### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ASH1L) # 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}}" "ASH1L" "ash1 (absent, small, or homeotic)-like (Drosophila)" "1" "q22" "unknown" "NC_000001.10" "UD_132319179019" "" "https://www.LOVD.nl/ASH1L" "Care4ASH1L patient organisation " "1" "19088" "55870" "607999" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/ASH1L_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-02-25 14:20:20" "00006" "2026-02-06 11:54:28" ## 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}}" "00002975" "ASH1L" "ash1 (absent, small, or homeotic)-like (Drosophila)" "001" "NM_018489.2" "" "NP_060959.2" "" "" "" "-480" "11294" "8895" "155532324" "155305052" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "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" "00212" "SCZD" "schizophrenia (SCZD)" "AD" "181500" "" "" "" "00006" "2013-09-24 21:08:12" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05813" "MRD52" "mental retardation, autosomal dominant, type 52 (MRD52)" "AD" "617796" "" "" "" "00006" "2020-08-17 20:47:15" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ASH1L" "00139" "ASH1L" "05813" ## Individuals ## Do not remove or alter this header ## ## Count = 80 "{{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}}" "00183065" "" "" "" "1" "" "00006" "{PMID:de Ligt 2012:23033978}" "" "M" "" "Netherlands" "" "0" "" "" "" "23033978-Trio66" "00307671" "" "" "" "1" "" "00006" "{PMID:Wang 2016:27824329}" "" "M" "" "China" "" "0" "" "" "" "M20837" "00307672" "" "" "" "1" "" "00006" "{PMID:Stessman 2017:28191889}" "" "F" "" "Sweden" "" "0" "" "" "" "Pat1" "00307680" "" "" "" "1" "" "00006" "{PMID:Stessman 2017:28191889}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Sweden" "" "0" "" "" "" "Pat3" "00307681" "" "" "" "1" "" "00006" "{PMID:Stessman 2017:28191889}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Sweden" "" "0" "" "" "" "Pat4" "00307682" "" "" "" "1" "" "00006" "{PMID:Stessman 2017:28191889}, {PMID:Krumm 2015:25961944}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Sweden" "" "0" "" "" "" "Pat5" "00307683" "" "" "" "1" "" "00006" "{PMID:Okamoto 2017:28394464}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Japan" "" "0" "" "" "" "patient" "00307701" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5411302" "00311426" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "F" "" "" "" "0" "" "" "" "Pat5" "00311427" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "M" "" "" "" "0" "" "" "" "Pat6" "00311428" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "M" "" "" "" "0" "" "" "" "Pat7/DECIPHER277820" "00311903" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00311904" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00311905" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00311906" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00311907" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00311908" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00312089" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER255240" "00312090" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER298835" "00312091" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER249031" "00312092" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER276515" "00319931" "" "" "" "1" "" "00006" "{PMID:Xi 2020:32518592}" "4-generation family, 3 affected (father/daugther/fetus); mother" "F" "no" "China" "" "0" "" "" "" "FamPatIII1" "00319932" "" "" "" "1" "" "00006" "{PMID:Shen 2019:29753921}" "" "M" "" "United States" "" "0" "" "" "white" "patient" "00319934" "" "" "" "1" "" "00006" "{PMID:Homsy 2015:26785492}" "" "" "" "" "" "0" "" "" "" "PCGC 1-02749" "00403991" "" "" "" "2" "" "00006" "{PMID:Liu 2021:34373061}" "2-generation family, affected twin sisters, unaffected non-carrier parents" "F" "" "China" "" "0" "" "" "" "family" "00403993" "" "" "" "1" "" "00006" "{PMID:Guo 2018:30564305}" "" "" "" "" "" "0" "" "" "" "" "00403994" "" "" "" "1" "" "00006" "{PMID:Guo 2018:30564305}" "" "" "" "" "" "0" "" "" "" "" "00403995" "" "" "" "1" "" "00006" "{PMID:Wang 2016:27824329}" "" "" "" "China" "" "0" "" "" "" "" "00403996" "" "" "" "1" "" "00006" "{PMID:Guo 2018:30564305}" "" "" "" "" "" "0" "" "" "" "" "00403997" "" "" "" "1" "" "00006" "{PMID:Fromer 2014:24463507}" "" "" "" "" "" "0" "" "" "" "" "00403998" "" "" "" "1" "" "00006" "{PMID:Guo 2018:30564305}" "" "" "" "" "" "0" "" "" "" "" "00403999" "" "" "" "1" "" "00006" "{PMID:Guo 2018:30564305}" "" "" "" "" "" "0" "" "" "" "" "00404000" "" "" "" "1" "" "00006" "{PMID:Guo 2018:30564305}" "" "" "" "" "" "0" "" "" "" "" "00404001" "" "" "" "1" "" "00006" "{PMID:Guo 2018:30564305}" "" "" "" "" "" "0" "" "" "" "" "00404002" "" "" "" "1" "" "00006" "{PMID:Yuen 2017:28263302}" "" "" "" "" "" "0" "" "" "" "" "00404003" "" "" "" "1" "" "00006" "{PMID:Guo 2018:30564305}" "" "" "" "" "" "0" "" "" "" "" "00404004" "" "" "" "1" "" "00006" "{PMID:Guo 2018:30564305}" "" "" "" "" "" "0" "" "" "" "" "00404005" "" "" "" "1" "" "00006" "{PMID:Guo 2018:30564305}" "" "" "" "" "" "0" "" "" "" "" "00404006" "" "" "" "1" "" "00006" "{PMID:Guo 2018:30564305}" "" "" "" "" "" "0" "" "" "" "" "00404007" "" "" "" "1" "" "00006" "{PMID:Guo 2018:30564305}" "" "" "" "" "" "0" "" "" "" "" "00404008" "" "" "" "1" "" "00006" "{PMID:Guo 2018:30564305}" "" "" "" "" "" "0" "" "" "" "" "00404009" "" "" "" "1" "" "00006" "{PMID:Guo 2018:30564305}" "" "" "" "" "" "0" "" "" "" "" "00404010" "" "" "" "1" "" "00006" "{PMID:Guo 2018:30564305}" "" "" "" "" "" "0" "" "" "" "" "00404011" "" "" "" "1" "" "00006" "{PMID:Guo 2018:30564305}" "" "" "" "" "" "0" "" "" "" "" "00404012" "" "" "" "1" "" "00006" "{PMID:Carraro 2019:31144778}" "" "" "" "" "" "0" "" "" "" "" "00404013" "" "" "" "1" "" "00006" "{PMID:Aspromonte 2019:31209962}" "" "" "" "" "" "0" "" "" "" "" "00404014" "" "" "" "1" "" "00006" "{PMID:Guo 2018:30564305}" "" "" "" "" "" "0" "" "" "" "" "00404015" "" "" "" "1" "" "00006" "{PMID:Guo 2018:30564305}" "" "" "" "" "" "0" "" "" "" "" "00404016" "" "" "" "1" "" "00006" "{PMID:Wang 2016:27824329}" "" "" "" "China" "" "0" "" "" "" "" "00404017" "" "" "" "1" "" "00006" "{PMID:Kosmicki 2017:28191890}" "" "" "" "" "" "0" "" "" "" "" "00404018" "" "" "" "1" "" "00006" "{PMID:De Rubeis 2014:25363760}" "" "" "" "" "" "0" "" "" "" "" "00404019" "" "" "" "1" "" "00006" "{PMID:Kosmicki 2017:28191890}" "" "" "" "" "" "0" "" "" "" "" "00404020" "" "" "" "1" "" "00006" "{PMID:Guo 2018:30564305}" "" "" "" "" "" "0" "" "" "" "" "00404021" "" "" "" "1" "" "00006" "{PMID:Guo 2018:30564305}" "" "" "" "" "" "0" "" "" "" "" "00404022" "" "" "" "1" "" "00006" "{PMID:Guo 2018:30564305}" "" "" "" "" "" "0" "" "" "" "" "00404023" "" "" "" "1" "" "00006" "{PMID:Guo 2018:30564305}" "" "" "" "" "" "0" "" "" "" "" "00404024" "" "" "" "1" "" "00006" "{PMID:Guo 2018:30564305}" "" "" "" "" "" "0" "" "" "" "" "00404025" "" "" "" "1" "" "00006" "{PMID:Jansen 2018:29209020}" "" "" "" "" "" "0" "" "" "" "" "00404026" "" "" "" "1" "" "00006" "{PMID:Guo 2018:30564305}" "" "" "" "" "" "0" "" "" "" "" "00404027" "" "" "" "1" "" "00006" "{PMID:Guo 2018:30564305}" "" "" "" "" "" "0" "" "" "" "" "00404028" "" "" "" "1" "" "00006" "{PMID:Wang 2016:27824329}" "" "" "" "China" "" "0" "" "" "" "" "00404029" "" "" "" "1" "" "00006" "{PMID:Guo 2018:30564305}" "" "" "" "" "" "0" "" "" "" "" "00404030" "" "" "" "1" "" "00006" "{PMID:Guo 2018:30564305}" "" "" "" "" "" "0" "" "" "" "" "00404031" "" "" "" "1" "" "00006" "{PMID:Jansen 2018:29209020}" "" "" "" "" "" "0" "" "" "" "" "00404032" "" "" "" "1" "" "00006" "{PMID:Guo 2018:30564305}" "" "" "" "" "" "0" "" "" "" "" "00404033" "" "" "" "1" "" "00006" "{PMID:Guo 2018:30564305}" "" "" "" "" "" "0" "" "" "" "" "00404034" "" "" "" "1" "" "00006" "{PMID:Kosmicki 2017:28191890}" "" "" "" "" "" "0" "" "" "" "" "00404035" "" "" "" "1" "" "00006" "{PMID:Iossifov 2014:25363768}" "" "" "" "" "" "0" "" "" "" "" "00404036" "" "" "" "1" "" "00006" "{PMID:Guo 2018:30564305}" "" "" "" "" "" "0" "" "" "" "" "00404037" "" "" "" "1" "" "00006" "{PMID:Guo 2018:30564305}" "" "" "" "" "" "0" "" "" "" "" "00404038" "" "" "" "1" "" "00006" "{PMID:Stessman 2017:28191889}" "" "" "" "" "" "0" "" "" "" "" "00404039" "" "" "" "1" "" "00006" "{PMID:Yuen 2017:28263302}" "" "" "" "" "" "0" "" "" "" "" "00404040" "" "" "" "1" "" "00006" "{PMID:Tammimies 2015:26325558}" "" "" "" "" "" "0" "" "" "" "" "00404041" "" "" "" "1" "" "00006" "{PMID:DDDS 2017:28135719}" "" "" "" "" "" "0" "" "" "" "" "00404042" "" "" "" "1" "" "00006" "{PMID:Kosmicki 2017:28191890}" "" "" "" "" "" "0" "" "" "" "" "00404043" "" "" "" "1" "" "00006" "{PMID:Guo 2018:30564305}" "" "" "" "" "" "0" "" "" "" "" "00404044" "" "" "" "1" "" "00006" "{PMID:Guo 2018:30564305}" "" "" "" "" "" "0" "" "" "" "" "00404045" "" "" "" "1" "" "00006" "{PMID:Guo 2018:30564305}" "" "" "" "" "" "0" "" "" "" "" "00404046" "" "" "" "1" "" "00006" "{PMID:Yuen 2017:28263302}" "" "" "" "" "" "0" "" "" "" "" "00449878" "" "" "" "1" "" "04653" "" "" "M" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 80 "{{individualid}}" "{{diseaseid}}" "00183065" "00139" "00307671" "00139" "00307672" "00139" "00307680" "00139" "00307681" "00139" "00307682" "00139" "00307683" "00139" "00307701" "00139" "00311426" "05611" "00311427" "05611" "00311428" "05611" "00311903" "00198" "00311904" "00198" "00311905" "00198" "00311906" "00198" "00311907" "00198" "00311908" "00198" "00312089" "00198" "00312090" "00198" "00312091" "00198" "00312092" "00198" "00319931" "00139" "00319932" "00139" "00319934" "00198" "00403991" "00139" "00403993" "00138" "00403994" "00138" "00403995" "00138" "00403996" "00138" "00403997" "00212" "00403998" "00138" "00403999" "00138" "00404000" "00138" "00404001" "00138" "00404002" "00138" "00404003" "00138" "00404004" "00138" "00404005" "00138" "00404006" "00138" "00404007" "00138" "00404008" "00138" "00404009" "00138" "00404010" "00138" "00404011" "00138" "00404012" "00139" "00404013" "00139" "00404014" "00138" "00404015" "00138" "00404016" "00138" "00404017" "00138" "00404018" "00138" "00404019" "00139" "00404020" "00138" "00404021" "00138" "00404022" "00138" "00404023" "00138" "00404024" "00138" "00404025" "00139" "00404026" "00138" "00404027" "00138" "00404028" "00138" "00404029" "00138" "00404030" "00138" "00404031" "00139" "00404032" "00138" "00404033" "00138" "00404034" "00138" "00404035" "00138" "00404036" "00138" "00404037" "00138" "00404038" "00139" "00404039" "00138" "00404040" "00138" "00404041" "00139" "00404042" "00139" "00404043" "00138" "00404044" "00138" "00404045" "00138" "00404046" "00138" "00449878" "00212" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00138, 00139, 00198, 00212, 05611, 05813 ## Count = 73 "{{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}}" "0000143818" "00139" "00183065" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability (ID)" "" "0000233229" "00139" "00307671" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "MRD52" "intellectual disability" "" "0000233230" "00139" "00307672" "00006" "Isolated (sporadic)" "06y" "see paper; ..." "" "" "" "" "" "" "" "" "MRD52" "intellectual disability" "" "0000233239" "00139" "00307680" "00006" "Isolated (sporadic)" "17y" "see paper; ..." "" "" "" "" "" "" "" "" "MRD52" "intellectual disability" "" "0000233240" "00139" "00307681" "00006" "Isolated (sporadic)" "08y" "" "" "" "" "" "" "" "" "" "MRD52" "intellectual disability" "" "0000233241" "00139" "00307682" "00006" "Isolated (sporadic)" "13y" "see paper; ..." "" "" "" "" "" "" "" "" "MRD52" "intellectual disability" "" "0000233242" "00139" "00307683" "00006" "Isolated (sporadic)" "04y" "see paper; ..., severe intellectual disability, growth failure, microcephaly, facial dysmorphism, myelination delay, skeletal abnormalities" "" "" "" "" "" "" "" "" "MRD52" "intellectual disability" "" "0000236673" "05611" "00311426" "00006" "Isolated (sporadic)" "13y" "feeding difficulties; mild developmental delay/intellectual disability; behavioral problems; bicuspid aortic valve, ventricular septal defect, patent foramen ovale; normal stature (SD 0.2), normal weight (SD 0.82), OFC normal (SD 1.16); craniofacial dysmorphisms; hypermetropia, precocious puberty, hypermobility" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000236674" "05611" "00311427" "00006" "Isolated (sporadic)" "9y" "feeding difficulties, hydronephrosis; severe developmental delay/intellectual disability; seizures, autistic traits, hypotonia; cryptorchidism, inguinal hernia; normal stature (SD 1.6), overweight (SD 2.33), OFC normal (SD 1.36); craniofacial dysmorphisms; hypermetropia, hyperacusis, hypermobility" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000236675" "05611" "00311428" "00006" "Isolated (sporadic)" "7y" "no perinatal history; severe developmental delay/intellectual disability; behavioral problems; cryptorchidism, blocked nasolacrimal duct; normal stature (SD -0.59), normal weight (SD -0.44), microcephaly (SD 1.72); craniofacial dysmorphisms; constipation" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000237218" "00198" "00312089" "00006" "Unknown" "" "low-set ears, posteriorly rotated ears, broad nasal tip, dental malocclusion, malar flattening, narrow palate, delayed speech and language development, intellectual disability, nasal speech" "" "" "" "" "" "" "" "" "" "" "" "0000237219" "00198" "00312090" "00006" "Unknown" "" "abnormal facial shape, global developmental delay, myoclonic atonic seizures, prominent forehead" "" "" "" "" "" "" "" "" "" "" "" "0000237220" "00198" "00312091" "00006" "Unknown" "" "low-set ears, hypertelorism, long face, delayed speech and language development, intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "0000237221" "00198" "00312092" "00006" "Unknown" "" "prominent nose, thin vermilion border, underdeveloped supraorbital ridges, synophrys, delayed speech and language development, intellectual disability, abnormality lumbar spine" "" "" "" "" "" "" "" "" "" "" "" "0000242032" "00139" "00319931" "00006" "Familial, autosomal dominant" "19y" "see paper; ..., intellectual disability, behavioral problems, flat face, flat nasal bridge, short upturned nose, thin lips, small ears" "" "" "" "" "" "" "" "" "MRD52" "intellectual disability" "" "0000242033" "00139" "00319932" "00006" "Isolated (sporadic)" "09y" "see paper; ..., multiple congenital anomalies, fine motor developmental delay, learning difficulties, attention deficit hyperactivity disorder, sleep apnea, scoliosis" "" "" "" "" "" "" "" "" "MRD52" "intellectual disability" "" "0000242034" "00198" "00319934" "00006" "Isolated (sporadic)" "" "conotruncal defects,coronary branching, anomalous, right; single left coronary; truncus arteriosus type I; developmental dealy; learning disability, intellectual disability, autism" "" "" "" "" "" "" "" "" "MRD52" "" "" "0000296584" "00139" "00403991" "00006" "Isolated (sporadic)" "08y" "see paper; ..., sleep disturbances; 4y-crying through the night; seizures, intellectual disability" "" "" "" "" "" "" "" "" "MRD52" "seizures, intellectual disability" "" "0000296586" "00138" "00403993" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000296587" "00138" "00403994" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000296588" "00138" "00403995" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000296589" "00138" "00403996" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000296590" "00212" "00403997" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "schizophrenia" "" "0000296591" "00138" "00403998" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000296592" "00138" "00403999" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000296593" "00138" "00404000" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000296594" "00138" "00404001" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000296595" "00138" "00404002" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000296596" "00138" "00404003" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000296597" "00138" "00404004" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000296598" "00138" "00404005" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000296599" "00138" "00404006" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000296600" "00138" "00404007" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000296601" "00138" "00404008" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000296602" "00138" "00404009" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000296603" "00138" "00404010" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000296604" "00138" "00404011" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000296605" "00139" "00404012" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "intellectual disability, autism spectrum disorder/autistic traits" "" "0000296606" "00139" "00404013" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "intellectual disability, autism spectrum disorder/autistic traits" "" "0000296607" "00138" "00404014" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000296608" "00138" "00404015" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000296609" "00138" "00404016" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000296610" "00138" "00404017" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000296611" "00138" "00404018" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000296612" "00139" "00404019" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "intellectual disability, congenital heart disease" "" "0000296613" "00138" "00404020" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000296614" "00138" "00404021" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000296615" "00138" "00404022" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000296616" "00138" "00404023" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000296617" "00138" "00404024" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000296618" "00139" "00404025" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000296619" "00138" "00404026" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000296620" "00138" "00404027" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000296621" "00138" "00404028" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000296622" "00138" "00404029" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000296623" "00138" "00404030" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000296624" "00139" "00404031" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000296625" "00138" "00404032" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000296626" "00138" "00404033" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000296627" "00138" "00404034" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder, seizure" "" "0000296628" "00138" "00404035" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder, seizure" "" "0000296629" "00138" "00404036" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000296630" "00138" "00404037" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000296631" "00139" "00404038" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "intellectual disability, seizure" "" "0000296632" "00138" "00404039" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000296633" "00138" "00404040" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000296634" "00139" "00404041" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Intellectual disability/developmental delay(seizure)" "" "0000296635" "00139" "00404042" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "intellectual disability, autism spectrum disorder" "" "0000296636" "00138" "00404043" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000296637" "00138" "00404044" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000296638" "00138" "00404045" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000296639" "00138" "00404046" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000339026" "00212" "00449878" "04653" "Isolated (sporadic)" "" "Schizophrenia, Autism, Abnormality of the face" "" "" "" "" "" "" "" "" "Intellectual developmental disorder, autosomal dominant" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 80 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000184025" "00183065" "1" "00006" "00006" "2018-10-12 16:28:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308812" "00307671" "1" "00006" "00006" "2020-08-17 21:48:39" "" "" "MIPsm" "DNA" "" "189 gene panel" "0000308813" "00307672" "1" "00006" "00006" "2020-08-17 22:12:47" "" "" "SEQ" "DNA" "" "gene panel" "0000308820" "00307680" "1" "00006" "00006" "2020-08-18 10:55:08" "" "" "SEQ" "DNA" "" "gene panel" "0000308821" "00307681" "1" "00006" "00006" "2020-08-18 10:58:21" "" "" "SEQ" "DNA" "" "gene panel" "0000308822" "00307682" "1" "00006" "00006" "2020-08-18 11:01:06" "" "" "SEQ" "DNA" "" "gene panel" "0000308823" "00307683" "1" "00006" "00006" "2020-08-18 11:06:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308841" "00307701" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000312596" "00311426" "1" "00006" "00006" "2020-09-25 11:13:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312597" "00311427" "1" "00006" "00006" "2020-09-25 11:13:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312598" "00311428" "1" "00006" "00006" "2020-09-25 11:13:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000313075" "00311903" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313076" "00311904" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313077" "00311905" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313078" "00311906" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313079" "00311907" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313080" "00311908" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313261" "00312089" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313262" "00312090" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313263" "00312091" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313264" "00312092" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000321111" "00319931" "1" "00006" "00006" "2020-11-11 11:57:38" "00006" "2020-11-11 12:02:02" "arraySNP" "DNA" "" "CytoScan 750 K Array from Affymetrix" "0000321112" "00319932" "1" "00006" "00006" "2020-11-11 12:06:59" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000321114" "00319934" "1" "00006" "00006" "2020-11-11 13:05:26" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000405230" "00403991" "1" "00006" "00006" "2022-02-25 13:30:52" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000405232" "00403993" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405233" "00403994" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405234" "00403995" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405235" "00403996" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405236" "00403997" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405237" "00403998" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405238" "00403999" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405239" "00404000" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405240" "00404001" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405241" "00404002" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405242" "00404003" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405243" "00404004" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405244" "00404005" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405245" "00404006" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405246" "00404007" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405247" "00404008" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405248" "00404009" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405249" "00404010" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405250" "00404011" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405251" "00404012" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405252" "00404013" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405253" "00404014" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405254" "00404015" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405255" "00404016" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405256" "00404017" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405257" "00404018" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405258" "00404019" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405259" "00404020" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405260" "00404021" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405261" "00404022" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405262" "00404023" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405263" "00404024" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405264" "00404025" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405265" "00404026" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405266" "00404027" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405267" "00404028" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405268" "00404029" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405269" "00404030" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405270" "00404031" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405271" "00404032" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405272" "00404033" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405273" "00404034" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405274" "00404035" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405275" "00404036" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405276" "00404037" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405277" "00404038" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405278" "00404039" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405279" "00404040" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405280" "00404041" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405281" "00404042" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405282" "00404043" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405283" "00404044" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405284" "00404045" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405285" "00404046" "1" "00006" "00006" "2022-02-25 14:46:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451474" "00449878" "1" "04653" "04653" "2024-05-22 18:36:13" "" "" "SEQ-NG-I" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{geneid}}" "0000308812" "ASH1L" "0000308813" "ASH1L" "0000308820" "ASH1L" "0000308821" "ASH1L" "0000308822" "ASH1L" "0000308823" "ASH1L" "0000308841" "ASH1L" "0000312596" "ASH1L" "0000312597" "ASH1L" "0000312598" "ASH1L" "0000313075" "ASH1L" "0000313076" "ASH1L" "0000313077" "ASH1L" "0000313078" "ASH1L" "0000313079" "ASH1L" "0000313080" "ASH1L" "0000313261" "ASH1L" "0000313262" "ASH1L" "0000313263" "ASH1L" "0000313264" "ASH1L" "0000321111" "ASH1L" "0000321112" "ASH1L" "0000321114" "ASH1L" ## 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 = 204 "{{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}}" "0000259153" "0" "10" "1" "155408635" "155408635" "subst" "0.990088" "02325" "ASH1L_000008" "g.155408635T>C" "" "" "" "ASH1L(NM_018489.3):c.5311A>G (p.T1771A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155438844T>C" "" "benign" "" "0000263027" "0" "10" "1" "155408558" "155408558" "subst" "0.0020997" "01943" "ASH1L_000007" "g.155408558C>T" "" "" "" "ASH1L(NM_018489.3):c.5388G>A (p.K1796=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155438767C>T" "" "benign" "" "0000321040" "0" "50" "1" "155314039" "155314039" "subst" "8.12711E-6" "01804" "ASH1L_000003" "g.155314039T>G" "" "" "" "ASH1L(NM_018489.2):c.7916A>C (p.(His2639Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155344248T>G" "" "VUS" "" "0000321042" "0" "50" "1" "155327383" "155327383" "subst" "0" "01804" "ASH1L_000005" "g.155327383T>C" "" "" "" "ASH1L(NM_018489.2):c.6953A>G (p.(Lys2318Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155357592T>C" "" "VUS" "" "0000321043" "0" "70" "1" "155365317" "155365320" "del" "0" "01804" "ASH1L_000006" "g.155365317_155365320del" "" "" "" "ASH1L(NM_018489.2):c.6038_6041delAAGA (p.(Lys2013fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155395526_155395529del" "" "likely pathogenic" "" "0000321045" "0" "50" "1" "155450632" "155450632" "subst" "4.08137E-6" "01804" "ASH1L_000010" "g.155450632T>C" "" "" "" "ASH1L(NM_018489.2):c.2029A>G (p.(Ser677Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155480841T>C" "" "VUS" "" "0000341987" "0" "70" "1" "155447986" "155447986" "subst" "0" "02327" "ASH1L_000011" "g.155447986G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155478195G>A" "" "likely pathogenic" "" "0000407963" "0" "70" "1" "155450491" "155450491" "subst" "0" "00006" "ASH1L_000012" "g.155450491C>A" "" "{PMID:de Ligt 2012:23033978}" "" "NM_018489.2:c.2170G>T (Ala724Ser)" "candidate variant" "De novo" "" "" "0" "" "" "g.155480700C>A" "" "likely pathogenic" "" "0000503571" "0" "30" "1" "155300301" "155300301" "subst" "2.03596E-5" "01804" "ASH1L_000013" "g.155300301G>A" "" "" "" "RUSC1(NM_001105203.1):c.2648G>A (p.(Arg883His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155330510G>A" "" "likely benign" "" "0000503572" "0" "30" "1" "155308021" "155308021" "subst" "0.000113744" "01804" "ASH1L_000014" "g.155308021C>T" "" "" "" "ASH1L(NM_018489.2):c.8662G>A (p.(Val2888Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155338230C>T" "" "likely benign" "" "0000503573" "0" "70" "1" "155327510" "155327510" "subst" "0" "02327" "ASH1L_000015" "g.155327510G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155357719G>A" "" "likely pathogenic" "" "0000503575" "0" "30" "1" "155408507" "155408507" "subst" "0.000385884" "01943" "ASH1L_000017" "g.155408507G>A" "" "" "" "ASH1L(NM_001366177.1):c.5439C>T (p.Y1813=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155438716G>A" "" "likely benign" "" "0000503576" "0" "50" "1" "155448115" "155448115" "subst" "0" "02327" "ASH1L_000018" "g.155448115G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155478324G>A" "" "VUS" "" "0000503577" "0" "30" "1" "155449866" "155449866" "subst" "4.07063E-6" "01804" "ASH1L_000019" "g.155449866C>T" "" "" "" "ASH1L(NM_018489.2):c.2795G>A (p.(Ser932Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155480075C>T" "" "likely benign" "" "0000503578" "0" "50" "1" "155450071" "155450073" "del" "0" "01804" "ASH1L_000020" "g.155450071_155450073del" "" "" "" "ASH1L(NM_018489.2):c.2590_2592del (p.(Glu864del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155480280_155480282del" "" "VUS" "" "0000503579" "0" "30" "1" "155450111" "155450111" "subst" "0" "01943" "ASH1L_000021" "g.155450111A>C" "" "" "" "ASH1L(NM_018489.3):c.2550T>G (p.P850=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155480320A>C" "" "likely benign" "" "0000503580" "0" "50" "1" "155451201" "155451201" "subst" "0" "02327" "ASH1L_000022" "g.155451201A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155481410A>T" "" "VUS" "" "0000503581" "0" "30" "1" "155452063" "155452063" "subst" "7.31797E-5" "01804" "ASH1L_000023" "g.155452063G>A" "" "" "" "ASH1L(NM_018489.2):c.598C>T (p.(Arg200Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155482272G>A" "" "likely benign" "" "0000604852" "0" "30" "1" "155307936" "155307936" "subst" "8.12209E-6" "02327" "ASH1L_000024" "g.155307936C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155338145C>T" "" "likely benign" "" "0000604854" "0" "50" "1" "155448838" "155448838" "subst" "0" "02327" "ASH1L_000027" "g.155448838T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155479047T>C" "" "VUS" "" "0000620407" "0" "70" "1" "155313230" "155313231" "del" "0" "02325" "ASH1L_000025" "g.155313230_155313231del" "" "" "" "ASH1L(NM_018489.3):c.8171_8172delAC (p.H2724Pfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155343439_155343440del" "" "likely pathogenic" "" "0000653777" "0" "30" "1" "155340435" "155340435" "subst" "0.00424797" "01943" "ASH1L_000028" "g.155340435C>T" "" "" "" "ASH1L(NM_001366177.1):c.6561G>A (p.R2187=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155370644C>T" "" "likely benign" "" "0000675496" "0" "30" "1" "155311740" "155311740" "subst" "0" "02327" "ASH1L_000030" "g.155311740T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675498" "0" "50" "1" "155319379" "155319379" "subst" "8.15056E-6" "01943" "ASH1L_000032" "g.155319379G>A" "" "" "" "ASH1L(NM_001366177.1):c.7390C>T (p.R2464W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675499" "0" "30" "1" "155348337" "155348337" "subst" "0.000102827" "01943" "ASH1L_000033" "g.155348337T>A" "" "" "" "ASH1L(NM_001366177.1):c.6195A>T (p.L2065=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000683243" "0" "90" "1" "155348166" "155348166" "subst" "4.87369E-5" "00006" "ASH1L_000034" "g.155348166C>T" "" "{PMID:Wang 2016:27824329}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000683244" "0" "90" "1" "155307492" "155307492" "dup" "0" "00006" "ASH1L_000035" "g.155307492dup" "" "{PMID:Stessman 2017:28191889}" "" "XM_005245335.1:c.8868_8869delAAinsAAA" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000683252" "0" "90" "1" "155448956" "155448956" "del" "0" "00006" "ASH1L_000036" "g.155448956del" "" "{PMID:Stessman 2017:28191889}" "" "3704_3705delCTinsC" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000683253" "0" "90" "1" "155317482" "155317486" "dup" "0" "00006" "ASH1L_000037" "g.155317482_155317486dup" "" "{PMID:Stessman 2017:28191889}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000683254" "0" "90" "1" "155340680" "155340680" "subst" "0" "00006" "ASH1L_000038" "g.155340680C>A" "" "{PMID:Stessman 2017:28191889}, {PMID:Krumm 2015:25961944}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000683255" "0" "70" "1" "155311831" "155311831" "subst" "0" "00006" "ASH1L_000039" "g.155311831C>G" "" "{PMID:Okamoto 2017:28394464}" "" "" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000683275" "0" "70" "1" "155408842" "155408842" "subst" "0" "00006" "ASH1L_000040" "g.155408842G>A" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155439051G>A" "" "likely pathogenic (dominant)" "" "0000694197" "0" "70" "1" "155449630" "155449630" "del" "0" "00006" "ASH1L_000043" "g.155449630del" "" "{PMID:Faundes 2018:29276005}" "" "" "" "De novo" "" "" "0" "" "" "g.155479839del" "" "likely pathogenic (dominant)" "" "0000694198" "0" "70" "1" "155322602" "155322602" "subst" "0" "00006" "ASH1L_000042" "g.155322602G>A" "" "{PMID:Faundes 2018:29276005}" "" "" "" "De novo" "" "" "0" "" "" "g.155352811G>A" "" "likely pathogenic (dominant)" "" "0000694199" "0" "70" "1" "155271366" "155804269" "del" "0" "00006" "ASH1L_000041" "g.(?_155271366)_(155804269_?)del" "" "{PMID:Faundes 2018:29276005}" "" "155271366-155804269del" "532.9 Kb deletion" "De novo" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000694809" "0" "90" "1" "155322602" "155322602" "subst" "0" "00006" "ASH1L_000042" "g.155322602G>A" "" "{PMID:Faundes 2018:29276005}" "" "7276C>T (Arg2426Ter)" "no possible causative variants identified in other genes" "De novo" "" "" "0" "" "" "g.155352811G>A" "" "pathogenic" "ACMG" "0000694810" "11" "50" "1" "155408472" "155408472" "subst" "8.93474E-5" "00006" "ASH1L_000045" "g.155408472T>G" "" "{PMID:Faundes 2018:29276005}" "" "" "possible causative variant identified in UBA6" "Germline" "" "" "0" "" "" "g.155438681T>G" "" "VUS" "ACMG" "0000694811" "21" "50" "1" "155408686" "155408686" "subst" "0.000397947" "00006" "ASH1L_000046" "g.155408686T>A" "" "{PMID:Faundes 2018:29276005}" "" "" "possible causative variant identified in PARD3, SORCS1" "Germline" "" "" "0" "" "" "g.155438895T>A" "" "VUS" "ACMG" "0000694812" "21" "30" "1" "155447721" "155447721" "subst" "8.13147E-6" "00006" "ASH1L_000047" "g.155447721T>C" "" "{PMID:Faundes 2018:29276005}" "" "" "possible causative variant identified in FZD5" "Germline" "" "" "0" "" "" "g.155477930T>C" "" "likely benign" "ACMG" "0000694813" "0" "90" "1" "155449630" "155449630" "del" "0" "00006" "ASH1L_000043" "g.155449630del" "" "{PMID:Faundes 2018:29276005}" "" "" "no possible causative variants identified in other genes" "De novo" "" "" "0" "" "" "g.155479839del" "" "pathogenic" "ACMG" "0000694814" "11" "50" "1" "155451587" "155451587" "subst" "0" "00006" "ASH1L_000048" "g.155451587C>A" "" "{PMID:Faundes 2018:29276005}" "" "" "possible causative variant identified in ARID1A, FAT4" "Germline" "" "" "0" "" "" "g.155481796C>A" "" "VUS" "ACMG" "0000694995" "0" "90" "1" "155192986" "156108069" "del" "0" "00006" "ASH1L_000044" "g.(?_155192986)_(156108069_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects genes LMNA, RIT1" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694996" "0" "90" "1" "155009141" "155983764" "del" "0" "00006" "ASH1L_000044" "g.(?_155009141)_(155983764_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects RIT1 gene; individual carries other CNVs 5:68987563-69134911, 6:32497352-32624816, 10:48879347-49262377, 14:107263183-107287476, 17:44208007-44476664" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694997" "0" "90" "1" "154292095" "155569326" "del" "0" "00006" "ASH1L_000044" "g.(?_154292095)_(155569326_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects CHRNB2 gene" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694998" "0" "90" "1" "155296964" "158056876" "del" "0" "00006" "ASH1L_000044" "g.(?_155296964)_(158056876_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects genes LMNA, RIT1" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000703909" "11" "90" "1" "155016052" "155952375" "del" "0" "00006" "ASH1L_000044" "g.(?_155016052)_(155952375_?)del" "" "{PMID:Xi 2020:32518592}" "" "" "936.3 kb deletion, de novo in father of patient" "Germline" "yes" "" "0" "" "arr[GRCh37] 1q22 (155016052_155952375)×1" "" "" "pathogenic (dominant)" "" "0000703910" "0" "90" "1" "155450238" "155450239" "delins" "0" "00006" "ASH1L_000049" "g.155450238_155450239delinsA" "" "{PMID:Shen 2019:29753921}" "" "2422_2423delAAinsT" "" "De novo" "" "" "0" "" "" "NC_000001.11:g.155480447_155480448delinsA" "" "pathogenic (dominant)" "" "0000703912" "0" "90" "1" "155448619" "155448623" "del" "0" "00006" "ASH1L_000050" "g.155448619_155448623del" "" "{PMID:Homsy 2015:26785492}" "" "4039_4043delAAAAA" "" "De novo" "" "" "0" "" "" "g.155478828_155478832del" "" "pathogenic (dominant)" "" "0000716881" "0" "50" "1" "155408532" "155408532" "subst" "0" "02329" "ASH1L_000051" "g.155408532C>A" "" "" "" "ASH1L(NM_001366177.2):c.5414G>T (p.R1805L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716882" "0" "50" "1" "155408658" "155408658" "subst" "4.06068E-6" "02329" "ASH1L_000026" "g.155408658T>C" "" "" "" "ASH1L(NM_018489.3):c.5288A>G (p.D1763G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716883" "0" "70" "1" "155449217" "155449218" "del" "0" "02327" "ASH1L_000052" "g.155449217_155449218del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000716884" "0" "30" "1" "155449342" "155449342" "subst" "0.000451576" "01943" "ASH1L_000053" "g.155449342T>C" "" "" "" "ASH1L(NM_018489.2):c.3319A>G (p.(Ile1107Val)), ASH1L(NM_018489.3):c.3319A>G (p.I1107V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716885" "0" "30" "1" "155450491" "155450491" "subst" "0" "02327" "ASH1L_000012" "g.155450491C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798818" "0" "30" "1" "155330167" "155330167" "subst" "2.84319E-5" "01943" "ASH1L_000054" "g.155330167A>G" "" "" "" "ASH1L(NM_001366177.1):c.6735T>C (p.Y2245=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798819" "0" "30" "1" "155408600" "155408600" "subst" "0.00392674" "01943" "ASH1L_000055" "g.155408600T>C" "" "" "" "ASH1L(NM_001366177.1):c.5346A>G (p.L1782=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798820" "0" "50" "1" "155449432" "155449432" "subst" "0" "01943" "ASH1L_000056" "g.155449432C>T" "" "" "" "ASH1L(NM_001366177.1):c.3229G>A (p.A1077T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000798821" "0" "50" "1" "155451288" "155451288" "subst" "8.13696E-6" "02325" "ASH1L_000057" "g.155451288T>C" "" "" "" "ASH1L(NM_018489.3):c.1373A>G (p.D458G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000841306" "0" "90" "1" "155449984" "155449984" "dup" "0" "00006" "ASH1L_000058" "g.155449984dup" "" "{PMID:Liu 2021:34373061}" "" "" "" "De novo" "" "" "0" "" "" "g.155480193dup" "" "pathogenic (dominant)" "" "0000841308" "0" "70" "1" "155491209" "155491209" "subst" "0" "00006" "ASH1L_000103" "g.155491209C>G" "" "{PMID:Pissard 2007:17382129}{PMID:Guo 2018:30564305} acc. to {PMID:Liu 2021:34373061}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155521418C>G" "" "likely pathogenic" "" "0000841309" "0" "70" "1" "155491136" "155491136" "subst" "0" "00006" "ASH1L_000102" "g.155491136C>T" "" "{PMID:Guo 2018:30564305} acc. to {PMID:Liu 2021:34373061}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155521345C>T" "" "likely pathogenic" "" "0000841310" "0" "70" "1" "155491090" "155491090" "subst" "0" "00006" "ASH1L_000101" "g.155491090G>A" "" "{PMID:Wang 2016:27824329} acc. to {PMID:Liu 2021:34373061}" "" "" "" "De novo" "" "" "0" "" "" "g.155521299G>A" "" "likely pathogenic" "" "0000841311" "0" "70" "1" "155491016" "155491016" "subst" "0" "00006" "ASH1L_000100" "g.155491016G>T" "" "{PMID:Guo 2018:30564305} acc. to {PMID:Liu 2021:34373061}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155521225G>T" "" "likely pathogenic" "" "0000841312" "0" "70" "1" "155452170" "155452170" "subst" "0.000825666" "00006" "ASH1L_000099" "g.155452170C>T" "" "{PMID:Fromer 2014:24463507} acc. to {PMID:Liu 2021:34373061}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155482379C>T" "" "likely pathogenic" "" "0000841313" "0" "70" "1" "155452158" "155452158" "subst" "0" "00006" "ASH1L_000098" "g.155452158T>A" "" "{PMID:Guo 2018:30564305} acc. to {PMID:Liu 2021:34373061}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155482367T>A" "" "likely pathogenic" "" "0000841314" "0" "70" "1" "155452104" "155452104" "subst" "0" "00006" "ASH1L_000097" "g.155452104G>A" "" "{PMID:Guo 2018:30564305} acc. to {PMID:Liu 2021:34373061}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155482313G>A" "" "likely pathogenic" "" "0000841315" "0" "70" "1" "155452054" "155452054" "subst" "0" "00006" "ASH1L_000096" "g.155452054C>T" "" "{PMID:Guo 2018:30564305} acc. to {PMID:Liu 2021:34373061}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155482263C>T" "" "likely pathogenic" "" "0000841316" "0" "70" "1" "155451759" "155451759" "subst" "0" "00006" "ASH1L_000095" "g.155451759T>C" "" "{PMID:Guo 2018:30564305} acc. to {PMID:Liu 2021:34373061}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155481968T>C" "" "likely pathogenic" "" "0000841317" "0" "70" "1" "155451145" "155451146" "del" "0" "00006" "ASH1L_000094" "g.155451145_155451146del" "" "{PMID:Yuen 2017:28263302} acc. to {PMID:Liu 2021:34373061}" "" "c.1516_1517delTT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155481354_155481355del" "" "likely pathogenic" "" "0000841318" "0" "70" "1" "155451004" "155451004" "subst" "0" "00006" "ASH1L_000093" "g.155451004T>C" "" "{PMID:Guo 2018:30564305} acc. to {PMID:Liu 2021:34373061}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155481213T>C" "" "likely pathogenic" "" "0000841319" "0" "70" "1" "155450971" "155450971" "subst" "0" "00006" "ASH1L_000092" "g.155450971C>T" "" "{PMID:Guo 2018:30564305} acc. to {PMID:Liu 2021:34373061}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155481180C>T" "" "likely pathogenic" "" "0000841320" "0" "70" "1" "155450742" "155450742" "subst" "0" "00006" "ASH1L_000091" "g.155450742T>C" "" "{PMID:Guo 2018:30564305} acc. to {PMID:Liu 2021:34373061}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155480951T>C" "" "likely pathogenic" "" "0000841321" "0" "70" "1" "155450475" "155450475" "subst" "4.88862E-5" "00006" "ASH1L_000090" "g.155450475C>T" "" "{PMID:Guo 2018:30564305} acc. to {PMID:Liu 2021:34373061}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155480684C>T" "" "likely pathogenic" "" "0000841322" "0" "70" "1" "155450469" "155450469" "subst" "8.14399E-6" "00006" "ASH1L_000089" "g.155450469G>C" "" "{PMID:Guo 2018:30564305} acc. to {PMID:Liu 2021:34373061}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155480678G>C" "" "likely pathogenic" "" "0000841323" "0" "70" "1" "155450407" "155450407" "subst" "0" "00006" "ASH1L_000088" "g.155450407T>C" "" "{PMID:Guo 2018:30564305} acc. to {PMID:Liu 2021:34373061}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155480616T>C" "" "likely pathogenic" "" "0000841324" "0" "70" "1" "155450188" "155450188" "subst" "8.14034E-6" "00006" "ASH1L_000087" "g.155450188T>C" "" "{PMID:Guo 2018:30564305} acc. to {PMID:Liu 2021:34373061}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155480397T>C" "" "likely pathogenic" "" "0000841325" "0" "70" "1" "155449633" "155449633" "subst" "0" "00006" "ASH1L_000086" "g.155449633T>C" "" "{PMID:Guo 2018:30564305} acc. to {PMID:Liu 2021:34373061}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155479842T>C" "" "likely pathogenic" "" "0000841326" "0" "70" "1" "155449621" "155449621" "subst" "1.62788E-5" "00006" "ASH1L_000085" "g.155449621C>T" "" "{PMID:Guo 2018:30564305} acc. to {PMID:Liu 2021:34373061}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155479830C>T" "" "likely pathogenic" "" "0000841327" "0" "70" "1" "155449342" "155449342" "subst" "0.000451576" "00006" "ASH1L_000053" "g.155449342T>C" "" "{PMID:Carraro 2019:31144778} acc. to {PMID:Liu 2021:34373061}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155479551T>C" "" "likely pathogenic" "" "0000841328" "0" "70" "1" "155449342" "155449342" "subst" "0.000451576" "00006" "ASH1L_000053" "g.155449342T>C" "" "{PMID:Aspromonte 2019:31209962} acc. to {PMID:Liu 2021:34373061}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155479551T>C" "" "likely pathogenic" "" "0000841329" "0" "70" "1" "155449182" "155449182" "subst" "2.44196E-5" "00006" "ASH1L_000084" "g.155449182C>T" "" "{PMID:Guo 2018:30564305} acc. to {PMID:Liu 2021:34373061}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155479391C>T" "" "likely pathogenic" "" "0000841330" "0" "70" "1" "155449170" "155449170" "subst" "0" "00006" "ASH1L_000083" "g.155449170G>A" "" "{PMID:Guo 2018:30564305} acc. to {PMID:Liu 2021:34373061}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155479379G>A" "" "likely pathogenic" "" "0000841331" "0" "70" "1" "155448917" "155448918" "del" "0" "00006" "ASH1L_000082" "g.155448917_155448918del" "" "{PMID:Wang 2016:27824329} acc. to {PMID:Liu 2021:34373061}" "" "c.3744_3745delTA" "" "De novo" "" "" "0" "" "" "g.155479126_155479127del" "" "likely pathogenic" "" "0000841332" "0" "70" "1" "155448917" "155448918" "del" "0" "00006" "ASH1L_000082" "g.155448917_155448918del" "" "{PMID:Kosmicki 2017:28191890} acc. to {PMID:Liu 2021:34373061}" "" "c.3744_3745delTA" "" "De novo" "" "" "0" "" "" "g.155479126_155479127del" "" "likely pathogenic" "" "0000841333" "0" "70" "1" "155448917" "155448918" "del" "0" "00006" "ASH1L_000082" "g.155448917_155448918del" "" "{PMID:De Rubeis 2014:25363760} acc. to {PMID:Liu 2021:34373061}" "" "c.3744_3745delTA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155479126_155479127del" "" "likely pathogenic" "" "0000841334" "0" "70" "1" "155448619" "155448623" "del" "0" "00006" "ASH1L_000050" "g.155448619_155448623del" "" "{PMID:Kosmicki 2017:28191890} acc. to {PMID:Liu 2021:34373061}" "" "c.4039_4043delAAAAA" "" "De novo" "" "" "0" "" "" "g.155478828_155478832del" "" "likely pathogenic" "" "0000841335" "0" "70" "1" "155448565" "155448565" "subst" "4.06663E-6" "00006" "ASH1L_000081" "g.155448565T>C" "" "{PMID:Guo 2018:30564305} acc. to {PMID:Liu 2021:34373061}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155478774T>C" "" "likely pathogenic" "" "0000841336" "0" "70" "1" "155448109" "155448109" "subst" "4.06273E-5" "00006" "ASH1L_000080" "g.155448109T>C" "" "{PMID:Guo 2018:30564305} acc. to {PMID:Liu 2021:34373061}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155478318T>C" "" "likely pathogenic" "" "0000841337" "0" "70" "1" "155448094" "155448094" "subst" "0" "00006" "ASH1L_000079" "g.155448094C>T" "" "{PMID:Guo 2018:30564305} acc. to {PMID:Liu 2021:34373061}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155478303C>T" "" "likely pathogenic" "" "0000841338" "0" "70" "1" "155448078" "155448078" "subst" "7.71962E-5" "00006" "ASH1L_000078" "g.155448078T>C" "" "{PMID:Guo 2018:30564305} acc. to {PMID:Liu 2021:34373061}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155478287T>C" "" "likely pathogenic" "" "0000841339" "0" "70" "1" "155448027" "155448027" "subst" "0" "00006" "ASH1L_000077" "g.155448027G>A" "" "{PMID:Guo 2018:30564305} acc. to {PMID:Liu 2021:34373061}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155478236G>A" "" "likely pathogenic" "" "0000841340" "0" "70" "1" "155448004" "155448007" "del" "0" "00006" "ASH1L_000076" "g.155448004_155448007del" "" "{PMID:Jansen 2018:29209020} acc. to {PMID:Liu 2021:34373061}" "" "c.4656_4659delAGAG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155478213_155478216del" "" "likely pathogenic" "" "0000841341" "0" "70" "1" "155447943" "155447943" "subst" "2.43821E-5" "00006" "ASH1L_000075" "g.155447943G>A" "" "{PMID:Guo 2018:30564305} acc. to {PMID:Liu 2021:34373061}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155478152G>A" "" "likely pathogenic" "" "0000841342" "0" "70" "1" "155447814" "155447814" "subst" "0" "00006" "ASH1L_000074" "g.155447814A>G" "" "{PMID:Guo 2018:30564305} acc. to {PMID:Liu 2021:34373061}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155478023A>G" "" "likely pathogenic" "" "0000841343" "0" "70" "1" "155429689" "155429689" "subst" "0" "00006" "ASH1L_000073" "g.155429689C>T" "" "{PMID:Wang 2016:27824329} acc. to {PMID:Liu 2021:34373061}" "" "" "" "De novo" "" "" "0" "" "" "g.155459898C>T" "" "likely pathogenic" "" "0000841344" "0" "70" "1" "155408695" "155408695" "subst" "4.87286E-5" "00006" "ASH1L_000072" "g.155408695G>A" "" "{PMID:Guo 2018:30564305} acc. to {PMID:Liu 2021:34373061}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155438904G>A" "" "likely pathogenic" "" "0000841345" "0" "70" "1" "155408676" "155408676" "subst" "0" "00006" "ASH1L_000071" "g.155408676C>T" "" "{PMID:Guo 2018:30564305} acc. to {PMID:Liu 2021:34373061}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155438885C>T" "" "likely pathogenic" "" "0000841346" "0" "70" "1" "155408310" "155408311" "del" "0" "00006" "ASH1L_000070" "g.155408310_155408311del" "" "{PMID:Jansen 2018:29209020} acc. to {PMID:Liu 2021:34373061}" "" "c.5638_5639delGA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155438519_155438520del" "" "likely pathogenic" "" "0000841347" "0" "70" "1" "155408266" "155408266" "subst" "4.06577E-6" "00006" "ASH1L_000069" "g.155408266T>C" "" "{PMID:Guo 2018:30564305} acc. to {PMID:Liu 2021:34373061}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155438475T>C" "" "likely pathogenic" "" "0000841348" "0" "70" "1" "155408202" "155408202" "subst" "1.2254E-5" "00006" "ASH1L_000068" "g.155408202T>C" "" "{PMID:Guo 2018:30564305} acc. to {PMID:Liu 2021:34373061}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155438411T>C" "" "likely pathogenic" "" "0000841349" "0" "70" "1" "155340680" "155340680" "subst" "0" "00006" "ASH1L_000038" "g.155340680C>A" "" "{PMID:Kosmicki 2017:28191890} acc. to {PMID:Liu 2021:34373061}" "" "" "" "De novo" "" "" "0" "" "" "g.155370889C>A" "" "likely pathogenic" "" "0000841350" "0" "70" "1" "155340680" "155340680" "subst" "0" "00006" "ASH1L_000038" "g.155340680C>A" "" "{PMID:Iossifov 2014:25363768} acc. to {PMID:Liu 2021:34373061}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155370889C>A" "" "likely pathogenic" "" "0000841351" "0" "70" "1" "155327116" "155327116" "subst" "3.65684E-5" "00006" "ASH1L_000067" "g.155327116T>C" "" "{PMID:Guo 2018:30564305} acc. to {PMID:Liu 2021:34373061}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155357325T>C" "" "likely pathogenic" "" "0000841352" "0" "70" "1" "155324419" "155324419" "subst" "4.59939E-5" "00006" "ASH1L_000066" "g.155324419T>G" "" "{PMID:Guo 2018:30564305} acc. to {PMID:Liu 2021:34373061}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155354628T>G" "" "likely pathogenic" "" "0000841353" "0" "70" "1" "155324305" "155324305" "subst" "8.1894E-6" "00006" "ASH1L_000065" "g.155324305C>T" "" "{PMID:Stessman 2017:28191889} acc. to {PMID:Liu 2021:34373061}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155354514C>T" "" "likely pathogenic" "" "0000841354" "0" "70" "1" "155324288" "155324288" "subst" "0" "00006" "ASH1L_000064" "g.155324288G>A" "" "{PMID:Yuen 2017:28263302} acc. to {PMID:Liu 2021:34373061}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155354497G>A" "" "likely pathogenic" "" "0000841355" "0" "70" "1" "155324288" "155324288" "subst" "0" "00006" "ASH1L_000064" "g.155324288G>A" "" "{PMID:Tammimies 2015:26325558} acc. to {PMID:Liu 2021:34373061}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155354497G>A" "" "likely pathogenic" "" "0000841356" "0" "70" "1" "155322602" "155322602" "subst" "0" "00006" "ASH1L_000042" "g.155322602G>A" "" "{PMID:DDDS 2017:28135719} acc. to {PMID:Liu 2021:34373061}" "" "" "" "De novo" "" "" "0" "" "" "g.155352811G>A" "" "likely pathogenic" "" "0000841357" "0" "70" "1" "155317483" "155317486" "dup" "0" "00006" "ASH1L_000063" "g.155317483_155317486dup" "" "{PMID:Kosmicki 2017:28191890} acc. to {PMID:Liu 2021:34373061}" "" "c.7764_7767dupCAAG" "" "De novo" "" "" "0" "" "" "g.155347692_155347695dup" "" "likely pathogenic" "" "0000841358" "0" "70" "1" "155311845" "155311845" "subst" "0" "00006" "ASH1L_000062" "g.155311845C>T" "" "{PMID:Guo 2018:30564305} acc. to {PMID:Liu 2021:34373061}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155342054C>T" "" "likely pathogenic" "" "0000841359" "0" "70" "1" "155309150" "155309150" "subst" "4.46809E-5" "00006" "ASH1L_000061" "g.155309150C>T" "" "{PMID:Guo 2018:30564305} acc. to {PMID:Liu 2021:34373061}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155339359C>T" "" "likely pathogenic" "" "0000841360" "0" "70" "1" "155308042" "155308042" "subst" "5.6869E-5" "00006" "ASH1L_000060" "g.155308042G>A" "" "{PMID:Guo 2018:30564305} acc. to {PMID:Liu 2021:34373061}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155338251G>A" "" "likely pathogenic" "" "0000841361" "0" "70" "1" "155307459" "155307459" "subst" "0.000109652" "00006" "ASH1L_000059" "g.155307459G>A" "" "{PMID:Yuen 2017:28263302} acc. to {PMID:Liu 2021:34373061}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155337668G>A" "" "likely pathogenic" "" "0000848326" "0" "50" "1" "155311812" "155311812" "subst" "0" "02325" "ASH1L_000104" "g.155311812A>C" "" "" "" "ASH1L(NM_018489.3):c.8375T>G (p.I2792S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848327" "0" "50" "1" "155313116" "155313116" "subst" "8.16853E-6" "01943" "ASH1L_000105" "g.155313116G>A" "" "" "" "ASH1L(NM_018489.3):c.8282C>T (p.T2761M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848328" "0" "30" "1" "155330148" "155330148" "subst" "4.06131E-6" "01943" "ASH1L_000107" "g.155330148C>A" "" "" "" "ASH1L(NM_018489.3):c.6739G>T (p.A2247S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848329" "0" "30" "1" "155448878" "155448878" "subst" "0.000264863" "01943" "ASH1L_000108" "g.155448878G>A" "" "" "" "ASH1L(NM_018489.3):c.3783C>T (p.S1261=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848330" "0" "30" "1" "155449492" "155449492" "subst" "0" "01943" "ASH1L_000111" "g.155449492T>G" "" "" "" "ASH1L(NM_018489.3):c.3169A>C (p.T1057P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857042" "0" "50" "1" "155317583" "155317583" "subst" "0" "01804" "ASH1L_000106" "g.155317583G>A" "" "" "" "ASH1L(NM_018489.2):c.7667C>T (p.(Thr2556Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857043" "0" "30" "1" "155449067" "155449067" "subst" "0.000358172" "01943" "ASH1L_000109" "g.155449067G>A" "" "" "" "ASH1L(NM_001366177.1):c.3594C>T (p.P1198=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857044" "0" "50" "1" "155449158" "155449158" "subst" "0" "02329" "ASH1L_000110" "g.155449158G>T" "" "" "" "ASH1L(NM_001366177.2):c.3503C>A (p.P1168Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857045" "0" "30" "1" "155449342" "155449342" "subst" "0.000451576" "02326" "ASH1L_000053" "g.155449342T>C" "" "" "" "ASH1L(NM_018489.2):c.3319A>G (p.(Ile1107Val)), ASH1L(NM_018489.3):c.3319A>G (p.I1107V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882812" "0" "30" "1" "155327419" "155327419" "subst" "4.46762E-5" "02325" "ASH1L_000112" "g.155327419C>T" "" "" "" "ASH1L(NM_018489.3):c.6917G>A (p.R2306Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882813" "0" "90" "1" "155408161" "155408161" "subst" "0" "02326" "ASH1L_000113" "g.155408161G>A" "" "" "" "ASH1L(NM_018489.3):c.5785C>T (p.Q1929*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000882814" "0" "30" "1" "155408771" "155408771" "subst" "0.00045483" "01943" "ASH1L_000114" "g.155408771C>T" "" "" "" "ASH1L(NM_001366177.1):c.5175G>A (p.E1725=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882815" "0" "70" "1" "155447846" "155447846" "del" "0" "02327" "ASH1L_000115" "g.155447846del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000882816" "0" "30" "1" "155447868" "155447868" "subst" "0.000410469" "01943" "ASH1L_000116" "g.155447868G>A" "" "" "" "ASH1L(NM_001366177.1):c.4793C>T (p.A1598V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882817" "0" "70" "1" "155452074" "155452074" "del" "0" "02327" "ASH1L_000117" "g.155452074del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000910791" "0" "70" "1" "155330201" "155330201" "subst" "0" "02329" "ASH1L_000118" "g.155330201C>T" "" "" "" "ASH1L(NM_001366177.2):c.6702-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000922966" "0" "50" "1" "155449174" "155449176" "del" "0" "02325" "ASH1L_000119" "g.155449174_155449176del" "" "" "" "ASH1L(NM_018489.3):c.3490_3492delCCT (p.P1164del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928024" "0" "50" "1" "155452068" "155452068" "subst" "4.06573E-6" "02325" "ASH1L_000120" "g.155452068C>A" "" "" "" "ASH1L(NM_018489.3):c.593G>T (p.G198V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000946990" "0" "90" "1" "155448616" "155448616" "del" "0" "02325" "ASH1L_000122" "g.155448616del" "" "" "" "ASH1L(NM_018489.3):c.4048delA (p.R1350Efs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000946991" "0" "70" "1" "155450056" "155450056" "subst" "0" "02327" "ASH1L_000123" "g.155450056G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000960547" "0" "50" "1" "155449437" "155449437" "subst" "0" "02325" "ASH1L_000124" "g.155449437T>C" "" "" "" "ASH1L(NM_018489.3):c.3224A>G (p.Q1075R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000960549" "0" "70" "1" "155452080" "155452081" "dup" "0" "02325" "ASH1L_000125" "g.155452080_155452081dup" "" "" "" "ASH1L(NM_018489.3):c.581_582dupCT (p.T195Lfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000973367" "0" "50" "1" "155308125" "155308125" "subst" "4.06204E-6" "01804" "ASH1L_000126" "g.155308125T>C" "" "" "" "ASH1L(NM_018489.3):c.8558A>G (p.(Asp2853Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973368" "0" "30" "1" "155313979" "155313979" "subst" "9.34967E-5" "01804" "ASH1L_000127" "g.155313979C>T" "" "" "" "ASH1L(NM_018489.3):c.7976G>A (p.(Arg2659His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973369" "0" "30" "1" "155327116" "155327116" "subst" "3.65684E-5" "01804" "ASH1L_000067" "g.155327116T>C" "" "" "" "ASH1L(NM_018489.3):c.7046A>G (p.(Asn2349Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973370" "0" "30" "1" "155408815" "155408815" "subst" "2.86037E-5" "01804" "ASH1L_000128" "g.155408815C>G" "" "" "" "ASH1L(NM_018489.2):c.5131G>C (p.(Asp1711His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973371" "0" "30" "1" "155415036" "155415036" "subst" "0" "01804" "ASH1L_000129" "g.155415036G>A" "" "" "" "ASH1L(NM_018489.3):c.5087-6177C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973372" "0" "50" "1" "155448318" "155448318" "subst" "0" "01804" "ASH1L_000130" "g.155448318C>T" "" "" "" "ASH1L(NM_018489.3):c.4343G>A (p.(Arg1448Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973373" "0" "50" "1" "155450267" "155450267" "subst" "0" "01804" "ASH1L_000131" "g.155450267T>A" "" "" "" "ASH1L(NM_018489.3):c.2394A>T (p.(Lys798Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973374" "0" "50" "1" "155450340" "155450340" "subst" "0" "01804" "ASH1L_000132" "g.155450340A>G" "" "" "" "ASH1L(NM_018489.3):c.2321T>C (p.(Phe774Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000985378" "0" "70" "1" "155363168" "155394202" "del" "0" "04653" "ASH1L_000133" "g.155363368_155394202del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.155393577_155424411del" "" "likely pathogenic (dominant)" "other" "0000990388" "0" "30" "1" "155311884" "155311884" "subst" "0" "01804" "ASH1L_000134" "g.155311884T>C" "" "" "" "ASH1L(NM_018489.2):c.8303A>G (p.(Lys2768Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990389" "0" "50" "1" "155314030" "155314030" "subst" "1.62533E-5" "01804" "ASH1L_000135" "g.155314030T>G" "" "" "" "ASH1L(NM_018489.2):c.7925A>C (p.(Gln2642Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990390" "0" "50" "1" "155319168" "155319168" "subst" "0" "01804" "ASH1L_000136" "g.155319168T>A" "" "" "" "ASH1L(NM_018489.2):c.7504A>T (p.(Thr2502Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990391" "0" "70" "1" "155324288" "155324288" "subst" "0" "02327" "ASH1L_000064" "g.155324288G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000990392" "0" "50" "1" "155340677" "155340677" "subst" "0" "01804" "ASH1L_000137" "g.155340677G>A" "" "" "" "ASH1L(NM_018489.2):c.6430C>T (p.(Arg2144*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990393" "0" "70" "1" "155408392" "155408392" "subst" "0" "01804" "ASH1L_000138" "g.155408392G>A" "" "" "" "ASH1L(NM_018489.2):c.5554C>T (p.(Arg1852*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000990394" "0" "30" "1" "155408578" "155408578" "subst" "0" "01804" "ASH1L_000139" "g.155408578A>G" "" "" "" "ASH1L(NM_018489.2):c.5368T>C (p.(Cys1790Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990395" "0" "30" "1" "155408609" "155408609" "subst" "8.12123E-6" "01804" "ASH1L_000140" "g.155408609G>C" "" "" "" "ASH1L(NM_018489.2):c.5337C>G (p.(Ile1779Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990396" "0" "30" "1" "155408663" "155408663" "subst" "0" "01804" "ASH1L_000141" "g.155408663T>G" "" "" "" "ASH1L(NM_018489.2):c.5283A>C (p.(Lys1761Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990397" "0" "50" "1" "155408757" "155408757" "subst" "0" "01804" "ASH1L_000142" "g.155408757A>G" "" "" "" "ASH1L(NM_018489.2):c.5189T>C (p.(Met1730Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990398" "0" "50" "1" "155408854" "155408854" "subst" "4.30293E-6" "01804" "ASH1L_000143" "g.155408854C>T" "" "" "" "ASH1L(NM_018489.2):c.5092G>A (p.(Gly1698Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990399" "0" "50" "1" "155447966" "155447966" "subst" "4.06322E-6" "01804" "ASH1L_000144" "g.155447966A>C" "" "" "" "ASH1L(NM_018489.2):c.4695T>G (p.(Ser1565Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990400" "0" "30" "1" "155448072" "155448072" "subst" "2.4375E-5" "01804" "ASH1L_000145" "g.155448072T>A" "" "" "" "ASH1L(NM_018489.2):c.4589A>T (p.(His1530Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990401" "0" "50" "1" "155448549" "155448549" "subst" "1.62655E-5" "01804" "ASH1L_000146" "g.155448549A>T" "" "" "" "ASH1L(NM_018489.2):c.4112T>A (p.(Phe1371Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990402" "0" "50" "1" "155448625" "155448625" "subst" "2.03487E-5" "01804" "ASH1L_000147" "g.155448625A>C" "" "" "" "ASH1L(NM_018489.2):c.4036T>G (p.(Leu1346Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990403" "0" "50" "1" "155448678" "155448678" "subst" "2.44137E-5" "01804" "ASH1L_000148" "g.155448678T>C" "" "" "" "ASH1L(NM_018489.2):c.3983A>G (p.(Tyr1328Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990404" "0" "30" "1" "155449342" "155449342" "subst" "0.000451576" "01804" "ASH1L_000053" "g.155449342T>C" "" "" "" "ASH1L(NM_018489.2):c.3319A>G (p.(Ile1107Val)), ASH1L(NM_018489.3):c.3319A>G (p.I1107V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990405" "0" "50" "1" "155450094" "155450094" "subst" "4.06818E-6" "01804" "ASH1L_000149" "g.155450094G>C" "" "" "" "ASH1L(NM_018489.2):c.2567C>G (p.(Ser856Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990406" "0" "30" "1" "155450284" "155450284" "subst" "4.47686E-5" "01804" "ASH1L_000150" "g.155450284A>C" "" "" "" "ASH1L(NM_018489.2):c.2377T>G (p.(Leu793Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990407" "0" "30" "1" "155450918" "155450918" "subst" "4.06544E-6" "01804" "ASH1L_000151" "g.155450918A>C" "" "" "" "ASH1L(NM_018489.2):c.1743T>G (p.(Asn581Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990408" "0" "30" "1" "155451210" "155451210" "subst" "2.8533E-5" "01804" "ASH1L_000152" "g.155451210C>T" "" "" "" "ASH1L(NM_018489.2):c.1451G>A (p.(Arg484Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990409" "0" "50" "1" "155451250" "155451250" "subst" "2.0359E-5" "01804" "ASH1L_000153" "g.155451250G>A" "" "" "" "ASH1L(NM_018489.2):c.1411C>T (p.(Arg471Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990410" "0" "30" "1" "155451969" "155451969" "subst" "4.06322E-6" "01804" "ASH1L_000154" "g.155451969T>C" "" "" "" "ASH1L(NM_018489.2):c.692A>G (p.(Lys231Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990411" "0" "30" "1" "155491006" "155491006" "subst" "4.06157E-6" "01804" "ASH1L_000155" "g.155491006T>G" "" "" "" "ASH1L(NM_018489.2):c.305A>C (p.(Asn102Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990412" "0" "30" "1" "155491231" "155491231" "subst" "8.12295E-6" "01804" "ASH1L_000156" "g.155491231C>T" "" "" "" "ASH1L(NM_018489.2):c.80G>A (p.(Ser27Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013216" "0" "30" "1" "155340786" "155340786" "dup" "0" "02325" "ASH1L_000157" "g.155340786dup" "" "" "" "ASH1L(NM_018489.3):c.6333-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031326" "0" "30" "1" "155311728" "155311728" "subst" "2.84594E-5" "01804" "ASH1L_000158" "g.155311728G>A" "" "" "" "ASH1L(NM_018489.3):c.8459C>T (p.(Ser2820Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031327" "0" "30" "1" "155320488" "155320488" "subst" "0" "01804" "ASH1L_000159" "g.155320488C>T" "" "" "" "ASH1L(NM_018489.3):c.7367-1101G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031328" "0" "50" "1" "155324311" "155324311" "subst" "8.1316E-6" "01804" "ASH1L_000160" "g.155324311T>C" "" "" "" "ASH1L(NM_018489.3):c.7166A>G (p.(Tyr2389Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031329" "0" "30" "1" "155326907" "155326910" "del" "0" "01804" "ASH1L_000161" "g.155326907_155326910del" "" "" "" "ASH1L(NM_018489.3):c.7055+234_7055+237del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031330" "0" "30" "1" "155330526" "155330526" "subst" "0" "01804" "ASH1L_000162" "g.155330526G>A" "" "" "" "ASH1L(NM_018489.3):c.6687-326C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031331" "0" "30" "1" "155339733" "155339733" "del" "0" "01804" "ASH1L_000163" "g.155339733del" "" "" "" "ASH1L(NM_018489.3):c.6686+562del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031332" "0" "30" "1" "155341137" "155341137" "subst" "0" "01804" "ASH1L_000164" "g.155341137A>G" "" "" "" "ASH1L(NM_018489.3):c.6333-363T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031333" "0" "50" "1" "155348299" "155348299" "subst" "4.06967E-6" "01804" "ASH1L_000165" "g.155348299C>T" "" "" "" "ASH1L(NM_018489.3):c.6218G>A (p.(Arg2073His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031334" "0" "30" "1" "155362754" "155362754" "subst" "0" "01804" "ASH1L_000166" "g.155362754C>T" "" "" "" "ASH1L(NM_018489.3):c.6103+2496G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031335" "0" "30" "1" "155386234" "155386234" "subst" "0" "01804" "ASH1L_000167" "g.155386234T>C" "" "" "" "ASH1L(NM_018489.3):c.5829-520A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031336" "0" "30" "1" "155402672" "155402672" "subst" "0" "01804" "ASH1L_000168" "g.155402672G>A" "" "" "" "ASH1L(NM_018489.3):c.5828+5446C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031337" "0" "30" "1" "155408686" "155408686" "subst" "0.000397947" "01804" "ASH1L_000046" "g.155408686T>A" "" "" "" "ASH1L(NM_018489.3):c.5260A>T (p.(Ser1754Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031339" "0" "50" "1" "155448672" "155448672" "subst" "0" "01804" "ASH1L_000169" "g.155448672T>C" "" "" "" "ASH1L(NM_018489.3):c.3989A>G (p.(His1330Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031340" "0" "30" "1" "155448805" "155448805" "subst" "8.13524E-6" "01804" "ASH1L_000170" "g.155448805C>T" "" "" "" "ASH1L(NM_018489.3):c.3856G>A (p.(Asp1286Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031341" "0" "50" "1" "155449320" "155449320" "subst" "0" "01804" "ASH1L_000171" "g.155449320G>T" "" "" "" "ASH1L(NM_018489.3):c.3341C>A (p.(Thr1114Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031342" "0" "50" "1" "155450029" "155450029" "subst" "0" "01804" "ASH1L_000172" "g.155450029T>C" "" "" "" "ASH1L(NM_018489.3):c.2632A>G (p.(Lys878Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031343" "0" "50" "1" "155451505" "155451505" "subst" "0" "01804" "ASH1L_000173" "g.155451505C>T" "" "" "" "ASH1L(NM_018489.3):c.1156G>A (p.(Asp386Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031344" "0" "30" "1" "155490657" "155490657" "subst" "0" "01804" "ASH1L_000174" "g.155490657A>T" "" "" "" "ASH1L(NM_018489.3):c.420+234T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031345" "0" "50" "1" "155491244" "155491244" "subst" "0" "01804" "ASH1L_000175" "g.155491244G>A" "" "" "" "ASH1L(NM_018489.3):c.67C>T (p.(Pro23Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031346" "0" "30" "1" "155500680" "155500680" "subst" "0" "01804" "ASH1L_000176" "g.155500680G>C" "" "" "" "ASH1L(NM_018489.3):c.-99-9271C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045595" "0" "30" "1" "155408846" "155408846" "subst" "0.00025641" "02326" "ASH1L_000177" "g.155408846G>A" "" "" "" "ASH1L(NM_018489.3):c.5100C>T (p.P1700=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045596" "0" "50" "1" "155451379" "155451379" "subst" "0" "02325" "ASH1L_000178" "g.155451379C>T" "" "" "" "ASH1L(NM_018489.3):c.1282G>A (p.A428T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050293" "0" "50" "1" "155317547" "155317547" "subst" "4.06326E-6" "01804" "ASH1L_000179" "g.155317547G>A" "" "" "" "ASH1L(NM_018489.3):c.7703C>T (p.(Ser2568Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050294" "0" "30" "1" "155324287" "155324287" "subst" "1.23727E-5" "01804" "ASH1L_000180" "g.155324287C>T" "" "" "" "ASH1L(NM_018489.3):c.7190G>A (p.(Arg2397Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001050295" "0" "50" "1" "155449392" "155449392" "subst" "4.06564E-6" "01804" "ASH1L_000181" "g.155449392G>A" "" "" "" "ASH1L(NM_018489.3):c.3269C>T (p.(Pro1090Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050296" "0" "50" "1" "155449777" "155449777" "subst" "0" "01804" "ASH1L_000182" "g.155449777G>A" "" "" "" "ASH1L(NM_018489.3):c.2884C>T (p.(Leu962Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050297" "0" "90" "1" "155450534" "155450534" "dup" "0" "01804" "ASH1L_000183" "g.155450534dup" "" "" "" "ASH1L(NM_018489.3):c.2134dup (p.(Arg712Lysfs*10))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001050298" "0" "50" "1" "155451733" "155451733" "subst" "0" "01804" "ASH1L_000184" "g.155451733T>C" "" "" "" "ASH1L(NM_018489.3):c.928A>G (p.(Thr310Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050299" "0" "50" "1" "155451888" "155451888" "subst" "0" "01804" "ASH1L_000185" "g.155451888C>T" "" "" "" "ASH1L(NM_018489.3):c.773G>A (p.(Gly258Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001063175" "0" "50" "1" "155308008" "155308008" "del" "0" "02325" "ASH1L_000186" "g.155308008del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001063176" "0" "70" "1" "155313465" "155313465" "subst" "0" "02325" "ASH1L_000187" "g.155313465G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001063177" "0" "50" "1" "155317494" "155317494" "subst" "8.12618E-6" "01804" "ASH1L_000188" "g.155317494C>T" "" "" "" "ASH1L(NM_018489.3):c.7756G>A (p.(Gly2586Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001063178" "0" "50" "1" "155322586" "155322586" "subst" "0" "02325" "ASH1L_000189" "g.155322586G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001063179" "0" "50" "1" "155449051" "155449051" "subst" "0" "02325" "ASH1L_000190" "g.155449051C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001063180" "0" "50" "1" "155451951" "155451951" "subst" "0" "01804" "ASH1L_000191" "g.155451951G>A" "" "" "" "ASH1L(NM_018489.3):c.710C>T (p.(Pro237Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes ASH1L ## Count = 204 "{{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}}" "0000259153" "00002975" "10" "5311" "0" "5311" "0" "c.5311A>G" "r.(?)" "p.(Thr1771Ala)" "" "0000263027" "00002975" "10" "5388" "0" "5388" "0" "c.5388G>A" "r.(?)" "p.(Lys1796=)" "" "0000321040" "00002975" "50" "7916" "0" "7916" "0" "c.7916A>C" "r.(?)" "p.(His2639Pro)" "" "0000321042" "00002975" "50" "6953" "0" "6953" "0" "c.6953A>G" "r.(?)" "p.(Lys2318Arg)" "" "0000321043" "00002975" "70" "6038" "0" "6041" "0" "c.6038_6041del" "r.(?)" "p.(Lys2013ArgfsTer25)" "" "0000321045" "00002975" "50" "2029" "0" "2029" "0" "c.2029A>G" "r.(?)" "p.(Ser677Gly)" "" "0000341987" "00002975" "70" "4675" "0" "4675" "0" "c.4675C>T" "r.(?)" "p.(Arg1559Ter)" "" "0000407963" "00002975" "00" "2170" "0" "2170" "0" "c.2170G>T" "r.(?)" "p.(Ala724Ser)" "" "0000503571" "00002975" "30" "16045" "0" "16045" "0" "c.*7150C>T" "r.(=)" "p.(=)" "" "0000503572" "00002975" "30" "8662" "0" "8662" "0" "c.8662G>A" "r.(?)" "p.(Val2888Ile)" "" "0000503573" "00002975" "70" "6826" "0" "6826" "0" "c.6826C>T" "r.(?)" "p.(Arg2276Ter)" "" "0000503575" "00002975" "30" "5439" "0" "5439" "0" "c.5439C>T" "r.(?)" "p.(Tyr1813=)" "" "0000503576" "00002975" "50" "4546" "0" "4546" "0" "c.4546C>T" "r.(?)" "p.(Arg1516Cys)" "" "0000503577" "00002975" "30" "2795" "0" "2795" "0" "c.2795G>A" "r.(?)" "p.(Ser932Asn)" "" "0000503578" "00002975" "50" "2590" "0" "2592" "0" "c.2590_2592del" "r.(?)" "p.(Glu864del)" "" "0000503579" "00002975" "30" "2550" "0" "2550" "0" "c.2550T>G" "r.(?)" "p.(Pro850=)" "" "0000503580" "00002975" "50" "1460" "0" "1460" "0" "c.1460T>A" "r.(?)" "p.(Ile487Asn)" "" "0000503581" "00002975" "30" "598" "0" "598" "0" "c.598C>T" "r.(?)" "p.(Arg200Trp)" "" "0000604852" "00002975" "30" "8747" "0" "8747" "0" "c.8747G>A" "r.(?)" "p.(Arg2916Gln)" "" "0000604854" "00002975" "50" "3823" "0" "3823" "0" "c.3823A>G" "r.(?)" "p.(Lys1275Glu)" "" "0000620407" "00002975" "70" "8171" "0" "8172" "0" "c.8171_8172del" "r.(?)" "p.(His2724ProfsTer10)" "" "0000653777" "00002975" "30" "6546" "0" "6546" "0" "c.6546G>A" "r.(?)" "p.(Arg2182=)" "" "0000675496" "00002975" "30" "8447" "0" "8447" "0" "c.8447A>G" "r.(?)" "p.(Lys2816Arg)" "" "0000675498" "00002975" "50" "7375" "0" "7375" "0" "c.7375C>T" "r.(?)" "p.(Arg2459Trp)" "" "0000675499" "00002975" "30" "6180" "0" "6180" "0" "c.6180A>T" "r.(?)" "p.(Leu2060=)" "" "0000683243" "00002975" "90" "6238" "0" "6238" "0" "c.6238G>A" "r.(?)" "p.(Val2080Ile)" "" "0000683244" "00002975" "90" "8854" "0" "8854" "0" "c.8854dup" "r.(?)" "p.(Arg2952Lysfs*19)" "" "0000683252" "00002975" "90" "3705" "0" "3705" "0" "c.3705del" "r.(?)" "p.(Glu1236Lysfs*6)" "" "0000683253" "00002975" "90" "7764" "0" "7768" "0" "c.7764_7768dup" "r.(?)" "p.(Asp2590Alafs*7)" "" "0000683254" "00002975" "90" "6427" "0" "6427" "0" "c.6427G>T" "r.(?)" "p.(Glu2143*)" "" "0000683255" "00002975" "70" "8356" "0" "8356" "0" "c.8356G>C" "r.(?)" "p.(Ala2786Pro)" "" "0000683275" "00002975" "70" "5104" "0" "5104" "0" "c.5104C>T" "r.(?)" "p.(Arg1702*)" "" "0000694197" "00002975" "70" "3033" "0" "3033" "0" "c.3033del" "r.(?)" "p.(Val1014Cysfs*24)" "" "0000694198" "00002975" "70" "7261" "0" "7261" "0" "c.7261C>T" "r.(?)" "p.(Arg2421*)" "" "0000694199" "00002975" "70" "0" "0" "0" "0" "c.-480_*2398{0}" "r.0" "p.0" "" "0000694809" "00002975" "90" "7261" "0" "7261" "0" "c.7261C>T" "r.(?)" "p.(Arg2421*)" "" "0000694810" "00002975" "50" "5474" "0" "5474" "0" "c.5474A>C" "r.(?)" "p.(His1825Pro)" "" "0000694811" "00002975" "50" "5260" "0" "5260" "0" "c.5260A>T" "r.(?)" "p.(Ser1754Cys)" "" "0000694812" "00002975" "30" "4940" "0" "4940" "0" "c.4940A>G" "r.(?)" "p.(Lys1647Arg)" "" "0000694813" "00002975" "90" "3033" "0" "3033" "0" "c.3033del" "r.(?)" "p.(Val1014Cysfs*24)" "" "0000694814" "00002975" "50" "1074" "0" "1074" "0" "c.1074G>T" "r.(?)" "p.(Lys358Asn)" "" "0000694995" "00002975" "90" "" "0" "" "0" "c.-480_*2399{0}" "r.0" "p.0" "" "0000694996" "00002975" "90" "" "0" "" "0" "c.-480_*2399{0}" "r.0" "p.0" "" "0000694997" "00002975" "90" "" "0" "" "0" "c.-480_*2399{0}" "r.0" "p.0" "" "0000694998" "00002975" "90" "" "0" "" "0" "c.-480_*2399{0}" "r.0" "p.0" "" "0000703909" "00002975" "90" "0" "0" "0" "0" "c.-480_*2399{0}" "r.0" "p.0" "_1_28_" "0000703910" "00002975" "90" "2422" "0" "2423" "0" "c.2422_2423delinsT" "r.(?)" "p.(Lys808Tyrfs*40)" "" "0000703912" "00002975" "90" "4039" "0" "4043" "0" "c.4039_4043del" "r.(?)" "p.(Lys1347Glufs*7)" "" "0000716881" "00002975" "50" "5414" "0" "5414" "0" "c.5414G>T" "r.(?)" "p.(Arg1805Leu)" "" "0000716882" "00002975" "50" "5288" "0" "5288" "0" "c.5288A>G" "r.(?)" "p.(Asp1763Gly)" "" "0000716883" "00002975" "70" "3445" "0" "3446" "0" "c.3445_3446del" "r.(?)" "p.(Leu1149Cysfs*27)" "" "0000716884" "00002975" "30" "3319" "0" "3319" "0" "c.3319A>G" "r.(?)" "p.(Ile1107Val)" "" "0000716885" "00002975" "30" "2170" "0" "2170" "0" "c.2170G>T" "r.(?)" "p.(Ala724Ser)" "" "0000798818" "00002975" "30" "6720" "0" "6720" "0" "c.6720T>C" "r.(?)" "p.(Tyr2240=)" "" "0000798819" "00002975" "30" "5346" "0" "5346" "0" "c.5346A>G" "r.(?)" "p.(Leu1782=)" "" "0000798820" "00002975" "50" "3229" "0" "3229" "0" "c.3229G>A" "r.(?)" "p.(Ala1077Thr)" "" "0000798821" "00002975" "50" "1373" "0" "1373" "0" "c.1373A>G" "r.(?)" "p.(Asp458Gly)" "" "0000841306" "00002975" "90" "2678" "0" "2678" "0" "c.2678dup" "r.(?)" "p.(Lys894*)" "" "0000841308" "00002975" "70" "102" "0" "102" "0" "c.102G>C" "r.(?)" "p.(Lys34Asn)" "" "0000841309" "00002975" "70" "175" "0" "175" "0" "c.175G>A" "r.(?)" "p.(Glu59Lys)" "" "0000841310" "00002975" "70" "221" "0" "221" "0" "c.221C>T" "r.(?)" "p.(Ser74Leu)" "" "0000841311" "00002975" "70" "295" "0" "295" "0" "c.295C>A" "r.(?)" "p.(Pro99Thr)" "" "0000841312" "00002975" "70" "491" "0" "491" "0" "c.491G>A" "r.(?)" "p.(Arg164His)" "" "0000841313" "00002975" "70" "503" "0" "503" "0" "c.503A>T" "r.(?)" "p.(Gln168Leu)" "" "0000841314" "00002975" "70" "557" "0" "557" "0" "c.557C>T" "r.(?)" "p.(Ala186Val)" "" "0000841315" "00002975" "70" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Asp203Asn)" "" "0000841316" "00002975" "70" "902" "0" "902" "0" "c.902A>G" "r.(?)" "p.(Asn301Ser)" "" "0000841317" "00002975" "70" "1516" "0" "1517" "0" "c.1516_1517del" "r.(?)" "p.(Phe506LeufsTer4)" "" "0000841318" "00002975" "70" "1657" "0" "1657" "0" "c.1657A>G" "r.(?)" "p.(Ser553Gly)" "" "0000841319" "00002975" "70" "1690" "0" "1690" "0" "c.1690G>A" "r.(?)" "p.(Val564Ile)" "" "0000841320" "00002975" "70" "1919" "0" "1919" "0" "c.1919A>G" "r.(?)" "p.(His640Arg)" "" "0000841321" "00002975" "70" "2186" "0" "2186" "0" "c.2186G>A" "r.(?)" "p.(Arg729Gln)" "" "0000841322" "00002975" "70" "2192" "0" "2192" "0" "c.2192C>G" "r.(?)" "p.(Pro731Arg)" "" "0000841323" "00002975" "70" "2254" "0" "2254" "0" "c.2254A>G" "r.(?)" "p.(Asn752Asp)" "" "0000841324" "00002975" "70" "2473" "0" "2473" "0" "c.2473A>G" "r.(?)" "p.(Lys825Glu)" "" "0000841325" "00002975" "70" "3028" "0" "3028" "0" "c.3028A>G" "r.(?)" "p.(Asn1010Asp)" "" "0000841326" "00002975" "70" "3040" "0" "3040" "0" "c.3040G>A" "r.(?)" "p.(Val1014Met)" "" "0000841327" "00002975" "70" "3319" "0" "3319" "0" "c.3319A>G" "r.(?)" "p.(Ile1107Val)" "" "0000841328" "00002975" "70" "3319" "0" "3319" "0" "c.3319A>G" "r.(?)" "p.(Ile1107Val)" "" "0000841329" "00002975" "70" "3479" "0" "3479" "0" "c.3479G>A" "r.(?)" "p.(Arg1160Gln)" "" "0000841330" "00002975" "70" "3491" "0" "3491" "0" "c.3491C>T" "r.(?)" "p.(Pro1164Leu)" "" "0000841331" "00002975" "70" "3744" "0" "3745" "0" "c.3744_3745del" "r.(?)" "p.(His1248GlnfsTer5)" "" "0000841332" "00002975" "70" "3744" "0" "3745" "0" "c.3744_3745del" "r.(?)" "p.(His1248GlnfsTer5)" "" "0000841333" "00002975" "70" "3744" "0" "3745" "0" "c.3744_3745del" "r.(?)" "p.(His1248GlnfsTer5)" "" "0000841334" "00002975" "70" "4039" "0" "4043" "0" "c.4039_4043del" "r.(?)" "p.(Lys1347GlufsTer7)" "" "0000841335" "00002975" "70" "4096" "0" "4096" "0" "c.4096A>G" "r.(?)" "p.(Met1366Val)" "" "0000841336" "00002975" "70" "4552" "0" "4552" "0" "c.4552A>G" "r.(?)" "p.(Arg1518Gly)" "" "0000841337" "00002975" "70" "4567" "0" "4567" "0" "c.4567G>A" "r.(?)" "p.(Ala1523Thr)" "" "0000841338" "00002975" "70" "4583" "0" "4583" "0" "c.4583A>G" "r.(?)" "p.(Tyr1528Cys)" "" "0000841339" "00002975" "70" "4634" "0" "4634" "0" "c.4634C>T" "r.(?)" "p.(Pro1545Leu)" "" "0000841340" "00002975" "70" "4656" "0" "4659" "0" "c.4656_4659del" "r.(?)" "p.(Glu1553AsnfsTer58)" "" "0000841341" "00002975" "70" "4718" "0" "4718" "0" "c.4718C>T" "r.(?)" "p.(Thr1573Ile)" "" "0000841342" "00002975" "70" "4847" "0" "4847" "0" "c.4847T>C" "r.(?)" "p.(Val1616Ala)" "" "0000841343" "00002975" "70" "4985" "0" "4985" "0" "c.4985G>A" "r.(?)" "p.(Gly1662Asp)" "" "0000841344" "00002975" "70" "5251" "0" "5251" "0" "c.5251C>T" "r.(?)" "p.(Arg1751Cys)" "" "0000841345" "00002975" "70" "5270" "0" "5270" "0" "c.5270G>A" "r.(?)" "p.(Arg1757Gln)" "" "0000841346" "00002975" "70" "5638" "0" "5639" "0" "c.5638_5639del" "r.(?)" "p.(Asp1880ArgfsTer11)" "" "0000841347" "00002975" "70" "5680" "0" "5680" "0" "c.5680A>G" "r.(?)" "p.(Thr1894Ala)" "" "0000841348" "00002975" "70" "5744" "0" "5744" "0" "c.5744A>G" "r.(?)" "p.(Lys1915Arg)" "" "0000841349" "00002975" "70" "6427" "0" "6427" "0" "c.6427G>T" "r.(?)" "p.(Glu2143Ter)" "" "0000841350" "00002975" "70" "6427" "0" "6427" "0" "c.6427G>T" "r.(?)" "p.(Glu2143Ter)" "" "0000841351" "00002975" "70" "7046" "0" "7046" "0" "c.7046A>G" "r.(?)" "p.(Asn2349Ser)" "" "0000841352" "00002975" "70" "7058" "0" "7058" "0" "c.7058A>C" "r.(?)" "p.(Asn2353Thr)" "" "0000841353" "00002975" "70" "7172" "0" "7172" "0" "c.7172G>A" "r.(?)" "p.(Arg2391His)" "" "0000841354" "00002975" "70" "7189" "0" "7189" "0" "c.7189C>T" "r.(?)" "p.(Arg2397Ter)" "" "0000841355" "00002975" "70" "7189" "0" "7189" "0" "c.7189C>T" "r.(?)" "p.(Arg2397Ter)" "" "0000841356" "00002975" "70" "7261" "0" "7261" "0" "c.7261C>T" "r.(?)" "p.(Arg2421Ter)" "" "0000841357" "00002975" "70" "7764" "0" "7767" "0" "c.7764_7767dup" "r.(?)" "p.(Asp2590GlnfsTer3)" "" "0000841358" "00002975" "70" "8342" "0" "8342" "0" "c.8342G>A" "r.(?)" "p.(Arg2781Gln)" "" "0000841359" "00002975" "70" "8470" "0" "8470" "0" "c.8470G>A" "r.(?)" "p.(Val2824Ile)" "" "0000841360" "00002975" "70" "8641" "0" "8641" "0" "c.8641C>T" "r.(?)" "p.(Arg2881Trp)" "" "0000841361" "00002975" "70" "8887" "0" "8887" "0" "c.8887C>T" "r.(?)" "p.(Arg2963Ter)" "" "0000848326" "00002975" "50" "8375" "0" "8375" "0" "c.8375T>G" "r.(?)" "p.(Ile2792Ser)" "" "0000848327" "00002975" "50" "8282" "0" "8282" "0" "c.8282C>T" "r.(?)" "p.(Thr2761Met)" "" "0000848328" "00002975" "30" "6739" "0" "6739" "0" "c.6739G>T" "r.(?)" "p.(Ala2247Ser)" "" "0000848329" "00002975" "30" "3783" "0" "3783" "0" "c.3783C>T" "r.(?)" "p.(Ser1261=)" "" "0000848330" "00002975" "30" "3169" "0" "3169" "0" "c.3169A>C" "r.(?)" "p.(Thr1057Pro)" "" "0000857042" "00002975" "50" "7667" "0" "7667" "0" "c.7667C>T" "r.(?)" "p.(Thr2556Ile)" "" "0000857043" "00002975" "30" "3594" "0" "3594" "0" "c.3594C>T" "r.(?)" "p.(Pro1198=)" "" "0000857044" "00002975" "50" "3503" "0" "3503" "0" "c.3503C>A" "r.(?)" "p.(Pro1168Gln)" "" "0000857045" "00002975" "30" "3319" "0" "3319" "0" "c.3319A>G" "r.(?)" "p.(Ile1107Val)" "" "0000882812" "00002975" "30" "6917" "0" "6917" "0" "c.6917G>A" "r.(?)" "p.(Arg2306Gln)" "" "0000882813" "00002975" "90" "5785" "0" "5785" "0" "c.5785C>T" "r.(?)" "p.(Gln1929*)" "" "0000882814" "00002975" "30" "5175" "0" "5175" "0" "c.5175G>A" "r.(?)" "p.(Glu1725=)" "" "0000882815" "00002975" "70" "4816" "0" "4816" "0" "c.4816del" "r.(?)" "p.(Leu1606Phefs*6)" "" "0000882816" "00002975" "30" "4793" "0" "4793" "0" "c.4793C>T" "r.(?)" "p.(Ala1598Val)" "" "0000882817" "00002975" "70" "588" "0" "588" "0" "c.588del" "r.(?)" "p.(Gly198Valfs*7)" "" "0000910791" "00002975" "70" "6687" "-1" "6687" "-1" "c.6687-1G>A" "r.spl?" "p.?" "" "0000922966" "00002975" "50" "3490" "0" "3492" "0" "c.3490_3492del" "r.(?)" "p.(Pro1164del)" "" "0000928024" "00002975" "50" "593" "0" "593" "0" "c.593G>T" "r.(?)" "p.(Gly198Val)" "" "0000946990" "00002975" "90" "4048" "0" "4048" "0" "c.4048del" "r.(?)" "p.(Arg1350Glufs*7)" "" "0000946991" "00002975" "70" "2605" "0" "2605" "0" "c.2605C>T" "r.(?)" "p.(Gln869*)" "" "0000960547" "00002975" "50" "3224" "0" "3224" "0" "c.3224A>G" "r.(?)" "p.(Gln1075Arg)" "" "0000960549" "00002975" "70" "581" "0" "582" "0" "c.581_582dup" "r.(?)" "p.(Thr195Leufs*11)" "" "0000973367" "00002975" "50" "8558" "0" "8558" "0" "c.8558A>G" "r.(?)" "p.(Asp2853Gly)" "" "0000973368" "00002975" "30" "7976" "0" "7976" "0" "c.7976G>A" "r.(?)" "p.(Arg2659His)" "" "0000973369" "00002975" "30" "7046" "0" "7046" "0" "c.7046A>G" "r.(?)" "p.(Asn2349Ser)" "" "0000973370" "00002975" "30" "5131" "0" "5131" "0" "c.5131G>C" "r.(?)" "p.(Asp1711His)" "" "0000973371" "00002975" "30" "5087" "-6177" "5087" "-6177" "c.5087-6177C>T" "r.(=)" "p.(=)" "" "0000973372" "00002975" "50" "4343" "0" "4343" "0" "c.4343G>A" "r.(?)" "p.(Arg1448Gln)" "" "0000973373" "00002975" "50" "2394" "0" "2394" "0" "c.2394A>T" "r.(?)" "p.(Lys798Asn)" "" "0000973374" "00002975" "50" "2321" "0" "2321" "0" "c.2321T>C" "r.(?)" "p.(Phe774Ser)" "" "0000985378" "00002975" "70" "5829" "-8488" "6103" "1882" "c.5829-8488_6103+1882del" "r.?" "p.?" "5i_7i" "0000990388" "00002975" "30" "8303" "0" "8303" "0" "c.8303A>G" "r.(?)" "p.(Lys2768Arg)" "" "0000990389" "00002975" "50" "7925" "0" "7925" "0" "c.7925A>C" "r.(?)" "p.(Gln2642Pro)" "" "0000990390" "00002975" "50" "7504" "0" "7504" "0" "c.7504A>T" "r.(?)" "p.(Thr2502Ser)" "" "0000990391" "00002975" "70" "7189" "0" "7189" "0" "c.7189C>T" "r.(?)" "p.(Arg2397*)" "" "0000990392" "00002975" "50" "6430" "0" "6430" "0" "c.6430C>T" "r.(?)" "p.(Arg2144*)" "" "0000990393" "00002975" "70" "5554" "0" "5554" "0" "c.5554C>T" "r.(?)" "p.(Arg1852*)" "" "0000990394" "00002975" "30" "5368" "0" "5368" "0" "c.5368T>C" "r.(?)" "p.(Cys1790Arg)" "" "0000990395" "00002975" "30" "5337" "0" "5337" "0" "c.5337C>G" "r.(?)" "p.(Ile1779Met)" "" "0000990396" "00002975" "30" "5283" "0" "5283" "0" "c.5283A>C" "r.(?)" "p.(Lys1761Asn)" "" "0000990397" "00002975" "50" "5189" "0" "5189" "0" "c.5189T>C" "r.(?)" "p.(Met1730Thr)" "" "0000990398" "00002975" "50" "5092" "0" "5092" "0" "c.5092G>A" "r.(?)" "p.(Gly1698Arg)" "" "0000990399" "00002975" "50" "4695" "0" "4695" "0" "c.4695T>G" "r.(?)" "p.(Ser1565Arg)" "" "0000990400" "00002975" "30" "4589" "0" "4589" "0" "c.4589A>T" "r.(?)" "p.(His1530Leu)" "" "0000990401" "00002975" "50" "4112" "0" "4112" "0" "c.4112T>A" "r.(?)" "p.(Phe1371Tyr)" "" "0000990402" "00002975" "50" "4036" "0" "4036" "0" "c.4036T>G" "r.(?)" "p.(Leu1346Val)" "" "0000990403" "00002975" "50" "3983" "0" "3983" "0" "c.3983A>G" "r.(?)" "p.(Tyr1328Cys)" "" "0000990404" "00002975" "30" "3319" "0" "3319" "0" "c.3319A>G" "r.(?)" "p.(Ile1107Val)" "" "0000990405" "00002975" "50" "2567" "0" "2567" "0" "c.2567C>G" "r.(?)" "p.(Ser856Cys)" "" "0000990406" "00002975" "30" "2377" "0" "2377" "0" "c.2377T>G" "r.(?)" "p.(Leu793Val)" "" "0000990407" "00002975" "30" "1743" "0" "1743" "0" "c.1743T>G" "r.(?)" "p.(Asn581Lys)" "" "0000990408" "00002975" "30" "1451" "0" "1451" "0" "c.1451G>A" "r.(?)" "p.(Arg484Gln)" "" "0000990409" "00002975" "50" "1411" "0" "1411" "0" "c.1411C>T" "r.(?)" "p.(Arg471Trp)" "" "0000990410" "00002975" "30" "692" "0" "692" "0" "c.692A>G" "r.(?)" "p.(Lys231Arg)" "" "0000990411" "00002975" "30" "305" "0" "305" "0" "c.305A>C" "r.(?)" "p.(Asn102Thr)" "" "0000990412" "00002975" "30" "80" "0" "80" "0" "c.80G>A" "r.(?)" "p.(Ser27Asn)" "" "0001013216" "00002975" "30" "6333" "-5" "6333" "-5" "c.6333-5dup" "r.spl?" "p.?" "" "0001031326" "00002975" "30" "8459" "0" "8459" "0" "c.8459C>T" "r.(?)" "p.(Ser2820Leu)" "" "0001031327" "00002975" "30" "7367" "-1101" "7367" "-1101" "c.7367-1101G>A" "r.(=)" "p.(=)" "" "0001031328" "00002975" "50" "7166" "0" "7166" "0" "c.7166A>G" "r.(?)" "p.(Tyr2389Cys)" "" "0001031329" "00002975" "30" "7055" "234" "7055" "237" "c.7055+234_7055+237del" "r.(=)" "p.(=)" "" "0001031330" "00002975" "30" "6687" "-326" "6687" "-326" "c.6687-326C>T" "r.(=)" "p.(=)" "" "0001031331" "00002975" "30" "6686" "562" "6686" "562" "c.6686+562del" "r.(=)" "p.(=)" "" "0001031332" "00002975" "30" "6333" "-363" "6333" "-363" "c.6333-363T>C" "r.(=)" "p.(=)" "" "0001031333" "00002975" "50" "6218" "0" "6218" "0" "c.6218G>A" "r.(?)" "p.(Arg2073His)" "" "0001031334" "00002975" "30" "6103" "2496" "6103" "2496" "c.6103+2496G>A" "r.(=)" "p.(=)" "" "0001031335" "00002975" "30" "5829" "-520" "5829" "-520" "c.5829-520A>G" "r.(=)" "p.(=)" "" "0001031336" "00002975" "30" "5828" "5446" "5828" "5446" "c.5828+5446C>T" "r.(=)" "p.(=)" "" "0001031337" "00002975" "30" "5260" "0" "5260" "0" "c.5260A>T" "r.(?)" "p.(Ser1754Cys)" "" "0001031339" "00002975" "50" "3989" "0" "3989" "0" "c.3989A>G" "r.(?)" "p.(His1330Arg)" "" "0001031340" "00002975" "30" "3856" "0" "3856" "0" "c.3856G>A" "r.(?)" "p.(Asp1286Asn)" "" "0001031341" "00002975" "50" "3341" "0" "3341" "0" "c.3341C>A" "r.(?)" "p.(Thr1114Asn)" "" "0001031342" "00002975" "50" "2632" "0" "2632" "0" "c.2632A>G" "r.(?)" "p.(Lys878Glu)" "" "0001031343" "00002975" "50" "1156" "0" "1156" "0" "c.1156G>A" "r.(?)" "p.(Asp386Asn)" "" "0001031344" "00002975" "30" "420" "234" "420" "234" "c.420+234T>A" "r.(=)" "p.(=)" "" "0001031345" "00002975" "50" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Pro23Ser)" "" "0001031346" "00002975" "30" "-99" "-9271" "-99" "-9271" "c.-99-9271C>G" "r.(=)" "p.(=)" "" "0001045595" "00002975" "30" "5100" "0" "5100" "0" "c.5100C>T" "r.(?)" "p.(=)" "" "0001045596" "00002975" "50" "1282" "0" "1282" "0" "c.1282G>A" "r.(?)" "p.(Ala428Thr)" "" "0001050293" "00002975" "50" "7703" "0" "7703" "0" "c.7703C>T" "r.(?)" "p.(Ser2568Phe)" "" "0001050294" "00002975" "30" "7190" "0" "7190" "0" "c.7190G>A" "r.(?)" "p.(Arg2397Gln)" "" "0001050295" "00002975" "50" "3269" "0" "3269" "0" "c.3269C>T" "r.(?)" "p.(Pro1090Leu)" "" "0001050296" "00002975" "50" "2884" "0" "2884" "0" "c.2884C>T" "r.(?)" "p.(Leu962Phe)" "" "0001050297" "00002975" "90" "2134" "0" "2134" "0" "c.2134dup" "r.(?)" "p.(Arg712Lysfs*10)" "" "0001050298" "00002975" "50" "928" "0" "928" "0" "c.928A>G" "r.(?)" "p.(Thr310Ala)" "" "0001050299" "00002975" "50" "773" "0" "773" "0" "c.773G>A" "r.(?)" "p.(Gly258Asp)" "" "0001063175" "00002975" "50" "8683" "0" "8683" "0" "c.8683del" "r.(?)" "p.(Thr2895Glnfs*44)" "" "0001063176" "00002975" "70" "8050" "0" "8050" "0" "c.8050C>T" "r.(?)" "p.(Arg2684*)" "" "0001063177" "00002975" "50" "7756" "0" "7756" "0" "c.7756G>A" "r.(?)" "p.(Gly2586Ser)" "" "0001063178" "00002975" "50" "7277" "0" "7277" "0" "c.7277C>T" "r.(?)" "p.(Ala2426Val)" "" "0001063179" "00002975" "50" "3610" "0" "3610" "0" "c.3610G>C" "r.(?)" "p.(Gly1204Arg)" "" "0001063180" "00002975" "50" "710" "0" "710" "0" "c.710C>T" "r.(?)" "p.(Pro237Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 80 "{{screeningid}}" "{{variantid}}" "0000184025" "0000407963" "0000308812" "0000683243" "0000308813" "0000683244" "0000308820" "0000683252" "0000308821" "0000683253" "0000308822" "0000683254" "0000308823" "0000683255" "0000308841" "0000683275" "0000312596" "0000694197" "0000312597" "0000694198" "0000312598" "0000694199" "0000313075" "0000694809" "0000313076" "0000694810" "0000313077" "0000694811" "0000313078" "0000694812" "0000313079" "0000694813" "0000313080" "0000694814" "0000313261" "0000694995" "0000313262" "0000694996" "0000313263" "0000694997" "0000313264" "0000694998" "0000321111" "0000703909" "0000321112" "0000703910" "0000321114" "0000703912" "0000405230" "0000841306" "0000405232" "0000841308" "0000405233" "0000841309" "0000405234" "0000841310" "0000405235" "0000841311" "0000405236" "0000841312" "0000405237" "0000841313" "0000405238" "0000841314" "0000405239" "0000841315" "0000405240" "0000841316" "0000405241" "0000841317" "0000405242" "0000841318" "0000405243" "0000841319" "0000405244" "0000841320" "0000405245" "0000841321" "0000405246" "0000841322" "0000405247" "0000841323" "0000405248" "0000841324" "0000405249" "0000841325" "0000405250" "0000841326" "0000405251" "0000841327" "0000405252" "0000841328" "0000405253" "0000841329" "0000405254" "0000841330" "0000405255" "0000841331" "0000405256" "0000841332" "0000405257" "0000841333" "0000405258" "0000841334" "0000405259" "0000841335" "0000405260" "0000841336" "0000405261" "0000841337" "0000405262" "0000841338" "0000405263" "0000841339" "0000405264" "0000841340" "0000405265" "0000841341" "0000405266" "0000841342" "0000405267" "0000841343" "0000405268" "0000841344" "0000405269" "0000841345" "0000405270" "0000841346" "0000405271" "0000841347" "0000405272" "0000841348" "0000405273" "0000841349" "0000405274" "0000841350" "0000405275" "0000841351" "0000405276" "0000841352" "0000405277" "0000841353" "0000405278" "0000841354" "0000405279" "0000841355" "0000405280" "0000841356" "0000405281" "0000841357" "0000405282" "0000841358" "0000405283" "0000841359" "0000405284" "0000841360" "0000405285" "0000841361" "0000451474" "0000985378"