recessive)" "ACMG" "0000954503" "1" "70" "6" "49425474" "49425474" "subst" "1.22342E-5" "00006" "MUT_000174" "g.49425474C>T" "2/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49457761C>T" "" "likely pathogenic (recessive)" "ACMG" "0000954504" "1" "90" "6" "49419405" "49419405" "subst" "6.51853E-5" "00006" "MUT_000052" "g.49419405C>T" "47/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.49451692C>T" "" "pathogenic (recessive)" "ACMG" "0000954505" "1" "90" "6" "49425475" "49425475" "subst" "5.70888E-5" "00006" "MUT_000175" "g.49425475G>A" "7/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49457762G>A" "" "pathogenic (recessive)" "ACMG" "0000954506" "1" "90" "6" "49425403" "49425403" "delins" "0" "00006" "MUT_000165" "g.49425403delinsTAATAACCA" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49457690delinsTAATAACCA" "" "pathogenic (recessive)" "ACMG" "0000954507" "1" "90" "6" "49425428" "49425429" "ins" "0" "00006" "MUT_000168" "g.49425428_49425429insAA" "80/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49457715_49457716insAA" "" "pathogenic (recessive)" "ACMG" "0000954508" "1" "90" "6" "49425475" "49425475" "subst" "5.70888E-5" "00006" "MUT_000175" "g.49425475G>A" "7/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49457762G>A" "" "pathogenic (recessive)" "ACMG" "0000954509" "1" "70" "6" "49426857" "49426857" "subst" "2.03156E-5" "00006" "MUT_000213" "g.49426857C>T" "46/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49459144C>T" "" "likely pathogenic (recessive)" "ACMG" "0000954510" "1" "90" "6" "49425428" "49425429" "ins" "0" "00006" "MUT_000168" "g.49425428_49425429insAA" "80/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49457715_49457716insAA" "" "pathogenic (recessive)" "ACMG" "0000954511" "1" "70" "6" "49423862" "49423862" "subst" "4.06342E-6" "00006" "MUT_000159" "g.49423862A>G" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49456149A>G" "" "likely pathogenic (recessive)" "ACMG" "0000954512" "1" "90" "6" "49425428" "49425429" "ins" "0" "00006" "MUT_000168" "g.49425428_49425429insAA" "80/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49457715_49457716insAA" "" "pathogenic (recessive)" "ACMG" "0000954513" "1" "70" "6" "49425675" "49425675" "subst" "0" "00006" "MUT_000190" "g.49425675C>A" "3/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49457962C>A" "" "likely pathogenic (recessive)" "ACMG" "0000954514" "1" "90" "6" "49425475" "49425475" "subst" "5.70888E-5" "00006" "MUT_000175" "g.49425475G>A" "7/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49457762G>A" "" "pathogenic (recessive)" "ACMG" "0000954515" "1" "50" "6" "49426963" "49426963" "subst" "0" "00006" "MUT_000220" "g.49426963A>G" "2/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49459250A>G" "" "VUS" "ACMG" "0000954516" "1" "70" "6" "49426857" "49426857" "subst" "2.03156E-5" "00006" "MUT_000213" "g.49426857C>T" "46/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49459144C>T" "" "likely pathogenic (recessive)" "ACMG" "0000954517" "3" "70" "6" "49419231" "49419231" "subst" "2.43857E-5" "00006" "MUT_000063" "g.49419231C>T" "25/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49451518C>T" "" "likely pathogenic (recessive)" "ACMG" "0000954518" "3" "90" "6" "49412397" "49412398" "delins" "0" "00006" "MUT_000106" "g.49412397_49412398delinsTA" "16/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "1630_1631delGGinsTA" "" "Germline" "" "" "0" "" "" "g.49444684_49444685delinsTA" "" "pathogenic (recessive)" "ACMG" "0000954519" "3" "70" "6" "49425733" "49425733" "subst" "0" "00006" "MUT_000203" "g.49425733T>C" "20/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49458020T>C" "" "likely pathogenic (recessive)" "ACMG" "0000954520" "3" "70" "6" "49425716" "49425716" "subst" "0" "00006" "MUT_000197" "g.49425716A>T" "3/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49458003A>T" "" "likely pathogenic (recessive)" "ACMG" "0000954521" "3" "70" "6" "49425558" "49425558" "subst" "0" "00006" "MUT_000180" "g.49425558A>G" "11/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49457845A>G" "" "likely pathogenic (recessive)" "ACMG" "0000954522" "3" "70" "6" "49426857" "49426857" "subst" "2.03156E-5" "00006" "MUT_000213" "g.49426857C>T" "46/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49459144C>T" "" "likely pathogenic (recessive)" "ACMG" "0000954523" "3" "70" "6" "49426857" "49426857" "subst" "2.03156E-5" "00006" "MUT_000213" "g.49426857C>T" "46/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49459144C>T" "" "likely pathogenic (recessive)" "ACMG" "0000954524" "3" "90" "6" "49425428" "49425429" "ins" "0" "00006" "MUT_000168" "g.49425428_49425429insAA" "80/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49457715_49457716insAA" "" "pathogenic (recessive)" "ACMG" "0000954525" "3" "90" "6" "49425428" "49425429" "ins" "0" "00006" "MUT_000168" "g.49425428_49425429insAA" "80/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49457715_49457716insAA" "" "pathogenic (recessive)" "ACMG" "0000954526" "3" "90" "6" "49425428" "49425429" "ins" "0" "00006" "MUT_000168" "g.49425428_49425429insAA" "80/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49457715_49457716insAA" "" "pathogenic (recessive)" "ACMG" "0000954527" "3" "90" "6" "49425428" "49425429" "ins" "0" "00006" "MUT_000168" "g.49425428_49425429insAA" "80/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49457715_49457716insAA" "" "pathogenic (recessive)" "ACMG" "0000954528" "3" "90" "6" "49425428" "49425429" "ins" "0" "00006" "MUT_000168" "g.49425428_49425429insAA" "80/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49457715_49457716insAA" "" "pathogenic (recessive)" "ACMG" "0000954529" "3" "90" "6" "49425428" "49425429" "ins" "0" "00006" "MUT_000168" "g.49425428_49425429insAA" "80/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49457715_49457716insAA" "" "pathogenic (recessive)" "ACMG" "0000954530" "3" "70" "6" "49419231" "49419231" "subst" "2.43857E-5" "00006" "MUT_000063" "g.49419231C>T" "25/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49451518C>T" "" "likely pathogenic (recessive)" "ACMG" "0000954531" "3" "90" "6" "49412397" "49412398" "delins" "0" "00006" "MUT_000106" "g.49412397_49412398delinsTA" "16/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "1630_1631delGGinsTA" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49444684_49444685delinsTA" "" "pathogenic (recessive)" "ACMG" "0000954532" "3" "70" "6" "49425733" "49425733" "subst" "0" "00006" "MUT_000203" "g.49425733T>C" "20/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49458020T>C" "" "likely pathogenic (recessive)" "ACMG" "0000954533" "3" "70" "6" "49425716" "49425716" "subst" "0" "00006" "MUT_000197" "g.49425716A>T" "3/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49458003A>T" "" "likely pathogenic (recessive)" "ACMG" "0000954534" "3" "70" "6" "49425558" "49425558" "subst" "0" "00006" "MUT_000180" "g.49425558A>G" "11/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49457845A>G" "" "likely pathogenic (recessive)" "ACMG" "0000954535" "3" "70" "6" "49426857" "49426857" "subst" "2.03156E-5" "00006" "MUT_000213" "g.49426857C>T" "46/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49459144C>T" "" "likely pathogenic (recessive)" "ACMG" "0000954536" "3" "70" "6" "49426857" "49426857" "subst" "2.03156E-5" "00006" "MUT_000213" "g.49426857C>T" "46/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49459144C>T" "" "likely pathogenic (recessive)" "ACMG" "0000954537" "1" "90" "6" "49425428" "49425429" "ins" "0" "00006" "MUT_000168" "g.49425428_49425429insAA" "80/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49457715_49457716insAA" "" "pathogenic (recessive)" "ACMG" "0000954538" "1" "70" "6" "49427179" "49427179" "subst" "0" "00006" "MUT_000225" "g.49427179T>C" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49459466T>C" "" "likely pathogenic (recessive)" "ACMG" "0000954539" "1" "90" "6" "49427158" "49427158" "del" "0" "00006" "MUT_000224" "g.49427158del" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "22delC" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49459445del" "" "pathogenic (recessive)" "ACMG" "0000954540" "1" "90" "6" "49427157" "49427157" "dup" "0" "00006" "MUT_000223" "g.49427157dup" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "29dupT" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49459444dup" "" "pathogenic (recessive)" "ACMG" "0000954541" "1" "90" "6" "49427112" "49427112" "subst" "0" "00006" "MUT_000222" "g.49427112G>C" "2/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49459399G>C" "" "pathogenic (recessive)" "ACMG" "0000954542" "1" "90" "6" "49427089" "49427089" "subst" "1.62801E-5" "00006" "MUT_000029" "g.49427089G>A" "3/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49459376G>A" "" "pathogenic (recessive)" "ACMG" "0000954543" "1" "90" "6" "49427077" "49427077" "subst" "4.06841E-6" "00006" "MUT_000221" "g.49427077G>A" "5/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49459364G>A" "" "pathogenic (recessive)" "ACMG" "0000954544" "1" "50" "6" "49426963" "49426963" "subst" "0" "00006" "MUT_000220" "g.49426963A>G" "2/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49459250A>G" "" "VUS" "ACMG" "0000954545" "1" "70" "6" "49426920" "49426920" "subst" "0" "00006" "MUT_000219" "g.49426920C>T" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49459207C>T" "" "likely pathogenic (recessive)" "ACMG" "0000954546" "1" "90" "6" "49426912" "49426912" "delins" "0" "00006" "MUT_000218" "g.49426912delinsTT" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49459199delinsTT" "" "pathogenic (recessive)" "ACMG" "0000954547" "1" "70" "6" "49426903" "49426903" "subst" "3.65509E-5" "00006" "MUT_000217" "g.49426903G>A" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49459190G>A" "" "likely pathogenic (recessive)" "ACMG" "0000954548" "1" "90" "6" "49426902" "49426902" "subst" "6.09157E-5" "00006" "MUT_000216" "g.49426902C>T" "6/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49459189C>T" "" "pathogenic (recessive)" "ACMG" "0000954549" "1" "70" "6" "49426885" "49426885" "subst" "0" "00006" "MUT_000214" "g.49426885T>G" "2/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49459172T>G" "" "likely pathogenic (recessive)" "ACMG" "0000954550" "1" "90" "6" "49426858" "49426858" "subst" "0.000113754" "00006" "MUT_000006" "g.49426858G>A" "4/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49459145G>A" "" "pathogenic (recessive)" "ACMG" "0000954551" "1" "70" "6" "49426854" "49426854" "subst" "4.0624E-6" "00006" "MUT_000212" "g.49426854T>C" "2/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49459141T>C" "" "likely pathogenic (recessive)" "ACMG" "0000954552" "1" "50" "6" "49426837" "49426837" "subst" "0" "00006" "MUT_000211" "g.49426837T>C" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49459124T>C" "" "VUS" "ACMG" "0000954553" "1" "70" "6" "49426834" "49426834" "subst" "0" "00006" "MUT_000210" "g.49426834C>T" "3/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49459121C>T" "" "likely pathogenic (recessive)" "ACMG" "0000954554" "1" "90" "6" "49426831" "49426831" "subst" "0" "00006" "MUT_000209" "g.49426831C>A" "2/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49459118C>A" "" "pathogenic (recessive)" "ACMG" "0000954555" "1" "90" "6" "49426820" "49426820" "dup" "0" "00006" "MUT_000208" "g.49426820dup" "3/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "360dupT" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49459107dup" "" "pathogenic (recessive)" "ACMG" "0000954556" "1" "50" "6" "49425768" "49425768" "subst" "0" "00006" "MUT_000207" "g.49425768C>G" "2/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49458055C>G" "" "VUS" "ACMG" "0000954557" "1" "90" "6" "49425758" "49425759" "del" "0" "00006" "MUT_000206" "g.49425758_49425759del" "2/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "398_399delGA" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49458045_49458046del" "" "pathogenic (recessive)" "ACMG" "0000954558" "1" "70" "6" "49425738" "49425738" "subst" "0" "00006" "MUT_000205" "g.49425738A>G" "4/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49458025A>G" "" "likely pathogenic (recessive)" "ACMG" "0000954559" "1" "70" "6" "49425736" "49425736" "subst" "0" "00006" "MUT_000204" "g.49425736C>T" "2/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49458023C>T" "" "likely pathogenic (recessive)" "ACMG" "0000954560" "1" "70" "6" "49425729" "49425729" "subst" "0" "00006" "MUT_000201" "g.49425729T>C" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49458016T>C" "" "likely pathogenic (recessive)" "ACMG" "0000954561" "1" "70" "6" "49425726" "49425726" "subst" "1.26071E-5" "00006" "MUT_000200" "g.49425726C>T" "2/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49458013C>T" "" "likely pathogenic (recessive)" "ACMG" "0000954562" "1" "70" "6" "49425724" "49425724" "subst" "0" "00006" "MUT_000199" "g.49425724C>T" "3/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49458011C>T" "" "likely pathogenic (recessive)" "ACMG" "0000954563" "1" "70" "6" "49425711" "49425711" "subst" "0" "00006" "MUT_000196" "g.49425711T>C" "2/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49457998T>C" "" "likely pathogenic (recessive)" "ACMG" "0000954564" "1" "90" "6" "49425703" "49425703" "subst" "2.49713E-5" "00006" "MUT_000195" "g.49425703G>A" "5/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49457990G>A" "" "pathogenic (recessive)" "ACMG" "0000954565" "1" "50" "6" "49425700" "49425700" "subst" "4.15538E-6" "00006" "MUT_000194" "g.49425700C>T" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49457987C>T" "" "VUS" "ACMG" "0000954566" "1" "70" "6" "49425696" "49425696" "subst" "0.000742246" "00006" "MUT_000193" "g.49425696C>T" "3/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49457983C>T" "" "likely pathogenic (recessive)" "ACMG" "0000954567" "1" "70" "6" "49425690" "49425690" "subst" "0" "00006" "MUT_000192" "g.49425690T>A" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49457977T>A" "" "likely pathogenic (recessive)" "ACMG" "0000954568" "1" "70" "6" "49425687" "49425687" "subst" "0" "00006" "MUT_000191" "g.49425687A>T" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49457974A>T" "" "likely pathogenic (recessive)" "ACMG" "0000954569" "1" "70" "6" "49425663" "49425663" "subst" "0" "00006" "MUT_000189" "g.49425663T>C" "8/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49457950T>C" "" "likely pathogenic (recessive)" "ACMG" "0000954570" "1" "90" "6" "49425618" "49425618" "dup" "0" "00006" "MUT_000187" "g.49425618dup" "2/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "544dupA" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49457905dup" "" "pathogenic (recessive)" "ACMG" "0000954571" "1" "70" "6" "49425603" "49425603" "subst" "0" "00006" "MUT_000186" "g.49425603G>A" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49457890G>A" "" "likely pathogenic (recessive)" "ACMG" "0000954572" "1" "70" "6" "49425601" "49425601" "subst" "8.12836E-6" "00006" "MUT_000045" "g.49425601T>C" "3/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49457888T>C" "" "likely pathogenic (recessive)" "ACMG" "0000954573" "1" "70" "6" "49425591" "49425591" "subst" "0.0004674" "00006" "MUT_000027" "g.49425591T>C" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49457878T>C" "" "likely pathogenic (recessive)" "ACMG" "0000954574" "1" "70" "6" "49425590" "49425590" "subst" "0" "00006" "MUT_000185" "g.49425590A>C" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49457877A>C" "" "likely pathogenic (recessive)" "ACMG" "0000954575" "1" "70" "6" "49425588" "49425588" "subst" "0" "00006" "MUT_000184" "g.49425588C>A" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49457875C>A" "" "likely pathogenic (recessive)" "ACMG" "0000954576" "1" "70" "6" "49425579" "49425579" "subst" "0" "00006" "MUT_000183" "g.49425579A>T" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49457866A>T" "" "likely pathogenic (recessive)" "ACMG" "0000954577" "1" "70" "6" "49425576" "49425576" "subst" "0" "00006" "MUT_000182" "g.49425576G>A" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49457863G>A" "" "likely pathogenic (recessive)" "ACMG" "0000954578" "1" "70" "6" "49425567" "49425567" "subst" "0" "00006" "MUT_000181" "g.49425567G>T" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49457854G>T" "" "likely pathogenic (recessive)" "ACMG" "0000954579" "1" "70" "6" "49425544" "49425544" "subst" "0" "00006" "MUT_000179" "g.49425544C>T" "3/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49457831C>T" "" "likely pathogenic (recessive)" "ACMG" "0000954580" "1" "90" "6" "49425532" "49425532" "dup" "0" "00006" "MUT_000178" "g.49425532dup" "8/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "626dupC" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49457819dup" "" "pathogenic (recessive)" "ACMG" "0000954581" "1" "70" "6" "49425502" "49425502" "subst" "0" "00006" "MUT_000177" "g.49425502T>C" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49457789T>C" "" "likely pathogenic (recessive)" "ACMG" "0000954582" "1" "70" "6" "49425498" "49425498" "subst" "0" "00006" "MUT_000176" "g.49425498T>A" "2/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49457785T>A" "" "likely pathogenic (recessive)" "ACMG" "0000954583" "1" "90" "6" "49425475" "49425475" "subst" "5.70888E-5" "00006" "MUT_000175" "g.49425475G>A" "7/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49457762G>A" "" "pathogenic (recessive)" "ACMG" "0000954584" "1" "70" "6" "49425474" "49425474" "subst" "1.22342E-5" "00006" "MUT_000174" "g.49425474C>T" "2/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49457761C>T" "" "likely pathogenic (recessive)" "ACMG" "0000954585" "1" "90" "6" "49425464" "49425464" "subst" "0" "00006" "MUT_000172" "g.49425464G>T" "3/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49457751G>T" "" "pathogenic (recessive)" "ACMG" "0000954586" "1" "90" "6" "49425464" "49425464" "subst" "0" "00006" "MUT_000173" "g.49425464G>C" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49457751G>C" "" "pathogenic (recessive)" "ACMG" "0000954587" "1" "70" "6" "49425463" "49425463" "subst" "0" "00006" "MUT_000171" "g.49425463T>A" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49457750T>A" "" "likely pathogenic (recessive)" "ACMG" "0000954588" "1" "90" "6" "49425462" "49425462" "dup" "0" "00006" "MUT_000170" "g.49425462dup" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "699dupT" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49457749dup" "" "pathogenic (recessive)" "ACMG" "0000954589" "1" "70" "6" "49425433" "49425433" "subst" "0" "00006" "MUT_000169" "g.49425433T>A" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49457720T>A" "" "likely pathogenic (recessive)" "ACMG" "0000954590" "1" "70" "6" "49425415" "49425415" "subst" "0" "00006" "MUT_000167" "g.49425415A>T" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49457702A>T" "" "likely pathogenic (recessive)" "ACMG" "0000954591" "1" "50" "6" "49425401" "49425401" "subst" "4.11468E-6" "00006" "MUT_000164" "g.49425401T>C" "3/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49457688T>C" "" "VUS" "ACMG" "0000954592" "1" "90" "6" "49423951" "49423951" "subst" "0" "00006" "MUT_000163" "g.49423951C>G" "4/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49456238C>G" "" "pathogenic (recessive)" "ACMG" "0000954593" "1" "90" "6" "49423949" "49423949" "dup" "0" "00006" "MUT_000162" "g.49423949dup" "21/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "755dupA" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49456236dup" "" "pathogenic (recessive)" "ACMG" "0000954594" "1" "70" "6" "49423916" "49423916" "subst" "0" "00006" "MUT_000161" "g.49423916C>A" "2/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49456203C>A" "" "likely pathogenic (recessive)" "ACMG" "0000954595" "1" "90" "6" "49423895" "49423896" "dup" "0" "00006" "MUT_000160" "g.49423895_49423896dup" "3/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "810_811dupGG" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49456182_49456183dup" "" "pathogenic (recessive)" "ACMG" "0000954596" "1" "70" "6" "49423844" "49423844" "subst" "0" "00006" "MUT_000158" "g.49423844T>C" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49456131T>C" "" "likely pathogenic (recessive)" "ACMG" "0000954597" "1" "90" "6" "49423843" "49423843" "subst" "0" "00006" "MUT_000157" "g.49423843G>C" "2/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49456130G>C" "" "pathogenic (recessive)" "ACMG" "0000954598" "1" "70" "6" "49423839" "49423839" "subst" "0" "00006" "MUT_000156" "g.49423839T>C" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49456126T>C" "" "likely pathogenic (recessive)" "ACMG" "0000954599" "1" "50" "6" "49423823" "49423823" "subst" "0" "00006" "MUT_000155" "g.49423823G>T" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49456110G>T" "" "VUS" "ACMG" "0000954600" "1" "70" "6" "49421467" "49421467" "subst" "0" "00006" "MUT_000153" "g.49421467A>G" "33/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49453754A>G" "" "likely pathogenic (recessive)" "ACMG" "0000954601" "1" "90" "6" "49421462" "49421465" "del" "0" "00006" "MUT_000151" "g.49421462_49421465del" "6/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "920_923delTCTT" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49453749_49453752del" "" "pathogenic (recessive)" "ACMG" "0000954602" "1" "70" "6" "49421456" "49421456" "subst" "0" "00006" "MUT_000150" "g.49421456A>C" "3/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49453743A>C" "" "likely pathogenic (recessive)" "ACMG" "0000954603" "1" "90" "6" "49421439" "49421439" "dup" "0" "00006" "MUT_000149" "g.49421439dup" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "944dupT" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49453726dup" "" "pathogenic (recessive)" "ACMG" "0000954604" "1" "70" "6" "49421434" "49421434" "subst" "0" "00006" "MUT_000148" "g.49421434T>G" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49453721T>G" "" "likely pathogenic (recessive)" "ACMG" "0000954605" "1" "70" "6" "49421416" "49421416" "subst" "0" "00006" "MUT_000147" "g.49421416A>T" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49453703A>T" "" "likely pathogenic (recessive)" "ACMG" "0000954606" "1" "70" "6" "49421411" "49421411" "subst" "2.43863E-5" "00006" "MUT_000145" "g.49421411C>T" "2/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49453698C>T" "" "likely pathogenic (recessive)" "ACMG" "0000954607" "1" "90" "6" "49421405" "49421406" "del" "0" "00006" "MUT_000144" "g.49421405_49421406del" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "975_976delTA" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49453692_49453693del" "" "pathogenic (recessive)" "ACMG" "0000954608" "1" "70" "6" "49421372" "49421372" "subst" "0" "00006" "MUT_000141" "g.49421372A>G" "2/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49453659A>G" "" "likely pathogenic (recessive)" "ACMG" "0000954609" "1" "70" "6" "49421347" "49421349" "del" "0" "00006" "MUT_000140" "g.49421347_49421349del" "3/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "1038_1040delTCT" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49453634_49453636del" "" "likely pathogenic (recessive)" "ACMG" "0000954610" "1" "70" "6" "49421320" "49421320" "subst" "0" "00006" "MUT_000139" "g.49421320G>A" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49453607G>A" "" "likely pathogenic (recessive)" "ACMG" "0000954611" "1" "90" "6" "49421311" "49421311" "subst" "0" "00006" "MUT_000138" "g.49421311G>C" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49453598G>C" "" "pathogenic (recessive)" "ACMG" "0000954612" "1" "50" "6" "49419460" "49419463" "del" "0" "00006" "MUT_000137" "g.49419460_49419463del" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "1084-33_1084-30delCTTT" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49451747_49451750del" "" "VUS" "ACMG" "0000954613" "1" "90" "6" "49419437" "49419437" "subst" "3.29031E-5" "00006" "MUT_000053" "g.49419437T>C" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49451724T>C" "" "pathogenic (recessive)" "ACMG" "0000954614" "1" "90" "6" "49419406" "49419406" "subst" "2.03727E-5" "00006" "MUT_000136" "g.49419406G>A" "4/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49451693G>A" "" "pathogenic (recessive)" "ACMG" "0000954615" "1" "90" "6" "49419405" "49419405" "subst" "6.51853E-5" "00006" "MUT_000052" "g.49419405C>T" "47/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49451692C>T" "" "pathogenic (recessive)" "ACMG" "0000954616" "1" "90" "6" "49419404" "49419404" "dup" "0" "00006" "MUT_000135" "g.49419404dup" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "1107dupT" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49451691dup" "" "pathogenic (recessive)" "ACMG" "0000954617" "1" "70" "6" "49419373" "49419373" "subst" "0" "00006" "MUT_000134" "g.49419373C>T" "3/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49451660C>T" "" "likely pathogenic (recessive)" "ACMG" "0000954618" "1" "70" "6" "49419370" "49419370" "subst" "0" "00006" "MUT_000133" "g.49419370C>T" "2/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49451657C>T" "" "likely pathogenic (recessive)" "ACMG" "0000954619" "1" "50" "6" "49419369" "49419369" "subst" "0" "00006" "MUT_000132" "g.49419369C>T" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49451656C>T" "" "VUS" "ACMG" "0000954620" "1" "90" "6" "49419358" "49419359" "del" "0" "00006" "MUT_000129" "g.49419358_49419359del" "3/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "1153_1154delTT" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49451645_49451646del" "" "pathogenic (recessive)" "ACMG" "0000954621" "1" "70" "6" "49419357" "49419357" "subst" "0" "00006" "MUT_000128" "g.49419357A>C" "2/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49451644A>C" "" "likely pathogenic (recessive)" "ACMG" "0000954622" "1" "90" "6" "49419352" "49419352" "subst" "0" "00006" "MUT_000127" "g.49419352T>G" "6/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49451639T>G" "" "pathogenic (recessive)" "ACMG" "0000954623" "1" "90" "6" "49419304" "49419304" "subst" "4.06332E-5" "00006" "MUT_000051" "g.49419304G>A" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49451591G>A" "" "pathogenic (recessive)" "ACMG" "0000954624" "1" "50" "6" "49419303" "49419303" "subst" "4.87587E-5" "00006" "MUT_000126" "g.49419303C>T" "2/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49451590C>T" "" "VUS" "ACMG" "0000954625" "1" "70" "6" "49419281" "49419283" "del" "0" "00006" "MUT_000125" "g.49419281_49419283del" "3/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "1233_1235delCAT" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49451568_49451570del" "" "likely pathogenic (recessive)" "ACMG" "0000954626" "1" "70" "6" "49419263" "49419271" "del" "0" "00006" "MUT_000124" "g.49419263_49419271del" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "1241_1249delAAGAATCTG" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49451550_49451558del" "" "likely pathogenic (recessive)" "ACMG" "0000954627" "1" "70" "6" "49419244" "49419244" "subst" "4.06326E-6" "00006" "MUT_000123" "g.49419244C>G" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49451531C>G" "" "likely pathogenic (recessive)" "ACMG" "0000954628" "1" "70" "6" "49419216" "49419216" "subst" "0" "00006" "MUT_000121" "g.49419216T>G" "4/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49451503T>G" "" "likely pathogenic (recessive)" "ACMG" "0000954629" "1" "90" "6" "49419181" "49419181" "subst" "0" "00006" "MUT_000120" "g.49419181T>A" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49451468T>A" "" "pathogenic (recessive)" "ACMG" "0000954630" "1" "50" "6" "49416624" "49416624" "subst" "4.06573E-6" "00006" "MUT_000119" "g.49416624T>C" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49448911T>C" "" "VUS" "ACMG" "0000954631" "1" "90" "6" "49416614" "49416614" "del" "0" "00006" "MUT_000118" "g.49416614del" "2/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "1359delT" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49448901del" "" "pathogenic (recessive)" "ACMG" "0000954632" "1" "90" "6" "49416574" "49416574" "subst" "6.50206E-5" "00006" "MUT_000117" "g.49416574G>A" "2/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49448861G>A" "" "pathogenic (recessive)" "ACMG" "0000954633" "1" "90" "6" "49416553" "49416553" "subst" "8.12883E-6" "00006" "MUT_000031" "g.49416553G>A" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49448840G>A" "" "pathogenic (recessive)" "ACMG" "0000954634" "1" "70" "6" "49416534" "49416534" "subst" "0" "00006" "MUT_000116" "g.49416534T>C" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49448821T>C" "" "likely pathogenic (recessive)" "ACMG" "0000954635" "1" "50" "6" "49415469" "49415469" "subst" "0" "00006" "MUT_000114" "g.49415469A>T" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49447756A>T" "" "VUS" "ACMG" "0000954636" "1" "70" "6" "49415429" "49415429" "subst" "0" "00006" "MUT_000113" "g.49415429A>G" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49447716A>G" "" "likely pathogenic (recessive)" "ACMG" "0000954637" "1" "90" "6" "49415412" "49415412" "subst" "0" "00006" "MUT_000036" "g.49415412G>A" "5/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49447699G>A" "" "pathogenic (recessive)" "ACMG" "0000954638" "1" "90" "6" "49415405" "49415406" "ins" "0" "00006" "MUT_000112" "g.49415405_49415406insA" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49447692_49447693insA" "" "pathogenic (recessive)" "ACMG" "0000954639" "1" "70" "6" "49415403" "49415403" "subst" "0" "00006" "MUT_000110" "g.49415403G>T" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49447690G>T" "" "likely pathogenic (recessive)" "ACMG" "0000954640" "1" "70" "6" "49415403" "49415403" "subst" "0" "00006" "MUT_000111" "g.49415403G>A" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49447690G>A" "" "likely pathogenic (recessive)" "ACMG" "0000954641" "1" "90" "6" "49412437" "49412437" "del" "0" "00006" "MUT_000108" "g.49412437del" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "1591delG" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49444724del" "" "pathogenic (recessive)" "ACMG" "0000954642" "1" "10" "6" "49412433" "49412433" "subst" "0.316655" "00006" "MUT_000020" "g.49412433C>T" "5/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49444720C>T" "" "benign" "ACMG" "0000954643" "1" "70" "6" "49412418" "49412418" "subst" "0" "00006" "MUT_000107" "g.49412418A>T" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49444705A>T" "" "likely pathogenic (recessive)" "ACMG" "0000954644" "1" "90" "6" "49412365" "49412365" "subst" "2.84578E-5" "00006" "MUT_000049" "g.49412365C>T" "32/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49444652C>T" "" "pathogenic (recessive)" "ACMG" "0000954645" "1" "50" "6" "49412355" "49412355" "subst" "8.13121E-6" "00006" "MUT_000105" "g.49412355G>A" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49444642G>A" "" "VUS" "ACMG" "0000954646" "1" "90" "6" "49409685" "49409685" "subst" "2.8472E-5" "00006" "MUT_000055" "g.49409685C>T" "26/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49441972C>T" "" "pathogenic (recessive)" "ACMG" "0000954647" "1" "70" "6" "49409682" "49409682" "subst" "0" "00006" "MUT_000103" "g.49409682C>T" "4/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49441969C>T" "" "likely pathogenic (recessive)" "ACMG" "0000954648" "1" "50" "6" "49409674" "49409674" "subst" "0" "00006" "MUT_000102" "g.49409674C>G" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49441961C>G" "" "VUS" "ACMG" "0000954649" "1" "70" "6" "49409643" "49409643" "subst" "4.06474E-6" "00006" "MUT_000099" "g.49409643A>G" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49441930A>G" "" "likely pathogenic (recessive)" "ACMG" "0000954650" "1" "90" "6" "49409620" "49409620" "subst" "0" "00006" "MUT_000098" "g.49409620G>A" "13/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49441907G>A" "" "pathogenic (recessive)" "ACMG" "0000954651" "1" "90" "6" "49409584" "49409584" "subst" "0" "00006" "MUT_000096" "g.49409584C>A" "2/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49441871C>A" "" "pathogenic (recessive)" "ACMG" "0000954652" "1" "90" "6" "49409579" "49409583" "del" "0" "00006" "MUT_000059" "g.49409579_49409583del" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "1782_1786delTAAAG" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49441866_49441870del" "" "pathogenic (recessive)" "ACMG" "0000954653" "1" "90" "6" "49409577" "49409578" "del" "0" "00006" "MUT_000095" "g.49409577_49409578del" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "1784_1785delAA" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49441864_49441865del" "" "pathogenic (recessive)" "ACMG" "0000954654" "1" "70" "6" "49409571" "49409571" "subst" "0" "00006" "MUT_000094" "g.49409571A>C" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49441858A>C" "" "likely pathogenic (recessive)" "ACMG" "0000954655" "1" "50" "6" "49409554" "49409554" "subst" "0" "00006" "MUT_000093" "g.49409554T>A" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49441841T>A" "" "VUS" "ACMG" "0000954656" "1" "70" "6" "49408029" "49408029" "subst" "2.43895E-5" "00006" "MUT_000091" "g.49408029G>A" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49440316G>A" "" "likely pathogenic (recessive)" "ACMG" "0000954657" "1" "50" "6" "49408028" "49408028" "subst" "0" "00006" "MUT_000090" "g.49408028C>T" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49440315C>T" "" "VUS" "ACMG" "0000954658" "1" "50" "6" "49408025" "49408025" "subst" "0" "00006" "MUT_000089" "g.49408025A>C" "5/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49440312A>C" "" "VUS" "ACMG" "0000954659" "1" "70" "6" "49408022" "49408022" "subst" "0" "00006" "MUT_000088" "g.49408022A>G" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49440309A>G" "" "likely pathogenic (recessive)" "ACMG" "0000954660" "1" "70" "6" "49408001" "49408001" "subst" "0" "00006" "MUT_000087" "g.49408001T>G" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49440288T>G" "" "likely pathogenic (recessive)" "ACMG" "0000954661" "1" "70" "6" "49407995" "49407995" "subst" "1.21912E-5" "00006" "MUT_000086" "g.49407995T>C" "5/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49440282T>C" "" "likely pathogenic (recessive)" "ACMG" "0000954662" "1" "50" "6" "49407956" "49407956" "subst" "0" "00006" "MUT_000085" "g.49407956T>A" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49440243T>A" "" "VUS" "ACMG" "0000954663" "1" "70" "6" "49407932" "49407932" "subst" "8.12605E-6" "00006" "MUT_000084" "g.49407932C>T" "5/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49440219C>T" "" "likely pathogenic (recessive)" "ACMG" "0000954664" "1" "50" "6" "49403330" "49403330" "subst" "0.000114306" "00006" "MUT_000081" "g.49403330G>A" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49435617G>A" "" "VUS" "ACMG" "0000954665" "1" "70" "6" "49403284" "49403284" "subst" "0" "00006" "MUT_000080" "g.49403284C>A" "3/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49435571C>A" "" "likely pathogenic (recessive)" "ACMG" "0000954666" "1" "10" "6" "49403282" "49403282" "subst" "0.562888" "00006" "MUT_000014" "g.49403282T>C" "4/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49435569T>C" "" "benign" "ACMG" "0000954667" "1" "90" "6" "49403231" "49403231" "subst" "8.12453E-6" "00006" "MUT_000079" "g.49403231C>A" "3/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49435518C>A" "" "pathogenic (recessive)" "ACMG" "0000954668" "1" "90" "6" "49403213" "49403213" "subst" "1.62512E-5" "00006" "MUT_000078" "g.49403213G>A" "13/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49435500G>A" "" "pathogenic (recessive)" "ACMG" "0000954669" "1" "70" "6" "49403187" "49403187" "del" "0" "00006" "MUT_000077" "g.49403187del" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "2106delA" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49435474del" "" "likely pathogenic (recessive)" "ACMG" "0000954670" "1" "70" "6" "49403186" "49403186" "subst" "0" "00006" "MUT_000076" "g.49403186C>T" "2/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49435473C>T" "" "likely pathogenic (recessive)" "ACMG" "0000954671" "1" "70" "6" "49399571" "49399571" "subst" "0" "00006" "MUT_000074" "g.49399571T>C" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49431858T>C" "" "likely pathogenic (recessive)" "ACMG" "0000954672" "1" "90" "6" "49399563" "49399563" "subst" "0" "00006" "MUT_000072" "g.49399563C>A" "6/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49431850C>A" "" "pathogenic (recessive)" "ACMG" "0000954673" "1" "90" "6" "49399544" "49399544" "subst" "4.47104E-5" "00006" "MUT_000071" "g.49399544C>A" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49431831C>A" "" "pathogenic (recessive)" "ACMG" "0000954674" "1" "70" "6" "49399526" "49399526" "subst" "8.12645E-6" "00006" "MUT_000069" "g.49399526C>T" "2/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49431813C>T" "" "likely pathogenic (recessive)" "ACMG" "0000954675" "1" "90" "6" "49399515" "49399515" "subst" "2.84421E-5" "00006" "MUT_000061" "g.49399515G>A" "8/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49431802G>A" "" "pathogenic (recessive)" "ACMG" "0000954676" "1" "70" "6" "49399488" "49399488" "subst" "1.21865E-5" "00006" "MUT_000068" "g.49399488G>A" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49431775G>A" "" "likely pathogenic (recessive)" "ACMG" "0000954677" "1" "70" "6" "49399478" "49399478" "subst" "0" "00006" "MUT_000067" "g.49399478A>G" "2/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.49431765A>G" "" "likely pathogenic (recessive)" "ACMG" "0000954678" "1" "90" "6" "49398073" "49427219" "del" "0" "00006" "MUT_000066" "g.(?_49398073)_(49427219_49430815)del" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "del ex2-13" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.(?_49430360)_(49459506_49463102)del" "" "pathogenic (recessive)" "ACMG" "0000954679" "1" "90" "6" "49407918" "49409685" "del" "0" "00006" "MUT_000082" "g.(49403337_49407918)_(49409685_49412351)del" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "del ex10-11" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.(49435624_49440205)_(49441972_49444638)del" "" "pathogenic (recessive)" "ACMG" "0000954680" "1" "90" "6" "49403168" "49403337" "del" "0" "00006" "MUT_000075" "g.(49399570_49403168)_(49403337_49407918)del" "2/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "del ex12" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.(49431857_49435455)_(49435624_49440205)del" "" "pathogenic (recessive)" "ACMG" "0000954681" "1" "90" "6" "49398073" "49399570" "del" "0" "00006" "MUT_000065" "g.(?_49398073)_(49399570_49403168)del" "3/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "del ex13" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.(?_49430360)_(49431857_49435455)del" "" "pathogenic (recessive)" "ACMG" "0000954682" "2" "90" "6" "49419405" "49419405" "subst" "6.51853E-5" "00006" "MUT_000052" "g.49419405C>T" "47/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49451692C>T" "" "pathogenic (recessive)" "ACMG" "0000954683" "2" "90" "6" "49399515" "49399515" "subst" "2.84421E-5" "00006" "MUT_000061" "g.49399515G>A" "8/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49431802G>A" "" "pathogenic (recessive)" "ACMG" "0000954684" "2" "90" "6" "49403168" "49403337" "del" "0" "00006" "MUT_000075" "g.(49399570_49403168)_(49403337_49407918)del" "2/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "del ex12" "" "Germline" "" "" "0" "" "" "g.(49431857_49435455)_(49435624_49440205)del" "" "pathogenic (recessive)" "ACMG" "0000954685" "2" "90" "6" "49423949" "49423949" "dup" "0" "00006" "MUT_000162" "g.49423949dup" "21/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "755dupA" "" "Germline" "" "" "0" "" "" "g.49456236dup" "" "pathogenic (recessive)" "ACMG" "0000954686" "2" "90" "6" "49412397" "49412398" "delins" "0" "00006" "MUT_000106" "g.49412397_49412398delinsTA" "16/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "1630_1631delGGinsTA" "" "Germline" "" "" "0" "" "" "g.49444684_49444685delinsTA" "" "pathogenic (recessive)" "ACMG" "0000954687" "2" "90" "6" "49409671" "49409689" "del" "0" "00006" "MUT_000101" "g.49409671_49409689del" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "1677-5_1690delTTCAGATGTACAGTGGGAG" "" "Germline" "" "" "0" "" "" "g.49441958_49441976del" "" "pathogenic (recessive)" "ACMG" "0000954688" "2" "70" "6" "49421399" "49421399" "subst" "0" "00006" "MUT_000143" "g.49421399G>A" "2/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49453686G>A" "" "likely pathogenic (recessive)" "ACMG" "0000954689" "2" "90" "6" "49407919" "49407919" "del" "0" "00006" "MUT_000083" "g.49407919del" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "1956+1delG" "" "Germline" "" "" "0" "" "" "g.49440206del" "" "pathogenic (recessive)" "ACMG" "0000954690" "2" "90" "6" "49409685" "49409685" "subst" "2.8472E-5" "00006" "MUT_000055" "g.49409685C>T" "26/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49441972C>T" "" "pathogenic (recessive)" "ACMG" "0000954691" "2" "70" "6" "49399538" "49399538" "del" "0" "00006" "MUT_000070" "g.49399538del" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "2157delC" "" "Germline" "" "" "0" "" "" "g.49431825del" "" "likely pathogenic (recessive)" "ACMG" "0000954692" "2" "70" "6" "49409682" "49409682" "subst" "0" "00006" "MUT_000103" "g.49409682C>T" "4/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49441969C>T" "" "likely pathogenic (recessive)" "ACMG" "0000954693" "2" "90" "6" "49409685" "49409685" "subst" "2.8472E-5" "00006" "MUT_000055" "g.49409685C>T" "26/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49441972C>T" "" "pathogenic (recessive)" "ACMG" "0000954694" "2" "90" "6" "49399515" "49399515" "subst" "2.84421E-5" "00006" "MUT_000061" "g.49399515G>A" "8/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49431802G>A" "" "pathogenic (recessive)" "ACMG" "0000954695" "2" "90" "6" "49419352" "49419352" "subst" "0" "00006" "MUT_000127" "g.49419352T>G" "6/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49451639T>G" "" "pathogenic (recessive)" "ACMG" "0000954696" "2" "90" "6" "49409685" "49409685" "subst" "2.8472E-5" "00006" "MUT_000055" "g.49409685C>T" "26/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49441972C>T" "" "pathogenic (recessive)" "ACMG" "0000954697" "2" "70" "6" "49426857" "49426857" "subst" "2.03156E-5" "00006" "MUT_000213" "g.49426857C>T" "46/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49459144C>T" "" "likely pathogenic (recessive)" "ACMG" "0000954698" "2" "70" "6" "49421467" "49421467" "subst" "0" "00006" "MUT_000153" "g.49421467A>G" "33/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49453754A>G" "" "likely pathogenic (recessive)" "ACMG" "0000954699" "2" "70" "6" "49419281" "49419283" "del" "0" "00006" "MUT_000125" "g.49419281_49419283del" "3/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "1233_1235delCAT" "" "Germline" "" "" "0" "" "" "g.49451568_49451570del" "" "likely pathogenic (recessive)" "ACMG" "0000954700" "2" "90" "6" "49415500" "49415500" "subst" "0" "00006" "MUT_000115" "g.49415500T>C" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49447787T>C" "" "pathogenic (recessive)" "ACMG" "0000954701" "2" "90" "6" "49412397" "49412398" "delins" "0" "00006" "MUT_000106" "g.49412397_49412398delinsTA" "16/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "1630_1631delGGinsTA" "" "Germline" "" "" "0" "" "" "g.49444684_49444685delinsTA" "" "pathogenic (recessive)" "ACMG" "0000954702" "2" "70" "6" "49408067" "49408067" "subst" "0" "00006" "MUT_000092" "g.49408067C>T" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49440354C>T" "" "likely pathogenic (recessive)" "ACMG" "0000954703" "2" "90" "6" "49415412" "49415412" "subst" "0" "00006" "MUT_000036" "g.49415412G>A" "5/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49447699G>A" "" "pathogenic (recessive)" "ACMG" "0000954704" "2" "70" "6" "49419360" "49419360" "subst" "0" "00006" "MUT_000130" "g.49419360G>A" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49451647G>A" "" "likely pathogenic (recessive)" "ACMG" "0000954705" "2" "90" "6" "49419405" "49419405" "subst" "6.51853E-5" "00006" "MUT_000052" "g.49419405C>T" "47/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49451692C>T" "" "pathogenic (recessive)" "ACMG" "0000954706" "2" "70" "6" "49425696" "49425696" "subst" "0.000742246" "00006" "MUT_000193" "g.49425696C>T" "3/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49457983C>T" "" "likely pathogenic (recessive)" "ACMG" "0000954707" "2" "70" "6" "49419370" "49419370" "subst" "0" "00006" "MUT_000133" "g.49419370C>T" "2/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49451657C>T" "" "likely pathogenic (recessive)" "ACMG" "0000954708" "2" "70" "6" "49425663" "49425663" "subst" "0" "00006" "MUT_000189" "g.49425663T>C" "8/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49457950T>C" "" "likely pathogenic (recessive)" "ACMG" "0000954709" "2" "70" "6" "49419231" "49419231" "subst" "2.43857E-5" "00006" "MUT_000063" "g.49419231C>T" "25/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49451518C>T" "" "likely pathogenic (recessive)" "ACMG" "0000954710" "2" "90" "6" "49419352" "49419352" "subst" "0" "00006" "MUT_000127" "g.49419352T>G" "6/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49451639T>G" "" "pathogenic (recessive)" "ACMG" "0000954711" "2" "70" "6" "49421467" "49421467" "subst" "0" "00006" "MUT_000153" "g.49421467A>G" "33/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49453754A>G" "" "likely pathogenic (recessive)" "ACMG" "0000954712" "2" "70" "6" "49421456" "49421456" "subst" "0" "00006" "MUT_000150" "g.49421456A>C" "3/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49453743A>C" "" "likely pathogenic (recessive)" "ACMG" "0000954713" "2" "70" "6" "49419373" "49419373" "subst" "0" "00006" "MUT_000134" "g.49419373C>T" "3/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49451660C>T" "" "likely pathogenic (recessive)" "ACMG" "0000954714" "2" "90" "6" "49419405" "49419405" "subst" "6.51853E-5" "00006" "MUT_000052" "g.49419405C>T" "47/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49451692C>T" "" "pathogenic (recessive)" "ACMG" "0000954715" "2" "90" "6" "49425428" "49425429" "ins" "0" "00006" "MUT_000168" "g.49425428_49425429insAA" "80/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49457715_49457716insAA" "" "pathogenic (recessive)" "ACMG" "0000954716" "2" "70" "6" "49399563" "49399563" "del" "0" "00006" "MUT_000073" "g.49399563del" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "2131delG" "" "Germline" "" "" "0" "" "" "g.49431850del" "" "likely pathogenic (recessive)" "ACMG" "0000954717" "2" "90" "6" "49409685" "49409685" "subst" "2.8472E-5" "00006" "MUT_000055" "g.49409685C>T" "26/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49441972C>T" "" "pathogenic (recessive)" "ACMG" "0000954718" "2" "70" "6" "49409601" "49409601" "subst" "0" "00006" "MUT_000097" "g.49409601T>C" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49441888T>C" "" "likely pathogenic (recessive)" "ACMG" "0000954719" "2" "90" "6" "49399515" "49399515" "subst" "2.84421E-5" "00006" "MUT_000061" "g.49399515G>A" "8/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49431802G>A" "" "pathogenic (recessive)" "ACMG" "0000954720" "2" "90" "6" "49412397" "49412398" "delins" "0" "00006" "MUT_000106" "g.49412397_49412398delinsTA" "16/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "1630_1631delGGinsTA" "" "Germline" "" "" "0" "" "" "g.49444684_49444685delinsTA" "" "pathogenic (recessive)" "ACMG" "0000954721" "2" "90" "6" "49409620" "49409620" "subst" "0" "00006" "MUT_000098" "g.49409620G>A" "13/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49441907G>A" "" "pathogenic (recessive)" "ACMG" "0000954722" "2" "90" "6" "49416614" "49416614" "del" "0" "00006" "MUT_000118" "g.49416614del" "2/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "1359delT" "" "Germline" "" "" "0" "" "" "g.49448901del" "" "pathogenic (recessive)" "ACMG" "0000954723" "2" "70" "6" "49421467" "49421467" "subst" "0" "00006" "MUT_000153" "g.49421467A>G" "33/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49453754A>G" "" "likely pathogenic (recessive)" "ACMG" "0000954724" "2" "90" "6" "49409685" "49409685" "subst" "2.8472E-5" "00006" "MUT_000055" "g.49409685C>T" "26/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49441972C>T" "" "pathogenic (recessive)" "ACMG" "0000954725" "2" "10" "6" "49403282" "49403282" "subst" "0.562888" "00006" "MUT_000014" "g.49403282T>C" "4/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49435569T>C" "" "benign" "ACMG" "0000954726" "2" "90" "6" "49425428" "49425429" "ins" "0" "00006" "MUT_000168" "g.49425428_49425429insAA" "80/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49457715_49457716insAA" "" "pathogenic (recessive)" "ACMG" "0000954727" "2" "90" "6" "49412397" "49412398" "delins" "0" "00006" "MUT_000106" "g.49412397_49412398delinsTA" "16/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "1630_1631delGGinsTA" "" "Germline" "" "" "0" "" "" "g.49444684_49444685delinsTA" "" "pathogenic (recessive)" "ACMG" "0000954728" "2" "70" "6" "49409683" "49409683" "subst" "0" "00006" "MUT_000104" "g.49409683A>G" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49441970A>G" "" "likely pathogenic (recessive)" "ACMG" "0000954729" "2" "90" "6" "49419405" "49419405" "subst" "6.51853E-5" "00006" "MUT_000052" "g.49419405C>T" "47/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49451692C>T" "" "pathogenic (recessive)" "ACMG" "0000954730" "2" "90" "6" "49409620" "49409620" "subst" "0" "00006" "MUT_000098" "g.49409620G>A" "13/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49441907G>A" "" "pathogenic (recessive)" "ACMG" "0000954731" "2" "90" "6" "49419352" "49419352" "subst" "0" "00006" "MUT_000127" "g.49419352T>G" "6/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49451639T>G" "" "pathogenic (recessive)" "ACMG" "0000954732" "2" "70" "6" "49425661" "49425661" "subst" "0" "00006" "MUT_000188" "g.49425661T>G" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49457948T>G" "" "likely pathogenic (recessive)" "ACMG" "0000954733" "2" "70" "6" "49421414" "49421414" "subst" "0" "00006" "MUT_000146" "g.49421414T>C" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49453701T>C" "" "likely pathogenic (recessive)" "ACMG" "0000954734" "2" "90" "6" "49399515" "49399515" "subst" "2.84421E-5" "00006" "MUT_000061" "g.49399515G>A" "8/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49431802G>A" "" "pathogenic (recessive)" "ACMG" "0000954735" "2" "90" "6" "49425475" "49425475" "subst" "5.70888E-5" "00006" "MUT_000175" "g.49425475G>A" "7/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49457762G>A" "" "pathogenic (recessive)" "ACMG" "0000954736" "2" "90" "6" "49419363" "49419363" "dup" "0" "00006" "MUT_000131" "g.49419363dup" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "1148dupA" "" "Germline" "" "" "0" "" "" "g.49451650dup" "" "pathogenic (recessive)" "ACMG" "0000954737" "2" "90" "6" "49421471" "49421471" "subst" "0" "00006" "MUT_000154" "g.49421471T>A" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49453758T>A" "" "pathogenic (recessive)" "ACMG" "0000954738" "2" "90" "6" "49416574" "49416574" "subst" "6.50206E-5" "00006" "MUT_000117" "g.49416574G>A" "2/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49448861G>A" "" "pathogenic (recessive)" "ACMG" "0000954739" "2" "70" "6" "49421399" "49421399" "subst" "0" "00006" "MUT_000143" "g.49421399G>A" "2/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49453686G>A" "" "likely pathogenic (recessive)" "ACMG" "0000954740" "2" "70" "6" "49421394" "49421394" "subst" "0" "00006" "MUT_000142" "g.49421394C>A" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49453681C>A" "" "likely pathogenic (recessive)" "ACMG" "0000954741" "2" "90" "6" "49419405" "49419405" "subst" "6.51853E-5" "00006" "MUT_000052" "g.49419405C>T" "47/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49451692C>T" "" "pathogenic (recessive)" "ACMG" "0000954742" "2" "90" "6" "49419405" "49419405" "subst" "6.51853E-5" "00006" "MUT_000052" "g.49419405C>T" "47/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49451692C>T" "" "pathogenic (recessive)" "ACMG" "0000954743" "2" "90" "6" "49398073" "49399570" "del" "0" "00006" "MUT_000065" "g.(?_49398073)_(49399570_49403168)del" "3/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "del ex13" "" "Germline" "" "" "0" "" "" "g.(?_49430360)_(49431857_49435455)del" "" "pathogenic (recessive)" "ACMG" "0000954744" "2" "90" "6" "49409685" "49409685" "subst" "2.8472E-5" "00006" "MUT_000055" "g.49409685C>T" "26/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49441972C>T" "" "pathogenic (recessive)" "ACMG" "0000954745" "2" "70" "6" "49419231" "49419231" "subst" "2.43857E-5" "00006" "MUT_000063" "g.49419231C>T" "25/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49451518C>T" "" "likely pathogenic (recessive)" "ACMG" "0000954746" "2" "90" "6" "49409685" "49409685" "subst" "2.8472E-5" "00006" "MUT_000055" "g.49409685C>T" "26/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49441972C>T" "" "pathogenic (recessive)" "ACMG" "0000954747" "2" "90" "6" "49412397" "49412398" "delins" "0" "00006" "MUT_000106" "g.49412397_49412398delinsTA" "16/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "1630_1631delGGinsTA" "" "Germline" "" "" "0" "" "" "g.49444684_49444685delinsTA" "" "pathogenic (recessive)" "ACMG" "0000954748" "2" "90" "6" "49409685" "49409685" "subst" "2.8472E-5" "00006" "MUT_000055" "g.49409685C>T" "26/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49441972C>T" "" "pathogenic (recessive)" "ACMG" "0000954749" "2" "90" "6" "49423895" "49423896" "dup" "0" "00006" "MUT_000160" "g.49423895_49423896dup" "3/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "810_811dupGG" "" "Germline" "" "" "0" "" "" "g.49456182_49456183dup" "" "pathogenic (recessive)" "ACMG" "0000954750" "2" "70" "6" "49419231" "49419231" "subst" "2.43857E-5" "00006" "MUT_000063" "g.49419231C>T" "25/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49451518C>T" "" "likely pathogenic (recessive)" "ACMG" "0000954751" "2" "70" "6" "49419357" "49419357" "subst" "0" "00006" "MUT_000128" "g.49419357A>C" "2/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49451644A>C" "" "likely pathogenic (recessive)" "ACMG" "0000954752" "2" "90" "6" "49419358" "49419359" "del" "0" "00006" "MUT_000129" "g.49419358_49419359del" "3/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "1153_1154delTT" "" "Germline" "" "" "0" "" "" "g.49451645_49451646del" "" "pathogenic (recessive)" "ACMG" "0000954753" "2" "90" "6" "49419405" "49419405" "subst" "6.51853E-5" "00006" "MUT_000052" "g.49419405C>T" "47/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49451692C>T" "" "pathogenic (recessive)" "ACMG" "0000954754" "2" "90" "6" "49425703" "49425703" "subst" "2.49713E-5" "00006" "MUT_000195" "g.49425703G>A" "5/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49457990G>A" "" "pathogenic (recessive)" "ACMG" "0000954755" "2" "70" "6" "49419225" "49419225" "subst" "0.000142258" "00006" "MUT_000122" "g.49419225T>C" "4/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49451512T>C" "" "likely pathogenic (recessive)" "ACMG" "0000954756" "2" "70" "6" "49419231" "49419231" "subst" "2.43857E-5" "00006" "MUT_000063" "g.49419231C>T" "25/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49451518C>T" "" "likely pathogenic (recessive)" "ACMG" "0000954757" "2" "90" "6" "49419405" "49419405" "subst" "6.51853E-5" "00006" "MUT_000052" "g.49419405C>T" "47/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49451692C>T" "" "pathogenic (recessive)" "ACMG" "0000954758" "2" "70" "6" "49426854" "49426854" "subst" "4.0624E-6" "00006" "MUT_000212" "g.49426854T>C" "2/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49459141T>C" "" "likely pathogenic (recessive)" "ACMG" "0000954759" "2" "70" "6" "49421467" "49421467" "subst" "0" "00006" "MUT_000153" "g.49421467A>G" "33/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49453754A>G" "" "likely pathogenic (recessive)" "ACMG" "0000954760" "2" "50" "6" "49409671" "49409671" "subst" "0" "00006" "MUT_000100" "g.49409671C>T" "1/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49441958C>T" "" "VUS" "ACMG" "0000954761" "2" "90" "6" "49419406" "49419406" "subst" "2.03727E-5" "00006" "MUT_000136" "g.49419406G>A" "4/716 case chromosomes" "{PMID:Liang 2023:37316190}" "" "" "" "Germline" "" "" "0" "" "" "g.49451693G>A" "" "pathogenic (recessive)" "ACMG" "0000964163" "0" "10" "6" "49399249" "49399249" "del" "0" "02326" "MUT_000227" "g.49399249del" "" "" "" "MMUT(NM_000255.4):c.*201delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000964164" "0" "70" "6" "49421398" "49421398" "subst" "4.06408E-6" "02329" "MUT_000228" "g.49421398A>G" "" "" "" "MMUT(NM_000255.4):c.983T>C (p.L328P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000964165" "0" "90" "6" "49425703" "49425703" "subst" "2.49713E-5" "02327" "MUT_000195" "g.49425703G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000977273" "0" "50" "6" "49416544" "49416544" "subst" "0" "01804" "MUT_000229" "g.49416544C>T" "" "" "" "MMUT(NM_000255.4):c.1429G>A (p.(Ala477Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977274" "0" "50" "6" "49419215" "49419215" "subst" "2.84581E-5" "01804" "MUT_000230" "g.49419215T>G" "" "" "" "MMUT(NM_000255.4):c.1296A>C (p.(Glu432Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977275" "0" "50" "6" "49419386" "49419386" "subst" "0.00143252" "01804" "MUT_000231" "g.49419386C>T" "" "" "" "MMUT(NM_000255.4):c.1125G>A (p.(Met375Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977276" "0" "50" "6" "49427047" "49427047" "subst" "0" "01804" "CENPQ_000005" "g.49427047C>T" "" "" "" "MMUT(NM_000255.4):c.133G>A (p.(Ala45Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000988561" "0" "70" "6" "49412365" "49412365" "subst" "2.84578E-5" "00006" "MUT_000049" "g.49412365C>T" "3/20 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.49444652C>T" "" "likely pathogenic" "" "0000988562" "0" "90" "6" "49425428" "49425429" "ins" "0" "00006" "MUT_000168" "g.49425428_49425429insAA" "2/20 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.49457715_49457716insAA" "" "pathogenic" "" "0000988563" "0" "90" "6" "49426858" "49426858" "subst" "0.000113754" "00006" "MUT_000006" "g.49426858G>A" "1/20 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.49459145G>A" "" "pathogenic" "" "0000988564" "0" "90" "6" "49425703" "49425703" "subst" "2.49713E-5" "00006" "MUT_000195" "g.49425703G>A" "1/20 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.49457990G>A" "" "pathogenic" "" "0000988565" "0" "50" "6" "49425576" "49425576" "subst" "0" "00006" "MUT_000182" "g.49425576G>A" "1/20 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.49457863G>A" "" "VUS" "" "0000988566" "0" "70" "6" "0" "0" "" "" "00006" "LAMA2_000000" "g.?" "1/20 case chromosomes" "{PMID:Wang 2019:31737040}" "" "755dupAA (H252QfsX6)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000988567" "0" "90" "6" "49419231" "49419231" "subst" "2.43857E-5" "00006" "MUT_000063" "g.49419231C>T" "1/20 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.49451518C>T" "" "pathogenic" "" "0000988568" "0" "90" "6" "49409685" "49409685" "subst" "2.8472E-5" "00006" "MUT_000055" "g.49409685C>T" "1/20 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.49441972C>T" "" "pathogenic" "" "0000988569" "0" "90" "6" "49403213" "49403213" "subst" "1.62512E-5" "00006" "MUT_000078" "g.49403213G>A" "1/20 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.49435500G>A" "" "pathogenic" "" "0000988570" "0" "70" "6" "49399563" "49399563" "subst" "0" "00006" "MUT_000072" "g.49399563C>A" "1/20 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.49431850C>A" "" "likely pathogenic" "" "0000995802" "0" "30" "6" "49419396" "49419396" "subst" "0.000488468" "01804" "MUT_000013" "g.49419396A>G" "" "" "" "MUT(NM_000255.3):c.1115T>C (p.I372T, p.(Ile372Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001007282" "1" "90" "6" "49416553" "49416553" "subst" "8.12883E-6" "00006" "MUT_000031" "g.49416553G>A" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.49448840G>A" "" "pathogenic" "" "0001007283" "3" "70" "6" "49403267" "49403267" "subst" "7.72427E-5" "00006" "MUT_000030" "g.49403267C>T" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "rs147715336" "0" "" "" "g.49435554C>T" "" "likely pathogenic" "" "0001007394" "2" "70" "6" "49403267" "49403267" "subst" "7.72427E-5" "00006" "MUT_000030" "g.49403267C>T" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "rs147715336" "0" "" "" "g.49435554C>T" "" "likely pathogenic" "" "0001025236" "0" "50" "6" "49423814" "49423814" "subst" "0.000572952" "02325" "MUT_000023" "g.49423814G>A" "" "" "" "MMUT(NM_000255.4):c.890C>T (p.T297I), MUT(NM_000255.3):c.890C>T (p.(Thr297Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035809" "0" "90" "6" "49408032" "49408032" "subst" "4.06491E-6" "01804" "MUT_000232" "g.49408032G>T" "" "" "" "MMUT(NM_000255.4):c.1843C>A (p.(Pro615Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001035810" "0" "50" "6" "49408064" "49408064" "subst" "0" "01804" "MUT_000233" "g.49408064A>G" "" "" "" "MMUT(NM_000255.4):c.1811T>C (p.(Val604Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035811" "0" "50" "6" "49412460" "49412460" "subst" "5.30283E-5" "01804" "MUT_000234" "g.49412460G>C" "" "" "" "MMUT(NM_000255.4):c.1568C>G (p.(Ser523Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035812" "0" "50" "6" "49419420" "49419420" "subst" "4.08357E-5" "01804" "MUT_000058" "g.49419420T>G" "" "" "" "MMUT(NM_000255.3):c.1091A>C (p.Y364S), MMUT(NM_000255.4):c.1091A>C (p.(Tyr364Ser), p.Y364S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035813" "0" "30" "6" "49425195" "49425195" "subst" "0" "01804" "MUT_000235" "g.49425195T>C" "" "" "" "MMUT(NM_000255.4):c.753+209A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035814" "0" "90" "6" "49425502" "49425502" "subst" "6.91203E-5" "01804" "MUT_000236" "g.49425502T>A" "" "" "" "MMUT(NM_000255.4):c.655A>T (p.(Asn219Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes MUT ## Count = 459 "{{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}}" "0000067269" "00014092" "50" "1115" "0" "1115" "0" "c.1115T>C" "r.(?)" "p.(Ile372Thr)" "6" "0000256073" "00014092" "50" "1115" "0" "1115" "0" "c.1115T>C" "r.(?)" "p.(Ile372Thr)" "" "0000280172" "00014092" "10" "1495" "0" "1495" "0" "c.1495G>A" "r.(?)" "p.(Ala499Thr)" "" "0000280173" "00014092" "10" "1595" "0" "1595" "0" "c.1595G>A" "r.(?)" "p.(Arg532His)" "" "0000280174" "00014092" "30" "1629" "0" "1629" "0" "c.1629C>T" "r.(?)" "p.(Ser543=)" "" "0000280175" "00014092" "50" "1991" "0" "1991" "0" "c.1991C>T" "r.(?)" "p.(Ala664Val)" "" "0000280176" "00014092" "10" "2011" "0" "2011" "0" "c.2011A>G" "r.(?)" "p.(Ile671Val)" "" "0000280177" "00014092" "10" "636" "0" "636" "0" "c.636G>A" "r.(?)" "p.(Lys212=)" "" "0000280178" "00014092" "10" "711" "0" "711" "0" "c.711A>G" "r.(?)" "p.(Pro237=)" "" "0000282693" "00014092" "10" "1595" "0" "1595" "0" "c.1595G>A" "r.(?)" "p.(Arg532His)" "" "0000282694" "00014092" "30" "1629" "0" "1629" "0" "c.1629C>T" "r.(?)" "p.(Ser543=)" "" "0000282695" "00014092" "10" "1676" "875" "1676" "875" "c.1676+875C>G" "r.(=)" "p.(=)" "" "0000282696" "00014092" "50" "1991" "0" "1991" "0" "c.1991C>T" "r.(?)" "p.(Ala664Val)" "" "0000282697" "00014092" "10" "2011" "0" "2011" "0" "c.2011A>G" "r.(?)" "p.(Ile671Val)" "" "0000282698" "00014092" "10" "636" "0" "636" "0" "c.636G>A" "r.(?)" "p.(Lys212=)" "" "0000286712" "00014092" "90" "1160" "0" "1160" "0" "c.1160C>T" "r.(?)" "p.(Thr387Ile)" "" "0000286713" "00014092" "10" "1595" "0" "1595" "0" "c.1595G>A" "r.(?)" "p.(Arg532His)" "" "0000286714" "00014092" "30" "1676" "77" "1676" "77" "c.1676+77A>C" "r.(=)" "p.(=)" "" "0000286715" "00014092" "10" "2011" "0" "2011" "0" "c.2011A>G" "r.(?)" "p.(Ile671Val)" "" "0000292214" "00014092" "30" "393" "0" "393" "0" "c.393G>A" "r.(?)" "p.(Gln131=)" "" "0000331067" "00014092" "50" "1906" "0" "1906" "0" "c.1906A>G" "r.(?)" "p.(Thr636Ala)" "" "0000331068" "00014092" "30" "890" "0" "890" "0" "c.890C>T" "r.(?)" "p.(Thr297Ile)" "" "0000342602" "00014092" "90" "91" "0" "91" "0" "c.91C>T" "r.(?)" "p.(Arg31Ter)" "" "0000405788" "00014092" "90" "1420" "0" "1420" "0" "c.1420C>T" "r.(?)" "p.(Arg474*)" "" "0000405789" "00014092" "70" "2026" "0" "2026" "0" "c.2026G>A" "r.(?)" "p.(Ala676Thr)" "" "0000405790" "00014092" "70" "2026" "0" "2026" "0" "c.2026G>A" "r.(?)" "p.(Ala676Thr)" "" "0000472315" "00014092" "55" "-39" "-38" "-39" "-38" "c.-39-38dup" "r.(=)" "p.(=)" "1i" "0000472316" "00014092" "35" "-39" "-38" "-39" "-38" "c.-39-38dup" "r.(=)" "p.(=)" "1i" "0000472317" "00014092" "15" "-39" "-38" "-39" "-38" "c.-39-38dup" "r.(=)" "p.(=)" "1i" "0000472318" "00014092" "55" "-39" "-38" "-39" "-38" "c.-39-38dup" "r.(=)" "p.(=)" "1i" "0000472319" "00014092" "55" "-39" "-38" "-39" "-38" "c.-39-38dup" "r.(=)" "p.(=)" "1i" "0000472320" "00014092" "55" "-39" "-37" "-39" "-37" "c.-39-37T>C" "r.(?)" "p.(=)" "1i" "0000472321" "00014092" "35" "-39" "-37" "-39" "-37" "c.-39-37T>C" "r.(?)" "p.(=)" "1i" "0000472322" "00014092" "15" "-17" "0" "-17" "0" "c.-17T>A" "r.(?)" "p.(=)" "2" "0000472323" "00014092" "55" "-13" "0" "-13" "0" "c.-13T>A" "r.(?)" "p.(=)" "2" "0000472324" "00014092" "55" "-11" "0" "-11" "0" "c.-11C>A" "r.(?)" "p.(=)" "2" "0000472325" "00014092" "55" "-6" "0" "-6" "0" "c.-6T>A" "r.(?)" "p.(=)" "2" "0000472326" "00014092" "55" "-6" "0" "-6" "0" "c.-6T>A" "r.(?)" "p.(=)" "2" "0000472327" "00014092" "55" "15" "0" "15" "0" "c.15G>A" "r.(?)" "p.(=)" "2" "0000472328" "00014092" "55" "15" "0" "15" "0" "c.15G>A" "r.(?)" "p.(=)" "2" "0000472329" "00014092" "95" "322" "0" "322" "0" "c.322C>T" "r.(?)" "p.(Arg108Cys)" "2" "0000472330" "00014092" "95" "322" "0" "322" "0" "c.322C>T" "r.(?)" "p.(Arg108Cys)" "2" "0000472331" "00014092" "55" "385" "8" "385" "8" "c.385+8T>C" "r.(?)" "p.(=)" "2i" "0000472332" "00014092" "55" "385" "9" "385" "9" "c.385+9T>C" "r.(?)" "p.(=)" "2i" "0000472333" "00014092" "55" "385" "9" "385" "9" "c.385+9T>C" "r.(?)" "p.(=)" "2" "0000472334" "00014092" "55" "385" "72" "385" "72" "c.385+72T>A" "r.(?)" "p.(=)" "2i" "0000472335" "00014092" "95" "385" "74" "385" "74" "c.385+74dup" "r.(=)" "p.(=)" "2i" "0000472336" "00014092" "55" "385" "74" "385" "74" "c.385+74dup" "r.(=)" "p.(=)" "2i" "0000528999" "00014092" "10" "2011" "0" "2011" "0" "c.2011A>G" "r.(?)" "p.(Ile671Val)" "" "0000529001" "00014092" "30" "1630" "0" "1630" "0" "c.1630G>A" "r.(?)" "p.(Gly544Arg)" "" "0000529003" "00014092" "10" "1595" "0" "1595" "0" "c.1595G>A" "r.(?)" "p.(Arg532His)" "" "0000529004" "00014092" "30" "1560" "7" "1560" "7" "c.1560+7A>G" "r.(=)" "p.(=)" "" "0000529005" "00014092" "90" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511Ter)" "" "0000529006" "00014092" "50" "1435" "0" "1435" "0" "c.1435A>G" "r.(?)" "p.(Ile479Val)" "" "0000529007" "00014092" "30" "1333" "-8" "1333" "-8" "c.1333-8C>T" "r.(=)" "p.(=)" "" "0000529008" "00014092" "10" "1333" "-18" "1333" "-18" "c.1333-18T>G" "r.(=)" "p.(=)" "" "0000529009" "00014092" "50" "878" "0" "878" "0" "c.878A>G" "r.(?)" "p.(Gln293Arg)" "" "0000529010" "00014092" "10" "754" "-7" "754" "-7" "c.754-7del" "r.(=)" "p.(=)" "" "0000529011" "00014092" "30" "754" "-7" "754" "-7" "c.754-7del" "r.(=)" "p.(=)" "" "0000529012" "00014092" "10" "754" "-7" "754" "-7" "c.754-7dup" "r.(=)" "p.(=)" "" "0000529013" "00014092" "90" "692" "0" "692" "0" "c.692dup" "r.(?)" "p.(Tyr231Ter)" "" "0000529014" "00014092" "70" "654" "0" "654" "0" "c.654A>C" "r.(?)" "p.(Gln218His)" "" "0000529015" "00014092" "10" "636" "0" "636" "0" "c.636G>A" "r.(?)" "p.(Lys212=)" "" "0000529016" "00014092" "50" "556" "0" "556" "0" "c.556A>G" "r.(?)" "p.(Met186Val)" "" "0000529017" "00014092" "70" "322" "0" "322" "0" "c.322C>T" "r.(?)" "p.(Arg108Cys)" "" "0000529018" "00014092" "30" "262" "0" "262" "0" "c.262G>A" "r.(?)" "p.(Val88Met)" "" "0000529019" "00014092" "30" "205" "0" "205" "0" "c.205A>G" "r.(?)" "p.(Ile69Val)" "" "0000610375" "00014092" "30" "2053" "0" "2053" "0" "c.2053C>A" "r.(?)" "p.(Leu685Ile)" "" "0000610376" "00014092" "30" "1008" "0" "1008" "0" "c.1008G>A" "r.(?)" "p.(Met336Ile)" "" "0000621716" "00014092" "50" "1906" "0" "1906" "0" "c.1906A>G" "r.(?)" "p.(Thr636Ala)" "" "0000621717" "00014092" "50" "1865" "0" "1865" "0" "c.1865T>C" "r.(?)" "p.(Met622Thr)" "" "0000651986" "00014092" "70" "1663" "0" "1663" "0" "c.1663G>A" "r.(?)" "p.(Ala555Thr)" "" "0000651987" "00014092" "50" "1417" "0" "1417" "0" "c.1417G>T" "r.(?)" "p.(Ala473Ser)" "" "0000651988" "00014092" "90" "1207" "0" "1207" "0" "c.1207C>T" "r.(?)" "p.(Arg403*)" "" "0000651989" "00014092" "90" "1106" "0" "1106" "0" "c.1106G>A" "r.(?)" "p.(Arg369His)" "" "0000651990" "00014092" "50" "1084" "-10" "1084" "-10" "c.1084-10A>G" "r.(=)" "p.(=)" "" "0000651991" "00014092" "90" "322" "0" "322" "0" "c.322C>T" "r.(?)" "p.(Arg108Cys)" "" "0000655602" "00014092" "90" "1106" "0" "1106" "0" "c.1106G>A" "r.(?)" "p.(Arg369His)" "" "0000655603" "00014092" "70" "418" "0" "418" "0" "c.418C>G" "r.(?)" "p.(Leu140Val)" "" "0000655604" "00014092" "50" "205" "0" "205" "0" "c.205A>G" "r.(?)" "p.(Ile69Val)" "" "0000673599" "00014092" "90" "1677" "-1" "1677" "-1" "c.1677-1G>A" "r.spl" "p.?" "" "0000673600" "00014092" "90" "1106" "0" "1106" "0" "c.1106G>A" "r.(?)" "p.(Arg369His)" "" "0000677793" "00014092" "30" "1959" "0" "1959" "0" "c.1959T>C" "r.(?)" "p.(Thr653=)" "" "0000677794" "00014092" "30" "878" "0" "878" "0" "c.878A>G" "r.(?)" "p.(Gln293Arg)" "" "0000689746" "00014092" "90" "322" "0" "322" "0" "c.322C>T" "r.(?)" "p.(Arg108Cys)" "" "0000720965" "00014092" "50" "2132" "0" "2132" "0" "c.2132A>T" "r.(?)" "p.(Glu711Val)" "" "0000720966" "00014092" "50" "1991" "0" "1991" "0" "c.1991C>T" "r.(?)" "p.(Ala664Val)" "" "0000720967" "00014092" "50" "1091" "0" "1091" "0" "c.1091A>C" "r.(?)" "p.(Tyr364Ser)" "" "0000802626" "00014092" "50" "1782" "0" "1786" "0" "c.1782_1786del" "r.(?)" "p.(Ser594Argfs*11)" "" "0000802627" "00014092" "30" "189" "0" "189" "0" "c.189C>A" "r.(?)" "p.(Thr63=)" "" "0000851244" "00014092" "50" "1091" "0" "1091" "0" "c.1091A>C" "r.(?)" "p.(Tyr364Ser)" "" "0000851245" "00014092" "50" "912" "-8" "912" "-8" "c.912-8T>A" "r.(=)" "p.(=)" "" "0000887276" "00014092" "90" "2179" "0" "2179" "0" "c.2179C>T" "r.(?)" "p.(Arg727*)" "" "0000887277" "00014092" "70" "1599" "0" "1599" "0" "c.1599T>A" "r.(?)" "p.(Cys533*)" "" "0000935902" "00014092" "90" "1280" "0" "1280" "0" "c.1280G>A" "r.(?)" "p.(Gly427Asp)" "" "0000936029" "00014092" "70" "2000" "0" "2000" "0" "c.2000A>G" "r.(?)" "p.(His667Arg)" "" "0000954427" "00014092" "70" "482" "0" "482" "0" "c.482G>T" "r.(?)" "p.(Gly161Val)" "3" "0000954428" "00014092" "90" "729" "0" "730" "0" "c.729_730insTT" "r.(?)" "p.(Asp244LeufsTer39)" "2" "0000954429" "00014092" "90" "1677" "-1" "1677" "-1" "c.1677-1G>A" "r.spl" "p.?" "9i" "0000954430" "00014092" "90" "1106" "0" "1106" "0" "c.1106G>A" "r.(?)" "p.(Arg369His)" "6" "0000954431" "00014092" "90" "103" "0" "103" "0" "c.103C>T" "r.(?)" "p.(Gln35Ter)" "2" "0000954432" "00014092" "70" "914" "0" "914" "0" "c.914T>C" "r.(?)" "p.(Leu305Ser)" "5" "0000954433" "00014092" "70" "346" "0" "346" "0" "c.346G>A" "r.(?)" "p.(Val116Met)" "2" "0000954434" "00014092" "70" "613" "0" "613" "0" "c.613G>A" "r.(?)" "p.(Glu205Lys)" "3" "0000954435" "00014092" "90" "729" "0" "730" "0" "c.729_730insTT" "r.(?)" "p.(Asp244LeufsTer39)" "2" "0000954436" "00014092" "70" "1280" "0" "1280" "0" "c.1280G>A" "r.(?)" "p.(Gly427Asp)" "6" "0000954437" "00014092" "90" "1677" "-1" "1677" "-1" "c.1677-1G>A" "r.spl" "p.?" "9i" "0000954438" "00014092" "90" "729" "0" "730" "0" "c.729_730insTT" "r.(?)" "p.(Asp244LeufsTer39)" "2" "0000954439" "00014092" "90" "729" "0" "730" "0" "c.729_730insTT" "r.(?)" "p.(Asp244LeufsTer39)" "2" "0000954440" "00014092" "90" "1106" "0" "1106" "0" "c.1106G>A" "r.(?)" "p.(Arg369His)" "6" "0000954441" "00014092" "70" "433" "0" "433" "0" "c.433G>T" "r.(?)" "p.(Gly145Cys)" "3" "0000954442" "00014092" "70" "288" "0" "289" "0" "c.288_289insA" "r.(?)" "p.(Pro97ThrfsTer7)" "2" "0000954443" "00014092" "90" "360" "0" "360" "0" "c.360dup" "r.(?)" "p.(Lys121Ter)" "2" "0000954444" "00014092" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Cys)" "6" "0000954445" "00014092" "90" "729" "0" "730" "0" "c.729_730insTT" "r.(?)" "p.(Asp244LeufsTer39)" "2" "0000954446" "00014092" "70" "914" "0" "914" "0" "c.914T>C" "r.(?)" "p.(Leu305Ser)" "5" "0000954447" "00014092" "90" "729" "0" "730" "0" "c.729_730insTT" "r.(?)" "p.(Asp244LeufsTer39)" "2" "0000954448" "00014092" "70" "925" "0" "925" "0" "c.925T>G" "r.(?)" "p.(Trp309Gly)" "5" "0000954449" "00014092" "70" "433" "0" "433" "0" "c.433G>A" "r.(?)" "p.(Gly145Ser)" "3" "0000954450" "00014092" "90" "626" "0" "626" "0" "c.626dup" "r.(?)" "p.(Lys210Ter)" "3" "0000954451" "00014092" "90" "729" "0" "730" "0" "c.729_730insTT" "r.(?)" "p.(Asp244LeufsTer39)" "2" "0000954452" "00014092" "90" "729" "0" "730" "0" "c.729_730insTT" "r.(?)" "p.(Asp244LeufsTer39)" "2" "0000954453" "00014092" "90" "1106" "0" "1106" "0" "c.1106G>A" "r.(?)" "p.(Arg369His)" "6" "0000954454" "00014092" "70" "1038" "0" "1040" "0" "c.1038_1040del" "r.(?)" "p.(Leu347del)" "5" "0000954455" "00014092" "90" "398" "0" "399" "0" "c.398_399del" "r.(?)" "p.(Gly133ValfsTer6)" "3" "0000954456" "00014092" "90" "103" "0" "103" "0" "c.103C>T" "r.(?)" "p.(Gln35Ter)" "2" "0000954457" "00014092" "70" "914" "0" "914" "0" "c.914T>C" "r.(?)" "p.(Leu305Ser)" "5" "0000954458" "00014092" "90" "729" "0" "730" "0" "c.729_730insTT" "r.(?)" "p.(Asp244LeufsTer39)" "2" "0000954459" "00014092" "90" "360" "0" "360" "0" "c.360dup" "r.(?)" "p.(Lys121Ter)" "2" "0000954460" "00014092" "70" "424" "0" "424" "0" "c.424A>G" "r.(?)" "p.(Thr142Ala)" "3" "0000954461" "00014092" "70" "323" "0" "323" "0" "c.323G>A" "r.(?)" "p.(Arg108His)" "2" "0000954462" "00014092" "90" "729" "0" "730" "0" "c.729_730insTT" "r.(?)" "p.(Asp244LeufsTer39)" "2" "0000954463" "00014092" "90" "810" "0" "811" "0" "c.810_811dup" "r.(?)" "p.(Ala271GlyfsTer12)" "4" "0000954464" "00014092" "70" "424" "0" "424" "0" "c.424A>G" "r.(?)" "p.(Thr142Ala)" "3" "0000954465" "00014092" "90" "729" "0" "730" "0" "c.729_730insTT" "r.(?)" "p.(Asp244LeufsTer39)" "2" "0000954466" "00014092" "90" "1560" "2" "1560" "2" "c.1560+2T>A" "r.spl" "p.?" "8i" "0000954467" "00014092" "90" "729" "0" "730" "0" "c.729_730insTT" "r.(?)" "p.(Asp244LeufsTer39)" "2" "0000954468" "00014092" "90" "1741" "0" "1741" "0" "c.1741C>T" "r.(?)" "p.(Arg581Ter)" "10" "0000954469" "00014092" "90" "729" "0" "730" "0" "c.729_730insTT" "r.(?)" "p.(Asp244LeufsTer39)" "2" "0000954470" "00014092" "90" "68" "0" "68" "0" "c.68C>G" "r.(?)" "p.(Ser23Ter)" "2" "0000954471" "00014092" "70" "914" "0" "914" "0" "c.914T>C" "r.(?)" "p.(Leu305Ser)" "5" "0000954472" "00014092" "90" "1106" "0" "1106" "0" "c.1106G>A" "r.(?)" "p.(Arg369His)" "6" "0000954473" "00014092" "70" "295" "0" "295" "0" "c.295A>C" "r.(?)" "p.(Met99Leu)" "2" "0000954474" "00014092" "70" "914" "0" "914" "0" "c.914T>C" "r.(?)" "p.(Leu305Ser)" "5" "0000954475" "00014092" "90" "1106" "0" "1106" "0" "c.1106G>A" "r.(?)" "p.(Arg369His)" "6" "0000954476" "00014092" "70" "654" "0" "654" "0" "c.654A>C" "r.(?)" "p.(Gln218His)" "3" "0000954477" "00014092" "50" "753" "0" "753" "0" "c.753G>T" "r.(?)" "p.(Lys251Asn)" "3" "0000954478" "00014092" "70" "-39" "-2" "-39" "-2" "c.-39-2A>G" "r.spl" "p.?" "1i" "0000954479" "00014092" "70" "1280" "0" "1280" "0" "c.1280G>A" "r.(?)" "p.(Gly427Asp)" "6" "0000954480" "00014092" "70" "494" "0" "494" "0" "c.494A>G" "r.(?)" "p.(Asp165Gly)" "3" "0000954481" "00014092" "70" "914" "0" "914" "0" "c.914T>C" "r.(?)" "p.(Leu305Ser)" "5" "0000954482" "00014092" "90" "729" "0" "730" "0" "c.729_730insTT" "r.(?)" "p.(Asp244LeufsTer39)" "2" "0000954483" "00014092" "70" "424" "0" "424" "0" "c.424A>G" "r.(?)" "p.(Thr142Ala)" "3" "0000954484" "00014092" "90" "729" "0" "730" "0" "c.729_730insTT" "r.(?)" "p.(Asp244LeufsTer39)" "2" "0000954485" "00014092" "70" "425" "0" "425" "0" "c.425C>T" "r.(?)" "p.(Thr142Ile)" "3" "0000954486" "00014092" "70" "323" "0" "323" "0" "c.323G>A" "r.(?)" "p.(Arg108His)" "2" "0000954487" "00014092" "70" "917" "0" "917" "0" "c.917C>T" "r.(?)" "p.(Ser306Phe)" "5" "0000954488" "00014092" "90" "103" "0" "103" "0" "c.103C>T" "r.(?)" "p.(Gln35Ter)" "2" "0000954489" "00014092" "90" "755" "0" "755" "0" "c.755dup" "r.(?)" "p.(His252GlnfsTer6)" "4" "0000954490" "00014092" "90" "729" "0" "730" "0" "c.729_730insTT" "r.(?)" "p.(Asp244LeufsTer39)" "2" "0000954491" "00014092" "90" "755" "0" "755" "0" "c.755dup" "r.(?)" "p.(His252GlnfsTer6)" "4" "0000954492" "00014092" "90" "729" "0" "730" "0" "c.729_730insTT" "r.(?)" "p.(Asp244LeufsTer39)" "2" "0000954493" "00014092" "70" "914" "0" "914" "0" "c.914T>C" "r.(?)" "p.(Leu305Ser)" "5" "0000954494" "00014092" "90" "349" "0" "349" "0" "c.349G>T" "r.(?)" "p.(Glu117Ter)" "2" "0000954495" "00014092" "90" "729" "0" "730" "0" "c.729_730insTT" "r.(?)" "p.(Asp244LeufsTer39)" "2" "0000954496" "00014092" "90" "1677" "-1" "1677" "-1" "c.1677-1G>A" "r.spl" "p.?" "9i" "0000954497" "00014092" "70" "914" "0" "914" "0" "c.914T>C" "r.(?)" "p.(Leu305Ser)" "5" "0000954498" "00014092" "90" "1106" "0" "1106" "0" "c.1106G>A" "r.(?)" "p.(Arg369His)" "6" "0000954499" "00014092" "90" "1153" "0" "1154" "0" "c.1153_1154del" "r.(?)" "p.(Leu385AlafsTer6)" "6" "0000954500" "00014092" "90" "729" "0" "730" "0" "c.729_730insTT" "r.(?)" "p.(Asp244LeufsTer39)" "2" "0000954501" "00014092" "90" "693" "0" "693" "0" "c.693C>A" "r.(?)" "p.(Tyr231Ter)" "2" "0000954502" "00014092" "70" "323" "0" "323" "0" "c.323G>A" "r.(?)" "p.(Arg108His)" "2" "0000954503" "00014092" "70" "683" "0" "683" "0" "c.683G>A" "r.(?)" "p.(Arg228Gln)" "3" "0000954504" "00014092" "90" "1106" "0" "1106" "0" "c.1106G>A" "r.(?)" "p.(Arg369His)" "6" "0000954505" "00014092" "90" "682" "0" "682" "0" "c.682C>T" "r.(?)" "p.(Arg228Ter)" "3" "0000954506" "00014092" "90" "753" "1" "753" "1" "c.753+1delinsTGGTTATTA" "r.spl" "p.?" "3" "0000954507" "00014092" "90" "729" "0" "730" "0" "c.729_730insTT" "r.(?)" "p.(Asp244LeufsTer39)" "2" "0000954508" "00014092" "90" "682" "0" "682" "0" "c.682C>T" "r.(?)" "p.(Arg228Ter)" "3" "0000954509" "00014092" "70" "323" "0" "323" "0" "c.323G>A" "r.(?)" "p.(Arg108His)" "2" "0000954510" "00014092" "90" "729" "0" "730" "0" "c.729_730insTT" "r.(?)" "p.(Asp244LeufsTer39)" "2" "0000954511" "00014092" "70" "842" "0" "842" "0" "c.842T>C" "r.(?)" "p.(Leu281Ser)" "4" "0000954512" "00014092" "90" "729" "0" "730" "0" "c.729_730insTT" "r.(?)" "p.(Asp244LeufsTer39)" "2" "0000954513" "00014092" "70" "482" "0" "482" "0" "c.482G>T" "r.(?)" "p.(Gly161Val)" "3" "0000954514" "00014092" "90" "682" "0" "682" "0" "c.682C>T" "r.(?)" "p.(Arg228Ter)" "3" "0000954515" "00014092" "50" "217" "0" "217" "0" "c.217T>C" "r.(?)" "p.(Tyr73His)" "2" "0000954516" "00014092" "70" "323" "0" "323" "0" "c.323G>A" "r.(?)" "p.(Arg108His)" "2" "0000954517" "00014092" "70" "1280" "0" "1280" "0" "c.1280G>A" "r.(?)" "p.(Gly427Asp)" "6" "0000954518" "00014092" "90" "1630" "0" "1631" "0" "c.1630_1631delinsTA" "r.(?)" "p.(Gly544Ter)" "9" "0000954519" "00014092" "70" "424" "0" "424" "0" "c.424A>G" "r.(?)" "p.(Thr142Ala)" "3" "0000954520" "00014092" "70" "441" "0" "441" "0" "c.441T>A" "r.(?)" "p.(Asp147Glu)" "3" "0000954521" "00014092" "70" "599" "0" "599" "0" "c.599T>C" "r.(?)" "p.(Ile200Thr)" "3" "0000954522" "00014092" "70" "323" "0" "323" "0" "c.323G>A" "r.(?)" "p.(Arg108His)" "2" "0000954523" "00014092" "70" "323" "0" "323" "0" "c.323G>A" "r.(?)" "p.(Arg108His)" "2" "0000954524" "00014092" "90" "729" "0" "730" "0" "c.729_730insTT" "r.(?)" "p.(Asp244LeufsTer39)" "2" "0000954525" "00014092" "90" "729" "0" "730" "0" "c.729_730insTT" "r.(?)" "p.(Asp244LeufsTer39)" "2" "0000954526" "00014092" "90" "729" "0" "730" "0" "c.729_730insTT" "r.(?)" "p.(Asp244LeufsTer39)" "2" "0000954527" "00014092" "90" "729" "0" "730" "0" "c.729_730insTT" "r.(?)" "p.(Asp244LeufsTer39)" "2" "0000954528" "00014092" "90" "729" "0" "730" "0" "c.729_730insTT" "r.(?)" "p.(Asp244LeufsTer39)" "2" "0000954529" "00014092" "90" "729" "0" "730" "0" "c.729_730insTT" "r.(?)" "p.(Asp244LeufsTer39)" "2" "0000954530" "00014092" "70" "1280" "0" "1280" "0" "c.1280G>A" "r.(?)" "p.(Gly427Asp)" "6" "0000954531" "00014092" "90" "1630" "0" "1631" "0" "c.1630_1631delinsTA" "r.(?)" "p.(Gly544Ter)" "9" "0000954532" "00014092" "70" "424" "0" "424" "0" "c.424A>G" "r.(?)" "p.(Thr142Ala)" "3" "0000954533" "00014092" "70" "441" "0" "441" "0" "c.441T>A" "r.(?)" "p.(Asp147Glu)" "3" "0000954534" "00014092" "70" "599" "0" "599" "0" "c.599T>C" "r.(?)" "p.(Ile200Thr)" "3" "0000954535" "00014092" "70" "323" "0" "323" "0" "c.323G>A" "r.(?)" "p.(Arg108His)" "2" "0000954536" "00014092" "70" "323" "0" "323" "0" "c.323G>A" "r.(?)" "p.(Arg108His)" "2" "0000954537" "00014092" "90" "729" "0" "730" "0" "c.729_730insTT" "r.(?)" "p.(Asp244LeufsTer39)" "2" "0000954538" "00014092" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "2" "0000954539" "00014092" "90" "22" "0" "22" "0" "c.22del" "r.(?)" "p.(Leu8PhefsTer9)" "2" "0000954540" "00014092" "90" "29" "0" "29" "0" "c.29dup" "r.(?)" "p.(Leu10PhefsTer39)" "2" "0000954541" "00014092" "90" "68" "0" "68" "0" "c.68C>G" "r.(?)" "p.(Ser23Ter)" "2" "0000954542" "00014092" "90" "91" "0" "91" "0" "c.91C>T" "r.(?)" "p.(Arg31Ter)" "2" "0000954543" "00014092" "90" "103" "0" "103" "0" "c.103C>T" "r.(?)" "p.(Gln35Ter)" "2" "0000954544" "00014092" "50" "217" "0" "217" "0" "c.217T>C" "r.(?)" "p.(Tyr73His)" "2" "0000954545" "00014092" "70" "260" "0" "260" "0" "c.260G>A" "r.(?)" "p.(Gly87Glu)" "2" "0000954546" "00014092" "90" "268" "0" "268" "0" "c.268delinsAA" "r.(?)" "p.(Pro90AsnfsTer14)" "2" "0000954547" "00014092" "70" "277" "0" "277" "0" "c.277C>T" "r.(?)" "p.(Arg93Cys)" "2" "0000954548" "00014092" "90" "278" "0" "278" "0" "c.278G>A" "r.(?)" "p.(Arg93His)" "2" "0000954549" "00014092" "70" "295" "0" "295" "0" "c.295A>C" "r.(?)" "p.(Met99Leu)" "2" "0000954550" "00014092" "90" "322" "0" "322" "0" "c.322C>T" "r.(?)" "p.(Arg108Cys)" "2" "0000954551" "00014092" "70" "326" "0" "326" "0" "c.326A>G" "r.(?)" "p.(Gln109Arg)" "2" "0000954552" "00014092" "50" "343" "0" "343" "0" "c.343A>G" "r.(?)" "p.(Thr115Ala)" "2" "0000954553" "00014092" "70" "346" "0" "346" "0" "c.346G>A" "r.(?)" "p.(Val116Met)" "2" "0000954554" "00014092" "90" "349" "0" "349" "0" "c.349G>T" "r.(?)" "p.(Glu117Ter)" "2" "0000954555" "00014092" "90" "360" "0" "360" "0" "c.360dup" "r.(?)" "p.(Lys121Ter)" "2" "0000954556" "00014092" "50" "389" "0" "389" "0" "c.389G>C" "r.(?)" "p.(Gly130Ala)" "3" "0000954557" "00014092" "90" "398" "0" "399" "0" "c.398_399del" "r.(?)" "p.(Gly133ValfsTer6)" "3" "0000954558" "00014092" "70" "419" "0" "419" "0" "c.419T>C" "r.(?)" "p.(Leu140Pro)" "3" "0000954559" "00014092" "70" "421" "0" "421" "0" "c.421G>A" "r.(?)" "p.(Ala141Thr)" "3" "0000954560" "00014092" "70" "428" "0" "428" "0" "c.428A>G" "r.(?)" "p.(His143Arg)" "3" "0000954561" "00014092" "70" "431" "0" "431" "0" "c.431G>A" "r.(?)" "p.(Arg144His)" "3" "0000954562" "00014092" "70" "433" "0" "433" "0" "c.433G>A" "r.(?)" "p.(Gly145Ser)" "3" "0000954563" "00014092" "70" "446" "0" "446" "0" "c.446A>G" "r.(?)" "p.(Asp149Gly)" "3" "0000954564" "00014092" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152Ter)" "3" "0000954565" "00014092" "50" "457" "0" "457" "0" "c.457G>A" "r.(?)" "p.(Val153Ile)" "3" "0000954566" "00014092" "70" "461" "0" "461" "0" "c.461G>A" "r.(?)" "p.(Arg154His)" "2" "0000954567" "00014092" "70" "467" "0" "467" "0" "c.467A>T" "r.(?)" "p.(Asp156Val)" "3" "0000954568" "00014092" "70" "470" "0" "470" "0" "c.470T>A" "r.(?)" "p.(Val157Asp)" "3" "0000954569" "00014092" "70" "494" "0" "494" "0" "c.494A>G" "r.(?)" "p.(Asp165Gly)" "3" "0000954570" "00014092" "90" "544" "0" "544" "0" "c.544dup" "r.(?)" "p.(Met182AsnfsTer29)" "3" "0000954571" "00014092" "70" "554" "0" "554" "0" "c.554C>T" "r.(?)" "p.(Ser185Phe)" "3" "0000954572" "00014092" "70" "556" "0" "556" "0" "c.556A>G" "r.(?)" "p.(Met186Val)" "3" "0000954573" "00014092" "70" "566" "0" "566" "0" "c.566A>G" "r.(?)" "p.(Asn189Ser)" "3" "0000954574" "00014092" "70" "567" "0" "567" "0" "c.567T>G" "r.(?)" "p.(Asn189Lys)" "3" "0000954575" "00014092" "70" "569" "0" "569" "0" "c.569G>T" "r.(?)" "p.(Gly190Val)" "2" "0000954576" "00014092" "70" "578" "0" "578" "0" "c.578T>A" "r.(?)" "p.(Ile193Asn)" "3" "0000954577" "00014092" "70" "581" "0" "581" "0" "c.581C>T" "r.(?)" "p.(Pro194Leu)" "3" "0000954578" "00014092" "70" "590" "0" "590" "0" "c.590C>A" "r.(?)" "p.(Ala197Glu)" "3" "0000954579" "00014092" "70" "613" "0" "613" "0" "c.613G>A" "r.(?)" "p.(Glu205Lys)" "3" "0000954580" "00014092" "90" "626" "0" "626" "0" "c.626dup" "r.(?)" "p.(Lys210Ter)" "3" "0000954581" "00014092" "70" "655" "0" "655" "0" "c.655A>G" "r.(?)" "p.(Asn219Asp)" "3" "0000954582" "00014092" "70" "659" "0" "659" "0" "c.659A>T" "r.(?)" "p.(Asp220Val)" "3" "0000954583" "00014092" "90" "682" "0" "682" "0" "c.682C>T" "r.(?)" "p.(Arg228Ter)" "3" "0000954584" "00014092" "70" "683" "0" "683" "0" "c.683G>A" "r.(?)" "p.(Arg228Gln)" "3" "0000954585" "00014092" "90" "693" "0" "693" "0" "c.693C>A" "r.(?)" "p.(Tyr231Ter)" "2" "0000954586" "00014092" "90" "693" "0" "693" "0" "c.693C>G" "r.(?)" "p.(Tyr231Ter)" "2" "0000954587" "00014092" "70" "694" "0" "694" "0" "c.694A>T" "r.(?)" "p.(Ile232Phe)" "3" "0000954588" "00014092" "90" "699" "0" "699" "0" "c.699dup" "r.(?)" "p.(Pro234SerfsTer11)" "3" "0000954589" "00014092" "70" "724" "0" "724" "0" "c.724A>T" "r.(?)" "p.(Ile242Phe)" "3" "0000954590" "00014092" "70" "742" "0" "742" "0" "c.742T>A" "r.(?)" "p.(Tyr248Asn)" "3" "0000954591" "00014092" "50" "753" "3" "753" "3" "c.753+3A>G" "r.spl" "p.?" "3i" "0000954592" "00014092" "90" "754" "-1" "754" "-1" "c.754-1G>C" "r.spl" "p.?" "4" "0000954593" "00014092" "90" "755" "0" "755" "0" "c.755dup" "r.(?)" "p.(His252GlnfsTer6)" "4" "0000954594" "00014092" "70" "788" "0" "788" "0" "c.788G>T" "r.(?)" "p.(Gly263Val)" "4" "0000954595" "00014092" "90" "810" "0" "811" "0" "c.810_811dup" "r.(?)" "p.(Ala271GlyfsTer12)" "4" "0000954596" "00014092" "70" "860" "0" "860" "0" "c.860A>G" "r.(?)" "p.(Tyr287Cys)" "4" "0000954597" "00014092" "90" "861" "0" "861" "0" "c.861C>G" "r.(?)" "p.(Tyr287Ter)" "4" "0000954598" "00014092" "70" "865" "0" "865" "0" "c.865A>G" "r.(?)" "p.(Arg289Gly)" "4" "0000954599" "00014092" "50" "881" "0" "881" "0" "c.881C>A" "r.(?)" "p.(Ala294Asp)" "4" "0000954600" "00014092" "70" "914" "0" "914" "0" "c.914T>C" "r.(?)" "p.(Leu305Ser)" "5" "0000954601" "00014092" "90" "920" "0" "923" "0" "c.920_923del" "r.(?)" "p.(Phe307SerfsTer6)" "5" "0000954602" "00014092" "70" "925" "0" "925" "0" "c.925T>G" "r.(?)" "p.(Trp309Gly)" "5" "0000954603" "00014092" "90" "944" "0" "944" "0" "c.944dup" "r.(?)" "p.(Tyr316LeufsTer11)" "5" "0000954604" "00014092" "70" "947" "0" "947" "0" "c.947A>C" "r.(?)" "p.(Tyr316Ser)" "5" "0000954605" "00014092" "70" "965" "0" "965" "0" "c.965T>A" "r.(?)" "p.(Met322Lys)" "5" "0000954606" "00014092" "70" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Ala324Thr)" "5" "0000954607" "00014092" "90" "975" "0" "976" "0" "c.975_976del" "r.spl" "p.?" "5" "0000954608" "00014092" "70" "1009" "0" "1009" "0" "c.1009T>C" "r.(?)" "p.(Phe337Leu)" "5" "0000954609" "00014092" "70" "1038" "0" "1040" "0" "c.1038_1040del" "r.(?)" "p.(Leu347del)" "5" "0000954610" "00014092" "70" "1061" "0" "1061" "0" "c.1061C>T" "r.(?)" "p.(Ser354Phe)" "5" "0000954611" "00014092" "90" "1070" "0" "1070" "0" "c.1070C>G" "r.(?)" "p.(Ser357Ter)" "5" "0000954612" "00014092" "50" "1084" "-33" "1084" "-30" "c.1084-33_1084-30del" "r.spl" "p.?" "5i" "0000954613" "00014092" "90" "1084" "-10" "1084" "-10" "c.1084-10A>G" "r.spl" "p.?" "5i" "0000954614" "00014092" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Cys)" "6" "0000954615" "00014092" "90" "1106" "0" "1106" "0" "c.1106G>A" "r.(?)" "p.(Arg369His)" "6" "0000954616" "00014092" "90" "1107" "0" "1107" "0" "c.1107dup" "r.(?)" "p.(Thr370TyrfsTer22)" "6" "0000954617" "00014092" "70" "1138" "0" "1138" "0" "c.1138G>A" "r.(?)" "p.(Gly380Arg)" "6" "0000954618" "00014092" "70" "1141" "0" "1141" "0" "c.1141G>A" "r.(?)" "p.(Gly381Arg)" "6" "0000954619" "00014092" "50" "1142" "0" "1142" "0" "c.1142G>A" "r.(?)" "p.(Gly381Glu)" "6" "0000954620" "00014092" "90" "1153" "0" "1154" "0" "c.1153_1154del" "r.(?)" "p.(Leu385AlafsTer6)" "6" "0000954621" "00014092" "70" "1154" "0" "1154" "0" "c.1154T>G" "r.(?)" "p.(Leu385Trp)" "6" "0000954622" "00014092" "90" "1159" "0" "1159" "0" "c.1159A>C" "r.(?)" "p.(Thr387Pro)" "6" "0000954623" "00014092" "90" "1207" "0" "1207" "0" "c.1207C>T" "r.(?)" "p.(Arg403Ter)" "6" "0000954624" "00014092" "50" "1208" "0" "1208" "0" "c.1208G>A" "r.(?)" "p.(Arg403Gln)" "6" "0000954625" "00014092" "70" "1233" "0" "1235" "0" "c.1233_1235del" "r.(?)" "p.(Ile412del)" "6" "0000954626" "00014092" "70" "1241" "0" "1249" "0" "c.1241_1249del" "r.(?)" "p.(Glu414_Ser416del)" "6" "0000954627" "00014092" "70" "1267" "0" "1267" "0" "c.1267G>C" "r.(?)" "p.(Asp423His)" "6" "0000954628" "00014092" "70" "1295" "0" "1295" "0" "c.1295A>C" "r.(?)" "p.(Glu432Ala)" "6" "0000954629" "00014092" "90" "1330" "0" "1330" "0" "c.1330A>T" "r.(?)" "p.(Lys444Ter)" "6" "0000954630" "00014092" "50" "1349" "0" "1349" "0" "c.1349A>G" "r.(?)" "p.(Glu450Gly)" "7" "0000954631" "00014092" "90" "1359" "0" "1359" "0" "c.1359del" "r.(?)" "p.(Gly454GlufsTer6)" "7" "0000954632" "00014092" "90" "1399" "0" "1399" "0" "c.1399C>T" "r.(?)" "p.(Arg467Ter)" "7" "0000954633" "00014092" "90" "1420" "0" "1420" "0" "c.1420C>T" "r.(?)" "p.(Arg474Ter)" "7" "0000954634" "00014092" "70" "1439" "0" "1439" "0" "c.1439A>G" "r.(?)" "p.(Asp480Gly)" "7" "0000954635" "00014092" "50" "1474" "0" "1474" "0" "c.1474T>A" "r.(?)" "p.(Tyr492Asn)" "8" "0000954636" "00014092" "70" "1514" "0" "1514" "0" "c.1514T>C" "r.(?)" "p.(Ile505Thr)" "8" "0000954637" "00014092" "90" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511Ter)" "8" "0000954638" "00014092" "90" "1537" "0" "1538" "0" "c.1537_1538insT" "r.(?)" "p.(Arg513MetfsTer4)" "8" "0000954639" "00014092" "70" "1540" "0" "1540" "0" "c.1540C>A" "r.(?)" "p.(Gln514Lys)" "8" "0000954640" "00014092" "70" "1540" "0" "1540" "0" "c.1540C>T" "r.(?)" "p.(Gln514Ter)" "8" "0000954641" "00014092" "90" "1591" "0" "1591" "0" "c.1591del" "r.(?)" "p.(Glu531AsnfsTer7)" "9" "0000954642" "00014092" "10" "1595" "0" "1595" "0" "c.1595G>A" "r.(?)" "p.(Arg532His)" "9" "0000954643" "00014092" "70" "1610" "0" "1610" "0" "c.1610T>A" "r.(?)" "p.(Leu537Gln)" "9" "0000954644" "00014092" "90" "1663" "0" "1663" "0" "c.1663G>A" "r.(?)" "p.(Ala555Thr)" "9" "0000954645" "00014092" "50" "1673" "0" "1673" "0" "c.1673C>T" "r.(?)" "p.(Ala558Val)" "9" "0000954646" "00014092" "90" "1677" "-1" "1677" "-1" "c.1677-1G>A" "r.spl" "p.?" "9i" "0000954647" "00014092" "70" "1679" "0" "1679" "0" "c.1679G>A" "r.(?)" "p.(Cys560Tyr)" "10" "0000954648" "00014092" "50" "1687" "0" "1687" "0" "c.1687G>C" "r.(?)" "p.(Gly563Arg)" "10" "0000954649" "00014092" "70" "1718" "0" "1718" "0" "c.1718T>C" "r.(?)" "p.(Phe573Ser)" "10" "0000954650" "00014092" "90" "1741" "0" "1741" "0" "c.1741C>T" "r.(?)" "p.(Arg581Ter)" "10" "0000954651" "00014092" "90" "1777" "0" "1777" "0" "c.1777G>T" "r.(?)" "p.(Glu593Ter)" "10" "0000954652" "00014092" "90" "1782" "0" "1786" "0" "c.1782_1786del" "r.(?)" "p.(Ser594ArgfsTer11)" "10" "0000954653" "00014092" "90" "1784" "0" "1785" "0" "c.1784_1785del" "r.(?)" "p.(Lys595ArgfsTer11)" "10" "0000954654" "00014092" "70" "1790" "0" "1790" "0" "c.1790T>G" "r.(?)" "p.(Ile597Arg)" "10" "0000954655" "00014092" "50" "1807" "0" "1807" "0" "c.1807A>T" "r.(?)" "p.(Arg603Trp)" "10" "0000954656" "00014092" "70" "1846" "0" "1846" "0" "c.1846C>T" "r.(?)" "p.(Arg616Cys)" "11" "0000954657" "00014092" "50" "1847" "0" "1847" "0" "c.1847G>A" "r.(?)" "p.(Arg616His)" "11" "0000954658" "00014092" "50" "1850" "0" "1850" "0" "c.1850T>G" "r.(?)" "p.(Leu617Arg)" "11" "0000954659" "00014092" "70" "1853" "0" "1853" "0" "c.1853T>C" "r.(?)" "p.(Leu618Pro)" "11" "0000954660" "00014092" "70" "1874" "0" "1874" "0" "c.1874A>C" "r.(?)" "p.(Asp625Ala)" "11" "0000954661" "00014092" "70" "1880" "0" "1880" "0" "c.1880A>G" "r.(?)" "p.(His627Arg)" "11" "0000954662" "00014092" "50" "1919" "0" "1919" "0" "c.1919A>T" "r.(?)" "p.(Asp640Val)" "11" "0000954663" "00014092" "70" "1943" "0" "1943" "0" "c.1943G>A" "r.(?)" "p.(Gly648Asp)" "11" "0000954664" "00014092" "50" "1963" "0" "1963" "0" "c.1963C>T" "r.(?)" "p.(Arg655Cys)" "12" "0000954665" "00014092" "70" "2009" "0" "2009" "0" "c.2009G>T" "r.(?)" "p.(Gly670Val)" "12" "0000954666" "00014092" "10" "2011" "0" "2011" "0" "c.2011A>G" "r.(?)" "p.(Ile671Val)" "12" "0000954667" "00014092" "90" "2062" "0" "2062" "0" "c.2062G>T" "r.(?)" "p.(Glu688Ter)" "12" "0000954668" "00014092" "90" "2080" "0" "2080" "0" "c.2080C>T" "r.(?)" "p.(Arg694Trp)" "12" "0000954669" "00014092" "70" "2106" "0" "2106" "0" "c.2106del" "r.(?)" "p.(Val704Ter)" "12" "0000954670" "00014092" "70" "2107" "0" "2107" "0" "c.2107G>A" "r.(?)" "p.(Gly703Arg)" "12" "0000954671" "00014092" "70" "2125" "-2" "2125" "-2" "c.2125-2A>G" "r.spl" "p.?" "12i" "0000954672" "00014092" "90" "2131" "0" "2131" "0" "c.2131G>T" "r.(?)" "p.(Glu711Ter)" "13" "0000954673" "00014092" "90" "2150" "0" "2150" "0" "c.2150G>T" "r.(?)" "p.(Gly717Val)" "13" "0000954674" "00014092" "70" "2168" "0" "2168" "0" "c.2168G>A" "r.(?)" "p.(Gly723Asp)" "13" "0000954675" "00014092" "90" "2179" "0" "2179" "0" "c.2179C>T" "r.(?)" "p.(Arg727Ter)" "13" "0000954676" "00014092" "70" "2206" "0" "2206" "0" "c.2206C>T" "r.(?)" "p.(Leu736Phe)" "13" "0000954677" "00014092" "70" "2216" "0" "2216" "0" "c.2216T>C" "r.(?)" "p.(Ile739Thr)" "13" "0000954678" "00014092" "90" "" "0" "" "0" "c.(-40+1_-39-1)_*1368{0}" "r.0?" "p.0?" "1i_13_" "0000954679" "00014092" "90" "1677" "-1" "1956" "1" "c.(1676+1_1677-1)_(1956+1_1957-1)del" "r.?" "p.?" "9i_11i" "0000954680" "00014092" "90" "1957" "-1" "2124" "1" "c.(1956+1_1957-1)_(2124+1_2125-1)del" "r.?" "p.?" "11i_12i" "0000954681" "00014092" "90" "" "0" "" "0" "c.(2124+1_2125-1)_*1368{0}" "r.?" "p.?" "12i_13_" "0000954682" "00014092" "90" "1106" "0" "1106" "0" "c.1106G>A" "r.(?)" "p.(Arg369His)" "6" "0000954683" "00014092" "90" "2179" "0" "2179" "0" "c.2179C>T" "r.(?)" "p.(Arg727Ter)" "13" "0000954684" "00014092" "90" "1957" "-1" "2124" "1" "c.(1956+1_1957-1)_(2124+1_2125-1)del" "r.?" "p.?" "11i_12i" "0000954685" "00014092" "90" "755" "0" "755" "0" "c.755dup" "r.(?)" "p.(His252GlnfsTer6)" "4" "0000954686" "00014092" "90" "1630" "0" "1631" "0" "c.1630_1631delinsTA" "r.(?)" "p.(Gly544Ter)" "9" "0000954687" "00014092" "90" "1677" "-5" "1690" "0" "c.1677-5_1690del" "r.spl" "p.(Cys560AsnfsTer11)" "9i" "0000954688" "00014092" "70" "982" "0" "982" "0" "c.982C>T" "r.(?)" "p.(Leu328Phe)" "5" "0000954689" "00014092" "90" "1956" "1" "1956" "1" "c.1956+1del" "r.spl" "p.?" "11i" "0000954690" "00014092" "90" "1677" "-1" "1677" "-1" "c.1677-1G>A" "r.spl" "p.?" "9i" "0000954691" "00014092" "70" "2157" "0" "2157" "0" "c.2157del" "r.(?)" "p.(Asn720MetfsTer38)" "13" "0000954692" "00014092" "70" "1679" "0" "1679" "0" "c.1679G>A" "r.(?)" "p.(Cys560Tyr)" "10" "0000954693" "00014092" "90" "1677" "-1" "1677" "-1" "c.1677-1G>A" "r.spl" "p.?" "9i" "0000954694" "00014092" "90" "2179" "0" "2179" "0" "c.2179C>T" "r.(?)" "p.(Arg727Ter)" "13" "0000954695" "00014092" "90" "1159" "0" "1159" "0" "c.1159A>C" "r.(?)" "p.(Thr387Pro)" "6" "0000954696" "00014092" "90" "1677" "-1" "1677" "-1" "c.1677-1G>A" "r.spl" "p.?" "9i" "0000954697" "00014092" "70" "323" "0" "323" "0" "c.323G>A" "r.(?)" "p.(Arg108His)" "2" "0000954698" "00014092" "70" "914" "0" "914" "0" "c.914T>C" "r.(?)" "p.(Leu305Ser)" "5" "0000954699" "00014092" "70" "1233" "0" "1235" "0" "c.1233_1235del" "r.(?)" "p.(Ile412del)" "6" "0000954700" "00014092" "90" "1445" "-2" "1445" "-2" "c.1445-2A>G" "r.spl" "p.?" "7i" "0000954701" "00014092" "90" "1630" "0" "1631" "0" "c.1630_1631delinsTA" "r.(?)" "p.(Gly544Ter)" "9" "0000954702" "00014092" "70" "1809" "-1" "1809" "-1" "c.1809-1G>A" "r.spl" "p.?" "10i" "0000954703" "00014092" "90" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511Ter)" "8" "0000954704" "00014092" "70" "1151" "0" "1151" "0" "c.1151C>T" "r.(?)" "p.(Ser384Phe)" "6" "0000954705" "00014092" "90" "1106" "0" "1106" "0" "c.1106G>A" "r.(?)" "p.(Arg369His)" "6" "0000954706" "00014092" "70" "461" "0" "461" "0" "c.461G>A" "r.(?)" "p.(Arg154His)" "2" "0000954707" "00014092" "70" "1141" "0" "1141" "0" "c.1141G>A" "r.(?)" "p.(Gly381Arg)" "6" "0000954708" "00014092" "70" "494" "0" "494" "0" "c.494A>G" "r.(?)" "p.(Asp165Gly)" "3" "0000954709" "00014092" "70" "1280" "0" "1280" "0" "c.1280G>A" "r.(?)" "p.(Gly427Asp)" "6" "0000954710" "00014092" "90" "1159" "0" "1159" "0" "c.1159A>C" "r.(?)" "p.(Thr387Pro)" "6" "0000954711" "00014092" "70" "914" "0" "914" "0" "c.914T>C" "r.(?)" "p.(Leu305Ser)" "5" "0000954712" "00014092" "70" "925" "0" "925" "0" "c.925T>G" "r.(?)" "p.(Trp309Gly)" "5" "0000954713" "00014092" "70" "1138" "0" "1138" "0" "c.1138G>A" "r.(?)" "p.(Gly380Arg)" "6" "0000954714" "00014092" "90" "1106" "0" "1106" "0" "c.1106G>A" "r.(?)" "p.(Arg369His)" "6" "0000954715" "00014092" "90" "729" "0" "730" "0" "c.729_730insTT" "r.(?)" "p.(Asp244LeufsTer39)" "2" "0000954716" "00014092" "70" "2131" "0" "2131" "0" "c.2131del" "r.(?)" "p.(Glu711AsnfsTer47)" "13" "0000954717" "00014092" "90" "1677" "-1" "1677" "-1" "c.1677-1G>A" "r.spl" "p.?" "9i" "0000954718" "00014092" "70" "1760" "0" "1760" "0" "c.1760A>G" "r.(?)" "p.(Tyr587Cys)" "10" "0000954719" "00014092" "90" "2179" "0" "2179" "0" "c.2179C>T" "r.(?)" "p.(Arg727Ter)" "13" "0000954720" "00014092" "90" "1630" "0" "1631" "0" "c.1630_1631delinsTA" "r.(?)" "p.(Gly544Ter)" "9" "0000954721" "00014092" "90" "1741" "0" "1741" "0" "c.1741C>T" "r.(?)" "p.(Arg581Ter)" "10" "0000954722" "00014092" "90" "1359" "0" "1359" "0" "c.1359del" "r.(?)" "p.(Gly454GlufsTer6)" "7" "0000954723" "00014092" "70" "914" "0" "914" "0" "c.914T>C" "r.(?)" "p.(Leu305Ser)" "5" "0000954724" "00014092" "90" "1677" "-1" "1677" "-1" "c.1677-1G>A" "r.spl" "p.?" "9i" "0000954725" "00014092" "10" "2011" "0" "2011" "0" "c.2011A>G" "r.(?)" "p.(Ile671Val)" "12" "0000954726" "00014092" "90" "729" "0" "730" "0" "c.729_730insTT" "r.(?)" "p.(Asp244LeufsTer39)" "2" "0000954727" "00014092" "90" "1630" "0" "1631" "0" "c.1630_1631delinsTA" "r.(?)" "p.(Gly544Ter)" "9" "0000954728" "00014092" "70" "1678" "0" "1678" "0" "c.1678T>C" "r.(?)" "p.(Cys560Arg)" "10" "0000954729" "00014092" "90" "1106" "0" "1106" "0" "c.1106G>A" "r.(?)" "p.(Arg369His)" "6" "0000954730" "00014092" "90" "1741" "0" "1741" "0" "c.1741C>T" "r.(?)" "p.(Arg581Ter)" "10" "0000954731" "00014092" "90" "1159" "0" "1159" "0" "c.1159A>C" "r.(?)" "p.(Thr387Pro)" "6" "0000954732" "00014092" "70" "496" "0" "496" "0" "c.496A>C" "r.(?)" "p.(Thr166Pro)" "3" "0000954733" "00014092" "70" "967" "0" "967" "0" "c.967A>G" "r.(?)" "p.(Arg323Gly)" "5" "0000954734" "00014092" "90" "2179" "0" "2179" "0" "c.2179C>T" "r.(?)" "p.(Arg727Ter)" "13" "0000954735" "00014092" "90" "682" "0" "682" "0" "c.682C>T" "r.(?)" "p.(Arg228Ter)" "3" "0000954736" "00014092" "90" "1148" "0" "1148" "0" "c.1148dup" "r.(?)" "p.(Ser384ValfsTer8)" "6" "0000954737" "00014092" "90" "912" "-2" "912" "-2" "c.912-2A>T" "r.spl" "p.?" "4i" "0000954738" "00014092" "90" "1399" "0" "1399" "0" "c.1399C>T" "r.(?)" "p.(Arg467Ter)" "7" "0000954739" "00014092" "70" "982" "0" "982" "0" "c.982C>T" "r.(?)" "p.(Leu328Phe)" "5" "0000954740" "00014092" "70" "987" "0" "987" "0" "c.987G>T" "r.(?)" "p.(Trp329Cys)" "5" "0000954741" "00014092" "90" "1106" "0" "1106" "0" "c.1106G>A" "r.(?)" "p.(Arg369His)" "6" "0000954742" "00014092" "90" "1106" "0" "1106" "0" "c.1106G>A" "r.(?)" "p.(Arg369His)" "6" "0000954743" "00014092" "90" "" "0" "" "0" "c.(2124+1_2125-1)_*1368{0}" "r.?" "p.?" "12i_13_" "0000954744" "00014092" "90" "1677" "-1" "1677" "-1" "c.1677-1G>A" "r.spl" "p.?" "9i" "0000954745" "00014092" "70" "1280" "0" "1280" "0" "c.1280G>A" "r.(?)" "p.(Gly427Asp)" "6" "0000954746" "00014092" "90" "1677" "-1" "1677" "-1" "c.1677-1G>A" "r.spl" "p.?" "9i" "0000954747" "00014092" "90" "1630" "0" "1631" "0" "c.1630_1631delinsTA" "r.(?)" "p.(Gly544Ter)" "9" "0000954748" "00014092" "90" "1677" "-1" "1677" "-1" "c.1677-1G>A" "r.spl" "p.?" "9i" "0000954749" "00014092" "90" "810" "0" "811" "0" "c.810_811dup" "r.(?)" "p.(Ala271GlyfsTer12)" "4" "0000954750" "00014092" "70" "1280" "0" "1280" "0" "c.1280G>A" "r.(?)" "p.(Gly427Asp)" "6" "0000954751" "00014092" "70" "1154" "0" "1154" "0" "c.1154T>G" "r.(?)" "p.(Leu385Trp)" "6" "0000954752" "00014092" "90" "1153" "0" "1154" "0" "c.1153_1154del" "r.(?)" "p.(Leu385AlafsTer6)" "6" "0000954753" "00014092" "90" "1106" "0" "1106" "0" "c.1106G>A" "r.(?)" "p.(Arg369His)" "6" "0000954754" "00014092" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152Ter)" "3" "0000954755" "00014092" "70" "1286" "0" "1286" "0" "c.1286A>G" "r.(?)" "p.(Tyr429Cys)" "6" "0000954756" "00014092" "70" "1280" "0" "1280" "0" "c.1280G>A" "r.(?)" "p.(Gly427Asp)" "6" "0000954757" "00014092" "90" "1106" "0" "1106" "0" "c.1106G>A" "r.(?)" "p.(Arg369His)" "6" "0000954758" "00014092" "70" "326" "0" "326" "0" "c.326A>G" "r.(?)" "p.(Gln109Arg)" "2" "0000954759" "00014092" "70" "914" "0" "914" "0" "c.914T>C" "r.(?)" "p.(Leu305Ser)" "5" "0000954760" "00014092" "50" "1690" "0" "1690" "0" "c.1690G>A" "r.(?)" "p.(Glu564Lys)" "10" "0000954761" "00014092" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Cys)" "6" "0000964163" "00014092" "10" "2454" "0" "2454" "0" "c.*201del" "r.(?)" "p.(=)" "" "0000964164" "00014092" "70" "983" "0" "983" "0" "c.983T>C" "r.(?)" "p.(Leu328Pro)" "" "0000964165" "00014092" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "" "0000977273" "00014092" "50" "1429" "0" "1429" "0" "c.1429G>A" "r.(?)" "p.(Ala477Thr)" "" "0000977274" "00014092" "50" "1296" "0" "1296" "0" "c.1296A>C" "r.(?)" "p.(Glu432Asp)" "" "0000977275" "00014092" "50" "1125" "0" "1125" "0" "c.1125G>A" "r.(?)" "p.(Met375Ile)" "" "0000977276" "00014092" "50" "133" "0" "133" "0" "c.133G>A" "r.(?)" "p.(Ala45Thr)" "" "0000988561" "00014092" "70" "1663" "0" "1663" "0" "c.1663G>A" "r.(?)" "p.(Ala555Thr)" "" "0000988562" "00014092" "90" "729" "0" "730" "0" "c.729_730insTT" "r.(?)" "p.(Asp244LeufsTer39)" "" "0000988563" "00014092" "90" "322" "0" "322" "0" "c.322C>T" "r.(?)" "p.(Arg108Cys)" "" "0000988564" "00014092" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152Ter)" "" "0000988565" "00014092" "50" "581" "0" "581" "0" "c.581C>T" "r.(?)" "p.(Pro194Leu)" "" "0000988566" "00014092" "70" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000988567" "00014092" "90" "1280" "0" "1280" "0" "c.1280G>A" "r.(?)" "p.(Gly427Asp)" "" "0000988568" "00014092" "90" "1677" "-1" "1677" "-1" "c.1677-1G>A" "r.spl" "p.(Arg559Serfs*14)" "" "0000988569" "00014092" "90" "2080" "0" "2080" "0" "c.2080C>T" "r.(?)" "p.(Arg694Trp)" "" "0000988570" "00014092" "70" "2131" "0" "2131" "0" "c.2131G>T" "r.(?)" "p.(Glu711Ter)" "" "0000995802" "00014092" "30" "1115" "0" "1115" "0" "c.1115T>C" "r.(?)" "p.(Ile372Thr)" "" "0001007282" "00014092" "90" "1420" "0" "1420" "0" "c.1420C>T" "r.(?)" "p.(Arg474Ter)" "" "0001007283" "00014092" "70" "2026" "0" "2026" "0" "c.2026G>A" "r.(?)" "p.(Ala676Thr)" "12" "0001007394" "00014092" "70" "2026" "0" "2026" "0" "c.2026G>A" "r.(?)" "p.(Ala676Thr)" "12" "0001025236" "00014092" "50" "890" "0" "890" "0" "c.890C>T" "r.(?)" "p.(Thr297Ile)" "" "0001035809" "00014092" "90" "1843" "0" "1843" "0" "c.1843C>A" "r.(?)" "p.(Pro615Thr)" "" "0001035810" "00014092" "50" "1811" "0" "1811" "0" "c.1811T>C" "r.(?)" "p.(Val604Ala)" "" "0001035811" "00014092" "50" "1568" "0" "1568" "0" "c.1568C>G" "r.(?)" "p.(Ser523Cys)" "" "0001035812" "00014092" "50" "1091" "0" "1091" "0" "c.1091A>C" "r.(?)" "p.(Tyr364Ser)" "" "0001035813" "00014092" "30" "753" "209" "753" "209" "c.753+209A>G" "r.(=)" "p.(=)" "" "0001035814" "00014092" "90" "655" "0" "655" "0" "c.655A>T" "r.(?)" "p.(Asn219Tyr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 384 "{{screeningid}}" "{{variantid}}" "0000039646" "0000067269" "0000181991" "0000405788" "0000181991" "0000405789" "0000181993" "0000405790" "0000230723" "0000472315" "0000230723" "0000472320" "0000230723" "0000472322" "0000230723" "0000472324" "0000230723" "0000472325" "0000230723" "0000472327" "0000230723" "0000472329" "0000230723" "0000472332" "0000230723" "0000472335" "0000230723" "0000472336" "0000230724" "0000472316" "0000230724" "0000472317" "0000230725" "0000472318" "0000230725" "0000472321" "0000230725" "0000472331" "0000230725" "0000472333" "0000230725" "0000472334" "0000230726" "0000472319" "0000230726" "0000472323" "0000230726" "0000472326" "0000230726" "0000472328" "0000230726" "0000472330" "0000295297" "0000651986" "0000295298" "0000651987" "0000295299" "0000651988" "0000295300" "0000651989" "0000295301" "0000651990" "0000295302" "0000651991" "0000307060" "0000673599" "0000307060" "0000673600" "0000439773" "0000935902" "0000439773" "0000936029" "0000446170" "0000954427" "0000446171" "0000954428" "0000446171" "0000954682" "0000446172" "0000954429" "0000446172" "0000954683" "0000446173" "0000954430" "0000446173" "0000954684" "0000446174" "0000954431" "0000446174" "0000954685" "0000446175" "0000954432" "0000446175" "0000954686" "0000446176" "0000954433" "0000446176" "0000954687" "0000446177" "0000954434" "0000446177" "0000954688" "0000446178" "0000954435" "0000446178" "0000954689" "0000446179" "0000954436" "0000446179" "0000954690" "0000446180" "0000954437" "0000446180" "0000954691" "0000446181" "0000954438" "0000446181" "0000954692" "0000446182" "0000954439" "0000446183" "0000954440" "0000446183" "0000954693" "0000446184" "0000954441" "0000446184" "0000954694" "0000446185" "0000954442" "0000446185" "0000954695" "0000446186" "0000954443" "0000446186" "0000954696" "0000446187" "0000954444" "0000446187" "0000954697" "0000446188" "0000954445" "0000446188" "0000954698" "0000446189" "0000954446" "0000446189" "0000954699" "0000446190" "0000954447" "0000446190" "0000954700" "0000446191" "0000954448" "0000446191" "0000954701" "0000446192" "0000954449" "0000446192" "0000954702" "0000446193" "0000954450" "0000446193" "0000954703" "0000446194" "0000954451" "0000446194" "0000954704" "0000446195" "0000954452" "0000446195" "0000954705" "0000446196" "0000954453" "0000446197" "0000954454" "0000446197" "0000954706" "0000446198" "0000954455" "0000446198" "0000954707" "0000446199" "0000954456" "0000446199" "0000954708" "0000446200" "0000954457" "0000446201" "0000954458" "0000446201" "0000954709" "0000446202" "0000954459" "0000446202" "0000954710" "0000446203" "0000954460" "0000446203" "0000954711" "0000446204" "0000954461" "0000446204" "0000954712" "0000446205" "0000954462" "0000446205" "0000954713" "0000446206" "0000954463" "0000446206" "0000954714" "0000446207" "0000954464" "0000446207" "0000954715" "0000446208" "0000954465" "0000446208" "0000954716" "0000446209" "0000954466" "0000446209" "0000954717" "0000446210" "0000954467" "0000446210" "0000954718" "0000446211" "0000954468" "0000446211" "0000954719" "0000446212" "0000954469" "0000446212" "0000954720" "0000446213" "0000954470" "0000446214" "0000954471" "0000446214" "0000954721" "0000446215" "0000954472" "0000446215" "0000954722" "0000446216" "0000954473" "0000446216" "0000954723" "0000446217" "0000954474" "0000446217" "0000954724" "0000446218" "0000954475" "0000446218" "0000954725" "0000446219" "0000954476" "0000446219" "0000954726" "0000446220" "0000954477" "0000446220" "0000954727" "0000446221" "0000954478" "0000446221" "0000954728" "0000446222" "0000954479" "0000446223" "0000954480" "0000446223" "0000954729" "0000446224" "0000954481" "0000446224" "0000954730" "0000446225" "0000954482" "0000446225" "0000954731" "0000446226" "0000954483" "0000446226" "0000954732" "0000446227" "0000954484" "0000446227" "0000954733" "0000446228" "0000954485" "0000446228" "0000954734" "0000446229" "0000954486" "0000446229" "0000954735" "0000446230" "0000954487" "0000446230" "0000954736" "0000446231" "0000954488" "0000446232" "0000954489" "0000446232" "0000954737" "0000446233" "0000954490" "0000446233" "0000954738" "0000446234" "0000954491" "0000446235" "0000954492" "0000446235" "0000954739" "0000446236" "0000954493" "0000446236" "0000954740" "0000446237" "0000954494" "0000446237" "0000954741" "0000446238" "0000954495" "0000446238" "0000954742" "0000446239" "0000954496" "0000446239" "0000954743" "0000446240" "0000954497" "0000446240" "0000954744" "0000446241" "0000954498" "0000446241" "0000954745" "0000446242" "0000954499" "0000446242" "0000954746" "0000446243" "0000954500" "0000446243" "0000954747" "0000446244" "0000954501" "0000446244" "0000954748" "0000446245" "0000954502" "0000446246" "0000954503" "0000446246" "0000954749" "0000446247" "0000954504" "0000446248" "0000954505" "0000446248" "0000954750" "0000446249" "0000954506" "0000446249" "0000954751" "0000446250" "0000954507" "0000446250" "0000954752" "0000446251" "0000954508" "0000446251" "0000954753" "0000446252" "0000954509" "0000446252" "0000954754" "0000446253" "0000954510" "0000446253" "0000954755" "0000446254" "0000954511" "0000446254" "0000954756" "0000446255" "0000954512" "0000446255" "0000954757" "0000446256" "0000954513" "0000446256" "0000954758" "0000446257" "0000954514" "0000446257" "0000954759" "0000446258" "0000954515" "0000446258" "0000954760" "0000446259" "0000954516" "0000446259" "0000954761" "0000446260" "0000954517" "0000446261" "0000954518" "0000446262" "0000954519" "0000446263" "0000954520" "0000446264" "0000954521" "0000446265" "0000954522" "0000446266" "0000954523" "0000446267" "0000954524" "0000446268" "0000954525" "0000446269" "0000954526" "0000446270" "0000954527" "0000446271" "0000954528" "0000446272" "0000954529" "0000446273" "0000954530" "0000446274" "0000954531" "0000446275" "0000954532" "0000446276" "0000954533" "0000446277" "0000954534" "0000446278" "0000954535" "0000446279" "0000954536" "0000446280" "0000954537" "0000446281" "0000954538" "0000446282" "0000954539" "0000446283" "0000954540" "0000446284" "0000954541" "0000446285" "0000954542" "0000446286" "0000954543" "0000446287" "0000954544" "0000446288" "0000954545" "0000446289" "0000954546" "0000446290" "0000954547" "0000446291" "0000954548" "0000446292" "0000954549" "0000446293" "0000954550" "0000446294" "0000954551" "0000446295" "0000954552" "0000446296" "0000954553" "0000446297" "0000954554" "0000446298" "0000954555" "0000446299" "0000954556" "0000446300" "0000954557" "0000446301" "0000954558" "0000446302" "0000954559" "0000446303" "0000954560" "0000446304" "0000954561" "0000446305" "0000954562" "0000446306" "0000954563" "0000446307" "0000954564" "0000446308" "0000954565" "0000446309" "0000954566" "0000446310" "0000954567" "0000446311" "0000954568" "0000446312" "0000954569" "0000446313" "0000954570" "0000446314" "0000954571" "0000446315" "0000954572" "0000446316" "0000954573" "0000446317" "0000954574" "0000446318" "0000954575" "0000446319" "0000954576" "0000446320" "0000954577" "0000446321" "0000954578" "0000446322" "0000954579" "0000446323" "0000954580" "0000446324" "0000954581" "0000446325" "0000954582" "0000446326" "0000954583" "0000446327" "0000954584" "0000446328" "0000954585" "0000446329" "0000954586" "0000446330" "0000954587" "0000446331" "0000954588" "0000446332" "0000954589" "0000446333" "0000954590" "0000446334" "0000954591" "0000446335" "0000954592" "0000446336" "0000954593" "0000446337" "0000954594" "0000446338" "0000954595" "0000446339" "0000954596" "0000446340" "0000954597" "0000446341" "0000954598" "0000446342" "0000954599" "0000446343" "0000954600" "0000446344" "0000954601" "0000446345" "0000954602" "0000446346" "0000954603" "0000446347" "0000954604" "0000446348" "0000954605" "0000446349" "0000954606" "0000446350" "0000954607" "0000446351" "0000954608" "0000446352" "0000954609" "0000446353" "0000954610" "0000446354" "0000954611" "0000446355" "0000954612" "0000446356" "0000954613" "0000446357" "0000954614" "0000446358" "0000954615" "0000446359" "0000954616" "0000446360" "0000954617" "0000446361" "0000954618" "0000446362" "0000954619" "0000446363" "0000954620" "0000446364" "0000954621" "0000446365" "0000954622" "0000446366" "0000954623" "0000446367" "0000954624" "0000446368" "0000954625" "0000446369" "0000954626" "0000446370" "0000954627" "0000446371" "0000954628" "0000446372" "0000954629" "0000446373" "0000954630" "0000446374" "0000954631" "0000446375" "0000954632" "0000446376" "0000954633" "0000446377" "0000954634" "0000446378" "0000954635" "0000446379" "0000954636" "0000446380" "0000954637" "0000446381" "0000954638" "0000446382" "0000954639" "0000446383" "0000954640" "0000446384" "0000954641" "0000446385" "0000954642" "0000446386" "0000954643" "0000446387" "0000954644" "0000446388" "0000954645" "0000446389" "0000954646" "0000446390" "0000954647" "0000446391" "0000954648" "0000446392" "0000954649" "0000446393" "0000954650" "0000446394" "0000954651" "0000446395" "0000954652" "0000446396" "0000954653" "0000446397" "0000954654" "0000446398" "0000954655" "0000446399" "0000954656" "0000446400" "0000954657" "0000446401" "0000954658" "0000446402" "0000954659" "0000446403" "0000954660" "0000446404" "0000954661" "0000446405" "0000954662" "0000446406" "0000954663" "0000446407" "0000954664" "0000446408" "0000954665" "0000446409" "0000954666" "0000446410" "0000954667" "0000446411" "0000954668" "0000446412" "0000954669" "0000446413" "0000954670" "0000446414" "0000954671" "0000446415" "0000954672" "0000446416" "0000954673" "0000446417" "0000954674" "0000446418" "0000954675" "0000446419" "0000954676" "0000446420" "0000954677" "0000446421" "0000954678" "0000446422" "0000954679" "0000446423" "0000954680" "0000446424" "0000954681" "0000453799" "0000988561" "0000453800" "0000988562" "0000453801" "0000988563" "0000453802" "0000988564" "0000453803" "0000988565" "0000453804" "0000988566" "0000453805" "0000988567" "0000453806" "0000988568" "0000453807" "0000988569" "0000453808" "0000988570" "0000455249" "0001007282" "0000455249" "0001007394" "0000455250" "0001007283"