### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ASXL1) # 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}}" "ASXL1" "additional sex combs like 1 (Drosophila)" "20" "q11" "unknown" "NG_027868.1" "UD_132119102719" "" "https://www.LOVD.nl/ASXL1" "" "1" "18318" "171023" "612990" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/ASXL1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2011-08-04 00:00:00" "00006" "2017-06-29 15:42:26" "00000" "2026-01-20 18:57:21" ## 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}}" "00003005" "ASXL1" "transcript variant 1" "001" "NM_015338.5" "" "NP_056153.2" "" "" "" "-432" "6607" "4626" "30946147" "31027122" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00132" "MDS" "myelodysplastic syndrome (MDS)" "SMo" "614286" "" "" "" "00006" "2013-05-17 15:26:22" "00006" "2024-05-24 16:19:35" "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" "01040" "BOPS" "Bohring-Opitz syndrome (BOPS)" "AD" "605039" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "ASXL1" "00132" "ASXL1" "00139" "ASXL1" "01040" ## Individuals ## Do not remove or alter this header ## ## Count = 25 "{{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}}" "00117884" "" "" "" "1" "" "00002" "{PMID:Hoischen 2011:21706002}, {PMID:Hastings 2011:21368916}" "" "F" "" "" "" "0" "" "" "" "" "00117885" "" "" "" "1" "" "00002" "{PMID:Hoischen 2011:21706002}" "" "F" "" "" "" "0" "" "" "" "" "00117886" "" "" "" "1" "" "00002" "{PMID:Hoischen 2011:21706002}, {PMID:Hastings 2011:21368916}" "" "M" "" "" "" "0" "" "" "" "" "00117887" "" "" "" "1" "" "00002" "{PMID:Hoischen 2011:21706002}, {PMID:Hastings 2011:21368916}" "" "F" "" "" "" "0" "" "" "" "" "00117888" "" "" "" "1" "" "00002" "{PMID:Hoischen 2011:21706002}" "" "F" "" "" "" "0" "" "" "" "" "00117889" "" "" "" "1" "" "00002" "{PMID:Hoischen 2011:21706002}, {PMID:Hastings 2011:21368916}" "" "F" "" "" "" "0" "" "" "" "" "00117890" "" "" "" "1" "" "00002" "{PMID:Hoischen 2011:21706002}, {PMID:Hastings 2011:21368916}" "" "F" "" "" "" "0" "" "" "" "" "00163907" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00180149" "" "" "" "1" "" "00006" "{PMID:Tumienė 2018:29286531}" "" "" "" "(Slovenia)" "" "0" "" "" "" "29286531-Pat01" "00207345" "" "" "" "1" "" "03112" "" "" "M" "" "" "" "0" "" "" "" "" "00207348" "" "" "" "1" "" "03112" "" "" "M" "" "Italy" "" "0" "" "" "" "" "00292905" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292906" "" "" "" "13" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292907" "" "" "" "17" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00302963" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat8" "00302965" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat10" "00307718" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "F" "" "" "" "0" "" "" "" "UK10K_FINDWGA5411037" "00375661" "" "" "" "1" "" "00006" "{PMID:Srivastava 2014:25131622}" "" "" "" "United States" "" "0" "" "" "" "Pat69" "00436295" "" "" "" "1" "" "00006" "{PMID:Yuan 2019:30158690}" "2-generation family, 1 affected, unaffected; non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat3" "00440373" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED2241.1" "00466058" "" "" "" "1" "" "04221" "Unpublished" "healthy mother without the presence of the variant, father not available for molecular testing" "F" "no" "(Mexico)" "" "" "" "" "Mexican" "ASXL1_01" "00468653" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00468654" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00468655" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00468656" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 25 "{{individualid}}" "{{diseaseid}}" "00117884" "01040" "00117885" "01040" "00117886" "01040" "00117887" "01040" "00117888" "01040" "00117889" "01040" "00117890" "01040" "00163907" "00198" "00180149" "00198" "00207345" "01040" "00207348" "01040" "00292905" "00198" "00292906" "00198" "00292907" "00198" "00302963" "05521" "00302965" "05521" "00307718" "00139" "00375661" "00198" "00436295" "00198" "00440373" "00198" "00466058" "01040" "00468653" "00198" "00468654" "00198" "00468655" "00198" "00468656" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00132, 00139, 00198, 01040, 05521 ## Count = 12 "{{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}}" "0000129019" "00198" "00163907" "01807" "Unknown" "" "HP:0001263 (Global developmental delay)" "" "" "" "" "" "" "" "" "" "" "" "0000142603" "00198" "00180149" "00006" "Familial, autosomal dominant" "" "Epilepsy (HP:0001250), generalized tonic-clonic seizures (HP:0025190), intrauterine growth retardation (HP:0001511), severe failure to thrive (HP:0001525), microcephaly (HP:0000252), severe global developmental delay (HP:0011344), atrial septum defect (HP:0001631), sensorineural hearing impairment (HP:0000407), myopia (HP:0000545), facial dysmorphism: bitemporal narrowing (HP:0000341), sparse hair (HP:0008070)." "" "" "" "" "" "" "" "" "BOPS" "epilepsy or seizures associated with neurodevelopmental disorders and/or congenital malformations" "" "0000230046" "05521" "00302963" "00006" "Isolated (sporadic)" "" "Focal epilepsy, unclassified; age onset unknown" "" "" "" "" "" "" "" "" "" "seizures" "" "0000230048" "05521" "00302965" "00006" "Isolated (sporadic)" "" "Focal epilepsy, unclassified; age onset unknown" "" "" "" "" "" "" "" "" "" "seizures" "" "0000270874" "00198" "00375661" "00006" "Isolated (sporadic)" "" "intellectual disability/developmental delay; decreased muscle bulk, broad-based gait; hyper-reflexia; self-injurious behavior; MRI brain normal" "" "7y" "" "" "" "" "" "" "" "" "" "0000326475" "00198" "00436295" "00006" "Isolated (sporadic)" "4y2m" "synophrys; depressed broad nasal bridge,high palate,widely spaced teeth; developmental delay, intellectual disability; autistic like, aggression; seizures, hirsutism, major eye malformation; no failure to thrive; weight 88th, length 11th, OFC 25-50th; no short stature; no microcephaly; motor delay; speech delay; autism spectrum disorder; behavioral problems; seizures; no hypertonia; hypotonia; no brachycephaly; no long curly eyelashes; no ptosis; no hypertelorism; no anteverted nares; depressed/broad nasal bridge; no bulbous nasal tip; no low-set ears; no microtia; no dysmorphic ears; no long/smooth philtrum; high arched palate; no thin upper lip; no downturned mouth; no cleft lip/palate; widely spaced teeth; no late-erupting teeth; no micrognathia; no short neck; no hypoplastic nails; hirsutism; no hairline; no cutis marmorata; no myopia; strabismus , exotropia; no hearing loss; no low-pitched, growling cry in infancy; no congenital heart defect; no congenital diaphragmatic hernia; no pulmonary hypoplasia; no recurrent infections; no small nipples; no gastroesophageal reflux; no scoliosis; no rib fusion; no vertebral anomalies; no limited elbow extension; no radioulnar abnormalities; no micromelia; no phocomelia; no brachydactyly; no fifth finger clinodactyly; no single transverse palmar crease; no 2-3 toe syndactyly; MRI brain moderately small optic nerves and chiasm, mild diffuse thinning of the corpus callosum, mild prominence of the left lateral ventricle, likely reflecting mild left-sided periventricular white matter volume loss or hypogenesis. 4. Mildly small pons.; ECG normal" "" "" "" "" "" "" "" "" "cohesinopathy" "" "" "0000330283" "00198" "00440373" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Bohring-Opitz syndrome (MIM #605039)" "" "" "0000351443" "01040" "00466058" "04221" "Unknown" "08y" "hirsutism, broad forehead, arched eyebrows, synophrys, exophthalmos, prominent and wide philtrum, thick lips, dental malalignment and retrognathia" "00y08m" "16y" "short stature (HP:0004322), intellectual disability (HP:0010864), synophrys (HP:0000664), exophthalmos (HP:0000520)" "" "" "" "" "" "Bohring-Opitz syndrome" "short stature, intellectual disability, dysmorphism" "" "0000353806" "00198" "00468653" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" "" "0000353807" "00198" "00468654" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" "0000353808" "00198" "00468655" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" "" "0000353809" "00198" "00468656" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" "" ## Screenings ## Do not remove or alter this header ## ## Count = 25 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000118347" "00117884" "1" "00002" "00006" "2011-08-05 13:48:00" "" "" "SEQ-NG-S" "DNA" "" "" "0000118348" "00117885" "1" "00002" "00006" "2011-08-05 13:48:00" "" "" "SEQ" "DNA" "" "" "0000118349" "00117886" "1" "00002" "00006" "2011-08-05 13:48:00" "" "" "SEQ" "DNA" "" "" "0000118350" "00117887" "1" "00002" "00006" "2011-08-05 13:48:00" "" "" "SEQ" "DNA" "" "" "0000118351" "00117888" "1" "00002" "00006" "2011-08-05 13:48:00" "" "" "SEQ" "DNA" "" "" "0000118352" "00117889" "1" "00002" "00006" "2011-08-05 13:48:00" "" "" "SEQ-NG-S" "DNA" "" "" "0000118353" "00117890" "1" "00002" "00006" "2011-08-05 13:48:00" "" "" "SEQ-NG-S" "DNA" "" "" "0000164771" "00163907" "1" "01807" "01807" "2018-04-23 08:51:04" "" "" "SEQ" "DNA" "" "" "0000181052" "00180149" "1" "00006" "00006" "2018-08-24 19:40:22" "" "" "SEQ-NG" "DNA" "" "WES" "0000208382" "00207345" "1" "03112" "03112" "2018-11-20 10:09:25" "" "" "SEQ-NG" "RNA" "" "" "0000208385" "00207348" "1" "03112" "03112" "2018-11-20 10:52:06" "" "" "SEQ-NG" "RNA" "" "" "0000294073" "00292905" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294074" "00292906" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294075" "00292907" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000304088" "00302963" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000304090" "00302965" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000308858" "00307718" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000376858" "00375661" "1" "00006" "00006" "2021-06-14 20:30:20" "" "" "SEQ-NG" "DNA" "" "WES" "0000437778" "00436295" "1" "00006" "00006" "2023-08-31 23:02:18" "" "" "SEQ-NG" "DNA" "" "" "0000441858" "00440373" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000467712" "00466058" "1" "04221" "04221" "2025-07-17 20:08:57" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "clinical exome sequencing (1436 genes)" "0000470321" "00468653" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470322" "00468654" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470323" "00468655" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470324" "00468656" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{geneid}}" "0000118347" "ASXL1" "0000118348" "ASXL1" "0000118349" "ASXL1" "0000118350" "ASXL1" "0000118351" "ASXL1" "0000118352" "ASXL1" "0000118353" "ASXL1" "0000181052" "ASXL1" "0000208382" "ASXL1" "0000208385" "ASXL1" "0000304088" "ASXL1" "0000304090" "ASXL1" "0000308858" "ASXL1" "0000467712" "ASXL1" ## 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 = 173 "{{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}}" "0000194443" "0" "90" "20" "31021211" "31021211" "subst" "1.62438E-5" "00002" "ASXL1_000002" "g.31021211C>T" "1/13 cases" "{PMID:Hoischen 2011:21706002}" "" "" "de novo, in patient" "De novo" "" "" "0" "" "" "g.32433408C>T" "" "pathogenic" "" "0000194444" "0" "90" "20" "31022712" "31022712" "subst" "0" "00002" "ASXL1_000005" "g.31022712C>T" "1/13 cases" "{PMID:Hoischen 2011:21706002}" "" "" "de novo, in patient" "De novo" "" "" "0" "" "" "g.32434909C>T" "" "pathogenic" "" "0000194445" "0" "90" "20" "31022847" "31022847" "subst" "0" "00002" "ASXL1_000007" "g.31022847C>T" "1/13 cases" "{PMID:Hoischen 2011:21706002}" "" "" "de novo, in patient" "De novo" "" "" "0" "" "" "g.32435044C>T" "" "pathogenic" "" "0000194446" "0" "90" "20" "31022983" "31022983" "subst" "0" "00002" "ASXL1_000006" "g.31022983T>G" "1/13 cases" "{PMID:Hoischen 2011:21706002}" "" "" "de novo, in patient" "De novo" "" "" "0" "" "" "g.32435180T>G" "" "pathogenic" "" "0000194447" "0" "90" "20" "31023050" "31023050" "dup" "0" "00002" "ASXL1_000004" "g.31023050dup" "1/13 cases" "{PMID:Hoischen 2011:21706002}" "" "" "de novo, in patient" "De novo" "" "" "0" "" "" "g.32435247dup" "" "pathogenic" "" "0000194448" "0" "90" "20" "31023288" "31023288" "subst" "0" "00002" "ASXL1_000001" "g.31023288C>T" "1/13 cases" "{PMID:Hoischen 2011:21706002}" "" "" "de novo, in patient" "De novo" "" "" "0" "" "" "g.32435485C>T" "" "pathogenic" "" "0000194449" "0" "90" "20" "31023598" "31023598" "subst" "0" "00002" "ASXL1_000003" "g.31023598C>A" "1/13 cases" "{PMID:Hoischen 2011:21706002}" "" "" "de novo, in patient" "De novo" "" "" "0" "" "" "g.32435795C>A" "" "pathogenic" "" "0000249778" "0" "50" "20" "31025052" "31025052" "subst" "4.06868E-6" "02325" "ASXL1_000055" "g.31025052A>T" "" "" "" "ASXL1(NM_015338.6):c.4537A>T (p.M1513L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32437249A>T" "" "VUS" "" "0000253942" "0" "10" "20" "30954295" "30954295" "subst" "0.424437" "01943" "ASXL1_000010" "g.30954295A>G" "" "" "" "ASXL1(NM_015338.5):c.140+26A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32366492A>G" "" "benign" "" "0000253943" "0" "10" "20" "31025163" "31025163" "subst" "0.412077" "01943" "ASXL1_000056" "g.31025163A>G" "" "" "" "ASXL1(NM_015338.5):c.*22A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32437360A>G" "" "benign" "" "0000254713" "0" "30" "20" "31024260" "31024260" "subst" "0.00227674" "01943" "ASXL1_000042" "g.31024260A>G" "" "" "" "ASXL1(NM_015338.5):c.3745A>G (p.M1249V, p.(Met1249Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32436457A>G" "" "likely benign" "" "0000254840" "0" "30" "20" "31023472" "31023472" "subst" "0.00147011" "01943" "ASXL1_000031" "g.31023472A>G" "" "" "" "ASXL1(NM_015338.5):c.2957A>G (p.N986S, p.(Asn986Ser)), ASXL1(NM_015338.6):c.2957A>G (p.N986S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32435669A>G" "" "likely benign" "" "0000259167" "0" "10" "20" "31022959" "31022959" "subst" "0.999992" "02325" "ASXL1_000027" "g.31022959T>C" "" "" "" "ASXL1(NM_015338.5):c.2444T>C (p.L815P), ASXL1(NM_015338.6):c.2444T>C (p.L815P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32435156=" "" "benign" "" "0000259168" "0" "10" "20" "31024274" "31024274" "subst" "0.424287" "02325" "ASXL1_000043" "g.31024274T>C" "" "" "" "ASXL1(NM_015338.5):c.3759T>C (p.S1253=), ASXL1(NM_015338.6):c.3759T>C (p.S1253=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32436471T>C" "" "benign" "" "0000261128" "0" "30" "20" "31022442" "31022442" "subst" "0" "02326" "ASXL1_000020" "g.31022442G>T" "" "" "" "ASXL1(NM_015338.5):c.1927G>T (p.G643W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32434639G>T" "" "likely benign" "" "0000261129" "0" "30" "20" "31016119" "31016119" "subst" "0.0144444" "02326" "ASXL1_000013" "g.31016119C>T" "" "" "" "ASXL1(NM_015338.5):c.374-9C>T, ASXL1(NM_015338.6):c.374-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32428316C>T" "" "likely benign" "" "0000263115" "0" "90" "20" "31021284" "31021285" "del" "0" "01943" "ASXL1_000018" "g.31021284_31021285del" "" "" "" "ASXL1(NM_015338.5):c.1283_1284delAG (p.Q428Rfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32433481_32433482del" "" "pathogenic" "" "0000263116" "0" "30" "20" "31022480" "31022480" "subst" "0.0014543" "01943" "ASXL1_000021" "g.31022480C>T" "" "" "" "ASXL1(NM_015338.5):c.1965C>T (p.T655=), ASXL1(NM_015338.6):c.1965C>T (p.(Thr655=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32434677C>T" "" "likely benign" "" "0000263117" "0" "30" "20" "31022579" "31022579" "subst" "2.84634E-5" "01943" "ASXL1_000022" "g.31022579G>A" "" "" "" "ASXL1(NM_015338.5):c.2064G>A (p.T688=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32434776G>A" "" "likely benign" "" "0000263118" "0" "30" "20" "31022642" "31022642" "subst" "0.000178731" "01943" "ASXL1_000023" "g.31022642C>T" "" "" "" "ASXL1(NM_015338.5):c.2127C>T (p.A709=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32434839C>T" "" "likely benign" "" "0000263119" "0" "30" "20" "31022852" "31022852" "subst" "0.000410466" "01943" "ASXL1_000024" "g.31022852T>G" "" "" "" "ASXL1(NM_015338.5):c.2337T>G (p.P779=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32435049T>G" "" "likely benign" "" "0000263120" "0" "10" "20" "31022910" "31022910" "subst" "0.0012868" "01943" "ASXL1_000025" "g.31022910G>T" "" "" "" "ASXL1(NM_015338.5):c.2395G>T (p.D799Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32435107G>T" "" "benign" "" "0000263121" "0" "50" "20" "31022938" "31022938" "subst" "0.000176013" "01943" "ASXL1_000026" "g.31022938C>A" "" "" "" "ASXL1(NM_015338.5):c.2423C>A (p.P808H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32435135C>A" "" "VUS" "" "0000263122" "0" "10" "20" "31022959" "31022959" "subst" "0.999992" "01943" "ASXL1_000027" "g.31022959T>C" "" "" "" "ASXL1(NM_015338.5):c.2444T>C (p.L815P), ASXL1(NM_015338.6):c.2444T>C (p.L815P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32435156=" "" "benign" "" "0000263123" "0" "30" "20" "30946602" "30946602" "subst" "0" "01943" "ASXL1_000008" "g.30946602G>T" "" "" "" "ASXL1(NM_015338.5):c.24G>T (p.K8N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32358799G>T" "" "likely benign" "" "0000263124" "0" "30" "20" "30956937" "30956937" "subst" "0.00255131" "01943" "ASXL1_000011" "g.30956937T>C" "" "" "" "ASXL1(NM_015338.5):c.252+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32369134T>C" "" "likely benign" "" "0000263125" "0" "30" "20" "31023041" "31023041" "subst" "0.000293095" "01943" "ASXL1_000029" "g.31023041T>C" "" "" "" "ASXL1(NM_015338.5):c.2526T>C (p.N842=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32435238T>C" "" "likely benign" "" "0000263126" "0" "30" "20" "31023133" "31023133" "subst" "5.685E-5" "01943" "ASXL1_000030" "g.31023133C>T" "" "" "" "ASXL1(NM_015338.5):c.2618C>T (p.P873L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32435330C>T" "" "likely benign" "" "0000263127" "0" "10" "20" "31023500" "31023500" "subst" "0.0277178" "01943" "ASXL1_000032" "g.31023500C>T" "" "" "" "ASXL1(NM_015338.5):c.2985C>T (p.H995=), ASXL1(NM_015338.6):c.2985C>T (p.(His995=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32435697C>T" "" "benign" "" "0000263128" "0" "50" "20" "31015992" "31015992" "subst" "2.03032E-5" "01943" "ASXL1_000012" "g.31015992C>T" "" "" "" "ASXL1(NM_015338.5):c.314C>T (p.T105M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32428189C>T" "" "VUS" "" "0000263129" "0" "30" "20" "31023789" "31023789" "subst" "4.46817E-5" "01943" "ASXL1_000033" "g.31023789G>A" "" "" "" "ASXL1(NM_015338.5):c.3274G>A (p.V1092M, p.(Val1092Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32435986G>A" "" "likely benign" "" "0000263130" "0" "10" "20" "31023821" "31023821" "subst" "0.0096485" "01943" "ASXL1_000034" "g.31023821G>T" "" "" "" "ASXL1(NM_015338.5):c.3306G>T (p.E1102D, p.(Glu1102Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32436018G>T" "" "benign" "" "0000263131" "0" "30" "20" "31023899" "31023899" "subst" "0.000337034" "01943" "ASXL1_000036" "g.31023899C>T" "" "" "" "ASXL1(NM_015338.5):c.3384C>T (p.D1128=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32436096C>T" "" "likely benign" "" "0000263132" "0" "10" "20" "31024013" "31024013" "subst" "0.00173148" "01943" "ASXL1_000037" "g.31024013C>G" "" "" "" "ASXL1(NM_015338.5):c.3498C>G (p.S1166R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32436210C>G" "" "benign" "" "0000263133" "0" "10" "20" "31024028" "31024028" "subst" "0.0057633" "01943" "ASXL1_000038" "g.31024028G>A" "" "" "" "ASXL1(NM_015338.5):c.3513G>A (p.R1171=), ASXL1(NM_015338.6):c.3513G>A (p.(Arg1171=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32436225G>A" "" "benign" "" "0000263134" "0" "50" "20" "31024207" "31024207" "subst" "0.0203167" "01943" "ASXL1_000041" "g.31024207C>T" "" "" "" "ASXL1(NM_015338.5):c.3692C>T (p.S1231F), ASXL1(NM_015338.6):c.3692C>T (p.(Ser1231Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32436404C>T" "" "VUS" "" "0000263135" "0" "10" "20" "31016119" "31016119" "subst" "0.0144444" "01943" "ASXL1_000013" "g.31016119C>T" "" "" "" "ASXL1(NM_015338.5):c.374-9C>T, ASXL1(NM_015338.6):c.374-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32428316C>T" "" "benign" "" "0000263136" "0" "10" "20" "31024274" "31024274" "subst" "0.424287" "01943" "ASXL1_000043" "g.31024274T>C" "" "" "" "ASXL1(NM_015338.5):c.3759T>C (p.S1253=), ASXL1(NM_015338.6):c.3759T>C (p.S1253=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32436471T>C" "" "benign" "" "0000263137" "0" "30" "20" "31024450" "31024450" "subst" "0.000849007" "01943" "ASXL1_000045" "g.31024450C>T" "" "" "" "ASXL1(NM_015338.5):c.3935C>T (p.A1312V, p.(Ala1312Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32436647C>T" "" "likely benign" "" "0000263138" "0" "50" "20" "31024462" "31024463" "delins" "0" "01943" "ASXL1_000046" "g.31024462_31024463delinsTT" "" "" "" "ASXL1(NM_015338.5):c.3947_3948delGCinsTT (p.R1316L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32436659_32436660delinsTT" "" "VUS" "" "0000263139" "0" "10" "20" "31024488" "31024488" "subst" "0.00689319" "01943" "ASXL1_000047" "g.31024488C>T" "" "" "" "ASXL1(NM_015338.5):c.3973C>T (p.L1325F), ASXL1(NM_015338.6):c.3973C>T (p.(Leu1325Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32436685C>T" "" "benign" "" "0000263140" "0" "30" "20" "31024689" "31024689" "subst" "8.12163E-6" "01943" "ASXL1_000049" "g.31024689C>T" "" "" "" "ASXL1(NM_015338.5):c.4174C>T (p.P1392S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32436886C>T" "" "likely benign" "" "0000263141" "0" "30" "20" "31024704" "31024704" "subst" "0.00204675" "01943" "ASXL1_000050" "g.31024704G>A" "" "" "" "ASXL1(NM_015338.5):c.4189G>A (p.G1397S, p.(Gly1397Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32436901G>A" "" "likely benign" "" "0000263142" "0" "30" "20" "31024736" "31024736" "subst" "0" "01943" "ASXL1_000051" "g.31024736C>T" "" "" "" "ASXL1(NM_015338.5):c.4221C>T (p.D1407=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32436933C>T" "" "likely benign" "" "0000263143" "0" "50" "20" "31024980" "31024980" "subst" "0" "01943" "ASXL1_000053" "g.31024980T>C" "" "" "" "ASXL1(NM_015338.5):c.4465T>C (p.S1489P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32437177T>C" "" "VUS" "" "0000263144" "0" "30" "20" "31025008" "31025008" "subst" "0.000170762" "01943" "ASXL1_000054" "g.31025008C>T" "" "" "" "ASXL1(NM_015338.5):c.4493C>T (p.T1498M, p.(Thr1498Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32437205C>T" "" "likely benign" "" "0000263145" "0" "30" "20" "31016204" "31016204" "subst" "0" "01943" "ASXL1_000014" "g.31016204C>T" "" "" "" "ASXL1(NM_015338.5):c.450C>T (p.D150=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32428401C>T" "" "likely benign" "" "0000263146" "0" "10" "20" "31017119" "31017119" "subst" "0.0295108" "01943" "ASXL1_000015" "g.31017119T>C" "" "" "" "ASXL1(NM_015338.5):c.472-22T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32429316T>C" "" "benign" "" "0000263147" "0" "10" "20" "31017209" "31017209" "subst" "0.000771511" "01943" "ASXL1_000016" "g.31017209C>T" "" "" "" "ASXL1(NM_015338.5):c.540C>T (p.N180=), ASXL1(NM_015338.6):c.540C>T (p.(Asn180=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32429406C>T" "" "benign" "" "0000263148" "0" "10" "20" "30946654" "30946654" "subst" "0.0073467" "01943" "ASXL1_000009" "g.30946654G>A" "" "" "" "ASXL1(NM_015338.5):c.57+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32358851G>A" "" "benign" "" "0000328338" "0" "30" "20" "31023028" "31023028" "subst" "0.00242463" "01804" "ASXL1_000028" "g.31023028A>G" "" "" "" "ASXL1(NM_015338.5):c.2513A>G (p.(Lys838Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32435225A>G" "" "likely benign" "" "0000328339" "0" "30" "20" "31023894" "31023894" "subst" "0.000105578" "01804" "ASXL1_000035" "g.31023894G>A" "" "" "" "ASXL1(NM_015338.6):c.3379G>A (p.(Asp1127Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32436091G>A" "" "likely benign" "" "0000328340" "0" "50" "20" "31024179" "31024179" "subst" "4.09075E-6" "01804" "ASXL1_000040" "g.31024179T>G" "" "" "" "ASXL1(NM_015338.5):c.3664T>G (p.(Ser1222Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32436376T>G" "" "VUS" "" "0000328341" "0" "30" "20" "31024425" "31024425" "subst" "8.93495E-5" "01804" "ASXL1_000044" "g.31024425C>G" "" "" "" "ASXL1(NM_015338.5):c.3910C>G (p.(Leu1304Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32436622C>G" "" "likely benign" "" "0000328343" "0" "50" "20" "31024812" "31024812" "del" "0" "01804" "ASXL1_000052" "g.31024812del" "" "" "" "ASXL1(NM_015338.5):c.4295del (p.(Gln1433AsnfsTer17))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32437009del" "" "VUS" "" "0000337684" "0" "10" "20" "31016119" "31016119" "subst" "0.0144444" "02327" "ASXL1_000013" "g.31016119C>T" "" "" "" "ASXL1(NM_015338.5):c.374-9C>T, ASXL1(NM_015338.6):c.374-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32428316C>T" "" "benign" "" "0000337685" "0" "50" "20" "31019384" "31019384" "subst" "0" "02327" "ASXL1_000059" "g.31019384A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32431581A>G" "" "VUS" "" "0000337686" "0" "10" "20" "31025163" "31025163" "subst" "0.412077" "02327" "ASXL1_000056" "g.31025163A>G" "" "" "" "ASXL1(NM_015338.5):c.*22A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32437360A>G" "" "benign" "" "0000339808" "0" "10" "20" "31017720" "31017720" "subst" "0.00660802" "02327" "ASXL1_000058" "g.31017720C>T" "" "" "" "ASXL1(NM_015338.6):c.582C>T (p.(His194=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32429917C>T" "" "benign" "" "0000339809" "0" "10" "20" "31023500" "31023500" "subst" "0.0277178" "02327" "ASXL1_000032" "g.31023500C>T" "" "" "" "ASXL1(NM_015338.5):c.2985C>T (p.H995=), ASXL1(NM_015338.6):c.2985C>T (p.(His995=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32435697C>T" "" "benign" "" "0000339810" "0" "10" "20" "31024034" "31024034" "subst" "0.0202614" "02327" "ASXL1_000079" "g.31024034G>A" "" "" "" "ASXL1(NM_015338.5):c.3519G>A (p.L1173=), ASXL1(NM_015338.6):c.3519G>A (p.(Leu1173=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32436231G>A" "" "benign" "" "0000339811" "0" "10" "20" "31024274" "31024274" "subst" "0.424287" "02327" "ASXL1_000043" "g.31024274T>C" "" "" "" "ASXL1(NM_015338.5):c.3759T>C (p.S1253=), ASXL1(NM_015338.6):c.3759T>C (p.S1253=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32436471T>C" "" "benign" "" "0000341368" "0" "30" "20" "31019450" "31019450" "subst" "4.06197E-6" "02327" "ASXL1_000060" "g.31019450C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32431647C>T" "" "likely benign" "" "0000341689" "0" "70" "20" "31023717" "31023717" "subst" "8.12638E-6" "02327" "ASXL1_000078" "g.31023717C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32435914C>T" "" "likely pathogenic" "" "0000342831" "0" "90" "20" "31021211" "31021211" "subst" "1.62438E-5" "02327" "ASXL1_000002" "g.31021211C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32433408C>T" "" "pathogenic" "" "0000343226" "0" "90" "20" "31022496" "31022496" "subst" "0" "02327" "ASXL1_000068" "g.31022496A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32434693A>T" "" "pathogenic" "" "0000343522" "0" "90" "20" "31023408" "31023408" "subst" "1.21852E-5" "02327" "ASXL1_000074" "g.31023408C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32435605C>T" "" "pathogenic" "" "0000344910" "0" "90" "20" "31022277" "31022277" "subst" "0" "02327" "ASXL1_000064" "g.31022277C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32434474C>T" "" "pathogenic" "" "0000345059" "0" "10" "20" "31023821" "31023821" "subst" "0.0096485" "02327" "ASXL1_000034" "g.31023821G>T" "" "" "" "ASXL1(NM_015338.5):c.3306G>T (p.E1102D, p.(Glu1102Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32436018G>T" "" "benign" "" "0000345545" "0" "90" "20" "31022832" "31022832" "subst" "0" "02327" "ASXL1_000070" "g.31022832G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32435029G>T" "" "pathogenic" "" "0000346207" "0" "10" "20" "31022469" "31022469" "subst" "0.0192445" "02327" "ASXL1_000067" "g.31022469G>A" "" "" "" "ASXL1(NM_015338.5):c.1954G>A (p.G652S), ASXL1(NM_015338.6):c.1954G>A (p.(Gly652Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32434666G>A" "" "benign" "" "0000346881" "0" "10" "20" "31024488" "31024488" "subst" "0.00689319" "02327" "ASXL1_000047" "g.31024488C>T" "" "" "" "ASXL1(NM_015338.5):c.3973C>T (p.L1325F), ASXL1(NM_015338.6):c.3973C>T (p.(Leu1325Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32436685C>T" "" "benign" "" "0000347304" "0" "90" "20" "31022839" "31022839" "subst" "0" "02327" "ASXL1_000071" "g.31022839T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32435036T>G" "" "pathogenic" "" "0000347658" "0" "10" "20" "31023028" "31023028" "subst" "0.00242463" "02327" "ASXL1_000028" "g.31023028A>G" "" "" "" "ASXL1(NM_015338.5):c.2513A>G (p.(Lys838Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32435225A>G" "" "benign" "" "0000348682" "0" "10" "20" "31024207" "31024207" "subst" "0.0203167" "02327" "ASXL1_000041" "g.31024207C>T" "" "" "" "ASXL1(NM_015338.5):c.3692C>T (p.S1231F), ASXL1(NM_015338.6):c.3692C>T (p.(Ser1231Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32436404C>T" "" "benign" "" "0000348976" "0" "90" "20" "31021176" "31021176" "subst" "0" "02327" "ASXL1_000061" "g.31021176C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32433373C>A" "" "pathogenic" "" "0000351092" "0" "50" "20" "31017139" "31017139" "subst" "0" "02327" "ASXL1_000057" "g.31017139A>G" "" "" "" "ASXL1(NM_015338.6):c.472-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32429336A>G" "" "VUS" "" "0000368373" "0" "90" "20" "31024157" "31024160" "del" "0" "01807" "ASXL1_000082" "g.31024157_31024160del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.32436354_32436357del" "" "pathogenic" "" "0000404688" "0" "90" "20" "31021211" "31021211" "subst" "1.62438E-5" "00006" "ASXL1_000002" "g.31021211C>T" "" "{PMID:Tumienė 2018:29286531}" "" "" "" "De novo" "" "" "0" "" "" "g.32433408C>T" "" "pathogenic" "ACMG" "0000438219" "0" "70" "20" "31024371" "31024371" "subst" "0" "03112" "ASXL1_000083" "g.31024371C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.32436568C>T" "" "likely pathogenic" "" "0000438220" "0" "70" "20" "31024758" "31024758" "subst" "0" "03112" "ASXL1_000084" "g.31024758C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.32436955C>T" "" "likely pathogenic" "" "0000569328" "0" "30" "20" "31017710" "31017710" "subst" "2.54061E-5" "01804" "ASXL1_000085" "g.31017710C>T" "" "" "" "ASXL1(NM_015338.5):c.572C>T (p.(Ser191Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32429907C>T" "" "likely benign" "" "0000569329" "0" "50" "20" "31019169" "31019169" "subst" "0" "02327" "ASXL1_000086" "g.31019169C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32431366C>T" "" "VUS" "" "0000569332" "0" "30" "20" "31021430" "31021430" "subst" "0.000317058" "01804" "ASXL1_000089" "g.31021430G>C" "" "" "" "ASXL1(NM_015338.5):c.1429G>C (p.(Glu477Gln), p.E477Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32433627G>C" "" "likely benign" "" "0000569333" "0" "30" "20" "31022422" "31022422" "subst" "0.00010585" "02325" "ASXL1_000090" "g.31022422C>T" "" "" "" "ASXL1(NM_015338.5):c.1907C>T (p.(Ala636Val)), ASXL1(NM_015338.6):c.1907C>T (p.A636V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32434619C>T" "" "likely benign" "" "0000569335" "0" "30" "20" "31022469" "31022469" "subst" "0.0192445" "01943" "ASXL1_000067" "g.31022469G>A" "" "" "" "ASXL1(NM_015338.5):c.1954G>A (p.G652S), ASXL1(NM_015338.6):c.1954G>A (p.(Gly652Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32434666G>A" "" "likely benign" "" "0000569338" "0" "30" "20" "31023059" "31023059" "subst" "0.00012198" "01943" "ASXL1_000092" "g.31023059A>T" "" "" "" "ASXL1(NM_015338.5):c.2544A>T (p.T848=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32435256A>T" "" "likely benign" "" "0000569340" "0" "30" "20" "31023789" "31023789" "subst" "4.46817E-5" "01804" "ASXL1_000033" "g.31023789G>A" "" "" "" "ASXL1(NM_015338.5):c.3274G>A (p.V1092M, p.(Val1092Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32435986G>A" "" "likely benign" "" "0000569341" "0" "30" "20" "31023821" "31023821" "subst" "0.0096485" "01804" "ASXL1_000034" "g.31023821G>T" "" "" "" "ASXL1(NM_015338.5):c.3306G>T (p.E1102D, p.(Glu1102Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32436018G>T" "" "likely benign" "" "0000569342" "0" "30" "20" "31023964" "31023964" "subst" "2.03041E-5" "01804" "ASXL1_000094" "g.31023964G>T" "" "" "" "ASXL1(NM_015338.5):c.3449G>T (p.(Gly1150Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32436161G>T" "" "likely benign" "" "0000569343" "0" "30" "20" "31023997" "31023997" "subst" "4.0623E-6" "01943" "ASXL1_000095" "g.31023997T>C" "" "" "" "ASXL1(NM_015338.5):c.3482T>C (p.M1161T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32436194T>C" "" "likely benign" "" "0000569344" "0" "10" "20" "31024028" "31024028" "subst" "0.0057633" "02327" "ASXL1_000038" "g.31024028G>A" "" "" "" "ASXL1(NM_015338.5):c.3513G>A (p.R1171=), ASXL1(NM_015338.6):c.3513G>A (p.(Arg1171=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32436225G>A" "" "benign" "" "0000569345" "0" "30" "20" "31024034" "31024034" "subst" "0.0202614" "01943" "ASXL1_000079" "g.31024034G>A" "" "" "" "ASXL1(NM_015338.5):c.3519G>A (p.L1173=), ASXL1(NM_015338.6):c.3519G>A (p.(Leu1173=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32436231G>A" "" "likely benign" "" "0000569347" "0" "30" "20" "31024157" "31024157" "subst" "0" "01804" "ASXL1_000097" "g.31024157T>G" "" "" "" "ASXL1(NM_015338.5):c.3642T>G (p.(His1214Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32436354T>G" "" "likely benign" "" "0000569348" "0" "30" "20" "31024260" "31024260" "subst" "0.00227674" "01804" "ASXL1_000042" "g.31024260A>G" "" "" "" "ASXL1(NM_015338.5):c.3745A>G (p.M1249V, p.(Met1249Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32436457A>G" "" "likely benign" "" "0000569349" "0" "50" "20" "31024384" "31024384" "subst" "1.62423E-5" "02325" "ASXL1_000098" "g.31024384C>T" "" "" "" "ASXL1(NM_015338.6):c.3869C>T (p.A1290V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32436581C>T" "" "VUS" "" "0000569350" "0" "30" "20" "31024454" "31024454" "subst" "0" "01943" "ASXL1_000099" "g.31024454C>T" "" "" "" "ASXL1(NM_015338.5):c.3939C>T (p.T1313=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32436651C>T" "" "likely benign" "" "0000569351" "0" "30" "20" "31024698" "31024698" "subst" "0.000462937" "01943" "ASXL1_000100" "g.31024698C>G" "" "" "" "ASXL1(NM_015338.5):c.4183C>G (p.L1395V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32436895C>G" "" "likely benign" "" "0000569352" "0" "30" "20" "31024704" "31024704" "subst" "0.00204675" "01804" "ASXL1_000050" "g.31024704G>A" "" "" "" "ASXL1(NM_015338.5):c.4189G>A (p.G1397S, p.(Gly1397Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32436901G>A" "" "likely benign" "" "0000618032" "0" "30" "20" "31022765" "31022765" "subst" "0.00368173" "01804" "ASXL1_000101" "g.31022765C>T" "" "" "" "ASXL1(NM_015338.5):c.2250C>T (p.(Pro750=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32434962C>T" "" "likely benign" "" "0000618033" "0" "90" "20" "31023716" "31023717" "del" "0" "02325" "ASXL1_000102" "g.31023716_31023717del" "" "" "" "ASXL1(NM_015338.6):c.3201_3202delTC (p.R1068Sfs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32435913_32435914del" "" "pathogenic" "" "0000624138" "0" "50" "20" "31024464" "31024464" "subst" "0" "02325" "ASXL1_000103" "g.31024464C>A" "" "" "" "ASXL1(NM_015338.6):c.3949C>A (p.P1317T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32436661C>A" "" "VUS" "" "0000650762" "1" "30" "20" "31023821" "31023821" "subst" "0.0096485" "03575" "ASXL1_000034" "g.31023821G>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs139115934}" "Germline" "" "rs139115934" "0" "" "" "g.32436018G>T" "" "likely benign" "" "0000650763" "1" "70" "20" "31024150" "31024150" "subst" "0.00034795" "03575" "ASXL1_000096" "g.31024150C>T" "13/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "13 heterozygous, no homozygous; {DB:CLININrs542568224}" "Germline" "" "rs542568224" "0" "" "" "g.32436347C>T" "" "likely pathogenic" "" "0000650764" "1" "30" "20" "31027111" "31027111" "subst" "0" "03575" "ASXL1_000104" "g.31027111G>A" "17/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "17 heterozygous, no homozygous; {DB:CLININrs117307643}" "Germline" "" "rs117307643" "0" "" "" "g.32439308G>A" "" "likely benign" "" "0000658740" "0" "90" "20" "31022887" "31022888" "del" "0" "02327" "ASXL1_000105" "g.31022887_31022888del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32435084_32435085del" "" "pathogenic" "" "0000667486" "0" "90" "20" "31021545" "31021546" "del" "0" "00006" "ASXL1_000063" "g.31021545_31021546del" "" "{PMID:Helbig 2016:26795593}" "" "1544_1545delTG" "" "De novo" "" "" "0" "" "" "g.32433742_32433743del" "" "pathogenic (dominant)" "ACMG" "0000667488" "0" "90" "20" "31021118" "31021118" "subst" "8.12163E-6" "00006" "ASXL1_000106" "g.31021118C>T" "" "{PMID:Helbig 2016:26795593}" "" "" "" "De novo" "" "" "0" "" "" "g.32433315C>T" "" "pathogenic (dominant)" "ACMG" "0000681581" "0" "30" "20" "31024859" "31024859" "subst" "1.62431E-5" "01943" "ASXL1_000107" "g.31024859A>G" "" "" "" "ASXL1(NM_015338.5):c.4344A>G (p.Q1448=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000683292" "0" "70" "20" "31021130" "31021130" "subst" "0" "00006" "ASXL1_000108" "g.31021130C>T" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.32433327C>T" "" "likely pathogenic (dominant)" "" "0000692954" "0" "50" "20" "31022422" "31022422" "subst" "0.00010585" "01804" "ASXL1_000090" "g.31022422C>T" "" "" "" "ASXL1(NM_015338.5):c.1907C>T (p.(Ala636Val)), ASXL1(NM_015338.6):c.1907C>T (p.A636V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692955" "0" "50" "20" "31024722" "31024722" "subst" "1.21846E-5" "01943" "ASXL1_000109" "g.31024722C>T" "" "" "" "ASXL1(NM_015338.5):c.4207C>T (p.P1403S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692956" "0" "50" "20" "31024966" "31024966" "subst" "0" "02325" "ASXL1_000110" "g.31024966A>G" "" "" "" "ASXL1(NM_015338.6):c.4451A>G (p.H1484R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727639" "0" "30" "20" "31022625" "31022625" "subst" "0.000735234" "02325" "ASXL1_000111" "g.31022625G>A" "" "" "" "ASXL1(NM_015338.6):c.2110G>A (p.G704R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727640" "0" "90" "20" "31024111" "31024121" "del" "0" "02329" "ASXL1_000039" "g.31024111_31024121del" "" "" "" "ASXL1(NM_015338.5):c.3596_3606delCACCCCAAAAG (p.A1199Efs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000788913" "0" "70" "20" "31024575" "31024575" "subst" "0" "00006" "ASXL1_000112" "g.31024575G>T" "" "{PMID:Srivastava 2014:25131622}" "" "" "" "De novo" "" "" "0" "" "" "g.32436772G>T" "" "likely pathogenic" "" "0000809197" "0" "50" "20" "30956910" "30956910" "subst" "4.06128E-6" "02325" "ASXL1_000113" "g.30956910G>A" "" "" "" "ASXL1(NM_015338.6):c.236G>A (p.S79N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809198" "0" "50" "20" "31022374" "31022374" "subst" "2.0427E-5" "01943" "ASXL1_000114" "g.31022374G>A" "" "" "" "ASXL1(NM_015338.5):c.1859G>A (p.R620H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866409" "0" "30" "20" "31024450" "31024450" "subst" "0.000849007" "01804" "ASXL1_000045" "g.31024450C>T" "" "" "" "ASXL1(NM_015338.5):c.3935C>T (p.A1312V, p.(Ala1312Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895256" "0" "70" "20" "31021250" "31021250" "subst" "3.24868E-5" "02327" "ASXL1_000115" "g.31021250C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000895257" "0" "10" "20" "31021430" "31021430" "subst" "0.000317058" "02326" "ASXL1_000089" "g.31021430G>C" "" "" "" "ASXL1(NM_015338.5):c.1429G>C (p.(Glu477Gln), p.E477Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000895258" "0" "90" "20" "31021601" "31021610" "del" "0" "02329" "ASXL1_000116" "g.31021601_31021610del" "" "" "" "ASXL1(NM_015338.5):c.1600_1609delTCCTTTCCCG (p.S534Kfs*166)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000895259" "0" "90" "20" "31021614" "31021617" "del" "0" "02329" "ASXL1_000117" "g.31021614_31021617del" "" "" "" "ASXL1(NM_015338.5):c.1613_1616delAGAA (p.K538Sfs*164)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000895260" "0" "50" "20" "31022281" "31022281" "subst" "0" "02329" "ASXL1_000118" "g.31022281C>G" "" "" "" "ASXL1(NM_015338.5):c.1766C>G (p.P589R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895261" "0" "30" "20" "31023472" "31023472" "subst" "0.00147011" "02325" "ASXL1_000031" "g.31023472A>G" "" "" "" "ASXL1(NM_015338.5):c.2957A>G (p.N986S, p.(Asn986Ser)), ASXL1(NM_015338.6):c.2957A>G (p.N986S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895262" "0" "10" "20" "31023899" "31023899" "subst" "0.000337034" "02326" "ASXL1_000036" "g.31023899C>T" "" "" "" "ASXL1(NM_015338.5):c.3384C>T (p.D1128=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915357" "0" "30" "20" "31023138" "31023138" "subst" "1.62434E-5" "02326" "ASXL1_000119" "g.31023138A>G" "" "" "" "ASXL1(NM_015338.5):c.2623A>G (p.M875V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926983" "0" "70" "20" "31019207" "31019208" "ins" "0" "02325" "ASXL1_000120" "g.31019207_31019208insGG" "" "" "" "ASXL1(NM_015338.6):c.802_803insGG (p.I268Rfs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000926984" "0" "70" "20" "31019208" "31019209" "ins" "0" "02325" "ASXL1_000121" "g.31019208_31019209insGCCAACAC" "" "" "" "ASXL1(NM_015338.6):c.803_804insGCCAACAC (p.I268Mfs*27)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000933201" "0" "70" "20" "31022233" "31022233" "subst" "0" "00006" "ASXL1_000122" "g.31022233A>G" "" "{PMID:Yuan 2019:30158690}" "" "" "" "De novo" "" "" "0" "" "" "g.32434430A>G" "" "VUS" "" "0000939800" "0" "70" "20" "31024284" "31024284" "del" "0" "00006" "ASXL1_000123" "g.31024284del" "" "{PMID:Nambot 2018:29095811}" "" "" "" "De novo" "" "" "0" "" "" "g.32436481del" "" "likely pathogenic (dominant)" "" "0000983762" "0" "10" "20" "31016119" "31016119" "subst" "0.0144444" "01804" "ASXL1_000013" "g.31016119C>T" "" "" "" "ASXL1(NM_015338.5):c.374-9C>T, ASXL1(NM_015338.6):c.374-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000983763" "0" "10" "20" "31022469" "31022469" "subst" "0.0192445" "01804" "ASXL1_000067" "g.31022469G>A" "" "" "" "ASXL1(NM_015338.5):c.1954G>A (p.G652S), ASXL1(NM_015338.6):c.1954G>A (p.(Gly652Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000983764" "0" "50" "20" "31022696" "31022698" "del" "0" "01804" "ASXL1_000125" "g.31022696_31022698del" "" "" "" "ASXL1(NM_015338.6):c.2181_2183del (p.(Glu728del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005319" "0" "30" "20" "31017719" "31017719" "subst" "1.267E-5" "01804" "ASXL1_000126" "g.31017719A>G" "" "" "" "ASXL1(NM_015338.5):c.581A>G (p.(His194Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005320" "0" "30" "20" "31017790" "31017790" "subst" "0" "01804" "ASXL1_000127" "g.31017790C>A" "" "" "" "ASXL1(NM_015338.5):c.652C>A (p.(Arg218Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005321" "0" "30" "20" "31017794" "31017794" "subst" "3.37299E-5" "01804" "ASXL1_000128" "g.31017794G>T" "" "" "" "ASXL1(NM_015338.5):c.656G>T (p.(Gly219Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005322" "0" "30" "20" "31021460" "31021460" "subst" "0" "01804" "ASXL1_000129" "g.31021460G>A" "" "" "" "ASXL1(NM_015338.5):c.1459G>A (p.(Ala487Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005323" "0" "50" "20" "31022302" "31022302" "subst" "0" "02327" "ASXL1_000130" "g.31022302G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005324" "0" "30" "20" "31022853" "31022853" "subst" "0" "01804" "ASXL1_000131" "g.31022853C>G" "" "" "" "ASXL1(NM_015338.5):c.2338C>G (p.(Gln780Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005325" "0" "30" "20" "31023052" "31023052" "subst" "0" "01804" "ASXL1_000132" "g.31023052G>T" "" "" "" "ASXL1(NM_015338.5):c.2537G>T (p.(Ser846Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005326" "0" "30" "20" "31023223" "31023223" "subst" "1.62476E-5" "01804" "ASXL1_000133" "g.31023223C>T" "" "" "" "ASXL1(NM_015338.5):c.2708C>T (p.(Ser903Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005327" "0" "30" "20" "31023450" "31023450" "subst" "0" "01804" "ASXL1_000134" "g.31023450G>A" "" "" "" "ASXL1(NM_015338.5):c.2935G>A (p.(Asp979Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005328" "0" "30" "20" "31023472" "31023472" "subst" "0.00147011" "01804" "ASXL1_000031" "g.31023472A>G" "" "" "" "ASXL1(NM_015338.5):c.2957A>G (p.N986S, p.(Asn986Ser)), ASXL1(NM_015338.6):c.2957A>G (p.N986S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005329" "0" "30" "20" "31023556" "31023556" "subst" "0" "01804" "ASXL1_000135" "g.31023556G>A" "" "" "" "ASXL1(NM_015338.5):c.3041G>A (p.(Ser1014Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005330" "0" "30" "20" "31023921" "31023921" "subst" "2.03029E-5" "01804" "ASXL1_000136" "g.31023921G>C" "" "" "" "ASXL1(NM_015338.5):c.3406G>C (p.(Val1136Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005331" "0" "50" "20" "31024170" "31024170" "subst" "4.0936E-6" "01804" "ASXL1_000137" "g.31024170C>T" "" "" "" "ASXL1(NM_015338.5):c.3655C>T (p.(Pro1219Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005332" "0" "30" "20" "31025008" "31025008" "subst" "0.000170762" "01804" "ASXL1_000054" "g.31025008C>T" "" "" "" "ASXL1(NM_015338.5):c.4493C>T (p.T1498M, p.(Thr1498Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015855" "0" "30" "20" "31024762" "31024762" "subst" "6.90434E-5" "02325" "ASXL1_000138" "g.31024762A>G" "" "" "" "ASXL1(NM_015338.6):c.4247A>G (p.E1416G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027306" "0" "50" "20" "31022410" "31022410" "subst" "4.15742E-6" "02325" "ASXL1_000139" "g.31022410G>A" "" "" "" "ASXL1(NM_015338.6):c.1895G>A (p.C632Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043298" "0" "30" "20" "31017209" "31017209" "subst" "0.000771511" "01804" "ASXL1_000016" "g.31017209C>T" "" "" "" "ASXL1(NM_015338.5):c.540C>T (p.N180=), ASXL1(NM_015338.6):c.540C>T (p.(Asn180=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043299" "0" "30" "20" "31017720" "31017720" "subst" "0.00660802" "01804" "ASXL1_000058" "g.31017720C>T" "" "" "" "ASXL1(NM_015338.6):c.582C>T (p.(His194=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043300" "0" "30" "20" "31023500" "31023500" "subst" "0.0277178" "01804" "ASXL1_000032" "g.31023500C>T" "" "" "" "ASXL1(NM_015338.5):c.2985C>T (p.H995=), ASXL1(NM_015338.6):c.2985C>T (p.(His995=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043301" "0" "30" "20" "31023916" "31023916" "subst" "2.03032E-5" "01804" "ASXL1_000140" "g.31023916C>T" "" "" "" "ASXL1(NM_015338.6):c.3401C>T (p.(Pro1134Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043302" "0" "30" "20" "31024028" "31024028" "subst" "0.0057633" "01804" "ASXL1_000038" "g.31024028G>A" "" "" "" "ASXL1(NM_015338.5):c.3513G>A (p.R1171=), ASXL1(NM_015338.6):c.3513G>A (p.(Arg1171=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043303" "0" "30" "20" "31024034" "31024034" "subst" "0.0202614" "01804" "ASXL1_000079" "g.31024034G>A" "" "" "" "ASXL1(NM_015338.5):c.3519G>A (p.L1173=), ASXL1(NM_015338.6):c.3519G>A (p.(Leu1173=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043304" "0" "10" "20" "31024207" "31024207" "subst" "0.0203167" "01804" "ASXL1_000041" "g.31024207C>T" "" "" "" "ASXL1(NM_015338.5):c.3692C>T (p.S1231F), ASXL1(NM_015338.6):c.3692C>T (p.(Ser1231Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001046770" "0" "30" "20" "31023472" "31023472" "subst" "0.00147011" "02327" "ASXL1_000031" "g.31023472A>G" "" "" "" "ASXL1(NM_015338.5):c.2957A>G (p.N986S, p.(Asn986Ser)), ASXL1(NM_015338.6):c.2957A>G (p.N986S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046974" "0" "50" "20" "31024858" "31024858" "subst" "0.000134005" "04221" "ASXL1_000141" "g.31024858A>G" "" "" "" "" "De novo in patient (mother molecularly tested, father not available for molecular study); variant classified as benign but probably disease causing" "Germline/De novo (untested)" "" "rs772452614" "0" "" "" "g.32437055C>A" "{CV:1302809}" "VUS (!)" "ACMG" "0001056868" "0" "50" "20" "30956828" "30956828" "subst" "0" "01804" "ASXL1_000142" "g.30956828C>G" "" "" "" "ASXL1(NM_015338.6):c.154C>G (p.(Pro52Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056869" "0" "50" "20" "31017139" "31017139" "subst" "0" "01804" "ASXL1_000057" "g.31017139A>G" "" "" "" "ASXL1(NM_015338.6):c.472-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056870" "0" "30" "20" "31022480" "31022480" "subst" "0.0014543" "01804" "ASXL1_000021" "g.31022480C>T" "" "" "" "ASXL1(NM_015338.5):c.1965C>T (p.T655=), ASXL1(NM_015338.6):c.1965C>T (p.(Thr655=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056871" "0" "30" "20" "31023149" "31023149" "subst" "1.21823E-5" "01804" "ASXL1_000143" "g.31023149T>A" "" "" "" "ASXL1(NM_015338.6):c.2634T>A (p.(Ser878Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056872" "0" "50" "20" "31023520" "31023520" "subst" "0" "01804" "ASXL1_000144" "g.31023520C>A" "" "" "" "ASXL1(NM_015338.6):c.3005C>A (p.(Ala1002Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056873" "0" "50" "20" "31023598" "31023598" "subst" "5.68616E-5" "01804" "ASXL1_000145" "g.31023598C>T" "" "" "" "ASXL1(NM_015338.6):c.3083C>T (p.(Ser1028Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056874" "0" "30" "20" "31024488" "31024488" "subst" "0.00689319" "01804" "ASXL1_000047" "g.31024488C>T" "" "" "" "ASXL1(NM_015338.5):c.3973C>T (p.L1325F), ASXL1(NM_015338.6):c.3973C>T (p.(Leu1325Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056875" "0" "50" "20" "31024624" "31024624" "subst" "0" "01804" "ASXL1_000146" "g.31024624A>G" "" "" "" "ASXL1(NM_015338.6):c.4109A>G (p.(Glu1370Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001058443" "0" "90" "20" "31022439" "31022439" "subst" "0" "00006" "ASXL1_000147" "g.31022439G>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.32434636G>T" "" "pathogenic" "" "0001058444" "0" "90" "20" "31021211" "31021211" "subst" "1.62438E-5" "00006" "ASXL1_000002" "g.31021211C>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.32433408C>T" "" "pathogenic" "" "0001058445" "0" "90" "20" "31024575" "31024575" "subst" "0" "00006" "ASXL1_000112" "g.31024575G>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.32436772G>T" "" "pathogenic" "" "0001058446" "0" "90" "20" "31022931" "31022932" "dup" "0" "00006" "ASXL1_000148" "g.31022931_31022932dup" "" "{PMID:Retterer 2016:26633542}" "" "2416_2417dupAC" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.32435128_32435129dup" "" "pathogenic" "" "0001067313" "0" "30" "20" "30946638" "30946638" "subst" "0" "02325" "chr20_003199" "g.30946638G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001067315" "0" "30" "20" "31024627" "31024629" "del" "0" "02325" "chr20_003200" "g.31024627_31024629del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 ASXL1 ## Count = 173 "{{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}}" "0000194443" "00003005" "90" "1210" "0" "1210" "0" "c.1210C>T" "r.(?)" "p.(Arg404*)" "12" "0000194444" "00003005" "90" "2197" "0" "2197" "0" "c.2197C>T" "r.(?)" "p.(Gln733*)" "13" "0000194445" "00003005" "90" "2332" "0" "2332" "0" "c.2332C>T" "r.(?)" "p.(Gln778*)" "13" "0000194446" "00003005" "90" "2468" "0" "2468" "0" "c.2468T>G" "r.(?)" "p.(Leu823*)" "13" "0000194447" "00003005" "90" "2535" "0" "2535" "0" "c.2535dup" "r.(?)" "p.(Ser846Glnfs*5)" "13" "0000194448" "00003005" "90" "2773" "0" "2773" "0" "c.2773C>T" "r.(?)" "p.(Gln925*)" "13" "0000194449" "00003005" "90" "3083" "0" "3083" "0" "c.3083C>A" "r.(?)" "p.(Ser1028*)" "13" "0000249778" "00003005" "50" "4537" "0" "4537" "0" "c.4537A>T" "r.(?)" "p.(Met1513Leu)" "" "0000253942" "00003005" "10" "140" "26" "140" "26" "c.140+26A>G" "r.(=)" "p.(=)" "" "0000253943" "00003005" "10" "4648" "0" "4648" "0" "c.*22A>G" "r.(=)" "p.(=)" "" "0000254713" "00003005" "30" "3745" "0" "3745" "0" "c.3745A>G" "r.(?)" "p.(Met1249Val)" "" "0000254840" "00003005" "30" "2957" "0" "2957" "0" "c.2957A>G" "r.(?)" "p.(Asn986Ser)" "" "0000259167" "00003005" "10" "2444" "0" "2444" "0" "c.2444=" "r.(=)" "p.(Pro815=)" "" "0000259168" "00003005" "10" "3759" "0" "3759" "0" "c.3759T>C" "r.(?)" "p.(Ser1253=)" "" "0000261128" "00003005" "30" "1927" "0" "1927" "0" "c.1927G>T" "r.(?)" "p.(Gly643Trp)" "" "0000261129" "00003005" "30" "374" "-9" "374" "-9" "c.374-9C>T" "r.(=)" "p.(=)" "" "0000263115" "00003005" "90" "1283" "0" "1284" "0" "c.1283_1284del" "r.(?)" "p.(Gln428ArgfsTer9)" "" "0000263116" "00003005" "30" "1965" "0" "1965" "0" "c.1965C>T" "r.(?)" "p.(Thr655=)" "" "0000263117" "00003005" "30" "2064" "0" "2064" "0" "c.2064G>A" "r.(?)" "p.(Thr688=)" "" "0000263118" "00003005" "30" "2127" "0" "2127" "0" "c.2127C>T" "r.(?)" "p.(Ala709=)" "" "0000263119" "00003005" "30" "2337" "0" "2337" "0" "c.2337T>G" "r.(?)" "p.(Pro779=)" "" "0000263120" "00003005" "10" "2395" "0" "2395" "0" "c.2395G>T" "r.(?)" "p.(Asp799Tyr)" "" "0000263121" "00003005" "50" "2423" "0" "2423" "0" "c.2423C>A" "r.(?)" "p.(Pro808His)" "" "0000263122" "00003005" "10" "2444" "0" "2444" "0" "c.2444=" "r.(=)" "p.(Pro815=)" "" "0000263123" "00003005" "30" "24" "0" "24" "0" "c.24G>T" "r.(?)" "p.(Lys8Asn)" "" "0000263124" "00003005" "30" "252" "11" "252" "11" "c.252+11T>C" "r.(=)" "p.(=)" "" "0000263125" "00003005" "30" "2526" "0" "2526" "0" "c.2526T>C" "r.(?)" "p.(Asn842=)" "" "0000263126" "00003005" "30" "2618" "0" "2618" "0" "c.2618C>T" "r.(?)" "p.(Pro873Leu)" "" "0000263127" "00003005" "10" "2985" "0" "2985" "0" "c.2985C>T" "r.(?)" "p.(His995=)" "" "0000263128" "00003005" "50" "314" "0" "314" "0" "c.314C>T" "r.(?)" "p.(Thr105Met)" "" "0000263129" "00003005" "30" "3274" "0" "3274" "0" "c.3274G>A" "r.(?)" "p.(Val1092Met)" "" "0000263130" "00003005" "10" "3306" "0" "3306" "0" "c.3306G>T" "r.(?)" "p.(Glu1102Asp)" "" "0000263131" "00003005" "30" "3384" "0" "3384" "0" "c.3384C>T" "r.(?)" "p.(Asp1128=)" "" "0000263132" "00003005" "10" "3498" "0" "3498" "0" "c.3498C>G" "r.(?)" "p.(Ser1166Arg)" "" "0000263133" "00003005" "10" "3513" "0" "3513" "0" "c.3513G>A" "r.(?)" "p.(Arg1171=)" "" "0000263134" "00003005" "50" "3692" "0" "3692" "0" "c.3692C>T" "r.(?)" "p.(Ser1231Phe)" "" "0000263135" "00003005" "10" "374" "-9" "374" "-9" "c.374-9C>T" "r.(=)" "p.(=)" "" "0000263136" "00003005" "10" "3759" "0" "3759" "0" "c.3759T>C" "r.(?)" "p.(Ser1253=)" "" "0000263137" "00003005" "30" "3935" "0" "3935" "0" "c.3935C>T" "r.(?)" "p.(Ala1312Val)" "" "0000263138" "00003005" "50" "3947" "0" "3948" "0" "c.3947_3948delinsTT" "r.(?)" "p.(Arg1316Leu)" "" "0000263139" "00003005" "10" "3973" "0" "3973" "0" "c.3973C>T" "r.(?)" "p.(Leu1325Phe)" "" "0000263140" "00003005" "30" "4174" "0" "4174" "0" "c.4174C>T" "r.(?)" "p.(Pro1392Ser)" "" "0000263141" "00003005" "30" "4189" "0" "4189" "0" "c.4189G>A" "r.(?)" "p.(Gly1397Ser)" "" "0000263142" "00003005" "30" "4221" "0" "4221" "0" "c.4221C>T" "r.(?)" "p.(Asp1407=)" "" "0000263143" "00003005" "50" "4465" "0" "4465" "0" "c.4465T>C" "r.(?)" "p.(Ser1489Pro)" "" "0000263144" "00003005" "30" "4493" "0" "4493" "0" "c.4493C>T" "r.(?)" "p.(Thr1498Met)" "" "0000263145" "00003005" "30" "450" "0" "450" "0" "c.450C>T" "r.(?)" "p.(Asp150=)" "" "0000263146" "00003005" "10" "472" "-22" "472" "-22" "c.472-22T>C" "r.(=)" "p.(=)" "" "0000263147" "00003005" "10" "540" "0" "540" "0" "c.540C>T" "r.(?)" "p.(Asn180=)" "" "0000263148" "00003005" "10" "57" "19" "57" "19" "c.57+19G>A" "r.(=)" "p.(=)" "" "0000328338" "00003005" "30" "2513" "0" "2513" "0" "c.2513A>G" "r.(?)" "p.(Lys838Arg)" "" "0000328339" "00003005" "30" "3379" "0" "3379" "0" "c.3379G>A" "r.(?)" "p.(Asp1127Asn)" "" "0000328340" "00003005" "50" "3664" "0" "3664" "0" "c.3664T>G" "r.(?)" "p.(Ser1222Ala)" "" "0000328341" "00003005" "30" "3910" "0" "3910" "0" "c.3910C>G" "r.(?)" "p.(Leu1304Val)" "" "0000328343" "00003005" "50" "4297" "0" "4297" "0" "c.4297del" "r.(?)" "p.(Gln1433AsnfsTer17)" "" "0000337684" "00003005" "10" "374" "-9" "374" "-9" "c.374-9C>T" "r.(=)" "p.(=)" "" "0000337685" "00003005" "50" "883" "-2" "883" "-2" "c.883-2A>G" "r.spl?" "p.?" "" "0000337686" "00003005" "10" "4648" "0" "4648" "0" "c.*22A>G" "r.(=)" "p.(=)" "" "0000339808" "00003005" "10" "582" "0" "582" "0" "c.582C>T" "r.(?)" "p.(His194=)" "" "0000339809" "00003005" "10" "2985" "0" "2985" "0" "c.2985C>T" "r.(?)" "p.(His995=)" "" "0000339810" "00003005" "10" "3519" "0" "3519" "0" "c.3519G>A" "r.(?)" "p.(Leu1173=)" "" "0000339811" "00003005" "10" "3759" "0" "3759" "0" "c.3759T>C" "r.(?)" "p.(Ser1253=)" "" "0000341368" "00003005" "30" "947" "0" "947" "0" "c.947C>T" "r.(?)" "p.(Ala316Val)" "" "0000341689" "00003005" "70" "3202" "0" "3202" "0" "c.3202C>T" "r.(?)" "p.(Arg1068Ter)" "" "0000342831" "00003005" "90" "1210" "0" "1210" "0" "c.1210C>T" "r.(?)" "p.(Arg404Ter)" "" "0000343226" "00003005" "90" "1981" "0" "1981" "0" "c.1981A>T" "r.(?)" "p.(Arg661Ter)" "" "0000343522" "00003005" "90" "2893" "0" "2893" "0" "c.2893C>T" "r.(?)" "p.(Arg965Ter)" "" "0000344910" "00003005" "90" "1762" "0" "1762" "0" "c.1762C>T" "r.(?)" "p.(Gln588Ter)" "" "0000345059" "00003005" "10" "3306" "0" "3306" "0" "c.3306G>T" "r.(?)" "p.(Glu1102Asp)" "" "0000345545" "00003005" "90" "2317" "0" "2317" "0" "c.2317G>T" "r.(?)" "p.(Glu773Ter)" "" "0000346207" "00003005" "10" "1954" "0" "1954" "0" "c.1954G>A" "r.(?)" "p.(Gly652Ser)" "" "0000346881" "00003005" "10" "3973" "0" "3973" "0" "c.3973C>T" "r.(?)" "p.(Leu1325Phe)" "" "0000347304" "00003005" "90" "2324" "0" "2324" "0" "c.2324T>G" "r.(?)" "p.(Leu775Ter)" "" "0000347658" "00003005" "10" "2513" "0" "2513" "0" "c.2513A>G" "r.(?)" "p.(Lys838Arg)" "" "0000348682" "00003005" "10" "3692" "0" "3692" "0" "c.3692C>T" "r.(?)" "p.(Ser1231Phe)" "" "0000348976" "00003005" "90" "1175" "0" "1175" "0" "c.1175C>A" "r.(?)" "p.(Ser392Ter)" "" "0000351092" "00003005" "50" "472" "-2" "472" "-2" "c.472-2A>G" "r.spl?" "p.?" "" "0000368373" "00003005" "90" "3642" "0" "3645" "0" "c.3642_3645del" "r.(?)" "p.(His1214Glnfs*2)" "" "0000404688" "00003005" "90" "1210" "0" "1210" "0" "c.1210C>T" "r.(?)" "p.(Arg404*)" "12" "0000438219" "00003005" "70" "3856" "0" "3856" "0" "c.3856C>T" "r.(?)" "p.(Gln1286*)" "12" "0000438220" "00003005" "70" "4243" "0" "4243" "0" "c.4243C>T" "r.(?)" "p.(Arg1415*)" "12" "0000569328" "00003005" "30" "572" "0" "572" "0" "c.572C>T" "r.(?)" "p.(Ser191Leu)" "" "0000569329" "00003005" "50" "764" "0" "764" "0" "c.764C>T" "r.(?)" "p.(Pro255Leu)" "" "0000569332" "00003005" "30" "1429" "0" "1429" "0" "c.1429G>C" "r.(?)" "p.(Glu477Gln)" "" "0000569333" "00003005" "30" "1907" "0" "1907" "0" "c.1907C>T" "r.(?)" "p.(Ala636Val)" "" "0000569335" "00003005" "30" "1954" "0" "1954" "0" "c.1954G>A" "r.(?)" "p.(Gly652Ser)" "" "0000569338" "00003005" "30" "2544" "0" "2544" "0" "c.2544A>T" "r.(?)" "p.(Thr848=)" "" "0000569340" "00003005" "30" "3274" "0" "3274" "0" "c.3274G>A" "r.(?)" "p.(Val1092Met)" "" "0000569341" "00003005" "30" "3306" "0" "3306" "0" "c.3306G>T" "r.(?)" "p.(Glu1102Asp)" "" "0000569342" "00003005" "30" "3449" "0" "3449" "0" "c.3449G>T" "r.(?)" "p.(Gly1150Val)" "" "0000569343" "00003005" "30" "3482" "0" "3482" "0" "c.3482T>C" "r.(?)" "p.(Met1161Thr)" "" "0000569344" "00003005" "10" "3513" "0" "3513" "0" "c.3513G>A" "r.(?)" "p.(Arg1171=)" "" "0000569345" "00003005" "30" "3519" "0" "3519" "0" "c.3519G>A" "r.(?)" "p.(Leu1173=)" "" "0000569347" "00003005" "30" "3642" "0" "3642" "0" "c.3642T>G" "r.(?)" "p.(His1214Gln)" "" "0000569348" "00003005" "30" "3745" "0" "3745" "0" "c.3745A>G" "r.(?)" "p.(Met1249Val)" "" "0000569349" "00003005" "50" "3869" "0" "3869" "0" "c.3869C>T" "r.(?)" "p.(Ala1290Val)" "" "0000569350" "00003005" "30" "3939" "0" "3939" "0" "c.3939C>T" "r.(?)" "p.(Thr1313=)" "" "0000569351" "00003005" "30" "4183" "0" "4183" "0" "c.4183C>G" "r.(?)" "p.(Leu1395Val)" "" "0000569352" "00003005" "30" "4189" "0" "4189" "0" "c.4189G>A" "r.(?)" "p.(Gly1397Ser)" "" "0000618032" "00003005" "30" "2250" "0" "2250" "0" "c.2250C>T" "r.(?)" "p.(Pro750=)" "" "0000618033" "00003005" "90" "3201" "0" "3202" "0" "c.3201_3202del" "r.(?)" "p.(Arg1068SerfsTer18)" "" "0000624138" "00003005" "50" "3949" "0" "3949" "0" "c.3949C>A" "r.(?)" "p.(Pro1317Thr)" "" "0000650762" "00003005" "30" "3306" "0" "3306" "0" "c.3306G>T" "r.(?)" "p.(Glu1102Asp)" "" "0000650763" "00003005" "70" "3635" "0" "3635" "0" "c.3635C>T" "r.(?)" "p.(Ser1212Phe)" "" "0000650764" "00003005" "30" "6596" "0" "6596" "0" "c.*1970G>A" "r.(=)" "p.(=)" "" "0000658740" "00003005" "90" "2372" "0" "2373" "0" "c.2372_2373del" "r.(?)" "p.(Ser791TrpfsTer8)" "" "0000667486" "00003005" "90" "1544" "0" "1545" "0" "c.1544_1545del" "r.(?)" "p.(Val515Glyfs*13)" "" "0000667488" "00003005" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Gln373*)" "" "0000681581" "00003005" "30" "4344" "0" "4344" "0" "c.4344A>G" "r.(?)" "p.(Gln1448=)" "" "0000683292" "00003005" "70" "1129" "0" "1129" "0" "c.1129C>T" "r.(?)" "p.(Gln377*)" "" "0000692954" "00003005" "50" "1907" "0" "1907" "0" "c.1907C>T" "r.(?)" "p.(Ala636Val)" "" "0000692955" "00003005" "50" "4207" "0" "4207" "0" "c.4207C>T" "r.(?)" "p.(Pro1403Ser)" "" "0000692956" "00003005" "50" "4451" "0" "4451" "0" "c.4451A>G" "r.(?)" "p.(His1484Arg)" "" "0000727639" "00003005" "30" "2110" "0" "2110" "0" "c.2110G>A" "r.(?)" "p.(Gly704Arg)" "" "0000727640" "00003005" "90" "3596" "0" "3606" "0" "c.3596_3606del" "r.(?)" "p.(Ala1199GlufsTer9)" "" "0000788913" "00003005" "70" "4060" "0" "4060" "0" "c.4060G>T" "r.(?)" "p.(Glu1354Ter)" "" "0000809197" "00003005" "50" "236" "0" "236" "0" "c.236G>A" "r.(?)" "p.(Ser79Asn)" "" "0000809198" "00003005" "50" "1859" "0" "1859" "0" "c.1859G>A" "r.(?)" "p.(Arg620His)" "" "0000866409" "00003005" "30" "3935" "0" "3935" "0" "c.3935C>T" "r.(?)" "p.(Ala1312Val)" "" "0000895256" "00003005" "70" "1249" "0" "1249" "0" "c.1249C>T" "r.(?)" "p.(Arg417*)" "" "0000895257" "00003005" "10" "1429" "0" "1429" "0" "c.1429G>C" "r.(?)" "p.(Glu477Gln)" "" "0000895258" "00003005" "90" "1600" "0" "1609" "0" "c.1600_1609del" "r.(?)" "p.(Ser534Lysfs*166)" "" "0000895259" "00003005" "90" "1613" "0" "1616" "0" "c.1613_1616del" "r.(?)" "p.(Lys538Serfs*164)" "" "0000895260" "00003005" "50" "1766" "0" "1766" "0" "c.1766C>G" "r.(?)" "p.(Pro589Arg)" "" "0000895261" "00003005" "30" "2957" "0" "2957" "0" "c.2957A>G" "r.(?)" "p.(Asn986Ser)" "" "0000895262" "00003005" "10" "3384" "0" "3384" "0" "c.3384C>T" "r.(?)" "p.(Asp1128=)" "" "0000915357" "00003005" "30" "2623" "0" "2623" "0" "c.2623A>G" "r.(?)" "p.(Met875Val)" "" "0000926983" "00003005" "70" "802" "0" "803" "0" "c.802_803insGG" "r.(?)" "p.(Ile268Argfs*25)" "" "0000926984" "00003005" "70" "803" "0" "804" "0" "c.803_804insGCCAACAC" "r.(?)" "p.(Ile268Metfs*27)" "" "0000933201" "00003005" "70" "1720" "-2" "1720" "-2" "c.1720-2A>G" "r.spl" "p.?" "" "0000939800" "00003005" "70" "3769" "0" "3769" "0" "c.3769del" "r.(?)" "p.(Ala1257LeufsTer23)" "12" "0000983762" "00003005" "10" "374" "-9" "374" "-9" "c.374-9C>T" "r.(=)" "p.(=)" "" "0000983763" "00003005" "10" "1954" "0" "1954" "0" "c.1954G>A" "r.(?)" "p.(Gly652Ser)" "" "0000983764" "00003005" "50" "2181" "0" "2183" "0" "c.2181_2183del" "r.(?)" "p.(Glu728del)" "" "0001005319" "00003005" "30" "581" "0" "581" "0" "c.581A>G" "r.(?)" "p.(His194Arg)" "" "0001005320" "00003005" "30" "652" "0" "652" "0" "c.652C>A" "r.(?)" "p.(Arg218Ser)" "" "0001005321" "00003005" "30" "656" "0" "656" "0" "c.656G>T" "r.(?)" "p.(Gly219Val)" "" "0001005322" "00003005" "30" "1459" "0" "1459" "0" "c.1459G>A" "r.(?)" "p.(Ala487Thr)" "" "0001005323" "00003005" "50" "1787" "0" "1787" "0" "c.1787G>A" "r.(?)" "p.(Arg596Gln)" "" "0001005324" "00003005" "30" "2338" "0" "2338" "0" "c.2338C>G" "r.(?)" "p.(Gln780Glu)" "" "0001005325" "00003005" "30" "2537" "0" "2537" "0" "c.2537G>T" "r.(?)" "p.(Ser846Ile)" "" "0001005326" "00003005" "30" "2708" "0" "2708" "0" "c.2708C>T" "r.(?)" "p.(Ser903Leu)" "" "0001005327" "00003005" "30" "2935" "0" "2935" "0" "c.2935G>A" "r.(?)" "p.(Asp979Asn)" "" "0001005328" "00003005" "30" "2957" "0" "2957" "0" "c.2957A>G" "r.(?)" "p.(Asn986Ser)" "" "0001005329" "00003005" "30" "3041" "0" "3041" "0" "c.3041G>A" "r.(?)" "p.(Ser1014Asn)" "" "0001005330" "00003005" "30" "3406" "0" "3406" "0" "c.3406G>C" "r.(?)" "p.(Val1136Leu)" "" "0001005331" "00003005" "50" "3655" "0" "3655" "0" "c.3655C>T" "r.(?)" "p.(Pro1219Ser)" "" "0001005332" "00003005" "30" "4493" "0" "4493" "0" "c.4493C>T" "r.(?)" "p.(Thr1498Met)" "" "0001015855" "00003005" "30" "4247" "0" "4247" "0" "c.4247A>G" "r.(?)" "p.(Glu1416Gly)" "" "0001027306" "00003005" "50" "1895" "0" "1895" "0" "c.1895G>A" "r.(?)" "p.(Cys632Tyr)" "" "0001043298" "00003005" "30" "540" "0" "540" "0" "c.540C>T" "r.(?)" "p.(Asn180=)" "" "0001043299" "00003005" "30" "582" "0" "582" "0" "c.582C>T" "r.(?)" "p.(His194=)" "" "0001043300" "00003005" "30" "2985" "0" "2985" "0" "c.2985C>T" "r.(?)" "p.(His995=)" "" "0001043301" "00003005" "30" "3401" "0" "3401" "0" "c.3401C>T" "r.(?)" "p.(Pro1134Leu)" "" "0001043302" "00003005" "30" "3513" "0" "3513" "0" "c.3513G>A" "r.(?)" "p.(Arg1171=)" "" "0001043303" "00003005" "30" "3519" "0" "3519" "0" "c.3519G>A" "r.(?)" "p.(Leu1173=)" "" "0001043304" "00003005" "10" "3692" "0" "3692" "0" "c.3692C>T" "r.(?)" "p.(Ser1231Phe)" "" "0001046770" "00003005" "30" "2957" "0" "2957" "0" "c.2957A>G" "r.(?)" "p.(Asn986Ser)" "" "0001046974" "00003005" "50" "4343" "0" "4343" "0" "c.4343A>G" "r.(?)" "p.(Gln1448Arg)" "13" "0001056868" "00003005" "50" "154" "0" "154" "0" "c.154C>G" "r.(?)" "p.(Pro52Ala)" "" "0001056869" "00003005" "50" "472" "-2" "472" "-2" "c.472-2A>G" "r.spl?" "p.?" "" "0001056870" "00003005" "30" "1965" "0" "1965" "0" "c.1965C>T" "r.(?)" "p.(Thr655=)" "" "0001056871" "00003005" "30" "2634" "0" "2634" "0" "c.2634T>A" "r.(?)" "p.(Ser878Arg)" "" "0001056872" "00003005" "50" "3005" "0" "3005" "0" "c.3005C>A" "r.(?)" "p.(Ala1002Asp)" "" "0001056873" "00003005" "50" "3083" "0" "3083" "0" "c.3083C>T" "r.(?)" "p.(Ser1028Leu)" "" "0001056874" "00003005" "30" "3973" "0" "3973" "0" "c.3973C>T" "r.(?)" "p.(Leu1325Phe)" "" "0001056875" "00003005" "50" "4109" "0" "4109" "0" "c.4109A>G" "r.(?)" "p.(Glu1370Gly)" "" "0001058443" "00003005" "90" "1924" "0" "1924" "0" "c.1924G>T" "r.(?)" "p.(Gly642Ter)" "" "0001058444" "00003005" "90" "1210" "0" "1210" "0" "c.1210C>T" "r.(?)" "p.(Arg404Ter)" "" "0001058445" "00003005" "90" "4060" "0" "4060" "0" "c.4060G>T" "r.(?)" "p.(Glu1354Ter)" "" "0001058446" "00003005" "90" "2416" "0" "2417" "0" "c.2416_2417dup" "r.(?)" "p.(Val807ProfsTer12)" "" "0001067313" "00003005" "30" "57" "3" "57" "3" "c.57+3G>C" "r.spl?" "p.?" "" "0001067315" "00003005" "30" "4112" "0" "4114" "0" "c.4112_4114del" "r.(?)" "p.(Lys1371del)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 25 "{{screeningid}}" "{{variantid}}" "0000118347" "0000194443" "0000118348" "0000194444" "0000118349" "0000194445" "0000118350" "0000194446" "0000118351" "0000194447" "0000118352" "0000194448" "0000118353" "0000194449" "0000164771" "0000368373" "0000181052" "0000404688" "0000208382" "0000438219" "0000208385" "0000438220" "0000294073" "0000650762" "0000294074" "0000650763" "0000294075" "0000650764" "0000304088" "0000667486" "0000304090" "0000667488" "0000308858" "0000683292" "0000376858" "0000788913" "0000437778" "0000933201" "0000441858" "0000939800" "0000467712" "0001046974" "0000470321" "0001058443" "0000470322" "0001058444" "0000470323" "0001058445" "0000470324" "0001058446"