### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PMM2) # 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}}" "PMM2" "phosphomannomutase 2" "16" "p13" "unknown" "NG_009209.1" "UD_132085340555" "" "http://www.LOVD.nl/PMM2" "Congenital Disorders of Glycosylation pages " "1" "9115" "5373" "601785" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/PMM2_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2010-04-29 00:00:00" "00006" "2015-03-20 11:36:30" "00006" "2025-12-05 13:23:08" ## 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}}" "00000029" "PMM2" "phosphomannomutase 2" "001" "NM_000303.2" "" "NP_000294.1" "" "" "" "-70" "2253" "741" "8891670" "8943194" "00002" "2012-05-11 13:11:53" "" "" ## 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" "01689" "CDG1A" "glycosylation, congenital disorder of, type Ia (CDG-1A)" "AR" "212065" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05356" "ataxia" "ataxia" "" "" "" "" "" "00006" "2017-12-21 19:14:03" "" "" "07210" "scoliosis" "scoliosis" "" "" "" "" "" "00006" "2025-12-05 11:13:58" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PMM2" "00139" "PMM2" "01689" ## Individuals ## Do not remove or alter this header ## ## Count = 138 "{{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}}" "00000029" "" "" "" "1" "" "00004" "{PMID:Almomani 2011:21102627}" "" "" "" "" "" "0" "" "" "" "" "00000058" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000064" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000066" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000069" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000072" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000076" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000078" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00034384" "" "" "" "1" "" "01259" "" "" "F" "no" "Netherlands" "" "0" "" "none" "white" "" "00034472" "" "" "" "1" "" "01259" "" "" "F" "" "Netherlands" "" "0" "" "" "white" "" "00228782" "" "" "" "1" "" "02993" "" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00228783" "" "" "" "1" "" "02993" "" "" "?" "" "Australia" "" "0" "" "" "" "" "00228784" "" "" "" "1" "" "02993" "" "" "?" "" "Spain" "" "0" "" "" "" "" "00228785" "" "" "" "1" "" "02993" "" "" "?" "" "Poland" "" "0" "" "" "" "" "00228786" "" "" "" "1" "" "02993" "" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00228787" "" "" "" "1" "" "02993" "" "" "?" "" "United States" "" "0" "" "" "" "" "00228788" "" "" "" "1" "" "02993" "" "" "?" "" "Israel" "" "0" "" "" "" "" "00228789" "" "" "" "1" "" "02993" "" "" "?" "" "Italy" "" "0" "" "" "" "" "00228790" "" "" "" "1" "" "02993" "" "" "?" "" "Netherlands" "" "0" "" "" "" "" "00228791" "" "" "" "1" "" "02993" "" "" "?" "" "Turkey" "" "0" "" "" "" "" "00228792" "" "" "" "1" "" "02993" "" "" "?" "" "Italy" "" "0" "" "" "" "" "00228793" "" "" "" "1" "" "02993" "" "" "?" "" "Italy" "" "0" "" "" "" "" "00228794" "" "" "" "1" "" "02993" "" "" "?" "" "Australia" "" "0" "" "" "" "" "00228795" "" "" "" "1" "" "02993" "" "" "?" "" "Australia" "" "0" "" "" "" "" "00228796" "" "" "" "1" "" "02993" "" "" "?" "" "Canada" "" "0" "" "" "" "" "00228797" "" "" "" "1" "" "02993" "" "" "?" "" "Germany" "" "0" "" "" "" "" "00228798" "" "" "" "1" "" "02993" "" "" "?" "" "Germany" "" "0" "" "" "" "" "00228799" "" "" "" "1" "" "02993" "" "" "?" "" "United States" "" "0" "" "" "" "" "00228800" "" "" "" "1" "" "02993" "" "" "?" "" "Portugal" "" "0" "" "" "" "" "00228801" "" "" "" "1" "" "02993" "" "" "?" "" "France" "" "0" "" "" "" "" "00228802" "" "" "" "1" "" "02993" "" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00228803" "" "" "" "1" "" "02993" "" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00228804" "" "" "" "1" "" "02993" "" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00228805" "" "" "" "1" "" "02993" "" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00228806" "" "" "" "1" "" "02993" "" "" "?" "" "Spain" "" "0" "" "" "" "" "00228807" "" "" "" "1" "" "02993" "" "" "?" "" "United States" "" "0" "" "" "" "" "00228808" "" "" "" "1" "" "02993" "" "" "?" "" "Canada" "" "0" "" "" "" "" "00228809" "" "" "" "1" "" "02993" "" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00228810" "" "" "" "1" "" "02993" "" "" "?" "" "Austria" "" "0" "" "" "" "" "00228811" "" "" "" "1" "" "02993" "" "" "?" "" "Germany" "" "0" "" "" "" "" "00228812" "" "" "" "1" "" "02993" "" "" "?" "" "Portugal" "" "0" "" "" "" "" "00228813" "" "" "" "1" "" "02993" "" "" "?" "" "Czech Republic" "" "0" "" "" "" "" "00228814" "" "" "" "1" "" "02993" "" "" "?" "" "Poland" "" "0" "" "" "" "" "00228815" "" "" "" "1" "" "02993" "" "" "?" "" "Spain" "" "0" "" "" "" "" "00228816" "" "" "" "1" "" "02993" "" "" "?" "" "Germany" "" "0" "" "" "" "" "00228817" "" "" "" "1" "" "02993" "" "" "?" "" "Belgium" "" "0" "" "" "" "" "00228818" "" "" "" "1" "" "02993" "" "" "?" "" "United States" "" "0" "" "" "" "" "00228819" "" "" "" "1" "" "02993" "" "" "?" "" "Netherlands" "" "0" "" "" "" "" "00228820" "" "" "" "1" "" "02993" "" "" "?" "" "Netherlands" "" "0" "" "" "" "" "00228821" "" "" "" "1" "" "02993" "" "" "?" "" "Austria" "" "0" "" "" "" "" "00228822" "" "" "" "1" "" "02993" "" "" "?" "" "Netherlands" "" "0" "" "" "" "" "00228823" "" "" "" "1" "" "02993" "" "" "?" "" "France" "" "0" "" "" "" "" "00228824" "" "" "" "1" "" "02993" "" "" "?" "" "Switzerland" "" "0" "" "" "" "" "00228825" "" "" "" "1" "" "02993" "" "" "?" "" "Netherlands" "" "0" "" "" "" "" "00228826" "" "" "" "1" "" "02993" "" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00228827" "" "" "" "1" "" "02993" "" "" "?" "" "United States" "" "0" "" "" "" "" "00228828" "" "" "" "1" "" "02993" "" "" "?" "" "Germany" "" "0" "" "" "" "" "00228829" "" "" "" "1" "" "02993" "" "" "?" "" "United States" "" "0" "" "" "" "" "00228830" "" "" "" "1" "" "02993" "" "" "?" "" "Germany" "" "0" "" "" "" "" "00228831" "" "" "" "1" "" "02993" "" "" "?" "" "Germany" "" "0" "" "" "" "" "00228832" "" "" "" "1" "" "02993" "" "" "?" "" "Netherlands" "" "0" "" "" "" "" "00228833" "" "" "" "1" "" "02993" "" "" "?" "" "Netherlands" "" "0" "" "" "" "" "00228834" "" "" "" "1" "" "02993" "" "" "?" "" "Netherlands" "" "0" "" "" "" "" "00228835" "" "" "" "1" "" "02993" "" "" "?" "" "Netherlands" "" "0" "" "" "" "" "00228836" "" "" "" "1" "" "02993" "" "" "?" "" "Netherlands" "" "0" "" "" "" "" "00228837" "" "" "" "1" "" "02993" "" "" "?" "" "Netherlands" "" "0" "" "" "" "" "00228838" "" "" "" "1" "" "02993" "" "" "?" "" "Netherlands" "" "0" "" "" "" "" "00228839" "" "" "" "1" "" "02993" "" "" "?" "" "Portugal" "" "0" "" "" "" "" "00228840" "" "" "" "1" "" "02993" "" "" "?" "" "Spain" "" "0" "" "" "" "" "00228841" "" "" "" "1" "" "02993" "" "" "?" "" "Japan" "" "0" "" "" "" "" "00228842" "" "" "" "1" "" "02993" "" "" "?" "" "Italy" "" "0" "" "" "" "" "00228843" "" "" "" "1" "" "02993" "" "" "?" "" "" "" "0" "" "" "" "" "00228844" "" "" "" "1" "" "02993" "" "" "?" "" "Italy" "" "0" "" "" "" "" "00228845" "" "" "" "1" "" "02993" "" "" "?" "" "Italy" "" "0" "" "" "" "" "00228846" "" "" "" "1" "" "02993" "" "" "?" "" "United States" "" "0" "" "" "" "" "00228847" "" "" "" "1" "" "02993" "" "" "?" "" "Italy" "" "0" "" "" "" "" "00228848" "" "" "" "1" "" "02993" "" "" "?" "" "France" "" "0" "" "" "" "" "00228849" "" "" "" "1" "" "02993" "" "" "?" "" "Belgium" "" "0" "" "" "" "" "00228850" "" "" "" "1" "" "02993" "" "" "?" "" "" "" "0" "" "" "" "" "00228851" "" "" "" "1" "" "02993" "" "" "?" "" "Turkey" "" "0" "" "" "" "" "00228852" "" "" "" "1" "" "02993" "" "" "?" "" "Spain" "" "0" "" "" "" "" "00228853" "" "" "" "1" "" "02993" "" "" "?" "" "" "" "0" "" "" "" "" "00228854" "" "" "" "1" "" "02993" "" "" "?" "" "Spain" "" "0" "" "" "" "" "00228855" "" "" "" "1" "" "02993" "" "" "?" "" "Netherlands" "" "0" "" "" "" "" "00228856" "" "" "" "1" "" "02993" "" "" "?" "" "United States" "" "0" "" "" "" "" "00228857" "" "" "" "1" "" "02993" "" "" "?" "" "Portugal" "" "0" "" "" "" "" "00228858" "" "" "" "1" "" "02993" "" "" "?" "" "Spain" "" "0" "" "" "" "" "00228859" "" "" "" "1" "" "02993" "" "" "?" "" "Spain" "" "0" "" "" "" "" "00228860" "" "" "" "1" "" "02993" "" "" "?" "" "Belgium" "" "0" "" "" "" "" "00228861" "" "" "" "1" "" "02993" "" "" "?" "" "Netherlands" "" "0" "" "" "" "" "00228862" "" "" "" "1" "" "02993" "" "" "?" "" "Netherlands" "" "0" "" "" "" "" "00228863" "" "" "" "1" "" "02993" "" "" "?" "" "Netherlands" "" "0" "" "" "" "" "00228864" "" "" "" "1" "" "02993" "" "" "?" "" "Portugal" "" "0" "" "" "" "" "00228865" "" "" "" "1" "" "02993" "" "" "?" "" "Canada" "" "0" "" "" "" "" "00228866" "" "" "" "1" "" "02993" "" "" "?" "" "Italy" "" "0" "" "" "" "" "00228867" "" "" "" "1" "" "02993" "" "" "?" "" "United States" "" "0" "" "" "" "" "00228868" "" "" "" "1" "" "02993" "" "" "?" "" "France" "" "0" "" "" "" "" "00228869" "" "" "" "1" "" "02993" "" "" "?" "" "United States" "" "0" "" "" "" "" "00228870" "" "" "" "1" "" "02993" "" "" "?" "" "Belgium" "" "0" "" "" "" "" "00228871" "" "" "" "1" "" "02993" "" "" "?" "" "Austria" "" "0" "" "" "" "" "00228872" "" "" "" "1" "" "02993" "" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00228873" "" "" "" "1" "" "02993" "" "" "?" "" "Germany" "" "0" "" "" "" "" "00228874" "" "" "" "1" "" "02993" "" "" "?" "" "Belgium" "" "0" "" "" "" "" "00228875" "" "" "" "1" "" "02993" "" "" "?" "" "Poland" "" "0" "" "" "" "" "00228876" "" "" "" "1" "" "02993" "" "" "?" "" "Belgium" "" "0" "" "" "" "" "00228877" "" "" "" "1" "" "02993" "" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00228878" "" "" "" "1" "" "02993" "" "" "?" "" "" "" "0" "" "" "" "" "00228879" "" "" "" "1" "" "02993" "" "" "?" "" "Belgium" "" "0" "" "" "" "" "00228880" "" "" "" "1" "" "02993" "" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00228881" "" "" "" "1" "" "02993" "" "" "?" "" "" "" "0" "" "" "" "" "00228882" "" "" "" "1" "" "02993" "" "" "?" "" "Israel" "" "0" "" "" "" "" "00228883" "" "" "" "1" "" "02993" "" "" "?" "" "Argentina" "" "0" "" "" "" "" "00228884" "" "" "" "1" "" "02993" "" "" "?" "" "Belgium" "" "0" "" "" "" "" "00228885" "" "" "" "1" "" "02993" "" "" "?" "" "Hungary" "" "0" "" "" "" "" "00228886" "" "" "" "1" "" "02993" "" "" "?" "" "Netherlands" "" "0" "" "" "" "" "00228887" "" "" "" "1" "" "02993" "" "" "?" "" "" "" "0" "" "" "" "" "00228888" "" "" "" "1" "" "01479" "{PMID:van de Warrenburg 2016:27165006}, {DOI:van de Warrenburg 2016: 10.1038/ejhg.2016.42}" "" "F" "no" "Netherlands" "" "0" "" "" "" "Pat8" "00228889" "" "" "" "1" "" "02993" "" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00228890" "" "" "" "1" "" "02993" "" "" "?" "" "Portugal" "" "0" "" "" "" "" "00228891" "" "" "" "1" "" "02993" "" "" "?" "" "Portugal" "" "0" "" "" "" "" "00228892" "" "" "" "1" "" "02993" "" "" "?" "" "Portugal" "" "0" "" "" "" "" "00228893" "" "" "" "1" "" "02993" "" "" "?" "" "Turkey" "" "0" "" "" "" "" "00228894" "" "" "" "1" "" "02993" "" "" "?" "" "Turkey" "" "0" "" "" "" "" "00228895" "" "" "" "1" "" "02993" "" "" "?" "" "Netherlands" "" "0" "" "" "" "" "00291584" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291585" "" "" "" "168" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291586" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291594" "" "" "" "47" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304547" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00410007" "" "" "" "1" "" "02568" "" "" "M" "" "" "" "" "" "" "" "" "00410164" "" "" "" "1" "" "02568" "" "" "F" "" "" "" "" "" "" "" "" "00410166" "" "" "" "1" "" "02568" "" "" "?" "" "" "" "" "" "" "" "" "00410167" "" "" "" "1" "" "02568" "" "" "M" "" "" "" "" "" "" "" "" "00414705" "" "" "" "1" "" "00000" "{PMID:Bell 2011:21228398}" "" "?" "" "" "" "0" "" "" "" "NA01899" "00469236" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469237" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00470681" "" "" "" "1" "" "00006" "{PMID:Horbacz 2025:41210864}" "patient, affected mother" "M" "" "Poland" "" "0" "" "" "" "Pat42" "00470693" "" "" "" "1" "" "00006" "{PMID:Horbacz 2025:41210864}" "patient, affected" "M" "" "Poland" "" "0" "" "" "" "Pat54" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 128 "{{individualid}}" "{{diseaseid}}" "00228782" "01689" "00228783" "01689" "00228784" "01689" "00228785" "01689" "00228786" "01689" "00228787" "01689" "00228788" "01689" "00228789" "01689" "00228790" "01689" "00228791" "01689" "00228792" "01689" "00228793" "01689" "00228794" "01689" "00228795" "01689" "00228796" "01689" "00228797" "01689" "00228798" "01689" "00228799" "01689" "00228800" "01689" "00228801" "01689" "00228802" "01689" "00228803" "01689" "00228804" "01689" "00228805" "01689" "00228806" "01689" "00228807" "01689" "00228808" "01689" "00228809" "01689" "00228810" "01689" "00228811" "01689" "00228812" "01689" "00228813" "01689" "00228814" "01689" "00228815" "01689" "00228816" "01689" "00228817" "01689" "00228818" "01689" "00228819" "01689" "00228820" "01689" "00228821" "01689" "00228822" "01689" "00228823" "01689" "00228824" "01689" "00228825" "01689" "00228826" "01689" "00228827" "01689" "00228828" "01689" "00228829" "01689" "00228830" "01689" "00228831" "01689" "00228832" "01689" "00228833" "01689" "00228834" "01689" "00228835" "01689" "00228836" "01689" "00228837" "01689" "00228838" "01689" "00228839" "01689" "00228840" "01689" "00228841" "01689" "00228842" "01689" "00228843" "01689" "00228844" "01689" "00228845" "01689" "00228846" "01689" "00228847" "01689" "00228848" "01689" "00228849" "01689" "00228850" "01689" "00228851" "01689" "00228852" "01689" "00228853" "01689" "00228854" "01689" "00228855" "01689" "00228856" "01689" "00228857" "01689" "00228858" "01689" "00228859" "01689" "00228860" "01689" "00228861" "01689" "00228862" "01689" "00228863" "01689" "00228864" "01689" "00228865" "01689" "00228866" "01689" "00228867" "01689" "00228868" "01689" "00228869" "01689" "00228870" "01689" "00228871" "01689" "00228872" "01689" "00228873" "01689" "00228874" "01689" "00228875" "01689" "00228876" "01689" "00228877" "01689" "00228878" "01689" "00228879" "01689" "00228880" "01689" "00228881" "01689" "00228882" "01689" "00228883" "01689" "00228884" "01689" "00228885" "01689" "00228886" "01689" "00228887" "01689" "00228888" "05356" "00228889" "01689" "00228890" "01689" "00228891" "01689" "00228892" "01689" "00228893" "01689" "00228894" "01689" "00228895" "01689" "00291584" "00198" "00291585" "00198" "00291586" "00198" "00291594" "00198" "00304547" "00198" "00410007" "01689" "00410164" "01689" "00410166" "01689" "00410167" "01689" "00414705" "04214" "00469236" "00198" "00469237" "00198" "00470681" "07210" "00470693" "07210" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 01689, 04214, 05356, 07210 ## Count = 6 "{{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}}" "0000172721" "05356" "00228888" "01479" "Familial, autosomal recessive" "" "neuropathy" "10y" "" "" "" "" "" "" "" "CDG1A" "cerebellar ataxia" "" "0000306500" "04214" "00414705" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "Lesch-Nyhan syndrome" "" "" "0000354389" "00198" "00469236" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" "0000354390" "00198" "00469237" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" "0000355575" "07210" "00470681" "00006" "Familial" "13y" "see paper; ... scoliosis, pectus excavatum; back pain; cryptorchidism; physical activity" "" "" "" "" "" "" "" "" "" "severe adolescent idiopathic scoliosis" "" "0000355587" "07210" "00470693" "00006" "Isolated (sporadic)" "16y" "see paper; ... scoliosis, Osgood-Schlatter disease ; no symptoms; tonsil removal; no physical activity" "" "" "" "" "" "" "" "" "" "severe adolescent idiopathic scoliosis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 138 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000029" "00000029" "1" "00004" "" "2012-05-11 13:18:42" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000058" "00000058" "1" "00004" "" "2012-05-11 13:18:53" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000064" "00000064" "1" "00004" "" "2012-05-11 13:18:55" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000066" "00000066" "1" "00004" "" "2012-05-11 13:18:57" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000069" "00000069" "1" "00004" "" "2012-05-11 13:18:57" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000072" "00000072" "1" "00004" "" "2012-05-11 13:18:59" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000076" "00000076" "1" "00004" "" "2012-05-11 13:19:02" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000078" "00000078" "1" "00004" "" "2012-05-11 13:19:04" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000034538" "00034384" "1" "01259" "01259" "2015-03-19 15:05:18" "" "" "?" "DNA" "Blood" "" "0000034541" "00034472" "1" "01259" "01259" "2015-03-19 15:23:14" "" "" "?" "DNA" "Blood" "" "0000229872" "00228782" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229873" "00228783" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229874" "00228784" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229875" "00228785" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229876" "00228786" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229877" "00228787" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229878" "00228788" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229879" "00228789" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229880" "00228790" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229881" "00228791" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229882" "00228792" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229883" "00228793" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229884" "00228794" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229885" "00228795" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229886" "00228796" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229887" "00228797" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229888" "00228798" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229889" "00228799" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229890" "00228800" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229891" "00228801" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229892" "00228802" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229893" "00228803" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229894" "00228804" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229895" "00228805" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229896" "00228806" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229897" "00228807" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229898" "00228808" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229899" "00228809" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229900" "00228810" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229901" "00228811" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229902" "00228812" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229903" "00228813" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229904" "00228814" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229905" "00228815" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229906" "00228816" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229907" "00228817" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229908" "00228818" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229909" "00228819" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229910" "00228820" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229911" "00228821" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229912" "00228822" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229913" "00228823" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229914" "00228824" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229915" "00228825" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229916" "00228826" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229917" "00228827" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "?" "DNA" "" "" "0000229918" "00228828" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229919" "00228829" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229920" "00228830" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229921" "00228831" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229922" "00228832" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229923" "00228833" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229924" "00228834" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229925" "00228835" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229926" "00228836" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229927" "00228837" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229928" "00228838" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229929" "00228839" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229930" "00228840" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229931" "00228841" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229932" "00228842" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229933" "00228843" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229934" "00228844" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229935" "00228845" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229936" "00228846" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229937" "00228847" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229938" "00228848" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229939" "00228849" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229940" "00228850" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229941" "00228851" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229942" "00228852" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229943" "00228853" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229944" "00228854" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229945" "00228855" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229946" "00228856" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229947" "00228857" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229948" "00228858" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229949" "00228859" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229950" "00228860" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229951" "00228861" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229952" "00228862" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229953" "00228863" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229954" "00228864" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229955" "00228865" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229956" "00228866" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229957" "00228867" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229958" "00228868" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229959" "00228869" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229960" "00228870" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229961" "00228871" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229962" "00228872" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229963" "00228873" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229964" "00228874" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229965" "00228875" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229966" "00228876" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229967" "00228877" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229968" "00228878" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229969" "00228879" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229970" "00228880" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229971" "00228881" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229972" "00228882" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229973" "00228883" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229974" "00228884" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229975" "00228885" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229976" "00228886" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229977" "00228887" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229978" "00228888" "1" "01479" "01479" "2015-11-25 10:35:46" "" "" "SEQ" "DNA" "" "" "0000229979" "00228889" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229980" "00228890" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229981" "00228891" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229982" "00228892" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229983" "00228893" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229984" "00228894" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000229985" "00228895" "1" "02993" "02993" "2012-09-14 11:47:27" "" "" "SEQ" "DNA" "" "" "0000292752" "00291584" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292753" "00291585" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292754" "00291586" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292762" "00291594" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305676" "00304547" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000411426" "00410007" "1" "02568" "02568" "2022-05-19 12:35:48" "" "" "SEQ" "DNA" "" "" "0000411427" "00410164" "1" "02568" "02568" "2022-05-19 13:09:52" "" "" "SEQ" "DNA" "" "" "0000411429" "00410166" "1" "02568" "02568" "2022-05-19 13:16:48" "" "" "SEQ-NG" "DNA" "" "" "0000411430" "00410167" "1" "02568" "02568" "2022-05-19 13:23:19" "" "" "SEQ" "DNA" "" "" "0000415986" "00414705" "1" "00000" "03840" "2022-08-02 11:28:48" "" "" "SEQ-NG" "DNA;RNA" "blood" "" "0000470904" "00469236" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470905" "00469237" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000472348" "00470681" "1" "00006" "00006" "2025-12-05 11:16:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000472360" "00470693" "1" "00006" "00006" "2025-12-05 11:16:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 247 "{{screeningid}}" "{{geneid}}" "0000000029" "ALG9" "0000000029" "ASPM" "0000000029" "B3GLCT" "0000000029" "BBS1" "0000000029" "CBS" "0000000029" "CC2D1A" "0000000029" "CDK5RAP2" "0000000029" "DLG3" "0000000029" "DNMT3B" "0000000029" "DPM1" "0000000029" "DPP3" "0000000029" "GLI3" "0000000029" "JAG1" "0000000029" "KRAS" "0000000029" "MECP2" "0000000029" "MPDU1" "0000000029" "NLGN4X" "0000000029" "NSD1" "0000000029" "PHF8" "0000000029" "PMM2" "0000000029" "RAI1" "0000000029" "REST" "0000000029" "SATB2" "0000000029" "SCN8A" "0000000029" "SHANK3" "0000000029" "SLC35C1" "0000000029" "TCF4" "0000000029" "TSC1" "0000000029" "UPF3B" "0000000029" "ZEB2" "0000000029" "ZNF41" "0000000058" "ALDH5A1" "0000000058" "ATP7B" "0000000058" "CFTR" "0000000058" "CYP21A2" "0000000058" "GBA" "0000000058" "HEXB" "0000000058" "IGHMBP2" "0000000058" "MEFV" "0000000058" "MYO5A" "0000000058" "NHLRC1" "0000000058" "NPHS1" "0000000058" "PKHD1" "0000000058" "PMM2" "0000000058" "SERPINA1" "0000000058" "SLC26A2" "0000000058" "SMPD1" "0000000064" "ATP7B" "0000000064" "CYP21A2" "0000000064" "ETFB" "0000000064" "FKTN" "0000000064" "GLB1" "0000000064" "HEXB" "0000000064" "IGHMBP2" "0000000064" "LYST" "0000000064" "NHLRC1" "0000000064" "PMM2" "0000000064" "SBDS" "0000000064" "SMPD1" "0000000066" "AHI1" "0000000066" "ATP7B" "0000000066" "HBB" "0000000066" "HEXB" "0000000066" "IDUA" "0000000066" "MPL" "0000000066" "NHLRC1" "0000000066" "NPHS1" "0000000066" "PKHD1" "0000000066" "PMM2" "0000000066" "SERPINA1" "0000000066" "TTN" "0000000069" "AHI1" "0000000069" "ARSB" "0000000069" "ATP7B" "0000000069" "CYP27A1" "0000000069" "ETFB" "0000000069" "GLB1" "0000000069" "HEXA" "0000000069" "HEXB" "0000000069" "LAMA2" "0000000069" "MTHFR" "0000000069" "MYO5A" "0000000069" "NHLRC1" "0000000069" "NPHS1" "0000000069" "PMM2" "0000000069" "SBDS" "0000000072" "ARSB" "0000000072" "ATP7B" "0000000072" "CYP21A2" "0000000072" "ETFB" "0000000072" "GLB1" "0000000072" "IGHMBP2" "0000000072" "MTHFR" "0000000072" "NHLRC1" "0000000072" "NPHS1" "0000000072" "PMM2" "0000000072" "PPT1" "0000000072" "SERPINA1" "0000000072" "SMPD1" "0000000076" "ATP7B" "0000000076" "BCKDHA" "0000000076" "FKRP" "0000000076" "GAA" "0000000076" "GLB1" "0000000076" "HSD17B4" "0000000076" "IGHMBP2" "0000000076" "MEFV" "0000000076" "NHLRC1" "0000000076" "NPHS1" "0000000076" "PMM2" "0000000076" "POMGNT1" "0000000076" "PPT1" "0000000076" "SERPINA1" "0000000076" "SLC26A2" "0000000078" "ATP7B" "0000000078" "CDH23" "0000000078" "CFTR" "0000000078" "ETFB" "0000000078" "GLB1" "0000000078" "IGHMBP2" "0000000078" "NPHS1" "0000000078" "PMM2" "0000000078" "POLG" "0000000078" "RAG1" "0000000078" "SERPINA1" "0000000078" "SLC26A2" "0000034538" "PMM2" "0000034541" "PMM2" "0000229872" "PMM2" "0000229873" "PMM2" "0000229874" "PMM2" "0000229875" "PMM2" "0000229876" "PMM2" "0000229877" "PMM2" "0000229878" "PMM2" "0000229879" "PMM2" "0000229880" "PMM2" "0000229881" "PMM2" "0000229882" "PMM2" "0000229883" "PMM2" "0000229884" "PMM2" "0000229885" "PMM2" "0000229886" "PMM2" "0000229887" "PMM2" "0000229888" "PMM2" "0000229889" "PMM2" "0000229890" "PMM2" "0000229891" "PMM2" "0000229892" "PMM2" "0000229893" "PMM2" "0000229894" "PMM2" "0000229895" "PMM2" "0000229896" "PMM2" "0000229897" "PMM2" "0000229898" "PMM2" "0000229899" "PMM2" "0000229900" "PMM2" "0000229901" "PMM2" "0000229902" "PMM2" "0000229903" "PMM2" "0000229904" "PMM2" "0000229905" "PMM2" "0000229906" "PMM2" "0000229907" "PMM2" "0000229908" "PMM2" "0000229909" "PMM2" "0000229910" "PMM2" "0000229911" "PMM2" "0000229912" "PMM2" "0000229913" "PMM2" "0000229914" "PMM2" "0000229915" "PMM2" "0000229916" "PMM2" "0000229917" "PMM2" "0000229918" "PMM2" "0000229919" "PMM2" "0000229920" "PMM2" "0000229921" "PMM2" "0000229922" "PMM2" "0000229923" "PMM2" "0000229924" "PMM2" "0000229925" "PMM2" "0000229926" "PMM2" "0000229927" "PMM2" "0000229928" "PMM2" "0000229929" "PMM2" "0000229930" "PMM2" "0000229931" "PMM2" "0000229932" "PMM2" "0000229933" "PMM2" "0000229934" "PMM2" "0000229935" "PMM2" "0000229936" "PMM2" "0000229937" "PMM2" "0000229938" "PMM2" "0000229939" "PMM2" "0000229940" "PMM2" "0000229941" "PMM2" "0000229942" "PMM2" "0000229943" "PMM2" "0000229944" "PMM2" "0000229945" "PMM2" "0000229946" "PMM2" "0000229947" "PMM2" "0000229948" "PMM2" "0000229949" "PMM2" "0000229950" "PMM2" "0000229951" "PMM2" "0000229952" "PMM2" "0000229953" "PMM2" "0000229954" "PMM2" "0000229955" "PMM2" "0000229956" "PMM2" "0000229957" "PMM2" "0000229958" "PMM2" "0000229959" "PMM2" "0000229960" "PMM2" "0000229961" "PMM2" "0000229962" "PMM2" "0000229963" "PMM2" "0000229964" "PMM2" "0000229965" "PMM2" "0000229966" "PMM2" "0000229967" "PMM2" "0000229968" "PMM2" "0000229969" "PMM2" "0000229970" "PMM2" "0000229971" "PMM2" "0000229972" "PMM2" "0000229973" "PMM2" "0000229974" "PMM2" "0000229975" "PMM2" "0000229976" "PMM2" "0000229977" "PMM2" "0000229978" "PMM2" "0000229979" "PMM2" "0000229980" "PMM2" "0000229981" "PMM2" "0000229982" "PMM2" "0000229983" "PMM2" "0000229984" "PMM2" "0000229985" "PMM2" "0000411426" "PMM2" "0000411427" "PMM2" "0000411429" "PMM2" "0000411430" "PMM2" "0000415986" "HPRT1" ## 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 = 378 "{{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}}" "0000000632" "0" "50" "16" "8906914" "8906914" "subst" "0.0201507" "00002" "PMM2_000049" "g.8906914A>C" "" "{PMID:Bell 2011:21228398}" "" "" "" "Germline" "" "" "0" "" "" "g.8813057A>C" "" "VUS" "" "0000000633" "0" "50" "16" "8906914" "8906914" "subst" "0.0201507" "00002" "PMM2_000049" "g.8906914A>C" "" "{PMID:Bell 2011:21228398}" "" "" "" "Germline" "" "" "0" "" "" "g.8813057A>C" "" "VUS" "" "0000000634" "0" "50" "16" "8906914" "8906914" "subst" "0.0201507" "00002" "PMM2_000049" "g.8906914A>C" "" "{PMID:Bell 2011:21228398}" "" "" "" "Germline" "" "" "0" "" "" "g.8813057A>C" "" "VUS" "" "0000000635" "0" "50" "16" "8906914" "8906914" "subst" "0.0201507" "00002" "PMM2_000049" "g.8906914A>C" "" "{PMID:Bell 2011:21228398}" "" "" "" "Germline" "" "" "0" "" "" "g.8813057A>C" "" "VUS" "" "0000000636" "0" "50" "16" "8906914" "8906914" "subst" "0.0201507" "00002" "PMM2_000049" "g.8906914A>C" "" "{PMID:Bell 2011:21228398}" "" "" "" "Germline" "" "" "0" "" "" "g.8813057A>C" "" "VUS" "" "0000000637" "0" "50" "16" "8906914" "8906914" "subst" "0.0201507" "00002" "PMM2_000049" "g.8906914A>C" "" "{PMID:Bell 2011:21228398}" "" "" "" "Germline" "" "" "0" "" "" "g.8813057A>C" "" "VUS" "" "0000000639" "0" "59" "16" "8905018" "8905018" "subst" "0.000154004" "00002" "PMM2_000044" "g.8905018T>C" "" "{PMID:Bell 2011:21228398}" "" "" "" "Germline" "" "" "0" "" "" "g.8811161T>C" "" "VUS" "" "0000000640" "3" "30" "16" "8941818" "8941818" "subst" "0" "00002" "PMM2_000050" "g.8941818A>C" "" "{PMID:Almomani 2011:21102627}" "" "" "" "Germline" "" "rs2075827" "0" "" "" "g.8847961A>C" "" "likely benign" "" "0000061629" "0" "59" "16" "8904945" "8904945" "subst" "0" "01259" "PMM2_000007" "g.8904945C>A" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.8811088C>A" "" "VUS" "" "0000061632" "0" "59" "16" "8905010" "8905010" "subst" "0.00408222" "01259" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.8811153G>A" "" "VUS" "" "0000061633" "0" "59" "16" "8904945" "8904945" "subst" "0" "01259" "PMM2_000007" "g.8904945C>A" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.8811088C>A" "" "VUS" "" "0000247366" "0" "10" "16" "8906914" "8906914" "subst" "0.0201507" "02330" "PMM2_000049" "g.8906914A>C" "" "" "" "PMM2(NM_000303.3):c.590A>C (p.E197A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8813057A>C" "" "benign" "" "0000248252" "0" "10" "16" "8906914" "8906914" "subst" "0.0201507" "02325" "PMM2_000049" "g.8906914A>C" "" "" "" "PMM2(NM_000303.3):c.590A>C (p.E197A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8813057A>C" "" "benign" "" "0000248288" "0" "90" "16" "8906887" "8906887" "subst" "4.06085E-6" "02325" "PMM2_000075" "g.8906887A>G" "" "" "" "PMM2(NM_000303.3):c.563A>G (p.D188G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8813030A>G" "" "pathogenic" "" "0000249665" "0" "90" "16" "8941588" "8941588" "subst" "0" "02325" "PMM2_000066" "g.8941588A>T" "" "" "" "PMM2(NM_000303.3):c.647A>T (p.N216I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8847731A>T" "" "pathogenic" "" "0000251698" "0" "30" "16" "8906914" "8906914" "subst" "0.0201507" "02326" "PMM2_000049" "g.8906914A>C" "" "" "" "PMM2(NM_000303.3):c.590A>C (p.E197A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8813057A>C" "" "likely benign" "" "0000252461" "0" "90" "16" "8906887" "8906887" "subst" "4.06085E-6" "02326" "PMM2_000075" "g.8906887A>G" "" "" "" "PMM2(NM_000303.3):c.563A>G (p.D188G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8813030A>G" "" "pathogenic" "" "0000252607" "0" "90" "16" "8898636" "8898636" "subst" "4.06161E-6" "02326" "PMM2_000054" "g.8898636A>C" "" "" "" "PMM2(NM_000303.3):c.191A>C (p.Y64S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8804779A>C" "" "pathogenic" "" "0000293972" "0" "10" "16" "8900241" "8900241" "subst" "0.0166728" "02330" "PMM2_000056" "g.8900241G>A" "" "" "" "PMM2(NM_000303.3):c.324G>A (p.A108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8806384G>A" "" "benign" "" "0000293973" "0" "90" "16" "8900255" "8900255" "subst" "2.8434E-5" "02330" "PMM2_000057" "g.8900255C>T" "" "" "" "PMM2(NM_000303.2):c.338C>T (p.P113L), PMM2(NM_000303.3):c.338C>T (p.P113L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8806398C>T" "" "pathogenic" "" "0000293974" "0" "90" "16" "8905010" "8905010" "subst" "0.00408222" "02330" "PMM2_000001" "g.8905010G>A" "" "" "" "PMM2(NM_000303.2):c.422G>A (p.R141H, p.(Arg141His)), PMM2(NM_000303.3):c.422G>A (p.R141H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000293975" "0" "30" "16" "8905029" "8905029" "subst" "0.000364908" "02330" "PMM2_000060" "g.8905029C>T" "" "" "" "PMM2(NM_000303.3):c.441C>T (p.L147=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8811172C>T" "" "likely benign" "" "0000293976" "0" "10" "16" "8905054" "8905054" "subst" "0.464774" "02330" "PMM2_000061" "g.8905054T>C" "" "" "" "PMM2(NM_000303.3):c.447+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8811197T>C" "" "benign" "" "0000293977" "0" "50" "16" "8905477" "8905477" "subst" "0" "02330" "PMM2_000062" "g.8905477T>A" "" "" "" "PMM2(NM_000303.3):c.448-18T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8811620T>A" "" "VUS" "" "0000293978" "0" "30" "16" "8941568" "8941568" "subst" "0.000150577" "02330" "PMM2_000065" "g.8941568C>T" "" "" "" "PMM2(NM_000303.3):c.640-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8847711C>T" "" "likely benign" "" "0000297138" "0" "90" "16" "8898638" "8898638" "subst" "0" "02325" "PMM2_000055" "g.8898638G>T" "" "" "" "PMM2(NM_000303.3):c.193G>T (p.D65Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8804781G>T" "" "pathogenic" "" "0000297139" "0" "10" "16" "8900241" "8900241" "subst" "0.0166728" "02325" "PMM2_000056" "g.8900241G>A" "" "" "" "PMM2(NM_000303.3):c.324G>A (p.A108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8806384G>A" "" "benign" "" "0000297140" "0" "90" "16" "8904945" "8904945" "subst" "0" "02325" "PMM2_000007" "g.8904945C>A" "" "" "" "PMM2(NM_000303.2):c.357C>A (p.F119L, p.(Phe119Leu)), PMM2(NM_000303.3):c.357C>A (p.F119L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8811088C>A" "" "pathogenic" "" "0000297141" "0" "90" "16" "8904956" "8904956" "subst" "0.000107491" "02325" "PMM2_000058" "g.8904956G>A" "" "" "" "PMM2(NM_000303.3):c.368G>A (p.(Arg123Gln), p.R123Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8811099G>A" "" "pathogenic" "" "0000297142" "0" "90" "16" "8904983" "8904983" "subst" "0" "02325" "PMM2_000059" "g.8904983T>C" "" "" "" "PMM2(NM_000303.3):c.395T>C (p.I132T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8811126T>C" "" "pathogenic" "" "0000297143" "0" "90" "16" "8905010" "8905010" "subst" "0.00408222" "02325" "PMM2_000001" "g.8905010G>A" "" "" "" "PMM2(NM_000303.2):c.422G>A (p.R141H, p.(Arg141His)), PMM2(NM_000303.3):c.422G>A (p.R141H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000297144" "0" "10" "16" "8905054" "8905054" "subst" "0.464774" "02325" "PMM2_000061" "g.8905054T>C" "" "" "" "PMM2(NM_000303.3):c.447+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8811197T>C" "" "benign" "" "0000297145" "0" "90" "16" "8906872" "8906872" "subst" "1.62434E-5" "02325" "PMM2_000063" "g.8906872T>C" "" "" "" "PMM2(NM_000303.3):c.548T>C (p.F183S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8813015T>C" "" "pathogenic" "" "0000297146" "0" "90" "16" "8941632" "8941632" "subst" "6.90821E-5" "02325" "PMM2_000068" "g.8941632G>A" "" "" "" "PMM2(NM_000303.3):c.691G>A (p.(Val231Met), p.V231M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8847775G>A" "" "pathogenic" "" "0000298939" "0" "90" "16" "8904945" "8904945" "subst" "0" "02329" "PMM2_000007" "g.8904945C>A" "" "" "" "PMM2(NM_000303.2):c.357C>A (p.F119L, p.(Phe119Leu)), PMM2(NM_000303.3):c.357C>A (p.F119L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8811088C>A" "" "pathogenic" "" "0000298940" "0" "90" "16" "8905010" "8905010" "subst" "0.00408222" "02329" "PMM2_000001" "g.8905010G>A" "" "" "" "PMM2(NM_000303.2):c.422G>A (p.R141H, p.(Arg141His)), PMM2(NM_000303.3):c.422G>A (p.R141H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000301050" "0" "10" "16" "8941778" "8941778" "subst" "0" "02326" "PMM2_000070" "g.8941778G>C" "" "" "" "PMM2(NM_000303.3):c.*96G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8847921G>C" "" "benign" "" "0000301051" "0" "90" "16" "8904945" "8904945" "subst" "0" "02326" "PMM2_000007" "g.8904945C>A" "" "" "" "PMM2(NM_000303.2):c.357C>A (p.F119L, p.(Phe119Leu)), PMM2(NM_000303.3):c.357C>A (p.F119L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8811088C>A" "" "pathogenic" "" "0000301052" "0" "90" "16" "8904956" "8904956" "subst" "0.000107491" "02326" "PMM2_000058" "g.8904956G>A" "" "" "" "PMM2(NM_000303.3):c.368G>A (p.(Arg123Gln), p.R123Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8811099G>A" "" "pathogenic" "" "0000301053" "0" "90" "16" "8905010" "8905010" "subst" "0.00408222" "02326" "PMM2_000001" "g.8905010G>A" "" "" "" "PMM2(NM_000303.2):c.422G>A (p.R141H, p.(Arg141His)), PMM2(NM_000303.3):c.422G>A (p.R141H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000301054" "0" "10" "16" "8905054" "8905054" "subst" "0.464774" "02326" "PMM2_000061" "g.8905054T>C" "" "" "" "PMM2(NM_000303.3):c.447+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8811197T>C" "" "benign" "" "0000301055" "0" "90" "16" "8906883" "8906883" "subst" "1.21826E-5" "02326" "PMM2_000064" "g.8906883T>C" "" "" "" "PMM2(NM_000303.3):c.559T>C (p.W187R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8813026T>C" "" "pathogenic" "" "0000301056" "0" "90" "16" "8891800" "8891800" "subst" "4.49834E-6" "02326" "PMM2_000051" "g.8891800C>G" "" "" "" "PMM2(NM_000303.2):c.61C>G (p.R21G), PMM2(NM_000303.3):c.61C>G (p.(Arg21Gly), p.R21G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8797943C>G" "" "pathogenic" "" "0000301057" "0" "70" "16" "8941651" "8941651" "subst" "0.000130114" "02326" "PMM2_000069" "g.8941651C>G" "" "" "" "PMM2(NM_000303.3):c.710C>G (p.T237R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8847794C>G" "" "likely pathogenic" "" "0000305973" "0" "90" "16" "8905010" "8905010" "subst" "0.00408222" "01943" "PMM2_000001" "g.8905010G>A" "" "" "" "PMM2(NM_000303.2):c.422G>A (p.R141H, p.(Arg141His)), PMM2(NM_000303.3):c.422G>A (p.R141H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000324584" "0" "50" "16" "8941604" "8941604" "subst" "0" "01804" "PMM2_000067" "g.8941604C>A" "" "" "" "PMM2(NM_000303.2):c.663C>A (p.(Phe221Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8847747C>A" "" "VUS" "" "0000338852" "0" "10" "16" "8905054" "8905054" "subst" "0.464774" "02327" "PMM2_000061" "g.8905054T>C" "" "" "" "PMM2(NM_000303.3):c.447+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8811197T>C" "" "benign" "" "0000338855" "0" "10" "16" "8941934" "8941934" "subst" "0" "02327" "PMM2_000074" "g.8941934C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8848077C>A" "" "benign" "" "0000341805" "0" "90" "16" "8904956" "8904956" "subst" "0.000107491" "02327" "PMM2_000058" "g.8904956G>A" "" "" "" "PMM2(NM_000303.3):c.368G>A (p.(Arg123Gln), p.R123Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8811099G>A" "" "pathogenic" "" "0000341912" "0" "90" "16" "8905010" "8905010" "subst" "0.00408222" "02327" "PMM2_000001" "g.8905010G>A" "" "" "" "PMM2(NM_000303.2):c.422G>A (p.R141H, p.(Arg141His)), PMM2(NM_000303.3):c.422G>A (p.R141H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000344327" "0" "90" "16" "8941663" "8941663" "subst" "5.69819E-5" "02327" "PMM2_000073" "g.8941663G>C" "" "" "" "PMM2(NM_000303.2):c.722G>C (p.C241S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8847806G>C" "" "pathogenic" "" "0000345249" "0" "50" "16" "8941598" "8941598" "subst" "0.000105657" "02327" "PMM2_000072" "g.8941598G>C" "" "" "" "PMM2(NM_000303.2):c.657G>C (p.E219D), PMM2(NM_000303.3):c.657G>C (p.E219D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8847741G>C" "" "VUS" "" "0000347963" "0" "90" "16" "8905517" "8905517" "subst" "0.000296548" "02327" "PMM2_000071" "g.8905517T>C" "" "" "" "PMM2(NM_000303.2):c.470T>C (p.F157S), PMM2(NM_000303.3):c.470T>C (p.(Phe157Ser), p.F157S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8811660T>C" "" "pathogenic" "" "0000471107" "2" "99" "16" "8891740" "8891740" "subst" "4.21905E-6" "02993" "PMM2_000029" "g.8891740A>G" "" "" "BmgBI+;FatI-" "" "" "Unknown" "" "" "0" "" "" "g.8797883A>G" "" "pathogenic" "" "0000471108" "1" "99" "16" "8891763" "8891763" "del" "1.68892E-5" "02993" "PMM2_000008" "g.8891763del" "" "" "Cac8I+" "" "" "Unknown" "" "" "0" "" "" "g.8797906del" "" "pathogenic" "" "0000471109" "1" "99" "16" "8891763" "8891763" "del" "1.68892E-5" "02993" "PMM2_000008" "g.8891763del" "" "" "Cac8I+" "" "" "Unknown" "" "" "0" "" "" "g.8797906del" "" "pathogenic" "" "0000471110" "1" "99" "16" "8891765" "8891765" "subst" "4.22772E-6" "02993" "PMM2_000022" "g.8891765G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8797908G>A" "" "pathogenic" "" "0000471111" "1" "99" "16" "8891783" "8891783" "subst" "0" "02993" "PMM2_000017" "g.8891783G>A" "" "" "BsaI+;BccI-" "" "" "Unknown" "" "" "0" "" "" "g.8797926G>A" "" "pathogenic" "" "0000471112" "1" "99" "16" "8891783" "8891783" "subst" "0" "02993" "PMM2_000017" "g.8891783G>A" "" "" "BsaI+;BccI-" "" "" "Unknown" "" "" "0" "" "" "g.8797926G>A" "" "pathogenic" "" "0000471113" "1" "99" "16" "8891792" "8891792" "subst" "1.76438E-5" "02993" "PMM2_000038" "g.8891792C>G" "" "" "DdeI+;HphI-" "" "" "Unknown" "" "" "0" "" "" "g.8797935C>G" "" "pathogenic" "" "0000471114" "2" "99" "16" "8891803" "8891803" "subst" "0" "02993" "PMM2_000030" "g.8891803C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8797946C>T" "" "pathogenic" "" "0000471115" "2" "99" "16" "8895684" "8895685" "delins" "0" "02993" "PMM2_000020" "g.8895684_8895685delinsGC" "" "" "AciI+" "" "" "Unknown" "" "" "0" "" "" "g.8801827_8801828delinsGC" "" "pathogenic" "" "0000471116" "2" "99" "16" "8895684" "8895685" "delins" "0" "02993" "PMM2_000020" "g.8895684_8895685delinsGC" "" "" "AciI+" "" "" "Unknown" "" "" "0" "" "" "g.8801827_8801828delinsGC" "" "pathogenic" "" "0000471117" "0" "99" "16" "8895684" "8895685" "delins" "0" "02993" "PMM2_000020" "g.8895684_8895685delinsGC" "" "" "MmeI+" "" "" "Unknown" "" "" "0" "" "" "g.8801827_8801828delinsGC" "" "pathogenic" "" "0000471118" "0" "99" "16" "8895684" "8895685" "delins" "0" "02993" "PMM2_000020" "g.8895684_8895685delinsGC" "" "" "MmeI+" "" "" "Unknown" "" "" "0" "" "" "g.8801827_8801828delinsGC" "" "pathogenic" "" "0000471119" "1" "99" "16" "8895684" "8895685" "delins" "0" "02993" "PMM2_000020" "g.8895684_8895685delinsGC" "" "" "AciI+" "" "" "Unknown" "" "" "0" "" "" "g.8801827_8801828delinsGC" "" "pathogenic" "" "0000471120" "1" "99" "16" "8895713" "8895713" "subst" "1.63464E-5" "02993" "PMM2_000021" "g.8895713G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8801856G>A" "" "pathogenic" "" "0000471121" "1" "99" "16" "8895713" "8895713" "subst" "1.63464E-5" "02993" "PMM2_000021" "g.8895713G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8801856G>A" "" "pathogenic" "" "0000471122" "1" "99" "16" "8895767" "8895767" "subst" "2.49931E-5" "02993" "PMM2_000041" "g.8895767G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8801910G>T" "" "pathogenic" "" "0000471123" "1" "99" "16" "8898638" "8898638" "subst" "0" "02993" "PMM2_000019" "g.8898638G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8804781G>T" "" "pathogenic" "" "0000471124" "1" "99" "16" "8898638" "8898638" "subst" "0" "02993" "PMM2_000019" "g.8898638G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8804781G>T" "" "pathogenic" "" "0000471125" "1" "99" "16" "8898650" "8898650" "subst" "0" "02993" "PMM2_000026" "g.8898650C>T" "" "" "Hpy188I+;BslI-" "" "" "Unknown" "" "" "0" "" "" "g.8804793C>T" "" "pathogenic" "" "0000471126" "1" "99" "16" "8898650" "8898650" "subst" "0" "02993" "PMM2_000026" "g.8898650C>T" "" "" "Hpy188I+;BslI-" "" "" "Unknown" "" "" "0" "" "" "g.8804793C>T" "" "pathogenic" "" "0000471127" "1" "99" "16" "8898650" "8898650" "subst" "0" "02993" "PMM2_000026" "g.8898650C>T" "" "" "Hpy188I+;BslI-" "" "" "Unknown" "" "" "0" "" "" "g.8804793C>T" "" "pathogenic" "" "0000471128" "2" "99" "16" "8898702" "8898702" "subst" "6.49994E-5" "02993" "PMM2_000043" "g.8898702T>C" "" "" "BfuAI+" "IVS3+2T>C" "" "Unknown" "" "" "0" "" "" "g.8804845T>C" "" "pathogenic" "" "0000471129" "1" "99" "16" "8900195" "8900195" "subst" "0" "02993" "PMM2_000003" "g.8900195A>C" "" "" "AciI+;MnlI-" "" "" "Unknown" "" "" "0" "" "" "g.8806338A>C" "" "pathogenic" "" "0000471130" "1" "99" "16" "8900227" "8900227" "subst" "1.21838E-5" "02993" "PMM2_000034" "g.8900227C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8806370C>G" "" "pathogenic" "" "0000471131" "1" "99" "16" "8900240" "8900240" "subst" "1.21852E-5" "02993" "PMM2_000033" "g.8900240C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8806383C>T" "" "pathogenic" "" "0000471132" "1" "99" "16" "8900240" "8900240" "subst" "1.21852E-5" "02993" "PMM2_000033" "g.8900240C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8806383C>T" "" "pathogenic" "" "0000471133" "1" "99" "16" "8900255" "8900255" "subst" "2.8434E-5" "02993" "PMM2_000013" "g.8900255C>T" "" "" "AcuI+" "" "" "Unknown" "" "" "0" "" "" "g.8806398C>T" "" "pathogenic" "" "0000471134" "1" "99" "16" "8900255" "8900255" "subst" "2.8434E-5" "02993" "PMM2_000013" "g.8900255C>T" "" "" "AcuI+" "" "" "Unknown" "" "" "0" "" "" "g.8806398C>T" "" "pathogenic" "" "0000471135" "1" "99" "16" "8900255" "8900255" "subst" "2.8434E-5" "02993" "PMM2_000013" "g.8900255C>T" "" "" "AcuI+" "" "" "Unknown" "" "" "0" "" "" "g.8806398C>T" "" "pathogenic" "" "0000471136" "1" "99" "16" "8900255" "8900255" "subst" "2.8434E-5" "02993" "PMM2_000013" "g.8900255C>T" "" "" "AcuI+" "" "" "Unknown" "" "" "0" "" "" "g.8806398C>T" "" "pathogenic" "" "0000471137" "1" "99" "16" "8900255" "8900255" "subst" "2.8434E-5" "02993" "PMM2_000013" "g.8900255C>T" "" "" "AcuI+" "" "" "Unknown" "" "" "0" "" "" "g.8806398C>T" "" "pathogenic" "" "0000471138" "1" "99" "16" "8900255" "8900255" "subst" "2.8434E-5" "02993" "PMM2_000013" "g.8900255C>T" "" "" "AcuI+" "" "" "Unknown" "" "" "0" "" "" "g.8806398C>T" "" "pathogenic" "" "0000471139" "1" "99" "16" "8900255" "8900255" "subst" "2.8434E-5" "02993" "PMM2_000013" "g.8900255C>T" "" "" "AcuI+" "" "" "Unknown" "" "" "0" "" "" "g.8806398C>T" "" "pathogenic" "" "0000471140" "1" "99" "16" "8900255" "8900255" "subst" "2.8434E-5" "02993" "PMM2_000013" "g.8900255C>T" "" "" "AcuI+" "" "" "Unknown" "" "" "0" "" "" "g.8806398C>T" "" "pathogenic" "" "0000471141" "1" "99" "16" "8900255" "8900255" "subst" "2.8434E-5" "02993" "PMM2_000013" "g.8900255C>T" "" "" "AcuI+" "" "" "Unknown" "" "" "0" "" "" "g.8806398C>T" "" "pathogenic" "" "0000471142" "1" "99" "16" "8904945" "8904945" "subst" "0" "02993" "PMM2_000007" "g.8904945C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811088C>A" "" "pathogenic" "" "0000471143" "1" "99" "16" "8904945" "8904945" "subst" "0" "02993" "PMM2_000007" "g.8904945C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811088C>A" "" "pathogenic" "" "0000471144" "1" "99" "16" "8904945" "8904945" "subst" "0" "02993" "PMM2_000007" "g.8904945C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811088C>A" "" "pathogenic" "" "0000471145" "1" "99" "16" "8904945" "8904945" "subst" "0" "02993" "PMM2_000007" "g.8904945C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811088C>A" "" "pathogenic" "" "0000471146" "1" "99" "16" "8904945" "8904945" "subst" "0" "02993" "PMM2_000007" "g.8904945C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811088C>A" "" "pathogenic" "" "0000471147" "1" "99" "16" "8904945" "8904945" "subst" "0" "02993" "PMM2_000007" "g.8904945C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811088C>A" "" "pathogenic" "" "0000471148" "1" "99" "16" "8904945" "8904945" "subst" "0" "02993" "PMM2_000007" "g.8904945C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811088C>A" "" "pathogenic" "" "0000471149" "1" "99" "16" "8904945" "8904945" "subst" "0" "02993" "PMM2_000007" "g.8904945C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811088C>A" "" "pathogenic" "" "0000471150" "1" "99" "16" "8904945" "8904945" "subst" "0" "02993" "PMM2_000007" "g.8904945C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811088C>A" "" "pathogenic" "" "0000471151" "1" "99" "16" "8904945" "8904945" "subst" "0" "02993" "PMM2_000007" "g.8904945C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811088C>A" "" "pathogenic" "" "0000471152" "1" "99" "16" "8904945" "8904945" "subst" "0" "02993" "PMM2_000007" "g.8904945C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811088C>A" "" "pathogenic" "" "0000471153" "1" "99" "16" "8904945" "8904945" "subst" "0" "02993" "PMM2_000007" "g.8904945C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811088C>A" "" "pathogenic" "" "0000471154" "1" "99" "16" "8904945" "8904945" "subst" "0" "02993" "PMM2_000007" "g.8904945C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811088C>A" "" "pathogenic" "" "0000471155" "1" "99" "16" "8904945" "8904945" "subst" "0" "02993" "PMM2_000007" "g.8904945C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811088C>A" "" "pathogenic" "" "0000471156" "2" "99" "16" "8904945" "8904945" "subst" "0" "02993" "PMM2_000007" "g.8904945C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811088C>A" "" "pathogenic" "" "0000471157" "1" "99" "16" "8904945" "8904945" "subst" "0" "02993" "PMM2_000007" "g.8904945C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811088C>A" "" "pathogenic" "" "0000471158" "1" "99" "16" "8904945" "8904945" "subst" "0" "02993" "PMM2_000007" "g.8904945C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811088C>A" "" "pathogenic" "" "0000471159" "1" "99" "16" "8904945" "8904945" "subst" "0" "02993" "PMM2_000007" "g.8904945C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811088C>A" "" "pathogenic" "" "0000471160" "1" "99" "16" "8904945" "8904945" "subst" "0" "02993" "PMM2_000007" "g.8904945C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811088C>A" "" "pathogenic" "" "0000471161" "1" "99" "16" "8904945" "8904945" "subst" "0" "02993" "PMM2_000007" "g.8904945C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811088C>A" "" "pathogenic" "" "0000471162" "1" "99" "16" "8904955" "8904955" "subst" "0" "02993" "PMM2_000011" "g.8904955C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811098C>T" "" "pathogenic" "" "0000471163" "1" "99" "16" "8904956" "8904956" "subst" "0.000107491" "02993" "PMM2_000015" "g.8904956G>A" "" "" "Hpy188I-" "" "" "Unknown" "" "" "0" "" "" "g.8811099G>A" "" "pathogenic" "" "0000471164" "2" "99" "16" "8904956" "8904956" "subst" "0.000107491" "02993" "PMM2_000015" "g.8904956G>A" "" "" "Hpy188I-" "" "" "Unknown" "" "" "0" "" "" "g.8811099G>A" "" "pathogenic" "" "0000471165" "1" "99" "16" "8904956" "8904956" "subst" "0.000107491" "02993" "PMM2_000015" "g.8904956G>A" "" "" "Hpy188I-" "" "" "Unknown" "" "" "0" "" "" "g.8811099G>A" "" "pathogenic" "" "0000471166" "2" "99" "16" "8904956" "8904956" "subst" "0.000107491" "02993" "PMM2_000015" "g.8904956G>A" "" "" "Hpy188I-" "" "" "Unknown" "" "" "0" "" "" "g.8811099G>A" "" "pathogenic" "" "0000471167" "1" "99" "16" "8904956" "8904956" "subst" "0.000107491" "02993" "PMM2_000015" "g.8904956G>A" "" "" "Hpy188I-" "" "" "Unknown" "" "" "0" "" "" "g.8811099G>A" "" "pathogenic" "" "0000471168" "1" "99" "16" "8904956" "8904956" "subst" "0.000107491" "02993" "PMM2_000015" "g.8904956G>A" "" "" "Hpy188I-" "" "" "Unknown" "" "" "0" "" "" "g.8811099G>A" "" "pathogenic" "" "0000471169" "1" "99" "16" "8904973" "8904973" "subst" "0" "02993" "PMM2_000006" "g.8904973G>A" "" "" "PciI+;HpyCH4IV-" "" "" "Unknown" "" "" "0" "" "" "g.8811116G>A" "" "pathogenic" "" "0000471170" "1" "99" "16" "8904973" "8904973" "subst" "0" "02993" "PMM2_000006" "g.8904973G>A" "" "" "PciI+;HpyCH4IV-" "" "" "Unknown" "" "" "0" "" "" "g.8811116G>A" "" "pathogenic" "" "0000471171" "1" "99" "16" "8904973" "8904973" "subst" "0" "02993" "PMM2_000006" "g.8904973G>A" "" "" "PciI+;HpyCH4IV-" "" "" "Unknown" "" "" "0" "" "" "g.8811116G>A" "" "pathogenic" "" "0000471172" "1" "99" "16" "8904973" "8904973" "subst" "0" "02993" "PMM2_000006" "g.8904973G>A" "" "" "PciI+;HpyCH4IV-" "" "" "Unknown" "" "" "0" "" "" "g.8811116G>A" "" "pathogenic" "" "0000471173" "1" "99" "16" "8904973" "8904973" "subst" "0" "02993" "PMM2_000006" "g.8904973G>A" "" "" "PciI+;HpyCH4IV-" "" "" "Unknown" "" "" "0" "" "" "g.8811116G>A" "" "pathogenic" "" "0000471174" "1" "99" "16" "8904973" "8904973" "subst" "0" "02993" "PMM2_000006" "g.8904973G>A" "" "" "PciI+;HpyCH4IV-" "" "" "Unknown" "" "" "0" "" "" "g.8811116G>A" "" "pathogenic" "" "0000471175" "1" "99" "16" "8904973" "8904973" "subst" "0" "02993" "PMM2_000006" "g.8904973G>A" "" "" "PciI+;HpyCH4IV-" "" "" "Unknown" "" "" "0" "" "" "g.8811116G>A" "" "pathogenic" "" "0000471176" "1" "99" "16" "8904973" "8904973" "subst" "0" "02993" "PMM2_000006" "g.8904973G>A" "" "" "PciI+;HpyCH4IV-" "" "" "Unknown" "" "" "0" "" "" "g.8811116G>A" "" "pathogenic" "" "0000471177" "1" "99" "16" "8904979" "8904979" "subst" "0" "02993" "PMM2_000018" "g.8904979C>G" "" "" "AciI+;BsmFI-" "" "" "Unknown" "" "" "0" "" "" "g.8811122C>G" "" "pathogenic" "" "0000471178" "2" "99" "16" "8904983" "8904983" "subst" "0" "02993" "PMM2_000023" "g.8904983T>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811126T>A" "" "pathogenic" "" "0000471179" "1" "99" "16" "8904983" "8904983" "subst" "0" "02993" "PMM2_000039" "g.8904983T>C" "" "" "BsrI+" "" "" "Unknown" "" "" "0" "" "" "g.8811126T>C" "" "pathogenic" "" "0000471180" "1" "99" "16" "8904983" "8904983" "subst" "0" "02993" "PMM2_000039" "g.8904983T>C" "" "" "BsrI+" "" "" "Unknown" "" "" "0" "" "" "g.8811126T>C" "" "pathogenic" "" "0000471181" "1" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471182" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471183" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471184" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471185" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471186" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471187" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471188" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471189" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471190" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471191" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471192" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471193" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471194" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471195" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471196" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471197" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471198" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471199" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471200" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471201" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471202" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471203" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471204" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471205" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471206" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471207" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471208" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471209" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471210" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471211" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471212" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471213" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471214" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471215" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471216" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471217" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471218" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471219" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471220" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471221" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471222" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471223" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471224" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471225" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471226" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471227" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471228" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" 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"0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471235" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471236" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471237" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471238" "0" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471239" "0" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471240" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471241" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471242" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471243" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471244" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471245" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471246" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471247" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471248" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471249" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471250" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471251" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471252" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471253" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471254" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471255" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471256" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471257" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471258" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471259" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471260" "2" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471261" "1" "99" "16" "8905010" "8905010" "subst" "0.00408222" "02993" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471262" "0" "95" "16" "8905010" "8905010" "subst" "0.00408222" "01479" "PMM2_000001" "g.8905010G>A" "" "{PMID:van de Warrenburg 2016:27165006}, {DOI:van de Warrenburg 2016: 10.1038/ejhg.2016.42}" "" "" "" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000471263" "1" "99" "16" "8905018" "8905018" "subst" "0.000154004" "02993" "PMM2_000044" "g.8905018T>C" "" "" "SacI+" "" "" "Unknown" "" "" "0" "" "" "g.8811161T>C" "" "pathogenic" "" "0000471264" "2" "99" "16" "8905030" "8905030" "subst" "0.000153055" "02993" "PMM2_000048" "g.8905030G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811173G>A" "" "pathogenic" "" "0000471265" "2" "99" "16" "8905040" "8905040" "subst" "4.89896E-5" "02993" "PMM2_000035" "g.8905040G>A" "" "" "HpyCH4IV-" "IVS5+5G>A" "" "Unknown" "" "" "0" "" "" "g.8811183G>A" "" "pathogenic" "" "0000471266" "2" "99" "16" "8905499" "8905499" "subst" "0" "02993" "PMM2_000042" "g.8905499A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811642A>G" "" "pathogenic" "" "0000471267" "1" "99" "16" "8905517" "8905517" "subst" "0.000296548" "02993" "PMM2_000004" "g.8905517T>C" "" "" "SfcI+" "" "" "Unknown" "" "" "0" "" "" "g.8811660T>C" "" "pathogenic" "" "0000471268" "1" "99" "16" "8905517" "8905517" "subst" "0.000296548" "02993" "PMM2_000004" "g.8905517T>C" "" "" "SfcI+" "" "" "Unknown" "" "" "0" "" "" "g.8811660T>C" "" "pathogenic" "" "0000471269" "1" "99" "16" "8905517" "8905517" "subst" "0.000296548" "02993" "PMM2_000004" "g.8905517T>C" "" "" "SfcI+" "" "" "Unknown" "" "" "0" "" "" "g.8811660T>C" "" "pathogenic" "" "0000471270" "2" "99" "16" "8905517" "8905517" "subst" "0.000296548" "02993" "PMM2_000004" "g.8905517T>C" "" "" "SfcI+" "" "" "Unknown" "" "" "0" "" "" "g.8811660T>C" "" "pathogenic" "" "0000471271" "2" "99" "16" "8905517" "8905517" "subst" "0.000296548" "02993" "PMM2_000004" "g.8905517T>C" "" "" "SfcI+" "" "" "Unknown" "" "" "0" "" "" "g.8811660T>C" "" "pathogenic" "" "0000471272" "1" "99" "16" "8905517" "8905517" "subst" "0.000296548" "02993" "PMM2_000004" "g.8905517T>C" "" "" "SfcI+" "" "" "Unknown" "" "" "0" "" "" "g.8811660T>C" "" "pathogenic" "" "0000471273" "2" "99" "16" "8905531" "8905531" "subst" "1.62488E-5" "02993" "PMM2_000012" "g.8905531C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811674C>T" "" "pathogenic" "" "0000471274" "1" "99" "16" "8905531" "8905531" "subst" "1.62488E-5" "02993" "PMM2_000012" "g.8905531C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8811674C>T" "" "pathogenic" "" "0000471275" "2" "99" "16" "8905570" "8905570" "subst" "0" "02993" "PMM2_000037" "g.8905570G>C" "" "" "BsaAI+" "" "" "Unknown" "" "" "0" "" "" "g.8811713G>C" "" "pathogenic" "" "0000471276" "2" "99" "16" "8906880" "8906880" "subst" "4.06098E-6" "02993" "PMM2_000045" "g.8906880G>A" "" "" "FokI-" "" "" "Unknown" "" "" "0" "" "" "g.8813023G>A" "" "pathogenic" "" "0000471277" "1" "99" "16" "8906885" "8906885" "subst" "0" "02993" "PMM2_000040" "g.8906885G>C" "" "" "SfaNI+;BsmFI-" "" "" "Unknown" "" "" "0" "" "" "g.8813028G>C" "" "pathogenic" "" "0000471278" "1" "99" "16" "8906887" "8906887" "subst" "4.06085E-6" "02993" "PMM2_000010" "g.8906887A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8813030A>G" "" "pathogenic" "" "0000471279" "1" "99" "16" "8906887" "8906887" "subst" "4.06085E-6" "02993" "PMM2_000010" "g.8906887A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8813030A>G" "" "pathogenic" "" "0000471280" "1" "99" "16" "8906887" "8906887" "subst" "4.06085E-6" "02993" "PMM2_000010" "g.8906887A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8813030A>G" "" "pathogenic" "" "0000471281" "1" "99" "16" "8906908" "8906908" "subst" "0" "02993" "PMM2_000027" "g.8906908A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8813051A>G" "" "pathogenic" "" "0000471282" "1" "99" "16" "8906947" "8906947" "subst" "0" "02993" "PMM2_000036" "g.8906947G>C" "" "" "HpyCH4V+;BsmAI-" "" "" "Unknown" "" "" "0" "" "" "g.8813090G>C" "" "pathogenic" "" "0000471283" "2" "99" "16" "8941581" "8941581" "subst" "0" "02993" "PMM2_000002" "g.8941581G>A" "" "" "Hpy188III+;BsaJI-" "" "" "Unknown" "" "" "0" "" "" "g.8847724G>A" "" "pathogenic" "" "0000471284" "2" "99" "16" "8941581" "8941581" "subst" "0" "02993" "PMM2_000002" "g.8941581G>A" "" "" "Hpy188III+;BsaJI-" "" "" "Unknown" "" "" "0" "" "" "g.8847724G>A" "" "pathogenic" "" "0000471285" "2" "99" "16" "8941581" "8941581" "subst" "0" "02993" "PMM2_000002" "g.8941581G>A" "" "" "Hpy188III+;BsaJI-" "" "" "Unknown" "" "" "0" "" "" "g.8847724G>A" "" "pathogenic" "" "0000471286" "2" "99" "16" "8941581" "8941581" "subst" "0" "02993" "PMM2_000002" "g.8941581G>A" "" "" "Hpy188III+;BsaJI-" "" "" "Unknown" "" "" "0" "" "" "g.8847724G>A" "" "pathogenic" "" "0000471287" "1" "99" "16" "8941588" "8941588" "subst" "0" "02993" "PMM2_000024" "g.8941588A>T" "" "" "BsrDI-" "" "" "Unknown" "" "" "0" "" "" "g.8847731A>T" "" "pathogenic" "" "0000471288" "2" "99" "16" "8941588" "8941588" "subst" "0" "02993" "PMM2_000024" "g.8941588A>T" "" "" "BsrDI-" "" "" "Unknown" "" "" "0" "" "" "g.8847731A>T" "" "pathogenic" "" "0000471289" "1" "99" "16" "8941588" "8941588" "subst" "0" "02993" "PMM2_000024" "g.8941588A>T" "" "" "BsrDI-" "" "" "Unknown" "" "" "0" "" "" "g.8847731A>T" "" "pathogenic" "" "0000471290" "1" "99" "16" "8941588" "8941588" "subst" "0" "02993" "PMM2_000024" "g.8941588A>T" "" "" "BsrDI-" "" "" "Unknown" "" "" "0" "" "" "g.8847731A>T" "" "pathogenic" "" "0000471291" "2" "99" "16" "8941608" "8941608" "subst" "0" "02993" "PMM2_000031" "g.8941608G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8847751G>A" "" "pathogenic" "" "0000471292" "2" "99" "16" "8941618" "8941618" "subst" "4.06273E-6" "02993" "PMM2_000016" "g.8941618C>G" "" "" "NcoI-" "" "" "Unknown" "" "" "0" "" "" "g.8847761C>G" "" "pathogenic" "" "0000471293" "1" "99" "16" "8941618" "8941618" "subst" "4.06273E-6" "02993" "PMM2_000016" "g.8941618C>G" "" "" "NcoI-" "" "" "Unknown" "" "" "0" "" "" "g.8847761C>G" "" "pathogenic" "" "0000471294" "2" "99" "16" "8941627" "8941627" "subst" "0" "02993" "PMM2_000025" "g.8941627A>C" "" "" "BanII+" "" "" "Unknown" "" "" "0" "" "" "g.8847770A>C" "" "pathogenic" "" "0000471295" "2" "99" "16" "8941632" "8941632" "subst" "6.90821E-5" "02993" "PMM2_000005" "g.8941632G>A" "" "" "Tsp45I-" "" "" "Unknown" "" "" "0" "" "" "g.8847775G>A" "" "pathogenic" "" "0000471296" "2" "99" "16" "8941632" "8941632" "subst" "6.90821E-5" "02993" "PMM2_000005" "g.8941632G>A" "" "" "Tsp45I-" "" "" "Unknown" "" "" "0" "" "" "g.8847775G>A" "" "pathogenic" "" "0000471297" "2" "99" "16" "8941632" "8941632" "subst" "6.90821E-5" "02993" "PMM2_000005" "g.8941632G>A" "" "" "Tsp45I-" "" "" "Unknown" "" "" "0" "" "" "g.8847775G>A" "" "pathogenic" "" "0000471298" "1" "99" "16" "8941632" "8941632" "subst" "6.90821E-5" "02993" "PMM2_000005" "g.8941632G>A" "" "" "Tsp45I-" "" "" "Unknown" "" "" "0" "" "" "g.8847775G>A" "" "pathogenic" "" "0000471299" "1" "99" "16" "8941632" "8941632" "subst" "6.90821E-5" "02993" "PMM2_000005" "g.8941632G>A" "" "" "Tsp45I-" "" "" "Unknown" "" "" "0" "" "" "g.8847775G>A" "" "pathogenic" "" "0000471300" "1" "99" "16" "8941632" "8941632" "subst" "6.90821E-5" "02993" "PMM2_000005" "g.8941632G>A" "" "" "Tsp45I-" "" "" "Unknown" "" "" "0" "" "" "g.8847775G>A" "" "pathogenic" "" "0000471301" "1" "99" "16" "8941632" "8941632" "subst" "6.90821E-5" "02993" "PMM2_000005" "g.8941632G>A" "" "" "Tsp45I-" "" "" "Unknown" "" "" "0" "" "" "g.8847775G>A" "" "pathogenic" "" "0000471302" "1" "99" "16" "8941632" "8941632" "subst" "6.90821E-5" "02993" "PMM2_000005" "g.8941632G>A" "" "" "Tsp45I-" "" "" "Unknown" "" "" "0" "" "" "g.8847775G>A" "" "pathogenic" "" "0000471303" "1" "99" "16" "8941632" "8941632" "subst" "6.90821E-5" "02993" "PMM2_000005" "g.8941632G>A" "" "" "Tsp45I-" "" "" "Unknown" "" "" "0" "" "" "g.8847775G>A" "" "pathogenic" "" "0000471304" "1" "99" "16" "8941632" "8941632" "subst" "6.90821E-5" "02993" "PMM2_000005" "g.8941632G>A" "" "" "Tsp45I-" "" "" "Unknown" "" "" "0" "" "" "g.8847775G>A" "" "pathogenic" "" "0000471305" "1" "99" "16" "8941632" "8941632" "subst" "6.90821E-5" "02993" "PMM2_000005" "g.8941632G>A" "" "" "Tsp45I-" "" "" "Unknown" "" "" "0" "" "" "g.8847775G>A" "" "pathogenic" "" "0000471306" "1" "99" "16" "8941632" "8941632" "subst" "6.90821E-5" "02993" "PMM2_000005" "g.8941632G>A" "" "" "Tsp45I-" "" "" "Unknown" "" "" "0" "" "" "g.8847775G>A" "" "pathogenic" "" "0000471307" "1" "99" "16" "8941632" "8941632" "subst" "6.90821E-5" "02993" "PMM2_000005" "g.8941632G>A" "" "" "Tsp45I-" "" "" "Unknown" "" "" "0" "" "" "g.8847775G>A" "" "pathogenic" "" "0000471308" "1" "99" "16" "8941632" "8941632" "subst" "6.90821E-5" "02993" "PMM2_000005" "g.8941632G>A" "" "" "Tsp45I-" "" "" "Unknown" "" "" "0" "" "" "g.8847775G>A" "" "pathogenic" "" "0000471309" "1" "99" "16" "8941632" "8941632" "subst" "6.90821E-5" "02993" "PMM2_000005" "g.8941632G>A" "" "" "Tsp45I-" "" "" "Unknown" "" "" "0" "" "" "g.8847775G>A" "" "pathogenic" "" "0000471310" "1" "99" "16" "8941632" "8941632" "subst" "6.90821E-5" "02993" "PMM2_000005" "g.8941632G>A" "" "" "Tsp45I-" "" "" "Unknown" "" "" "0" "" "" "g.8847775G>A" "" "pathogenic" "" "0000471311" "2" "99" "16" "8941632" "8941632" "subst" "6.90821E-5" "02993" "PMM2_000005" "g.8941632G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8847775G>A" "" "pathogenic" "" "0000471312" "1" "99" "16" "8941632" "8941632" "subst" "6.90821E-5" "02993" "PMM2_000005" "g.8941632G>A" "" "" "Tsp45I-" "" "" "Unknown" "" "" "0" "" "" "g.8847775G>A" "" "pathogenic" "" "0000471313" "1" "99" "16" "8941632" "8941632" "subst" "6.90821E-5" "02993" "PMM2_000005" "g.8941632G>A" "" "" "Tsp45I-" "" "" "Unknown" "" "" "0" "" "" "g.8847775G>A" "" "pathogenic" "" "0000471314" "1" "99" "16" "8941632" "8941632" "subst" "6.90821E-5" "02993" "PMM2_000005" "g.8941632G>A" "" "" "Tsp45I-" "" "" "Unknown" "" "" "0" "" "" "g.8847775G>A" "" "pathogenic" "" "0000471315" "1" "99" "16" "8941632" "8941632" "subst" "6.90821E-5" "02993" "PMM2_000005" "g.8941632G>A" "" "" "Tsp45I-" "" "" "Unknown" "" "" "0" "" "" "g.8847775G>A" "" "pathogenic" "" "0000471316" "1" "99" "16" "8941632" "8941632" "subst" "6.90821E-5" "02993" "PMM2_000005" "g.8941632G>A" "" "" "Tsp45I-" "" "" "Unknown" "" "" "0" "" "" "g.8847775G>A" "" "pathogenic" "" "0000471317" "1" "99" "16" "8941651" "8941651" "subst" "0.000130114" "02993" "PMM2_000032" "g.8941651C>G" "" "" "BstUI-" "" "" "Unknown" "" "" "0" "" "" "g.8847794C>G" "" "pathogenic" "" "0000471318" "2" "99" "16" "8941651" "8941651" "subst" "0.000130114" "02993" "PMM2_000032" "g.8941651C>G" "" "" "BstUI-" "" "" "Unknown" "" "" "0" "" "" "g.8847794C>G" "" "pathogenic" "" "0000471319" "1" "99" "16" "8941651" "8941651" "subst" "4.06607E-5" "02993" "PMM2_000014" "g.8941651C>T" "" "" "FatI+;BstUI-" "" "" "Unknown" "" "" "0" "" "" "g.8847794C>T" "" "pathogenic" "" "0000471320" "1" "99" "16" "8941651" "8941651" "subst" "4.06607E-5" "02993" "PMM2_000014" "g.8941651C>T" "" "" "FatI+;BstUI-" "" "" "Unknown" "" "" "0" "" "" "g.8847794C>T" "" "pathogenic" "" "0000471321" "1" "99" "16" "8941651" "8941651" "subst" "4.06607E-5" "02993" "PMM2_000014" "g.8941651C>T" "" "" "FatI+;BstUI-" "" "" "Unknown" "" "" "0" "" "" "g.8847794C>T" "" "pathogenic" "" "0000471322" "2" "99" "16" "8941651" "8941651" "subst" "4.06607E-5" "02993" "PMM2_000014" "g.8941651C>T" "" "" "FatI+;BstUI-" "" "" "Unknown" "" "" "0" "" "" "g.8847794C>T" "" "pathogenic" "" "0000471323" "1" "99" "16" "8941663" "8941663" "subst" "5.69819E-5" "02993" "PMM2_000009" "g.8941663G>C" "" "" "Hpy188I+;AlwNI-" "" "" "Unknown" "" "" "0" "" "" "g.8847806G>C" "" "pathogenic" "" "0000471324" "1" "99" "16" "8941663" "8941663" "subst" "5.69819E-5" "02993" "PMM2_000009" "g.8941663G>C" "" "" "Hpy188I+;AlwNI-" "" "" "Unknown" "" "" "0" "" "" "g.8847806G>C" "" "pathogenic" "" "0000471325" "1" "99" "16" "8941663" "8941663" "subst" "5.69819E-5" "02993" "PMM2_000009" "g.8941663G>C" "" "" "Hpy188I+;AlwNI-" "" "" "Unknown" "" "" "0" "" "" "g.8847806G>C" "" "pathogenic" "" "0000471326" "2" "99" "16" "8941663" "8941663" "subst" "5.69819E-5" "02993" "PMM2_000009" "g.8941663G>C" "" "" "Hpy188I+;AlwNI-" "" "" "Unknown" "" "" "0" "" "" "g.8847806G>C" "" "pathogenic" "" "0000471327" "1" "99" "16" "8941663" "8941663" "subst" "5.69819E-5" "02993" "PMM2_000009" "g.8941663G>C" "" "" "Hpy188I+;AlwNI-" "" "" "Unknown" "" "" "0" "" "" "g.8847806G>C" "" "pathogenic" "" "0000471328" "1" "99" "16" "8941663" "8941663" "subst" "5.69819E-5" "02993" "PMM2_000009" "g.8941663G>C" "" "" "Hpy188I+;AlwNI-" "" "" "Unknown" "" "" "0" "" "" "g.8847806G>C" "" "pathogenic" "" "0000471329" "1" "99" "16" "8941663" "8941663" "subst" "5.69819E-5" "02993" "PMM2_000009" "g.8941663G>C" "" "" "Hpy188I+;AlwNI-" "" "" "Unknown" "" "" "0" "" "" "g.8847806G>C" "" "pathogenic" "" "0000471330" "1" "99" "16" "8941663" "8941663" "subst" "5.69819E-5" "02993" "PMM2_000009" "g.8941663G>C" "" "" "Hpy188I+;AlwNI-" "" "" "Unknown" "" "" "0" "" "" "g.8847806G>C" "" "pathogenic" "" "0000471331" "2" "99" "16" "8941663" "8941663" "subst" "5.69819E-5" "02993" "PMM2_000009" "g.8941663G>C" "" "" "Hpy188I+;AlwNI-" "" "" "Unknown" "" "" "0" "" "" "g.8847806G>C" "" "pathogenic" "" "0000471332" "0" "95" "16" "8941663" "8941663" "subst" "5.69819E-5" "01479" "PMM2_000009" "g.8941663G>C" "" "{PMID:van de Warrenburg 2016:27165006}, {DOI:van de Warrenburg 2016: 10.1038/ejhg.2016.42}" "Hpy188I+;AlwNI-" "" "" "Unknown" "" "" "0" "" "" "g.8847806G>C" "" "pathogenic" "" "0000559743" "0" "90" "16" "8891800" "8891800" "subst" "4.49834E-6" "01943" "PMM2_000051" "g.8891800C>G" "" "" "" "PMM2(NM_000303.2):c.61C>G (p.R21G), PMM2(NM_000303.3):c.61C>G (p.(Arg21Gly), p.R21G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8797943C>G" "" "pathogenic" "" "0000559752" "0" "50" "16" "8895650" "8895650" "subst" "0" "02327" "PMM2_000078" "g.8895650A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8801793A>G" "" "VUS" "" "0000559753" "0" "30" "16" "8895679" "8895679" "subst" "0.000621983" "01943" "PMM2_000079" "g.8895679C>G" "" "" "" "PMM2(NM_000303.2):c.90C>G (p.D30E), PMM2(NM_000303.3):c.90C>G (p.D30E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8801822C>G" "" "likely benign" "" "0000559754" "0" "50" "16" "8895713" "8895713" "subst" "1.63464E-5" "02327" "PMM2_000021" "g.8895713G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8801856G>A" "" "VUS" "" "0000559756" "0" "90" "16" "8895749" "8895749" "dup" "0" "01943" "PMM2_000081" "g.8895749dup" "" "" "" "PMM2(NM_000303.2):c.160dupG (p.E54Gfs*6), PMM2(NM_000303.3):c.160dup (p.(Glu54Glyfs*6))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8801892dup" "" "pathogenic" "" "0000559757" "0" "10" "16" "8898609" "8898609" "dup" "0" "02330" "PMM2_000082" "g.8898609dup" "" "" "" "PMM2(NM_000303.3):c.179-15dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8804752dup" "" "benign" "" "0000559758" "0" "90" "16" "8898650" "8898650" "subst" "0" "02327" "PMM2_000026" "g.8898650C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8804793C>T" "" "pathogenic" "" "0000559759" "0" "50" "16" "8898693" "8898693" "subst" "3.24971E-5" "02330" "PMM2_000083" "g.8898693G>A" "" "" "" "PMM2(NM_000303.3):c.248G>A (p.C83Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8804836G>A" "" "VUS" "" "0000559761" "0" "90" "16" "8900255" "8900255" "subst" "2.8434E-5" "02327" "PMM2_000013" "g.8900255C>T" "" "" "" "PMM2(NM_000303.2):c.338C>T (p.P113L), PMM2(NM_000303.3):c.338C>T (p.P113L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8806398C>T" "" "pathogenic" "" "0000559762" "0" "90" "16" "8904945" "8904945" "subst" "0" "02327" "PMM2_000007" "g.8904945C>A" "" "" "" "PMM2(NM_000303.2):c.357C>A (p.F119L, p.(Phe119Leu)), PMM2(NM_000303.3):c.357C>A (p.F119L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8811088C>A" "" "pathogenic" "" "0000559763" "0" "90" "16" "8905010" "8905010" "subst" "0.00408222" "01804" "PMM2_000001" "g.8905010G>A" "" "" "" "PMM2(NM_000303.2):c.422G>A (p.R141H, p.(Arg141His)), PMM2(NM_000303.3):c.422G>A (p.R141H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8811153G>A" "" "pathogenic" "" "0000559764" "0" "90" "16" "8905030" "8905030" "subst" "0.000153055" "02327" "PMM2_000048" "g.8905030G>A" "" "" "" "PMM2(NM_000303.3):c.442G>A (p.D148N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8811173G>A" "" "pathogenic" "" "0000559765" "0" "90" "16" "8905531" "8905531" "subst" "1.62488E-5" "02327" "PMM2_000012" "g.8905531C>T" "" "" "" "PMM2(NM_000303.3):c.484C>T (p.R162W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8811674C>T" "" "pathogenic" "" "0000559766" "0" "70" "16" "8906851" "8906851" "subst" "0" "02330" "PMM2_000084" "g.8906851G>T" "" "" "" "PMM2(NM_000303.3):c.527G>T (p.G176V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8812994G>T" "" "likely pathogenic" "" "0000559767" "0" "70" "16" "8906904" "8906904" "subst" "2.43669E-5" "02330" "PMM2_000085" "g.8906904C>T" "" "" "" "PMM2(NM_000303.3):c.580C>T (p.R194*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8813047C>T" "" "likely pathogenic" "" "0000559768" "0" "50" "16" "8906910" "8906910" "subst" "5.27927E-5" "01943" "PMM2_000086" "g.8906910G>A" "" "" "" "PMM2(NM_000303.2):c.586G>A (p.V196M), PMM2(NM_000303.3):c.586G>A (p.(Val196Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8813053G>A" "" "VUS" "" "0000559770" "0" "50" "16" "8906926" "8906926" "subst" "0.000113707" "01943" "PMM2_000087" "g.8906926A>G" "" "" "" "PMM2(NM_000303.2):c.602A>G (p.Y201C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8813069A>G" "" "VUS" "" "0000559916" "0" "50" "16" "8941581" "8941581" "subst" "0" "02327" "PMM2_000002" "g.8941581G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8847724G>A" "" "VUS" "" "0000559917" "0" "90" "16" "8941632" "8941632" "subst" "6.90821E-5" "02327" "PMM2_000005" "g.8941632G>A" "" "" "" "PMM2(NM_000303.3):c.691G>A (p.(Val231Met), p.V231M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8847775G>A" "" "pathogenic" "" "0000559918" "0" "90" "16" "8941651" "8941651" "subst" "0.000130114" "02330" "PMM2_000032" "g.8941651C>G" "" "" "" "PMM2(NM_000303.3):c.710C>G (p.T237R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8847794C>G" "" "pathogenic" "" "0000559919" "0" "50" "16" "8941654" "8941654" "subst" "0.000569458" "02330" "PMM2_000088" "g.8941654G>A" "" "" "" "PMM2(NM_000303.2):c.713G>A (p.R238H), PMM2(NM_000303.3):c.713G>A (p.R238H, p.(Arg238His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8847797G>A" "" "VUS" "" "0000559920" "0" "50" "16" "8941654" "8941654" "subst" "0.000569458" "01804" "PMM2_000088" "g.8941654G>A" "" "" "" "PMM2(NM_000303.2):c.713G>A (p.R238H), PMM2(NM_000303.3):c.713G>A (p.R238H, p.(Arg238His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8847797G>A" "" "VUS" "" "0000559921" "0" "50" "16" "8941654" "8941654" "subst" "0.000569458" "02327" "PMM2_000088" "g.8941654G>A" "" "" "" "PMM2(NM_000303.2):c.713G>A (p.R238H), PMM2(NM_000303.3):c.713G>A (p.R238H, p.(Arg238His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8847797G>A" "" "VUS" "" "0000559922" "0" "90" "16" "8941663" "8941663" "subst" "5.69819E-5" "01943" "PMM2_000009" "g.8941663G>C" "" "" "" "PMM2(NM_000303.2):c.722G>C (p.C241S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8847806G>C" "" "pathogenic" "" "0000616243" "0" "90" "16" "8898702" "8898702" "subst" "6.49994E-5" "02327" "PMM2_000043" "g.8898702T>C" "" "" "" "PMM2(NM_000303.2):c.255+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8804845T>C" "" "pathogenic" "" "0000616244" "0" "90" "16" "8904945" "8904945" "subst" "0" "01943" "PMM2_000007" "g.8904945C>A" "" "" "" "PMM2(NM_000303.2):c.357C>A (p.F119L, p.(Phe119Leu)), PMM2(NM_000303.3):c.357C>A (p.F119L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8811088C>A" "" "pathogenic" "" "0000616245" "0" "70" "16" "8904947" "8904947" "subst" "8.37802E-5" "02327" "PMM2_000089" "g.8904947T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8811090T>C" "" "likely pathogenic" "" "0000616246" "0" "70" "16" "8905505" "8905509" "del" "0" "01943" "PMM2_000090" "g.8905505_8905509del" "" "" "" "PMM2(NM_000303.2):c.458_462delTAAGA (p.I153Tfs*27)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8811648_8811652del" "" "likely pathogenic" "" "0000616247" "0" "30" "16" "8906832" "8906832" "subst" "2.43649E-5" "02327" "PMM2_000091" "g.8906832C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8812975C>T" "" "likely benign" "" "0000616248" "0" "30" "16" "8906982" "8906982" "subst" "0.000211192" "02330" "PMM2_000092" "g.8906982G>C" "" "" "" "PMM2(NM_000303.3):c.639+19G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8813125G>C" "" "likely benign" "" "0000616285" "0" "50" "16" "8941612" "8941612" "subst" "8.12605E-6" "02327" "PMM2_000093" "g.8941612C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8847755C>G" "" "VUS" "" "0000623582" "0" "30" "16" "8941652" "8941652" "subst" "1.62665E-5" "02326" "PMM2_000094" "g.8941652G>A" "" "" "" "PMM2(NM_000303.3):c.711G>A (p.T237=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8847795G>A" "" "likely benign" "" "0000649441" "1" "90" "16" "8895684" "8895684" "subst" "4.10826E-6" "03575" "PMM2_000095" "g.8895684T>G" "2/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs398123312}" "Germline" "" "rs398123312" "0" "" "" "g.8801827T>G" "" "pathogenic" "" "0000649442" "1" "50" "16" "8900241" "8900241" "subst" "0.0166728" "03575" "PMM2_000056" "g.8900241G>A" "168/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 168 heterozygous; {DB:CLININrs62031146}" "Germline" "" "rs62031146" "0" "" "" "g.8806384G>A" "" "VUS" "" "0000649443" "1" "90" "16" "8905010" "8905010" "subst" "0.00408222" "03575" "PMM2_000001" "g.8905010G>A" "3/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs28936415}" "Germline" "" "rs28936415" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0000649451" "1" "50" "16" "8943042" "8943042" "subst" "0" "03575" "PMM2_000096" "g.8943042C>T" "47/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "47 heterozygous, no homozygous; {DB:CLININrs72766381}" "Germline" "" "rs72766381" "0" "" "" "g.8849185C>T" "" "VUS" "" "0000657987" "0" "70" "16" "8906880" "8906880" "subst" "4.06098E-6" "02327" "PMM2_000045" "g.8906880G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8813023G>A" "" "likely pathogenic" "" "0000669364" "3" "50" "16" "8900241" "8900241" "subst" "0.0166728" "03575" "PMM2_000056" "g.8900241G>A" "8/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 8 homozygous; {DB:CLININrs62031146}" "Germline" "" "rs62031146" "0" "" "" "g.8806384G>A" "" "VUS" "" "0000680748" "0" "50" "16" "8941598" "8941598" "subst" "0.000105657" "01943" "PMM2_000072" "g.8941598G>C" "" "" "" "PMM2(NM_000303.2):c.657G>C (p.E219D), PMM2(NM_000303.3):c.657G>C (p.E219D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692202" "0" "30" "16" "8895682" "8895682" "subst" "0.000489486" "02326" "PMM2_000097" "g.8895682C>T" "" "" "" "PMM2(NM_000303.3):c.93C>T (p.F31=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692203" "0" "30" "16" "8904954" "8904954" "subst" "0.00068831" "02326" "PMM2_000098" "g.8904954C>T" "" "" "" "PMM2(NM_000303.3):c.366C>T (p.F122=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692215" "0" "30" "16" "8941568" "8941568" "subst" "0.000150577" "02326" "PMM2_000065" "g.8941568C>T" "" "" "" "PMM2(NM_000303.3):c.640-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692216" "0" "50" "16" "8941654" "8941654" "subst" "0.000569458" "01943" "PMM2_000088" "g.8941654G>A" "" "" "" "PMM2(NM_000303.2):c.713G>A (p.R238H), PMM2(NM_000303.3):c.713G>A (p.R238H, p.(Arg238His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726045" "0" "30" "16" "8891810" "8891810" "subst" "5.23854E-5" "02325" "PMM2_000099" "g.8891810G>A" "" "" "" "PMM2(NM_000303.3):c.66+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726046" "0" "50" "16" "8895717" "8895717" "subst" "0" "02329" "PMM2_000080" "g.8895717T>C" "" "" "" "PMM2(NM_000303.2):c.128T>C (p.V43A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726047" "0" "90" "16" "8895729" "8895729" "subst" "4.09594E-6" "01943" "PMM2_000100" "g.8895729C>A" "" "" "" "PMM2(NM_000303.2):c.140C>A (p.S47*), PMM2(NM_000303.3):c.140C>A (p.(Ser47*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000726048" "0" "70" "16" "8895758" "8895758" "subst" "0" "02327" "PMM2_000101" "g.8895758G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000726049" "0" "90" "16" "8898638" "8898638" "subst" "0" "02329" "PMM2_000019" "g.8898638G>T" "" "" "" "PMM2(NM_000303.3):c.193G>T (p.D65Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000726050" "0" "90" "16" "8898702" "8898702" "subst" "6.49994E-5" "01943" "PMM2_000043" "g.8898702T>C" "" "" "" "PMM2(NM_000303.2):c.255+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000726051" "0" "30" "16" "8905039" "8905039" "subst" "0.000152553" "02325" "PMM2_000102" "g.8905039C>T" "" "" "" "PMM2(NM_000303.3):c.447+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726052" "0" "90" "16" "8905517" "8905517" "subst" "0.000296548" "02329" "PMM2_000004" "g.8905517T>C" "" "" "" "PMM2(NM_000303.2):c.470T>C (p.F157S), PMM2(NM_000303.3):c.470T>C (p.(Phe157Ser), p.F157S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000807702" "0" "50" "16" "8904956" "8904956" "subst" "5.37455E-6" "01943" "PMM2_000103" "g.8904956G>T" "" "" "" "PMM2(NM_000303.2):c.368G>T (p.R123L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807703" "0" "30" "16" "8905023" "8905023" "subst" "2.25149E-5" "01943" "PMM2_000104" "g.8905023C>T" "" "" "" "PMM2(NM_000303.2):c.435C>T (p.Y145=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807704" "0" "90" "16" "8905517" "8905517" "subst" "0.000296548" "01943" "PMM2_000004" "g.8905517T>C" "" "" "" "PMM2(NM_000303.2):c.470T>C (p.F157S), PMM2(NM_000303.3):c.470T>C (p.(Phe157Ser), p.F157S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000854707" "0" "30" "16" "8895774" "8895774" "subst" "0" "01943" "PMM2_000105" "g.8895774G>A" "" "" "" "PMM2(NM_000303.2):c.178+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854708" "0" "70" "16" "8900240" "8900240" "subst" "1.21852E-5" "02327" "PMM2_000033" "g.8900240C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000854709" "0" "50" "16" "8900255" "8900255" "subst" "2.8434E-5" "01943" "PMM2_000013" "g.8900255C>T" "" "" "" "PMM2(NM_000303.2):c.338C>T (p.P113L), PMM2(NM_000303.3):c.338C>T (p.P113L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854710" "0" "50" "16" "8905040" "8905040" "subst" "4.89896E-5" "02326" "PMM2_000035" "g.8905040G>A" "" "" "" "PMM2(NM_000303.3):c.447+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865003" "0" "50" "16" "8900172" "8900172" "subst" "1.21874E-5" "01943" "PMM2_000106" "g.8900172G>C" "" "" "" "PMM2(NM_000303.2):c.256-1G>C, PMM2(NM_000303.3):c.256-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865024" "0" "50" "16" "8941598" "8941598" "subst" "0.000105657" "02325" "PMM2_000072" "g.8941598G>C" "" "" "" "PMM2(NM_000303.2):c.657G>C (p.E219D), PMM2(NM_000303.3):c.657G>C (p.E219D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000868533" "11" "70" "16" "8898639" "8898639" "subst" "0" "02568" "PMM2_000107" "g.8898639A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.8804782A>G" "" "pathogenic (recessive)" "" "0000868534" "21" "70" "16" "8905517" "8905517" "subst" "0.000296548" "02568" "PMM2_000004" "g.8905517T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.8811660T>C" "" "pathogenic (recessive)" "" "0000868535" "0" "70" "16" "8905520" "8905520" "subst" "0" "02568" "PMM2_000109" "g.8905520T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.8811663T>C" "" "pathogenic (recessive)" "" "0000868536" "0" "70" "16" "8898635" "8898635" "del" "4.06157E-6" "02568" "PMM2_000108" "g.8898635del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.8804778del" "" "pathogenic (recessive)" "" "0000868539" "0" "70" "16" "8941587" "8941587" "subst" "1.21935E-5" "02568" "PMM2_000110" "g.8941587A>G" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.8847730A>G" "" "pathogenic (recessive)" "" "0000868540" "0" "90" "16" "8905010" "8905010" "subst" "0.00408222" "02568" "PMM2_000001" "g.8905010G>A" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.8811153G>A" "" "pathogenic (recessive)" "" "0000868541" "21" "70" "16" "8941651" "8941651" "subst" "0" "02568" "PMM2_000111" "g.8941651C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.8847794C>A" "" "pathogenic (recessive)" "" "0000868542" "11" "70" "16" "8900255" "8900255" "subst" "2.8434E-5" "02568" "PMM2_000013" "g.8900255C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.8806398C>T" "" "pathogenic (recessive)" "" "0000873918" "0" "10" "16" "8905010" "8905010" "subst" "0.00408222" "00000" "PMM2_000001" "g.8905010G>A" "" "{PMID:Bell 2011:21228398}" "" "PMM2 16:8812511 (hg18) het CM971228" "non-causative, heterozygous" "Germline" "?" "" "0" "" "" "g.8811153G>A" "" "benign" "" "0000893228" "0" "30" "16" "8895699" "8895699" "subst" "0.0010756" "02326" "PMM2_000112" "g.8895699A>T" "" "" "" "PMM2(NM_000303.3):c.110A>T (p.Q37L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893229" "0" "90" "16" "8895741" "8895741" "subst" "0" "01804" "PMM2_000113" "g.8895741A>G" "" "" "" "PMM2(NM_000303.2):c.152A>G (p.(Lys51Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000893230" "0" "10" "16" "8900241" "8900241" "subst" "0.0166728" "02327" "PMM2_000056" "g.8900241G>A" "" "" "" "PMM2(NM_000303.3):c.324G>A (p.A108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914712" "0" "70" "16" "8891792" "8891792" "subst" "1.76438E-5" "02327" "PMM2_000038" "g.8891792C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000914713" "0" "70" "16" "8891800" "8891800" "subst" "4.49834E-6" "02327" "PMM2_000051" "g.8891800C>G" "" "" "" "PMM2(NM_000303.2):c.61C>G (p.R21G), PMM2(NM_000303.3):c.61C>G (p.(Arg21Gly), p.R21G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000914714" "0" "90" "16" "8905030" "8905030" "subst" "0.000153055" "02326" "PMM2_000048" "g.8905030G>A" "" "" "" "PMM2(NM_000303.3):c.442G>A (p.D148N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000926369" "0" "50" "16" "8898694" "8898694" "subst" "0" "02327" "PMM2_000114" "g.8898694T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926378" "0" "30" "16" "8941653" "8941653" "subst" "0.00107759" "02326" "PMM2_000115" "g.8941653C>T" "" "" "" "PMM2(NM_000303.3):c.712C>T (p.R238C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930670" "0" "90" "16" "8900172" "8900172" "subst" "1.21874E-5" "02326" "PMM2_000106" "g.8900172G>C" "" "" "" "PMM2(NM_000303.2):c.256-1G>C, PMM2(NM_000303.3):c.256-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000930679" "0" "90" "16" "8941651" "8941651" "subst" "4.06607E-5" "02326" "PMM2_000014" "g.8941651C>T" "" "" "" "PMM2(NM_000303.3):c.710C>T (p.T237M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000950765" "0" "30" "16" "8895679" "8895679" "subst" "0.000621983" "02326" "PMM2_000079" "g.8895679C>G" "" "" "" "PMM2(NM_000303.2):c.90C>G (p.D30E), PMM2(NM_000303.3):c.90C>G (p.D30E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950766" "0" "90" "16" "8905531" "8905531" "subst" "1.62488E-5" "02326" "PMM2_000012" "g.8905531C>T" "" "" "" "PMM2(NM_000303.3):c.484C>T (p.R162W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000982196" "0" "90" "16" "8895749" "8895749" "dup" "0" "01804" "PMM2_000081" "g.8895749dup" "" "" "" "PMM2(NM_000303.2):c.160dupG (p.E54Gfs*6), PMM2(NM_000303.3):c.160dup (p.(Glu54Glyfs*6))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000982197" "0" "90" "16" "8905499" "8905499" "subst" "0" "01804" "PMM2_000042" "g.8905499A>G" "" "" "" "PMM2(NM_000303.3):c.452A>G (p.(Glu151Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000982219" "0" "90" "16" "8941632" "8941632" "subst" "6.90821E-5" "01804" "PMM2_000005" "g.8941632G>A" "" "" "" "PMM2(NM_000303.3):c.691G>A (p.(Val231Met), p.V231M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001002734" "0" "90" "16" "8904945" "8904945" "subst" "0" "01804" "PMM2_000007" "g.8904945C>A" "" "" "" "PMM2(NM_000303.2):c.357C>A (p.F119L, p.(Phe119Leu)), PMM2(NM_000303.3):c.357C>A (p.F119L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001041466" "0" "90" "16" "8895729" "8895729" "subst" "4.09594E-6" "01804" "PMM2_000100" "g.8895729C>A" "" "" "" "PMM2(NM_000303.2):c.140C>A (p.S47*), PMM2(NM_000303.3):c.140C>A (p.(Ser47*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001041467" "0" "90" "16" "8904956" "8904956" "subst" "0.000107491" "01804" "PMM2_000015" "g.8904956G>A" "" "" "" "PMM2(NM_000303.3):c.368G>A (p.(Arg123Gln), p.R123Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001041468" "0" "90" "16" "8904973" "8904973" "subst" "0" "02327" "PMM2_000006" "g.8904973G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001041469" "0" "50" "16" "8906910" "8906910" "subst" "5.27927E-5" "01804" "PMM2_000086" "g.8906910G>A" "" "" "" "PMM2(NM_000303.2):c.586G>A (p.V196M), PMM2(NM_000303.3):c.586G>A (p.(Val196Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055427" "0" "70" "16" "8891800" "8891800" "subst" "4.49834E-6" "01804" "PMM2_000051" "g.8891800C>G" "" "" "" "PMM2(NM_000303.2):c.61C>G (p.R21G), PMM2(NM_000303.3):c.61C>G (p.(Arg21Gly), p.R21G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001055428" "0" "50" "16" "8905040" "8905040" "subst" "4.89896E-5" "01804" "PMM2_000035" "g.8905040G>A" "" "" "" "PMM2(NM_000303.3):c.447+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055429" "0" "90" "16" "8905517" "8905517" "subst" "0.000296548" "01804" "PMM2_000004" "g.8905517T>C" "" "" "" "PMM2(NM_000303.2):c.470T>C (p.F157S), PMM2(NM_000303.3):c.470T>C (p.(Phe157Ser), p.F157S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001055430" "0" "50" "16" "8906843" "8906843" "subst" "3.65485E-5" "01804" "PMM2_000116" "g.8906843G>A" "" "" "" "PMM2(NM_000303.3):c.524-5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055431" "0" "30" "16" "8906973" "8906973" "subst" "7.71655E-5" "01804" "PMM2_000117" "g.8906973G>A" "" "" "" "PMM2(NM_000303.3):c.639+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055432" "0" "50" "16" "8941639" "8941639" "subst" "1.62579E-5" "01804" "PMM2_000118" "g.8941639C>T" "" "" "" "PMM2(NM_000303.3):c.698C>T (p.(Ala233Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001059026" "0" "90" "16" "8905010" "8905010" "subst" "0.00408222" "00006" "PMM2_000001" "g.8905010G>A" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "" "0001059027" "0" "90" "16" "8895767" "8895767" "subst" "2.49931E-5" "00006" "PMM2_000041" "g.8895767G>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.8801910G>T" "" "pathogenic" "" "0001060920" "0" "90" "16" "8905010" "8905010" "subst" "0.00408222" "00006" "PMM2_000001" "g.8905010G>A" "" "{PMID:Horbacz 2025:41210864}" "" "" "ACMG PM1, PM2, PP3, PP5, PS3; 2/142 in controls" "Germline/De novo (untested)" "" "" "0" "" "" "g.8811153G>A" "" "pathogenic" "ACMG" "0001060921" "0" "90" "16" "8941651" "8941651" "subst" "0.000130114" "00006" "PMM2_000032" "g.8941651C>G" "" "{PMID:Horbacz 2025:41210864}" "" "" "ACMG PM1, PM2, PP3, PP5, PS3; 2/142 in controls" "Germline/De novo (untested)" "" "" "0" "" "" "g.8847794C>G" "" "pathogenic" "ACMG" ## 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 PMM2 ## Count = 378 "{{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}}" "0000000632" "00000029" "50" "590" "0" "590" "0" "c.590A>C" "r.(?)" "p.(Glu197Ala)" "7" "0000000633" "00000029" "50" "590" "0" "590" "0" "c.590A>C" "r.(?)" "p.(Glu197Ala)" "7" "0000000634" "00000029" "50" "590" "0" "590" "0" "c.590A>C" "r.(?)" "p.(Glu197Ala)" "7" "0000000635" "00000029" "50" "590" "0" "590" "0" "c.590A>C" "r.(?)" "p.(Glu197Ala)" "7" "0000000636" "00000029" "50" "590" "0" "590" "0" "c.590A>C" "r.(?)" "p.(Glu197Ala)" "7" "0000000637" "00000029" "50" "590" "0" "590" "0" "c.590A>C" "r.(?)" "p.(Glu197Ala)" "7" "0000000639" "00000029" "59" "430" "0" "430" "0" "c.430T>C" "r.(?)" "p.(Phe144Leu)" "5" "0000000640" "00000029" "30" "877" "0" "877" "0" "c.*136A>C" "r.(=)" "p.(=)" "8" "0000061629" "00000029" "59" "357" "0" "357" "0" "c.357C>A" "r.(?)" "p.(Phe119Leu)" "5" "0000061632" "00000029" "59" "422" "0" "422" "0" "c.422G>A" "r.(?)" "p.(Arg141His)" "5" "0000061633" "00000029" "59" "357" "0" "357" "0" "c.357C>A" "r.(?)" "p.(Phe119Leu)" "5" "0000247366" "00000029" "10" "590" "0" "590" "0" "c.590A>C" "r.(?)" "p.(Glu197Ala)" "" "0000248252" "00000029" "10" "590" "0" "590" "0" "c.590A>C" "r.(?)" "p.(Glu197Ala)" "" "0000248288" "00000029" "90" "563" "0" "563" "0" "c.563A>G" "r.(?)" "p.(Asp188Gly)" "" "0000249665" "00000029" "90" "647" "0" "647" "0" "c.647A>T" "r.(?)" "p.(Asn216Ile)" "" "0000251698" "00000029" "30" "590" "0" "590" "0" "c.590A>C" "r.(?)" "p.(Glu197Ala)" "" "0000252461" "00000029" "90" "563" "0" "563" "0" "c.563A>G" "r.(?)" "p.(Asp188Gly)" "" "0000252607" "00000029" "90" "191" "0" "191" "0" "c.191A>C" "r.(?)" "p.(Tyr64Ser)" "" "0000293972" "00000029" "10" "324" "0" "324" "0" "c.324G>A" "r.(?)" "p.(Ala108=)" "" "0000293973" "00000029" "90" "338" "0" "338" "0" "c.338C>T" "r.(?)" "p.(Pro113Leu)" "" "0000293974" "00000029" "90" "422" "0" "422" "0" "c.422G>A" "r.(?)" "p.(Arg141His)" "" "0000293975" "00000029" "30" "441" "0" "441" "0" "c.441C>T" "r.(?)" "p.(Leu147=)" "" "0000293976" "00000029" "10" "447" "19" "447" "19" "c.447+19T>C" "r.(=)" "p.(=)" "" "0000293977" "00000029" "50" "448" "-18" "448" "-18" "c.448-18T>A" "r.(=)" "p.(=)" "" "0000293978" "00000029" "30" "640" "-13" "640" "-13" "c.640-13C>T" "r.(=)" "p.(=)" "" "0000297138" "00000029" "90" "193" "0" "193" "0" "c.193G>T" "r.(?)" "p.(Asp65Tyr)" "" "0000297139" "00000029" "10" "324" "0" "324" "0" "c.324G>A" "r.(?)" "p.(Ala108=)" "" "0000297140" "00000029" "90" "357" "0" "357" "0" "c.357C>A" "r.(?)" "p.(Phe119Leu)" "" "0000297141" "00000029" "90" "368" "0" "368" "0" "c.368G>A" "r.(?)" "p.(Arg123Gln)" "" "0000297142" "00000029" "90" "395" "0" "395" "0" "c.395T>C" "r.(?)" "p.(Ile132Thr)" "" "0000297143" "00000029" "90" "422" "0" "422" "0" "c.422G>A" "r.(?)" "p.(Arg141His)" "" "0000297144" "00000029" "10" "447" "19" "447" "19" "c.447+19T>C" "r.(=)" "p.(=)" "" "0000297145" "00000029" "90" "548" "0" "548" "0" "c.548T>C" "r.(?)" "p.(Phe183Ser)" "" "0000297146" "00000029" "90" "691" "0" "691" "0" "c.691G>A" "r.(?)" "p.(Val231Met)" "" "0000298939" "00000029" "90" "357" "0" "357" "0" "c.357C>A" "r.(?)" "p.(Phe119Leu)" "" "0000298940" "00000029" "90" "422" "0" "422" "0" "c.422G>A" "r.(?)" "p.(Arg141His)" "" "0000301050" "00000029" "10" "837" "0" "837" "0" "c.*96G>C" "r.(=)" "p.(=)" "" "0000301051" "00000029" "90" "357" "0" "357" "0" "c.357C>A" "r.(?)" "p.(Phe119Leu)" "" "0000301052" "00000029" "90" "368" "0" "368" "0" "c.368G>A" "r.(?)" "p.(Arg123Gln)" "" "0000301053" "00000029" "90" "422" "0" "422" "0" "c.422G>A" "r.(?)" "p.(Arg141His)" "" "0000301054" "00000029" "10" "447" "19" "447" "19" "c.447+19T>C" "r.(=)" "p.(=)" "" "0000301055" "00000029" "90" "559" "0" "559" "0" "c.559T>C" "r.(?)" "p.(Trp187Arg)" "" "0000301056" "00000029" "90" "61" "0" "61" "0" "c.61C>G" "r.(?)" "p.(Arg21Gly)" "" "0000301057" "00000029" "70" "710" "0" "710" "0" "c.710C>G" "r.(?)" "p.(Thr237Arg)" "" "0000305973" "00000029" "90" "422" "0" "422" "0" "c.422G>A" "r.(?)" "p.(Arg141His)" "" "0000324584" "00000029" "50" "663" "0" "663" "0" "c.663C>A" "r.(?)" "p.(Phe221Leu)" "" "0000338852" "00000029" "10" "447" "19" "447" "19" "c.447+19T>C" "r.(=)" "p.(=)" "" "0000338855" "00000029" "10" "993" "0" "993" "0" "c.*252C>A" "r.(=)" "p.(=)" "" "0000341805" "00000029" "90" "368" "0" "368" "0" "c.368G>A" "r.(?)" "p.(Arg123Gln)" "" "0000341912" "00000029" "90" "422" "0" "422" "0" "c.422G>A" "r.(?)" "p.(Arg141His)" "" "0000344327" "00000029" "90" "722" "0" "722" "0" "c.722G>C" "r.(?)" "p.(Cys241Ser)" "" "0000345249" "00000029" "50" "657" "0" "657" "0" "c.657G>C" "r.(?)" "p.(Glu219Asp)" "" "0000347963" "00000029" "90" "470" "0" "470" "0" "c.470T>C" "r.(?)" "p.(Phe157Ser)" "" "0000471107" "00000029" "99" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.M1V" "1" "0000471108" "00000029" "99" "24" "0" "24" "0" "c.24del" "r.(?)" "p.(Cys9Alafs*27)" "1" "0000471109" "00000029" "99" "24" "0" "24" "0" "c.24del" "r.(?)" "p.(Cys9Alafs*27)" "1" "0000471110" "00000029" "99" "26" "0" "26" "0" "c.26G>A" "r.(?)" "p.(Cys9Tyr)" "1" "0000471111" "00000029" "99" "44" "0" "44" "0" "c.44G>A" "r.(?)" "p.(Gly15Glu)" "1" "0000471112" "00000029" "99" "44" "0" "44" "0" "c.44G>A" "r.(?)" "p.(Gly15Glu)" "1" "0000471113" "00000029" "99" "53" "0" "53" "0" "c.53C>G" "r.(?)" "p.(Thr18Ser)" "1" "0000471114" "00000029" "99" "64" "0" "64" "0" "c.64C>T" "r.(?)" "p.(Gln22*)" "1" "0000471115" "00000029" "99" "95" "0" "96" "0" "c.95_96delinsGC" "r.(?)" "p.(Leu32Arg)" "2" "0000471116" "00000029" "99" "95" "0" "96" "0" "c.95_96delinsGC" "r.(?)" "p.(Leu32Arg)" "2" "0000471117" "00000029" "99" "95" "0" "96" "0" "c.95_96delinsGC" "r.(?)" "p.(Leu32Arg)" "2" "0000471118" "00000029" "99" "95" "0" "96" "0" "c.95_96delinsGC" "r.(?)" "p.(Leu32Arg)" "2" "0000471119" "00000029" "99" "95" "0" "96" "0" "c.95_96delinsGC" "r.(?)" "p.(Leu32Arg)" "2" "0000471120" "00000029" "99" "124" "0" "124" "0" "c.124G>A" "r.(?)" "p.(Gly42Arg)" "2" "0000471121" "00000029" "99" "124" "0" "124" "0" "c.124G>A" "r.(?)" "p.(Gly42Arg)" "2" "0000471122" "00000029" "99" "178" "0" "178" "0" "c.178G>T" "r.(?)" "p.(Val60Leu)" "2" "0000471123" "00000029" "99" "193" "0" "193" "0" "c.193G>T" "r.(?)" "p.(Asp65Tyr)" "3" "0000471124" "00000029" "99" "193" "0" "193" "0" "c.193G>T" "r.(?)" "p.(Asp65Tyr)" "3" "0000471125" "00000029" "99" "205" "0" "205" "0" "c.205C>T" "r.(?)" "p.(Pro69Ser)" "3" "0000471126" "00000029" "99" "205" "0" "205" "0" "c.205C>T" "r.(?)" "p.(Pro69Ser)" "3" "0000471127" "00000029" "99" "205" "0" "205" "0" "c.205C>T" "r.(?)" "p.(Pro69Ser)" "3" "0000471128" "00000029" "99" "255" "2" "255" "2" "c.255+2T>C" "r.(=)" "p.(=)" "3i" "0000471129" "00000029" "99" "278" "0" "278" "0" "c.278A>C" "r.(?)" "p.(Glu93Ala)" "4" "0000471130" "00000029" "99" "310" "0" "310" "0" "c.310C>G" "r.(?)" "p.(Leu104Val)" "4" "0000471131" "00000029" "99" "323" "0" "323" "0" "c.323C>T" "r.(?)" "p.(Ala108Val)" "4" "0000471132" "00000029" "99" "323" "0" "323" "0" "c.323C>T" "r.(?)" "p.(Ala108Val)" "4" "0000471133" "00000029" "99" "338" "0" "338" "0" "c.338C>T" "r.(?)" "p.(Pro113Leu)" "4" "0000471134" "00000029" "99" "338" "0" "338" "0" "c.338C>T" "r.(?)" "p.(Pro113Leu)" "4" "0000471135" "00000029" "99" "338" "0" "338" "0" "c.338C>T" "r.(?)" "p.(Pro113Leu)" "4" "0000471136" "00000029" "99" "338" "0" "338" "0" "c.338C>T" "r.(?)" "p.(Pro113Leu)" "4" "0000471137" "00000029" "99" "338" "0" "338" "0" "c.338C>T" "r.(?)" "p.(Pro113Leu)" "4" "0000471138" "00000029" "99" "338" "0" "338" "0" "c.338C>T" "r.(?)" "p.(Pro113Leu)" "4" "0000471139" "00000029" "99" "338" "0" "338" "0" "c.338C>T" "r.(?)" "p.(Pro113Leu)" "4" "0000471140" "00000029" "99" "338" "0" "338" "0" "c.338C>T" "r.(?)" "p.(Pro113Leu)" "4" "0000471141" "00000029" "99" "338" "0" "338" "0" "c.338C>T" "r.(?)" "p.(Pro113Leu)" "4" "0000471142" "00000029" "99" "357" "0" "357" "0" "c.357C>A" "r.(?)" "p.(Phe119Leu)" "5" "0000471143" "00000029" "99" "357" "0" "357" "0" "c.357C>A" "r.(?)" "p.(Phe119Leu)" "5" "0000471144" "00000029" "99" "357" "0" "357" "0" "c.357C>A" "r.(?)" "p.(Phe119Leu)" "5" "0000471145" "00000029" "99" "357" "0" "357" "0" "c.357C>A" "r.(?)" "p.(Phe119Leu)" "5" "0000471146" "00000029" "99" "357" "0" "357" "0" "c.357C>A" "r.(?)" "p.(Phe119Leu)" "5" "0000471147" "00000029" "99" "357" "0" "357" "0" "c.357C>A" "r.(?)" "p.(Phe119Leu)" "5" "0000471148" "00000029" "99" "357" "0" "357" "0" "c.357C>A" "r.(?)" "p.(Phe119Leu)" "5" "0000471149" "00000029" "99" "357" "0" "357" "0" "c.357C>A" "r.(?)" "p.(Phe119Leu)" "5" "0000471150" "00000029" "99" "357" "0" "357" "0" "c.357C>A" "r.(?)" "p.(Phe119Leu)" "5" "0000471151" "00000029" "99" "357" "0" "357" "0" "c.357C>A" "r.(?)" "p.(Phe119Leu)" "5" "0000471152" "00000029" "99" "357" "0" "357" "0" "c.357C>A" "r.(?)" "p.(Phe119Leu)" "5" "0000471153" "00000029" "99" "357" "0" "357" "0" "c.357C>A" "r.(?)" "p.(Phe119Leu)" "5" "0000471154" "00000029" "99" "357" "0" "357" "0" "c.357C>A" "r.(?)" "p.(Phe119Leu)" "5" "0000471155" "00000029" "99" "357" "0" "357" "0" "c.357C>A" "r.(?)" "p.(Phe119Leu)" "5" "0000471156" "00000029" "99" "357" "0" "357" "0" "c.357C>A" "r.(?)" "p.(Phe119Leu)" "5" "0000471157" "00000029" "99" "357" "0" "357" "0" "c.357C>A" "r.(?)" "p.(Phe119Leu)" "5" "0000471158" "00000029" "99" "357" "0" "357" "0" "c.357C>A" "r.(?)" 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"p.(Cys241Ser)" "8" "0000471324" "00000029" "99" "722" "0" "722" "0" "c.722G>C" "r.(?)" "p.(Cys241Ser)" "8" "0000471325" "00000029" "99" "722" "0" "722" "0" "c.722G>C" "r.(?)" "p.(Cys241Ser)" "8" "0000471326" "00000029" "99" "722" "0" "722" "0" "c.722G>C" "r.(?)" "p.(Cys241Ser)" "8" "0000471327" "00000029" "99" "722" "0" "722" "0" "c.722G>C" "r.(?)" "p.(Cys241Ser)" "8" "0000471328" "00000029" "99" "722" "0" "722" "0" "c.722G>C" "r.(?)" "p.(Cys241Ser)" "8" "0000471329" "00000029" "99" "722" "0" "722" "0" "c.722G>C" "r.(?)" "p.(Cys241Ser)" "8" "0000471330" "00000029" "99" "722" "0" "722" "0" "c.722G>C" "r.(?)" "p.(Cys241Ser)" "8" "0000471331" "00000029" "99" "722" "0" "722" "0" "c.722G>C" "r.(?)" "p.(Cys241Ser)" "8" "0000471332" "00000029" "95" "722" "0" "722" "0" "c.722G>C" "r.(?)" "p.(Cys241Ser)" "8" "0000559743" "00000029" "90" "61" "0" "61" "0" "c.61C>G" "r.(?)" "p.(Arg21Gly)" "" "0000559752" "00000029" "50" "67" "-6" "67" "-6" "c.67-6A>G" "r.(=)" "p.(=)" "" "0000559753" "00000029" "30" "90" "0" "90" "0" "c.90C>G" "r.(?)" "p.(Asp30Glu)" "" "0000559754" "00000029" "50" "124" "0" "124" "0" "c.124G>A" "r.(?)" "p.(Gly42Arg)" "" "0000559756" "00000029" "90" "160" "0" "160" "0" "c.160dup" "r.(?)" "p.(Glu54GlyfsTer6)" "" "0000559757" "00000029" "10" "179" "-15" "179" "-15" "c.179-15dup" "r.(=)" "p.(=)" "" "0000559758" "00000029" "90" "205" "0" "205" "0" "c.205C>T" "r.(?)" "p.(Pro69Ser)" "" "0000559759" "00000029" "50" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Cys83Tyr)" "" "0000559761" "00000029" "90" "338" "0" "338" "0" "c.338C>T" "r.(?)" "p.(Pro113Leu)" "" "0000559762" "00000029" "90" "357" "0" "357" "0" "c.357C>A" "r.(?)" "p.(Phe119Leu)" "" "0000559763" "00000029" "90" "422" "0" "422" "0" "c.422G>A" "r.(?)" "p.(Arg141His)" "" "0000559764" "00000029" "90" "442" "0" "442" "0" "c.442G>A" "r.(?)" "p.(Asp148Asn)" "" "0000559765" "00000029" "90" "484" "0" "484" "0" "c.484C>T" "r.(?)" "p.(Arg162Trp)" "" "0000559766" "00000029" "70" "527" "0" "527" "0" "c.527G>T" "r.(?)" "p.(Gly176Val)" "" "0000559767" "00000029" "70" "580" "0" "580" "0" "c.580C>T" "r.(?)" "p.(Arg194Ter)" "" "0000559768" "00000029" "50" "586" "0" "586" "0" "c.586G>A" "r.(?)" "p.(Val196Met)" "" "0000559770" "00000029" "50" "602" "0" "602" "0" "c.602A>G" "r.(?)" "p.(Tyr201Cys)" "" "0000559916" "00000029" "50" "640" "0" "640" "0" "c.640G>A" "r.(?)" "p.(Gly214Ser)" "" "0000559917" "00000029" "90" "691" "0" "691" "0" "c.691G>A" "r.(?)" "p.(Val231Met)" "" "0000559918" "00000029" "90" "710" "0" "710" "0" "c.710C>G" "r.(?)" "p.(Thr237Arg)" "" "0000559919" "00000029" "50" "713" "0" "713" "0" "c.713G>A" "r.(?)" "p.(Arg238His)" "" "0000559920" "00000029" "50" "713" "0" "713" "0" "c.713G>A" "r.(?)" "p.(Arg238His)" "" "0000559921" "00000029" "50" "713" "0" "713" "0" "c.713G>A" "r.(?)" "p.(Arg238His)" "" "0000559922" "00000029" "90" "722" "0" "722" "0" "c.722G>C" "r.(?)" "p.(Cys241Ser)" "" "0000616243" "00000029" "90" "255" "2" "255" "2" "c.255+2T>C" "r.spl?" "p.?" "" "0000616244" "00000029" "90" "357" "0" "357" "0" "c.357C>A" "r.(?)" "p.(Phe119Leu)" "" "0000616245" "00000029" "70" "359" "0" "359" "0" "c.359T>C" "r.(?)" "p.(Ile120Thr)" "" "0000616246" "00000029" "70" "458" "0" "462" "0" "c.458_462del" "r.(?)" "p.(Ile153ThrfsTer27)" "" "0000616247" "00000029" "30" "524" "-16" "524" "-16" "c.524-16C>T" "r.(=)" "p.(=)" "" "0000616248" "00000029" "30" "639" "19" "639" "19" "c.639+19G>C" "r.(=)" "p.(=)" "" "0000616285" "00000029" "50" "671" "0" "671" "0" "c.671C>G" "r.(?)" "p.(Pro224Arg)" "" "0000623582" "00000029" "30" "711" "0" "711" "0" "c.711G>A" "r.(?)" "p.(Thr237=)" "" "0000649441" "00000029" "90" "95" "0" "95" "0" "c.95T>G" "r.(?)" "p.(Leu32Arg)" "" "0000649442" "00000029" "50" "324" "0" "324" "0" "c.324G>A" "r.(=)" "p.(=)" "" "0000649443" "00000029" "90" "422" "0" "422" "0" "c.422G>A" "r.(?)" "p.(Arg141His)" "" "0000649451" "00000029" "50" "2101" "0" "2101" "0" "c.*1360C>T" "r.(=)" "p.(=)" "" "0000657987" "00000029" "70" "556" "0" "556" "0" "c.556G>A" "r.(?)" "p.(Gly186Arg)" "" "0000669364" "00000029" "50" "324" "0" "324" "0" "c.324G>A" "r.(=)" "p.(=)" "" "0000680748" "00000029" "50" "657" "0" "657" "0" "c.657G>C" "r.(?)" "p.(Glu219Asp)" "" "0000692202" "00000029" "30" "93" "0" "93" "0" "c.93C>T" "r.(?)" "p.(Phe31=)" "" "0000692203" "00000029" "30" "366" "0" "366" "0" "c.366C>T" "r.(?)" "p.(Phe122=)" "" "0000692215" "00000029" "30" "640" "-13" "640" "-13" "c.640-13C>T" "r.(=)" "p.(=)" "" "0000692216" "00000029" "50" "713" "0" "713" "0" "c.713G>A" "r.(?)" "p.(Arg238His)" "" "0000726045" "00000029" "30" "66" "5" "66" "5" "c.66+5G>A" "r.spl?" "p.?" "" "0000726046" "00000029" "50" "128" "0" "128" "0" "c.128T>C" "r.(?)" "p.(Val43Ala)" "" "0000726047" "00000029" "90" "140" "0" "140" "0" "c.140C>A" "r.(?)" "p.(Ser47*)" "" "0000726048" "00000029" "70" "169" "0" "169" "0" "c.169G>C" "r.(?)" "p.(Gly57Arg)" "" "0000726049" "00000029" "90" "193" "0" "193" "0" "c.193G>T" "r.(?)" "p.(Asp65Tyr)" "" "0000726050" "00000029" "90" "255" "2" "255" "2" "c.255+2T>C" "r.spl?" "p.?" "" "0000726051" "00000029" "30" "447" "4" "447" "4" "c.447+4C>T" "r.spl?" "p.?" "" "0000726052" "00000029" "90" "470" "0" "470" "0" "c.470T>C" "r.(?)" "p.(Phe157Ser)" "" "0000807702" "00000029" "50" "368" "0" "368" "0" "c.368G>T" "r.(?)" "p.(Arg123Leu)" "" "0000807703" "00000029" "30" "435" "0" "435" "0" "c.435C>T" "r.(?)" "p.(Tyr145=)" "" "0000807704" "00000029" "90" "470" "0" "470" "0" "c.470T>C" "r.(?)" "p.(Phe157Ser)" "" "0000854707" "00000029" "30" "178" "7" "178" "7" "c.178+7G>A" "r.(=)" "p.(=)" "" "0000854708" "00000029" "70" "323" "0" "323" "0" "c.323C>T" "r.(?)" "p.(Ala108Val)" "" "0000854709" "00000029" "50" "338" "0" "338" "0" "c.338C>T" "r.(?)" "p.(Pro113Leu)" "" "0000854710" "00000029" "50" "447" "5" "447" "5" "c.447+5G>A" "r.spl?" "p.?" "" "0000865003" "00000029" "50" "256" "-1" "256" "-1" "c.256-1G>C" "r.spl?" "p.?" "" "0000865024" "00000029" "50" "657" "0" "657" "0" "c.657G>C" "r.(?)" "p.(Glu219Asp)" "" "0000868533" "00000029" "70" "194" "0" "194" "0" "c.194A>G" "r.(?)" "p.(Asp65Gly)" "" "0000868534" "00000029" "70" "470" "0" "470" "0" "c.470T>C" "r.(?)" "p.(Phe157Ser)" "" "0000868535" "00000029" "70" "473" "0" "473" "0" "c.473T>C" "r.(?)" "p.(Val158Ala)" "" "0000868536" "00000029" "70" "190" "0" "190" "0" "c.190del" "r.(?)" "p.(Tyr64Thrfs*11)" "" "0000868539" "00000029" "70" "646" "0" "646" "0" "c.646A>G" "r.(?)" "p.(Asn216Asp)" "" "0000868540" "00000029" "90" "422" "0" "422" "0" "c.422G>A" "r.(?)" "p.(Arg141His)" "" "0000868541" "00000029" "70" "710" "0" "710" "0" "c.710C>A" "r.(?)" "p.(Thr237Lys)" "" "0000868542" "00000029" "70" "338" "0" "338" "0" "c.338C>T" "r.(?)" "p.(Pro113Leu)" "" "0000873918" "00000029" "10" "422" "0" "422" "0" "c.422G>A" "r.(?)" "p.(Arg141His)" "" "0000893228" "00000029" "30" "110" "0" "110" "0" "c.110A>T" "r.(?)" "p.(Gln37Leu)" "" "0000893229" "00000029" "90" "152" "0" "152" "0" "c.152A>G" "r.(?)" "p.(Lys51Arg)" "" "0000893230" "00000029" "10" "324" "0" "324" "0" "c.324G>A" "r.(?)" "p.(Ala108=)" "" "0000914712" "00000029" "70" "53" "0" "53" "0" "c.53C>G" "r.(?)" "p.(Thr18Ser)" "" "0000914713" "00000029" "70" "61" "0" "61" "0" "c.61C>G" "r.(?)" "p.(Arg21Gly)" "" "0000914714" "00000029" "90" "442" "0" "442" "0" "c.442G>A" "r.(?)" "p.(Asp148Asn)" "" "0000926369" "00000029" "50" "249" "0" "249" "0" "c.249T>C" "r.(?)" "p.(Cys83=)" "" "0000926378" "00000029" "30" "712" "0" "712" "0" "c.712C>T" "r.(?)" "p.(Arg238Cys)" "" "0000930670" "00000029" "90" "256" "-1" "256" "-1" "c.256-1G>C" "r.spl?" "p.?" "" "0000930679" "00000029" "90" "710" "0" "710" "0" "c.710C>T" "r.(?)" "p.(Thr237Met)" "" "0000950765" "00000029" "30" "90" "0" "90" "0" "c.90C>G" "r.(?)" "p.(Asp30Glu)" "" "0000950766" "00000029" "90" "484" "0" "484" "0" "c.484C>T" "r.(?)" "p.(Arg162Trp)" "" "0000982196" "00000029" "90" "160" "0" "160" "0" "c.160dup" "r.(?)" "p.(Glu54GlyfsTer6)" "" "0000982197" "00000029" "90" "452" "0" "452" "0" "c.452A>G" "r.(?)" "p.(Glu151Gly)" "" "0000982219" "00000029" "90" "691" "0" "691" "0" "c.691G>A" "r.(?)" "p.(Val231Met)" "" "0001002734" "00000029" "90" "357" "0" "357" "0" "c.357C>A" "r.(?)" "p.(Phe119Leu)" "" "0001041466" "00000029" "90" "140" "0" "140" "0" "c.140C>A" "r.(?)" "p.(Ser47*)" "" "0001041467" "00000029" "90" "368" "0" "368" "0" "c.368G>A" "r.(?)" "p.(Arg123Gln)" "" "0001041468" "00000029" "90" "385" "0" "385" "0" "c.385G>A" "r.(?)" "p.(Val129Met)" "" "0001041469" "00000029" "50" "586" "0" "586" "0" "c.586G>A" "r.(?)" "p.(Val196Met)" "" "0001055427" "00000029" "70" "61" "0" "61" "0" "c.61C>G" "r.(?)" "p.(Arg21Gly)" "" "0001055428" "00000029" "50" "447" "5" "447" "5" "c.447+5G>A" "r.spl?" "p.?" "" "0001055429" "00000029" "90" "470" "0" "470" "0" "c.470T>C" "r.(?)" "p.(Phe157Ser)" "" "0001055430" "00000029" "50" "524" "-5" "524" "-5" "c.524-5G>A" "r.spl?" "p.?" "" "0001055431" "00000029" "30" "639" "10" "639" "10" "c.639+10G>A" "r.(=)" "p.(=)" "" "0001055432" "00000029" "50" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Ala233Val)" "" "0001059026" "00000029" "90" "422" "0" "422" "0" "c.422G>A" "r.(?)" "p.(Arg141His)" "" "0001059027" "00000029" "90" "178" "0" "178" "0" "c.178G>T" "r.(?)" "p.(Val60Leu)" "" "0001060920" "00000029" "90" "422" "0" "422" "0" "c.422G>A" "r.(?)" "p.(Arg141His)" "" "0001060921" "00000029" "90" "710" "0" "710" "0" "c.710C>G" "r.(?)" "p.(Thr237Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 255 "{{screeningid}}" "{{variantid}}" "0000000029" "0000000640" "0000000058" "0000000632" "0000000064" "0000000633" "0000000066" "0000000639" "0000000069" "0000000634" "0000000072" "0000000636" "0000000076" "0000000637" "0000000078" "0000000635" "0000034538" "0000061629" "0000034541" "0000061632" "0000034541" "0000061633" "0000229872" "0000471257" "0000229873" "0000471272" "0000229874" "0000471107" "0000229874" "0000471175" "0000229875" "0000471108" "0000229875" "0000471296" "0000229876" "0000471109" "0000229876" "0000471322" "0000229877" "0000471110" "0000229877" "0000471178" "0000229878" "0000471111" "0000229878" "0000471198" "0000229879" "0000471112" "0000229879" "0000471291" "0000229880" "0000471113" "0000229880" "0000471245" "0000229881" "0000471114" "0000229881" "0000471289" "0000229882" "0000471115" "0000229882" "0000471171" "0000229883" "0000471116" "0000229883" "0000471165" "0000229884" "0000471117" "0000229884" "0000471238" "0000229885" "0000471118" "0000229885" "0000471239" "0000229886" "0000471119" "0000229886" "0000471254" "0000229887" "0000471120" "0000229887" "0000471284" "0000229888" "0000471121" "0000229888" "0000471285" "0000229889" "0000471122" "0000229889" "0000471251" "0000229890" "0000471123" "0000229890" "0000471200" "0000229891" "0000471124" "0000229891" "0000471202" "0000229892" "0000471125" "0000229892" "0000471222" "0000229893" "0000471126" "0000229893" "0000471240" "0000229894" "0000471127" "0000229894" "0000471256" "0000229895" "0000471128" "0000229895" "0000471316" "0000229896" "0000471129" "0000229896" "0000471182" "0000229897" "0000471130" "0000229897" "0000471265" "0000229898" "0000471131" "0000229898" "0000471271" "0000229899" "0000471132" "0000229899" "0000471264" "0000229900" "0000471133" "0000229900" "0000471194" "0000229901" "0000471134" "0000229901" "0000471209" "0000229902" "0000471135" "0000229902" "0000471214" "0000229903" 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