### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DNMT1) # 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}}" "DNMT1" "DNA (cytosine-5-)-methyltransferase 1" "19" "p13.2" "unknown" "NG_028016.3" "UD_131132188120" "" "https://www.LOVD.nl/DNMT1" "" "1" "2976" "1786" "126375" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2011-07-22 00:00:00" "00006" "2017-09-04 12:30:21" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00006604" "DNMT1" "transcript variant 2" "001" "NM_001379.2" "" "NP_001370.1" "" "" "" "-180" "5172" "4851" "10305755" "10244022" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00318" "cancer, breast" "cancer, breast" "" "" "" "" "" "00006" "2014-02-02 14:42:53" "00006" "2019-08-28 08:24:47" "02478" "ADCADN" "ataxia, cerebellar, deafness, and narcolepsy, autosomal dominant" "AD" "604121" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03555" "HSN1E" "neuropathy, sensory, hereditary, type IE (HSN-1E)" "AD" "614116" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05122" "HSN" "neuropathy, sensory, hereditary (HSN)" "" "" "" "" "" "00006" "2016-01-24 01:36:12" "00006" "2020-04-22 19:42:45" "05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "DNMT1" "02478" "DNMT1" "03555" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00117891" "" "" "" "1" "" "00002" "{PMID:Klein 2011:21532572}" "" "F" "" "" "" "0" "" "" "Europe" "" "00117892" "" "" "" "1" "" "00002" "{PMID:Klein 2011:21532572}" "" "M" "" "" "" "0" "" "" "America" "" "00117893" "" "" "" "1" "" "00002" "{PMID:Klein 2011:21532572}" "" "F" "" "" "" "0" "" "" "America" "" "00117894" "" "" "" "1" "" "00002" "{PMID:Klein 2011:21532572}" "" "M" "" "Japan" "" "0" "" "" "" "" "00248180" "" "" "" "1" "" "01474" "{PMID:Lhota 2016:26822949}" "analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2" "F" "no" "Czech Republic" "" "0" "" "" "" "" "00292012" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00334878" "" "" "" "1" "" "03286" "{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}" "" "F" "no" "Italy" "" "0" "" "" "" "PME27" "00408943" "" "" "" "1" "" "00000" "{PMID:Lerat-2019:31393079}" "" "M" "" "France" "" "0" "" "" "French" "VI" "00419484" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "9130" "00461021" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00117891" "05122" "00117892" "05122" "00117893" "05122" "00117894" "05122" "00248180" "00318" "00292012" "00198" "00334878" "05162" "00408943" "04214" "00419484" "00198" "00461021" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00318, 02478, 03555, 04214, 05122, 05162 ## Count = 8 "{{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}}" "0000093272" "05122" "00117891" "00002" "Unknown" "" "extremity sensory loss; Cerebellar ataxia; Dementia onset 30s" "16y" "" "hearing loss" "" "" "" "" "" "" "" "" "0000093273" "05122" "00117892" "00002" "Unknown" "" "extremity sensory loss; dementia onset 40s; death 48y" "35y" "" "hearing loss" "" "" "" "" "" "" "" "" "0000093274" "05122" "00117893" "00002" "Unknown" "" "extremity sensory loss; Cerebellar ataxia; Dementia onset 40s; Death 44y" "30y-39y" "" "loss of sensation, hearing loss" "" "" "" "" "" "" "" "" "0000093275" "05122" "00117894" "00002" "Unknown" "" "extremity sensory loss; Dementia onset 30s" "30y-39y" "" "loss of sensation, hearing loss" "" "" "" "" "" "" "" "" "0000187189" "00318" "00248180" "01474" "Unknown" "" "26y ductal breast cancer, subtype luminal B" "26y" "" "" "" "" "" "" "" "" "breast cancer" "" "0000257419" "05162" "00334878" "00006" "Isolated (sporadic)" "" "Onset age 21 of tremor, daily myoclonus from 35 years of age, slowly progressive ataxia from 37 years of age. Single TCS. Normal developmental history, normal cognition. Multiple co-morbidities including bilateral deafness, cataracts, retinal dystrophy, dolicocolon, atonic bladder, hashimoto\'s thyroiditis, polycystic kidney disease. MRI: cerebellar atrophy." "" "" "" "" "" "" "" "" "" "late onset progressive myoclonus epilepsy" "" "0000301061" "04214" "00408943" "00000" "Familial, autosomal dominant" "88y" "ataxia, alzheimer disease" "72y" "" "Sensori?motor Demyelinating, pes cavus" "" "" "" "" "" "" "inherited peripheral neuropathy (IPN)" "" "0000310765" "00198" "00419484" "02300" "Isolated (sporadic)" "34y" "" "" "" "" "" "" "" "" "" "" "neuromuscular abnormality" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000118354" "00117891" "1" "00002" "00006" "2011-07-22 10:16:59" "" "" "SEQ" "DNA" "" "" "0000118355" "00117892" "1" "00002" "00006" "2011-07-22 10:16:59" "" "" "SEQ" "DNA" "" "" "0000118356" "00117893" "1" "00002" "00006" "2011-07-22 10:16:59" "" "" "SEQ" "DNA" "" "" "0000118357" "00117894" "1" "00002" "00006" "2011-07-22 10:16:59" "" "" "SEQ" "DNA" "" "" "0000249285" "00248180" "1" "01474" "00006" "2015-12-04 13:41:45" "" "" "SEQ-NG-S" "DNA" "blood" "581 gene panel" "0000293180" "00292012" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000336107" "00334878" "1" "03286" "03286" "2021-03-02 09:50:43" "00006" "2021-04-14 09:22:08" "SEQ;SEQ-NG" "DNA" "WES" "" "0000410208" "00408943" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;SEQ-NG" "DNA" "peripheral blood" "" "0000420788" "00419484" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical exome sequencing" "0000462653" "00461021" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "mRNA splicing analysis on tissue" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000118354" "DNMT1" "0000118355" "DNMT1" "0000118356" "DNMT1" "0000118357" "DNMT1" "0000410208" "DNMT1" "0000462653" "DNMT1" ## 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 = 207 "{{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}}" "0000194450" "20" "97" "19" "10265705" "10265707" "delins" "0" "00002" "DNMT1_000002" "g.10265705_10265707delinsTAT" "" "{PMID:Klein 2011:21532572}" "" "1470-1472TCC>ATA; Asp490Glu-Pro491Tyr" "" "Germline" "" "" "0" "" "" "g.10155029_10155031delinsTAT" "" "pathogenic" "" "0000194451" "20" "97" "19" "10265693" "10265693" "subst" "0" "00002" "DNMT1_000001" "g.10265693T>C" "" "{PMID:Klein 2011:21532572}" "" "" "" "Germline" "" "" "0" "" "" "g.10155017T>C" "" "pathogenic" "" "0000194452" "20" "97" "19" "10265693" "10265693" "subst" "0" "00002" "DNMT1_000001" "g.10265693T>C" "" "{PMID:Klein 2011:21532572}" "" "" "" "Germline" "" "" "0" "" "" "g.10155017T>C" "" "pathogenic" "" "0000194453" "20" "97" "19" "10265693" "10265693" "subst" "0" "00002" "DNMT1_000001" "g.10265693T>C" "" "{PMID:Klein 2011:21532572}" "" "" "" "Germline" "" "" "0" "" "" "g.10155017T>C" "" "pathogenic" "" "0000247550" "0" "10" "19" "10270757" "10270757" "del" "0" "02330" "DNMT1_000029" "g.10270757del" "" "" "" "DNMT1(NM_001130823.1):c.1044-8del (p.(=)), DNMT1(NM_001130823.1):c.1044-8delT, DNMT1(NM_001130823.3):c.1044-8delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10160081del" "" "benign" "" "0000247619" "0" "30" "19" "10283754" "10283754" "subst" "0.00102363" "02330" "DNMT1_000043" "g.10283754A>T" "" "" "" "DNMT1(NM_001130823.1):c.768+12T>A, DNMT1(NM_001130823.3):c.768+12T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10173078A>T" "" "likely benign" "" "0000249241" "0" "10" "19" "10270757" "10270757" "del" "0" "02325" "DNMT1_000035" "g.10270757del" "" "" "" "DNMT1(NM_001130823.1):c.1044-8del (p.(=)), DNMT1(NM_001130823.1):c.1044-8delT, DNMT1(NM_001130823.3):c.1044-8delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10160081del" "" "benign" "" "0000250684" "0" "30" "19" "10270757" "10270757" "del" "0" "02326" "DNMT1_000029" "g.10270757del" "" "" "" "DNMT1(NM_001130823.1):c.1044-8del (p.(=)), DNMT1(NM_001130823.1):c.1044-8delT, DNMT1(NM_001130823.3):c.1044-8delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10160081del" "" "likely benign" "" "0000253036" "0" "10" "19" "10270757" "10270757" "del" "0" "01943" "DNMT1_000029" "g.10270757del" "" "" "" "DNMT1(NM_001130823.1):c.1044-8del (p.(=)), DNMT1(NM_001130823.1):c.1044-8delT, DNMT1(NM_001130823.3):c.1044-8delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10160081del" "" "benign" "" "0000254452" "0" "30" "19" "10247822" "10247822" "subst" "0.0024156" "01943" "DNMT1_000003" "g.10247822A>C" "" "" "" "DNMT1(NM_001130823.1):c.4428T>G (p.(His1476Gln), p.H1476Q), DNMT1(NM_001130823.3):c.4428T>G (p.H1476Q), DNMT1(NM_001379.3):c.4380T>G (p.H1460Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10137146A>C" "" "likely benign" "" "0000255323" "0" "30" "19" "10292698" "10292698" "subst" "0.00893032" "01943" "DNMT1_000050" "g.10292698A>G" "" "" "" "DNMT1(NM_001130823.1):c.117+19T>C, DNMT1(NM_001130823.3):c.117+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10182022A>G" "" "likely benign" "" "0000265396" "0" "10" "19" "10270756" "10270757" "del" "0" "02330" "DNMT1_000030" "g.10270756_10270757del" "" "" "" "DNMT1(NM_001130823.1):c.1044-9_1044-8del (p.(=)), DNMT1(NM_001130823.1):c.1044-9_1044-8delTT, DNMT1(NM_001130823.3):c.1044-9_1044-8delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10160080_10160081del" "" "benign" "" "0000265398" "0" "10" "19" "10267077" "10267077" "subst" "0.518604" "02330" "DNMT1_000028" "g.10267077T>C" "" "" "" "DNMT1(NM_001130823.1):c.1389A>G (p.P463=), DNMT1(NM_001130823.3):c.1389A>G (p.P463=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10156401T>C" "" "benign" "" "0000265399" "0" "30" "19" "10291529" "10291529" "subst" "0.00140225" "02330" "DNMT1_000049" "g.10291529G>A" "" "" "" "DNMT1(NM_001130823.1):c.150C>T (p.H50=), DNMT1(NM_001130823.3):c.150C>T (p.H50=), DNMT1(NM_001379.3):c.150C>T (p.H50=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10180853G>A" "" "likely benign" "" "0000265400" "0" "10" "19" "10265593" "10265593" "subst" "0.0709941" "02330" "DNMT1_000026" "g.10265593G>T" "" "" "" "DNMT1(NM_001130823.1):c.1632C>A (p.I544=), DNMT1(NM_001130823.3):c.1632C>A (p.I544=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10154917G>T" "" "benign" "" "0000265401" "0" "10" "19" "10265312" "10265312" "subst" "0.990815" "02330" "DNMT1_000025" "g.10265312T>C" "" "" "" "DNMT1(NM_001130823.1):c.1782A>G (p.T594=), DNMT1(NM_001130823.3):c.1782A>G (p.T594=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10154636T>C" "" "benign" "" "0000265402" "0" "10" "19" "10265248" "10265248" "subst" "0.518097" "02330" "DNMT1_000024" "g.10265248T>C" "" "" "" "DNMT1(NM_001130823.1):c.1832+14A>G, DNMT1(NM_001130823.3):c.1832+14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10154572T>C" "" "benign" "" "0000265403" "0" "10" "19" "10291473" "10291473" "subst" "0.0102246" "02330" "DNMT1_000047" "g.10291473C>T" "" "" "" "DNMT1(NM_001130823.1):c.206G>A (p.R69H, p.(Arg69His)), DNMT1(NM_001130823.3):c.206G>A (p.R69H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10180797C>T" "" "benign" "" "0000265404" "0" "30" "19" "10262413" "10262413" "subst" "0.0015924" "02330" "DNMT1_000022" "g.10262413C>T" "" "" "" "DNMT1(NM_001130823.1):c.2117+13G>A, DNMT1(NM_001130823.3):c.2117+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10151737C>T" "" "likely benign" "" "0000265405" "0" "10" "19" "10252692" "10252692" "subst" "0" "02330" "DNMT1_000010" "g.10252692C>T" "" "" "" "DNMT1(NM_001130823.3):c.3309+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10142016C>T" "" "benign" "" "0000265406" "0" "10" "19" "10250361" "10250361" "subst" "0.00924404" "02330" "DNMT1_000007" "g.10250361G>A" "" "" "" "DNMT1(NM_001130823.1):c.3939C>T (p.G1313=), DNMT1(NM_001130823.3):c.3939C>T (p.G1313=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10139685G>A" "" "benign" "" "0000265407" "0" "30" "19" "10283748" "10283748" "subst" "0.00102357" "02330" "DNMT1_000042" "g.10283748G>T" "" "" "" "DNMT1(NM_001130823.1):c.768+18C>A, DNMT1(NM_001130823.3):c.768+18C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10173072G>T" "" "likely benign" "" "0000265408" "0" "50" "19" "10273374" "10273374" "subst" "8.93423E-5" "02330" "DNMT1_000037" "g.10273374T>G" "" "" "" "DNMT1(NM_001130823.1):c.977A>C (p.Q326P), DNMT1(NM_001130823.3):c.977A>C (p.Q326P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10162698T>G" "" "VUS" "" "0000265409" "0" "10" "19" "10273372" "10273372" "subst" "0.137511" "02330" "DNMT1_000036" "g.10273372T>C" "" "" "" "DNMT1(NM_001130823.1):c.979A>G (p.I327V), DNMT1(NM_001130823.3):c.979A>G (p.I327V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10162696T>C" "" "benign" "" "0000267476" "0" "10" "19" "10265312" "10265312" "subst" "0.990815" "02325" "DNMT1_000025" "g.10265312T>C" "" "" "" "DNMT1(NM_001130823.1):c.1782A>G (p.T594=), DNMT1(NM_001130823.3):c.1782A>G (p.T594=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10154636T>C" "" "benign" "" "0000267477" "0" "10" "19" "10265044" "10265044" "subst" "0.00460083" "02325" "DNMT1_000023" "g.10265044G>A" "" "" "" "DNMT1(NM_001130823.1):c.1944C>T (p.F648=), DNMT1(NM_001130823.3):c.1944C>T (p.F648=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10154368G>A" "" "benign" "" "0000267478" "0" "30" "19" "10291475" "10291475" "subst" "1.21903E-5" "02325" "DNMT1_000048" "g.10291475T>C" "" "" "" "DNMT1(NM_001130823.3):c.204A>G (p.L68=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10180799T>C" "" "likely benign" "" "0000270833" "0" "10" "19" "10270756" "10270757" "del" "0" "02326" "DNMT1_000030" "g.10270756_10270757del" "" "" "" "DNMT1(NM_001130823.1):c.1044-9_1044-8del (p.(=)), DNMT1(NM_001130823.1):c.1044-9_1044-8delTT, DNMT1(NM_001130823.3):c.1044-9_1044-8delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10160080_10160081del" "" "benign" "" "0000270834" "0" "30" "19" "10291473" "10291473" "subst" "0.0102246" "02326" "DNMT1_000047" "g.10291473C>T" "" "" "" "DNMT1(NM_001130823.1):c.206G>A (p.R69H, p.(Arg69His)), DNMT1(NM_001130823.3):c.206G>A (p.R69H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10180797C>T" "" "likely benign" "" "0000275422" "0" "30" "19" "10270756" "10270757" "del" "0" "01943" "DNMT1_000030" "g.10270756_10270757del" "" "" "" "DNMT1(NM_001130823.1):c.1044-9_1044-8del (p.(=)), DNMT1(NM_001130823.1):c.1044-9_1044-8delTT, DNMT1(NM_001130823.3):c.1044-9_1044-8delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10160080_10160081del" "" "likely benign" "" "0000275423" "0" "10" "19" "10267077" "10267077" "subst" "0.518604" "01943" "DNMT1_000028" "g.10267077T>C" "" "" "" "DNMT1(NM_001130823.1):c.1389A>G (p.P463=), DNMT1(NM_001130823.3):c.1389A>G (p.P463=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10156401T>C" "" "benign" "" "0000275424" "0" "30" "19" "10265725" "10265725" "subst" "0.00893996" "01943" "DNMT1_000027" "g.10265725G>A" "" "" "" "DNMT1(NM_001130823.1):c.1500C>T (p.A500=), DNMT1(NM_001130823.3):c.1500C>T (p.A500=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10155049G>A" "" "likely benign" "" "0000275425" "0" "10" "19" "10265593" "10265593" "subst" "0.0709941" "01943" "DNMT1_000026" "g.10265593G>T" "" "" "" "DNMT1(NM_001130823.1):c.1632C>A (p.I544=), DNMT1(NM_001130823.3):c.1632C>A (p.I544=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10154917G>T" "" "benign" "" "0000275426" "0" "10" "19" "10265312" "10265312" "subst" "0.990815" "01943" "DNMT1_000025" "g.10265312T>C" "" "" "" "DNMT1(NM_001130823.1):c.1782A>G (p.T594=), DNMT1(NM_001130823.3):c.1782A>G (p.T594=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10154636T>C" "" "benign" "" "0000275427" "0" "10" "19" "10265248" "10265248" "subst" "0.518097" "01943" "DNMT1_000024" "g.10265248T>C" "" "" "" "DNMT1(NM_001130823.1):c.1832+14A>G, DNMT1(NM_001130823.3):c.1832+14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10154572T>C" "" "benign" "" "0000275428" "0" "10" "19" "10291473" "10291473" "subst" "0.0102246" "01943" "DNMT1_000047" "g.10291473C>T" "" "" "" "DNMT1(NM_001130823.1):c.206G>A (p.R69H, p.(Arg69His)), DNMT1(NM_001130823.3):c.206G>A (p.R69H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10180797C>T" "" "benign" "" "0000275429" "0" "30" "19" "10262413" "10262413" "subst" "0.0015924" "01943" "DNMT1_000022" "g.10262413C>T" "" "" "" "DNMT1(NM_001130823.1):c.2117+13G>A, DNMT1(NM_001130823.3):c.2117+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10151737C>T" "" "likely benign" "" "0000275430" "0" "30" "19" "10260624" "10260624" "subst" "2.03047E-5" "01943" "DNMT1_000020" "g.10260624G>A" "" "" "" "DNMT1(NM_001130823.1):c.2286C>T (p.Y762=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10149948G>A" "" "likely benign" "" "0000275431" "0" "30" "19" "10260337" "10260337" "subst" "0.00891221" "01943" "DNMT1_000019" "g.10260337G>A" "" "" "" "DNMT1(NM_001130823.1):c.2382-4C>T (p.?), DNMT1(NM_001130823.3):c.2382-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10149661G>A" "" "likely benign" "" "0000275432" "0" "30" "19" "10260243" "10260243" "subst" "0.000406501" "01943" "DNMT1_000018" "g.10260243C>T" "" "" "" "DNMT1(NM_001130823.1):c.2472G>A (p.T824=), DNMT1(NM_001130823.3):c.2472G>A (p.T824=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10149567C>T" "" "likely benign" "" "0000275433" "0" "50" "19" "10259654" "10259654" "subst" "0.00047515" "01943" "DNMT1_000017" "g.10259654C>T" "" "" "" "DNMT1(NM_001130823.3):c.2626G>A (p.G876R), DNMT1(NM_001379.3):c.2578G>A (p.G860R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10148978C>T" "" "VUS" "" "0000275434" "0" "30" "19" "10259604" "10259604" "subst" "0.000268007" "01943" "DNMT1_000016" "g.10259604G>A" "" "" "" "DNMT1(NM_001130823.1):c.2676C>T (p.F892=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10148928G>A" "" "likely benign" "" "0000275435" "0" "30" "19" "10251777" "10251777" "subst" "2.43797E-5" "01943" "DNMT1_000009" "g.10251777G>A" "" "" "" "DNMT1(NM_001130823.1):c.3394+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10141101G>A" "" "likely benign" "" "0000275436" "0" "30" "19" "10251451" "10251451" "subst" "0.00010176" "01943" "DNMT1_000008" "g.10251451G>A" "" "" "" "DNMT1(NM_001130823.1):c.3523+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10140775G>A" "" "likely benign" "" "0000275437" "0" "10" "19" "10250361" "10250361" "subst" "0.00924404" "01943" "DNMT1_000007" "g.10250361G>A" "" "" "" "DNMT1(NM_001130823.1):c.3939C>T (p.G1313=), DNMT1(NM_001130823.3):c.3939C>T (p.G1313=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10139685G>A" "" "benign" "" "0000275438" "0" "30" "19" "10247973" "10247975" "delins" "0" "01943" "DNMT1_000005" "g.10247973_10247975delinsTGG" "" "" "" "DNMT1(NM_001130823.1):c.4294-19_4294-17delGCCinsCCA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10137297_10137299delinsTGG" "" "likely benign" "" "0000275439" "0" "30" "19" "10247882" "10247882" "subst" "0.000209772" "01943" "DNMT1_000004" "g.10247882G>A" "" "" "" "DNMT1(NM_001130823.1):c.4368C>T (p.P1456=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10137206G>A" "" "likely benign" "" "0000275440" "0" "30" "19" "10290855" "10290855" "subst" "0.00098285" "01943" "DNMT1_000045" "g.10290855G>A" "" "" "" "DNMT1(NM_001130823.1):c.493+8C>T (p.(=)), DNMT1(NM_001130823.3):c.493+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10180179G>A" "" "likely benign" "" "0000275441" "0" "50" "19" "10273413" "10273413" "subst" "8.12143E-6" "01943" "DNMT1_000038" "g.10273413C>T" "" "" "" "DNMT1(NM_001130823.1):c.938G>A (p.R313Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10162737C>T" "" "VUS" "" "0000275442" "0" "10" "19" "10273372" "10273372" "subst" "0.137511" "01943" "DNMT1_000036" "g.10273372T>C" "" "" "" "DNMT1(NM_001130823.1):c.979A>G (p.I327V), DNMT1(NM_001130823.3):c.979A>G (p.I327V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10162696T>C" "" "benign" "" "0000326146" "0" "30" "19" "10247822" "10247822" "subst" "0.0024156" "01804" "DNMT1_000003" "g.10247822A>C" "" "" "" "DNMT1(NM_001130823.1):c.4428T>G (p.(His1476Gln), p.H1476Q), DNMT1(NM_001130823.3):c.4428T>G (p.H1476Q), DNMT1(NM_001379.3):c.4380T>G (p.H1460Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10137146A>C" "" "likely benign" "" "0000326149" "0" "30" "19" "10252751" "10252751" "subst" "6.92222E-5" "01804" "DNMT1_000012" "g.10252751C>T" "" "" "" "DNMT1(NM_001130823.1):c.3262G>A (p.(Val1088Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10142075C>T" "" "likely benign" "" "0000326150" "0" "50" "19" "10252829" "10252829" "subst" "2.84317E-5" "01804" "DNMT1_000013" "g.10252829C>T" "" "" "" "DNMT1(NM_001130823.1):c.3184G>A (p.(Asp1062Asn)), DNMT1(NM_001130823.3):c.3184G>A (p.D1062N), DNMT1(NM_001379.3):c.3136G>A (p.D1046N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10142153C>T" "" "VUS" "" "0000326151" "0" "50" "19" "10252874" "10252874" "subst" "8.12321E-6" "01804" "DNMT1_000014" "g.10252874T>C" "" "" "" "DNMT1(NM_001130823.1):c.3139A>G (p.(Thr1047Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10142198T>C" "" "VUS" "" "0000326153" "0" "30" "19" "10260337" "10260337" "subst" "0.00891221" "01804" "DNMT1_000019" "g.10260337G>A" "" "" "" "DNMT1(NM_001130823.1):c.2382-4C>T (p.?), DNMT1(NM_001130823.3):c.2382-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10149661G>A" "" "likely benign" "" "0000326155" "0" "30" "19" "10270757" "10270757" "del" "0" "01804" "DNMT1_000032" "g.10270757del" "" "" "" "DNMT1(NM_001130823.1):c.1044-8del (p.(=)), DNMT1(NM_001130823.1):c.1044-8delT, DNMT1(NM_001130823.3):c.1044-8delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10160081del" "" "likely benign" "" "0000326156" "0" "30" "19" "10270756" "10270757" "del" "0" "01804" "DNMT1_000033" "g.10270756_10270757del" "" "" "" "DNMT1(NM_001130823.1):c.1044-9_1044-8del (p.(=)), DNMT1(NM_001130823.1):c.1044-9_1044-8delTT, DNMT1(NM_001130823.3):c.1044-9_1044-8delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10160080_10160081del" "" "likely benign" "" "0000326158" "0" "30" "19" "10277266" "10277266" "subst" "0.00484865" "01804" "DNMT1_000039" "g.10277266G>A" "" "" "" "DNMT1(NM_001130823.1):c.891+8C>T (p.(=)), DNMT1(NM_001130823.3):c.891+8C>T, DNMT1(NM_001379.3):c.843+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10166590G>A" "" "likely benign" "" "0000326159" "0" "50" "19" "10279008" "10279008" "subst" "4.06095E-6" "01804" "DNMT1_000040" "g.10279008T>C" "" "" "" "DNMT1(NM_001130823.1):c.801A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10168332T>C" "" "VUS" "" "0000326160" "0" "50" "19" "10279024" "10279024" "subst" "4.06098E-6" "01804" "DNMT1_000041" "g.10279024C>T" "" "" "" "DNMT1(NM_001130823.1):c.785G>A (p.(Arg262Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10168348C>T" "" "VUS" "" "0000326161" "0" "50" "19" "10283803" "10283803" "subst" "0.00111274" "01804" "DNMT1_000044" "g.10283803C>T" "" "" "" "DNMT1(NM_001130823.1):c.731G>A (p.(Gly244Glu)), DNMT1(NM_001130823.3):c.731G>A (p.G244E), DNMT1(NM_001379.3):c.683G>A (p.G228E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10173127C>T" "" "VUS" "" "0000326162" "0" "30" "19" "10290855" "10290855" "subst" "0.00098285" "01804" "DNMT1_000045" "g.10290855G>A" "" "" "" "DNMT1(NM_001130823.1):c.493+8C>T (p.(=)), DNMT1(NM_001130823.3):c.493+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10180179G>A" "" "likely benign" "" "0000336898" "0" "10" "19" "10265248" "10265248" "subst" "0.518097" "02327" "DNMT1_000024" "g.10265248T>C" "" "" "" "DNMT1(NM_001130823.1):c.1832+14A>G, DNMT1(NM_001130823.3):c.1832+14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10154572T>C" "" "benign" "" "0000340827" "0" "10" "19" "10265593" "10265593" "subst" "0.0709941" "02327" "DNMT1_000026" "g.10265593G>T" "" "" "" "DNMT1(NM_001130823.1):c.1632C>A (p.I544=), DNMT1(NM_001130823.3):c.1632C>A (p.I544=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10154917G>T" "" "benign" "" "0000340918" "0" "10" "19" "10267077" "10267077" "subst" "0.518604" "02327" "DNMT1_000028" "g.10267077T>C" "" "" "" "DNMT1(NM_001130823.1):c.1389A>G (p.P463=), DNMT1(NM_001130823.3):c.1389A>G (p.P463=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10156401T>C" "" "benign" "" "0000341017" "0" "10" "19" "10265312" "10265312" "subst" "0.990815" "02327" "DNMT1_000025" "g.10265312T>C" "" "" "" "DNMT1(NM_001130823.1):c.1782A>G (p.T594=), DNMT1(NM_001130823.3):c.1782A>G (p.T594=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10154636T>C" "" "benign" "" "0000346688" "0" "10" "19" "10273372" "10273372" "subst" "0.137511" "02327" "DNMT1_000036" "g.10273372T>C" "" "" "" "DNMT1(NM_001130823.1):c.979A>G (p.I327V), DNMT1(NM_001130823.3):c.979A>G (p.I327V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10162696T>C" "" "benign" "" "0000565494" "0" "30" "19" "10246788" "10246788" "subst" "0.000122174" "01943" "DNMT1_000053" "g.10246788C>T" "" "" "" "DNMT1(NM_001379.3):c.4608+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10136112C>T" "" "likely benign" "" "0000565495" "0" "30" "19" "10247822" "10247822" "subst" "0.0024156" "02330" "DNMT1_000003" "g.10247822A>C" "" "" "" "DNMT1(NM_001130823.1):c.4428T>G (p.(His1476Gln), p.H1476Q), DNMT1(NM_001130823.3):c.4428T>G (p.H1476Q), DNMT1(NM_001379.3):c.4380T>G (p.H1460Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10137146A>C" "" "likely benign" "" "0000565496" "0" "30" "19" "10247822" "10247822" "subst" "0.0024156" "02326" "DNMT1_000003" "g.10247822A>C" "" "" "" "DNMT1(NM_001130823.1):c.4428T>G (p.(His1476Gln), p.H1476Q), DNMT1(NM_001130823.3):c.4428T>G (p.H1476Q), DNMT1(NM_001379.3):c.4380T>G (p.H1460Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10137146A>C" "" "likely benign" "" "0000565497" "0" "10" "19" "10247973" "10247973" "subst" "0.00869443" "02330" "DNMT1_000054" "g.10247973G>T" "" "" "" "DNMT1(NM_001130823.3):c.4294-17C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10137297G>T" "" "benign" "" "0000565498" "0" "10" "19" "10247975" "10247975" "subst" "0.00870337" "02330" "DNMT1_000055" "g.10247975C>G" "" "" "" "DNMT1(NM_001130823.3):c.4294-19G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10137299C>G" "" "benign" "" "0000565500" "0" "30" "19" "10250487" "10250487" "subst" "0" "02330" "DNMT1_000057" "g.10250487G>A" "" "" "" "DNMT1(NM_001130823.1):c.3813C>T (p.C1271=), DNMT1(NM_001130823.3):c.3813C>T (p.C1271=), DNMT1(NM_001379.3):c.3765C>T (p.C1255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10139811G>A" "" "likely benign" "" "0000565501" "0" "30" "19" "10250487" "10250487" "subst" "0" "01943" "DNMT1_000057" "g.10250487G>A" "" "" "" "DNMT1(NM_001130823.1):c.3813C>T (p.C1271=), DNMT1(NM_001130823.3):c.3813C>T (p.C1271=), DNMT1(NM_001379.3):c.3765C>T (p.C1255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10139811G>A" "" "likely benign" "" "0000565502" "0" "30" "19" "10250706" "10250706" "subst" "5.89926E-5" "02330" "DNMT1_000058" "g.10250706G>A" "" "" "" "DNMT1(NM_001130823.3):c.3806+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10140030G>A" "" "likely benign" "" "0000565505" "0" "30" "19" "10252789" "10252789" "subst" "1.21911E-5" "01943" "DNMT1_000060" "g.10252789C>T" "" "" "" "DNMT1(NM_001379.3):c.3176G>A (p.R1059H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10142113C>T" "" "likely benign" "" "0000565507" "0" "30" "19" "10259654" "10259654" "subst" "0.00047515" "02330" "DNMT1_000017" "g.10259654C>T" "" "" "" "DNMT1(NM_001130823.3):c.2626G>A (p.G876R), DNMT1(NM_001379.3):c.2578G>A (p.G860R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10148978C>T" "" "likely benign" "" "0000565508" "0" "30" "19" "10260252" "10260252" "subst" "0.00392747" "01943" "DNMT1_000062" "g.10260252G>A" "" "" "" "DNMT1(NM_001130823.1):c.2463C>T (p.L821=), DNMT1(NM_001130823.3):c.2463C>T (p.L821=), DNMT1(NM_001379.3):c.2415C>T (p.L805=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10149576G>A" "" "likely benign" "" "0000565509" "0" "30" "19" "10260252" "10260252" "subst" "0.00392747" "02326" "DNMT1_000062" "g.10260252G>A" "" "" "" "DNMT1(NM_001130823.1):c.2463C>T (p.L821=), DNMT1(NM_001130823.3):c.2463C>T (p.L821=), DNMT1(NM_001379.3):c.2415C>T (p.L805=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10149576G>A" "" "likely benign" "" "0000565510" "0" "50" "19" "10260328" "10260328" "subst" "4.07126E-5" "01943" "DNMT1_000063" "g.10260328G>A" "" "" "" "DNMT1(NM_001379.3):c.2339C>T (p.T780M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10149652G>A" "" "VUS" "" "0000565511" "0" "10" "19" "10260337" "10260337" "subst" "0.00891221" "02330" "DNMT1_000019" "g.10260337G>A" "" "" "" "DNMT1(NM_001130823.1):c.2382-4C>T (p.?), DNMT1(NM_001130823.3):c.2382-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10149661G>A" "" "benign" "" "0000565512" "0" "30" "19" "10260600" "10260600" "subst" "2.03059E-5" "01943" "DNMT1_000064" "g.10260600C>T" "" "" "" "DNMT1(NM_001379.3):c.2262G>A (p.A754=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10149924C>T" "" "likely benign" "" "0000565513" "0" "30" "19" "10262065" "10262066" "dup" "0" "02325" "DNMT1_000065" "g.10262065_10262066dup" "" "" "" "DNMT1(NM_001130823.3):c.2265+8_2265+9dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10151389_10151390dup" "" "likely benign" "" "0000565514" "0" "50" "19" "10264977" "10264977" "subst" "4.06273E-6" "01804" "DNMT1_000066" "g.10264977C>T" "" "" "" "DNMT1(NM_001130823.1):c.2011G>A (p.(Val671Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10154301C>T" "" "VUS" "" "0000565515" "0" "30" "19" "10265002" "10265002" "subst" "0.00013808" "02330" "DNMT1_000067" "g.10265002G>A" "" "" "" "DNMT1(NM_001130823.3):c.1986C>T (p.N662=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10154326G>A" "" "likely benign" "" "0000565516" "0" "10" "19" "10265044" "10265044" "subst" "0.00460083" "02330" "DNMT1_000023" "g.10265044G>A" "" "" "" "DNMT1(NM_001130823.1):c.1944C>T (p.F648=), DNMT1(NM_001130823.3):c.1944C>T (p.F648=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10154368G>A" "" "benign" "" "0000565517" "0" "30" "19" "10265372" "10265372" "subst" "0.00019092" "01943" "DNMT1_000068" "g.10265372C>T" "" "" "" "DNMT1(NM_001379.3):c.1674G>A (p.V558=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10154696C>T" "" "likely benign" "" "0000565518" "0" "90" "19" "10265693" "10265693" "subst" "0" "02327" "DNMT1_000001" "g.10265693T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10155017T>C" "" "pathogenic" "" "0000565519" "0" "10" "19" "10265725" "10265725" "subst" "0.00893996" "02330" "DNMT1_000027" "g.10265725G>A" "" "" "" "DNMT1(NM_001130823.1):c.1500C>T (p.A500=), DNMT1(NM_001130823.3):c.1500C>T (p.A500=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10155049G>A" "" "benign" "" "0000565520" "0" "30" "19" "10270390" "10270390" "subst" "0.00032891" "02330" "DNMT1_000069" "g.10270390G>A" "" "" "" "DNMT1(NM_001130823.1):c.1224C>T (p.N408=), DNMT1(NM_001130823.3):c.1224C>T (p.N408=), DNMT1(NM_001379.3):c.1176C>T (p.N392=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10159714G>A" "" "likely benign" "" "0000565521" "0" "30" "19" "10270390" "10270390" "subst" "0.00032891" "01943" "DNMT1_000069" "g.10270390G>A" "" "" "" "DNMT1(NM_001130823.1):c.1224C>T (p.N408=), DNMT1(NM_001130823.3):c.1224C>T (p.N408=), DNMT1(NM_001379.3):c.1176C>T (p.N392=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10159714G>A" "" "likely benign" "" "0000565522" "0" "30" "19" "10270408" "10270408" "subst" "0.000337031" "02330" "DNMT1_000070" "g.10270408C>G" "" "" "" "DNMT1(NM_001130823.3):c.1206G>C (p.L402=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10159732C>G" "" "likely benign" "" "0000565523" "0" "50" "19" "10270443" "10270443" "subst" "0" "01804" "DNMT1_000071" "g.10270443C>T" "" "" "" "DNMT1(NM_001130823.1):c.1171G>A (p.(Val391Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10159767C>T" "" "VUS" "" "0000565524" "0" "30" "19" "10270454" "10270454" "subst" "8.12123E-6" "02330" "DNMT1_000072" "g.10270454C>T" "" "" "" "DNMT1(NM_001130823.3):c.1171-11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10159778C>T" "" "likely benign" "" "0000565525" "0" "30" "19" "10270593" "10270593" "subst" "0.00156747" "01943" "DNMT1_000073" "g.10270593G>A" "" "" "" "DNMT1(NM_001379.3):c.1047C>T (p.H349=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10159917G>A" "" "likely benign" "" "0000565526" "0" "30" "19" "10270708" "10270708" "subst" "0" "01804" "DNMT1_000074" "g.10270708C>T" "" "" "" "DNMT1(NM_001130823.1):c.1075G>A (p.(Val359Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10160032C>T" "" "likely benign" "" "0000565527" "0" "30" "19" "10270757" "10270757" "dup" "0" "02330" "DNMT1_000075" "g.10270757dup" "" "" "" "DNMT1(NM_001130823.3):c.1044-8dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10160081dup" "" "likely benign" "" "0000565528" "0" "10" "19" "10273355" "10273355" "subst" "0.00611183" "02330" "DNMT1_000076" "g.10273355G>A" "" "" "" "DNMT1(NM_001130823.3):c.996C>T (p.D332=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10162679G>A" "" "benign" "" "0000565530" "0" "50" "19" "10274006" "10274006" "subst" "8.12757E-6" "01943" "DNMT1_000077" "g.10274006C>T" "" "" "" "DNMT1(NM_001379.3):c.874G>A (p.D292N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10163330C>T" "" "VUS" "" "0000565531" "0" "30" "19" "10274009" "10274009" "subst" "4.47016E-5" "01943" "DNMT1_000078" "g.10274009T>C" "" "" "" "DNMT1(NM_001130823.1):c.919A>G (p.K307E, p.(Lys307Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10163333T>C" "" "likely benign" "" "0000565532" "0" "30" "19" "10274009" "10274009" "subst" "4.47016E-5" "01804" "DNMT1_000078" "g.10274009T>C" "" "" "" "DNMT1(NM_001130823.1):c.919A>G (p.K307E, p.(Lys307Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10163333T>C" "" "likely benign" "" "0000565533" "0" "10" "19" "10277266" "10277266" "subst" "0.00484865" "02330" "DNMT1_000039" "g.10277266G>A" "" "" "" "DNMT1(NM_001130823.1):c.891+8C>T (p.(=)), DNMT1(NM_001130823.3):c.891+8C>T, DNMT1(NM_001379.3):c.843+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10166590G>A" "" "benign" "" "0000565534" "0" "50" "19" "10277266" "10277266" "subst" "0.00484865" "01943" "DNMT1_000039" "g.10277266G>A" "" "" "" "DNMT1(NM_001130823.1):c.891+8C>T (p.(=)), DNMT1(NM_001130823.3):c.891+8C>T, DNMT1(NM_001379.3):c.843+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10166590G>A" "" "VUS" "" "0000565535" "0" "30" "19" "10277266" "10277266" "subst" "0.00484865" "02326" "DNMT1_000039" "g.10277266G>A" "" "" "" "DNMT1(NM_001130823.1):c.891+8C>T (p.(=)), DNMT1(NM_001130823.3):c.891+8C>T, DNMT1(NM_001379.3):c.843+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10166590G>A" "" "likely benign" "" "0000565537" "0" "30" "19" "10279007" "10279007" "subst" "0" "01804" "DNMT1_000080" "g.10279007G>A" "" "" "" "DNMT1(NM_001130823.1):c.802C>T (p.(Pro268Ser)), DNMT1(NM_001130823.3):c.802C>T (p.P268S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10168331G>A" "" "likely benign" "" "0000565538" "0" "30" "19" "10283803" "10283803" "subst" "0.00111274" "01943" "DNMT1_000044" "g.10283803C>T" "" "" "" "DNMT1(NM_001130823.1):c.731G>A (p.(Gly244Glu)), DNMT1(NM_001130823.3):c.731G>A (p.G244E), DNMT1(NM_001379.3):c.683G>A (p.G228E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10173127C>T" "" "likely benign" "" "0000565539" "0" "30" "19" "10290855" "10290855" "subst" "0.00098285" "02330" "DNMT1_000045" "g.10290855G>A" "" "" "" "DNMT1(NM_001130823.1):c.493+8C>T (p.(=)), DNMT1(NM_001130823.3):c.493+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10180179G>A" "" "likely benign" "" "0000565540" "0" "30" "19" "10291089" "10291089" "subst" "0.000178702" "01804" "DNMT1_000081" "g.10291089G>T" "" "" "" "DNMT1(NM_001130823.1):c.382C>A (p.(Pro128Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10180413G>T" "" "likely benign" "" "0000565541" "0" "10" "19" "10291113" "10291113" "subst" "0.00613188" "02330" "DNMT1_000082" "g.10291113C>G" "" "" "" "DNMT1(NM_001130823.1):c.358G>C (p.(Val120Leu)), DNMT1(NM_001130823.3):c.358G>C (p.V120L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10180437C>G" "" "benign" "" "0000565542" "0" "30" "19" "10291113" "10291113" "subst" "0.00613188" "01804" "DNMT1_000082" "g.10291113C>G" "" "" "" "DNMT1(NM_001130823.1):c.358G>C (p.(Val120Leu)), DNMT1(NM_001130823.3):c.358G>C (p.V120L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10180437C>G" "" "likely benign" "" "0000565543" "0" "50" "19" "10291169" "10291169" "subst" "4.06065E-6" "02330" "DNMT1_000083" "g.10291169C>T" "" "" "" "DNMT1(NM_001130823.3):c.302G>A (p.R101Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10180493C>T" "" "VUS" "" "0000565544" "0" "10" "19" "10291181" "10291181" "subst" "0.0237347" "02330" "DNMT1_000084" "g.10291181T>C" "" "" "" "DNMT1(NM_001130823.1):c.290A>G (p.H97R, p.(His97Arg)), DNMT1(NM_001130823.3):c.290A>G (p.H97R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10180505T>C" "" "benign" "" "0000565545" "0" "30" "19" "10291181" "10291181" "subst" "0.0237347" "01943" "DNMT1_000084" "g.10291181T>C" "" "" "" "DNMT1(NM_001130823.1):c.290A>G (p.H97R, p.(His97Arg)), DNMT1(NM_001130823.3):c.290A>G (p.H97R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10180505T>C" "" "likely benign" "" "0000565546" "0" "50" "19" "10291471" "10291471" "subst" "0" "02330" "DNMT1_000085" "g.10291471T>C" "" "" "" "DNMT1(NM_001130823.3):c.208A>G (p.K70E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10180795T>C" "" "VUS" "" "0000565547" "0" "30" "19" "10291473" "10291473" "subst" "0.0102246" "01804" "DNMT1_000047" "g.10291473C>T" "" "" "" "DNMT1(NM_001130823.1):c.206G>A (p.R69H, p.(Arg69His)), DNMT1(NM_001130823.3):c.206G>A (p.R69H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10180797C>T" "" "likely benign" "" "0000565548" "0" "10" "19" "10292698" "10292698" "subst" "0.00893032" "02330" "DNMT1_000050" "g.10292698A>G" "" "" "" "DNMT1(NM_001130823.1):c.117+19T>C, DNMT1(NM_001130823.3):c.117+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10182022A>G" "" "benign" "" "0000565549" "0" "30" "19" "10292756" "10292756" "subst" "0.000345318" "01943" "DNMT1_000086" "g.10292756G>A" "" "" "" "DNMT1(NM_001130823.1):c.81-3C>T (p.?), DNMT1(NM_001379.3):c.81-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10182080G>A" "" "likely benign" "" "0000565550" "0" "30" "19" "10292756" "10292756" "subst" "0.000345318" "01804" "DNMT1_000086" "g.10292756G>A" "" "" "" "DNMT1(NM_001130823.1):c.81-3C>T (p.?), DNMT1(NM_001379.3):c.81-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10182080G>A" "" "likely benign" "" "0000565551" "0" "30" "19" "10305592" "10305592" "subst" "4.52567E-6" "02330" "DNMT1_000087" "g.10305592G>C" "" "" "" "DNMT1(NM_001130823.3):c.-17C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10194916G>C" "" "likely benign" "" "0000578032" "0" "50" "19" "10271072" "10271072" "dup" "0" "01474" "DNMT1_000052" "g.10271072dup" "" "{PMID:Lhota 2016:26822949}" "" "1035dupC" "" "Germline" "" "" "0" "" "" "g.10160396dup" "" "VUS" "" "0000617268" "0" "50" "19" "10249117" "10249117" "subst" "0" "01943" "DNMT1_000088" "g.10249117G>A" "" "" "" "DNMT1(NM_001379.3):c.4065C>T (p.T1355=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10138441G>A" "" "VUS" "" "0000617269" "0" "30" "19" "10249270" "10249270" "subst" "0.000105524" "02326" "DNMT1_000089" "g.10249270G>A" "" "" "" "DNMT1(NM_001130823.1):c.3960C>T (p.Y1320=), DNMT1(NM_001130823.3):c.3960C>T (p.Y1320=), DNMT1(NM_001379.3):c.3912C>T (p.Y1304=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10138594G>A" "" "likely benign" "" "0000617270" "0" "30" "19" "10249290" "10249290" "dup" "0" "01804" "DNMT1_000090" "g.10249290dup" "" "" "" "DNMT1(NM_001130823.1):c.3949-5dup (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10138614dup" "" "likely benign" "" "0000617271" "0" "50" "19" "10250852" "10250852" "subst" "0" "02326" "DNMT1_000091" "g.10250852G>A" "" "" "" "DNMT1(NM_001130823.1):c.3676C>T (p.R1226W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10140176G>A" "" "VUS" "" "0000617272" "0" "30" "19" "10252819" "10252819" "subst" "8.12334E-6" "01804" "DNMT1_000093" "g.10252819G>A" "" "" "" "DNMT1(NM_001130823.1):c.3194C>T (p.(Ala1065Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10142143G>A" "" "likely benign" "" "0000617273" "0" "30" "19" "10254439" "10254439" "subst" "0" "01804" "DNMT1_000095" "g.10254439G>C" "" "" "" "DNMT1(NM_001130823.1):c.3116+3C>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10143763G>C" "" "likely benign" "" "0000617274" "0" "10" "19" "10260252" "10260252" "subst" "0.00392747" "02330" "DNMT1_000062" "g.10260252G>A" "" "" "" "DNMT1(NM_001130823.1):c.2463C>T (p.L821=), DNMT1(NM_001130823.3):c.2463C>T (p.L821=), DNMT1(NM_001379.3):c.2415C>T (p.L805=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10149576G>A" "" "benign" "" "0000617275" "0" "30" "19" "10262413" "10262413" "subst" "0.0015924" "02326" "DNMT1_000022" "g.10262413C>T" "" "" "" "DNMT1(NM_001130823.1):c.2117+13G>A, DNMT1(NM_001130823.3):c.2117+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10151737C>T" "" "likely benign" "" "0000617276" "0" "30" "19" "10262533" "10262533" "subst" "0.000147044" "02330" "DNMT1_000098" "g.10262533G>A" "" "" "" "DNMT1(NM_001130823.3):c.2020-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10151857G>A" "" "likely benign" "" "0000617277" "0" "30" "19" "10266596" "10266596" "subst" "0" "01943" "DNMT1_000099" "g.10266596G>A" "" "" "" "DNMT1(NM_001379.3):c.1377C>T (p.G459=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10155920G>A" "" "likely benign" "" "0000617278" "0" "30" "19" "10274003" "10274003" "subst" "0.000715249" "01804" "DNMT1_000101" "g.10274003G>C" "" "" "" "DNMT1(NM_001130823.1):c.925C>G (p.(Leu309Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10163327G>C" "" "likely benign" "" "0000617279" "0" "30" "19" "10283847" "10283847" "subst" "5.27949E-5" "02330" "DNMT1_000102" "g.10283847A>C" "" "" "" "DNMT1(NM_001130823.3):c.687T>G (p.V229=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10173171A>C" "" "likely benign" "" "0000617280" "0" "30" "19" "10291181" "10291181" "subst" "0.0237347" "01804" "DNMT1_000084" "g.10291181T>C" "" "" "" "DNMT1(NM_001130823.1):c.290A>G (p.H97R, p.(His97Arg)), DNMT1(NM_001130823.3):c.290A>G (p.H97R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10180505T>C" "" "likely benign" "" "0000623906" "0" "30" "19" "10250889" "10250889" "subst" "0" "01943" "DNMT1_000092" "g.10250889C>T" "" "" "" "DNMT1(NM_001379.3):c.3591G>A (p.L1197=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10140213C>T" "" "likely benign" "" "0000623907" "0" "50" "19" "10252867" "10252867" "subst" "4.06177E-6" "02325" "DNMT1_000094" "g.10252867G>A" "" "" "" "DNMT1(NM_001379.4):c.3098C>T (p.A1033V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10142191G>A" "" "VUS" "" "0000623908" "0" "50" "19" "10254638" "10254638" "subst" "0" "01943" "DNMT1_000096" "g.10254638G>A" "" "" "" "DNMT1(NM_001379.3):c.2872C>T (p.R958C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10143962G>A" "" "VUS" "" "0000623909" "0" "30" "19" "10259613" "10259613" "subst" "0.000113698" "02330" "DNMT1_000097" "g.10259613G>A" "" "" "" "DNMT1(NM_001130823.3):c.2667C>T (p.Y889=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10148937G>A" "" "likely benign" "" "0000623910" "0" "30" "19" "10267095" "10267095" "subst" "0" "01943" "DNMT1_000100" "g.10267095T>C" "" "" "" "DNMT1(NM_001379.3):c.1323A>G (p.P441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10156419T>C" "" "likely benign" "" "0000623912" "0" "30" "19" "10291065" "10291065" "subst" "0.000247917" "01943" "DNMT1_000104" "g.10291065G>A" "" "" "" "DNMT1(NM_001130823.3):c.406C>T (p.R136C), DNMT1(NM_001379.3):c.406C>T (p.R136C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10180389G>A" "" "likely benign" "" "0000623913" "0" "30" "19" "10291078" "10291078" "subst" "0.00023966" "01943" "DNMT1_000105" "g.10291078G>A" "" "" "" "DNMT1(NM_001130823.3):c.393C>T (p.P131=), DNMT1(NM_001379.3):c.393C>T (p.P131=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10180402G>A" "" "likely benign" "" "0000649869" "1" "30" "19" "10291473" "10291473" "subst" "0.0102246" "03575" "DNMT1_000047" "g.10291473C>T" "7/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 heterozygous, no homozygous; {DB:CLININrs61750053}" "Germline" "" "rs61750053" "0" "" "" "g.10180797C>T" "" "likely benign" "" "0000658440" "0" "50" "19" "10247809" "10247809" "subst" "0" "01804" "DNMT1_000106" "g.10247809C>T" "" "" "" "DNMT1(NM_001130823.1):c.4441G>A (p.(Gly1481Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10137133C>T" "" "VUS" "" "0000658441" "0" "30" "19" "10251020" "10251020" "subst" "0.000232965" "02330" "DNMT1_000107" "g.10251020C>T" "" "" "" "DNMT1(NM_001130823.3):c.3524-16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10140344C>T" "" "likely benign" "" "0000658443" "0" "30" "19" "10265575" "10265575" "subst" "0" "01804" "DNMT1_000109" "g.10265575T>C" "" "" "" "DNMT1(NM_001130823.1):c.1644+6A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10154899T>C" "" "likely benign" "" "0000658444" "0" "30" "19" "10291529" "10291529" "subst" "0.00140225" "02326" "DNMT1_000049" "g.10291529G>A" "" "" "" "DNMT1(NM_001130823.1):c.150C>T (p.H50=), DNMT1(NM_001130823.3):c.150C>T (p.H50=), DNMT1(NM_001379.3):c.150C>T (p.H50=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10180853G>A" "" "likely benign" "" "0000658445" "0" "30" "19" "10291529" "10291529" "subst" "0.00140225" "01943" "DNMT1_000049" "g.10291529G>A" "" "" "" "DNMT1(NM_001130823.1):c.150C>T (p.H50=), DNMT1(NM_001130823.3):c.150C>T (p.H50=), DNMT1(NM_001379.3):c.150C>T (p.H50=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10180853G>A" "" "likely benign" "" "0000681215" "0" "30" "19" "10244364" "10244364" "subst" "9.86008E-5" "01943" "DNMT1_000110" "g.10244364C>T" "" "" "" "DNMT1(NM_001379.3):c.4830G>A (p.E1610=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681216" "0" "50" "19" "10252829" "10252829" "subst" "2.84317E-5" "01943" "DNMT1_000013" "g.10252829C>T" "" "" "" "DNMT1(NM_001130823.1):c.3184G>A (p.(Asp1062Asn)), DNMT1(NM_001130823.3):c.3184G>A (p.D1062N), DNMT1(NM_001379.3):c.3136G>A (p.D1046N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681217" "0" "30" "19" "10257193" "10257193" "subst" "6.0929E-5" "02326" "DNMT1_000111" "g.10257193C>A" "" "" "" "DNMT1(NM_001130823.1):c.2728G>T (p.V910L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681218" "0" "30" "19" "10265116" "10265116" "subst" "0" "02330" "DNMT1_000112" "g.10265116G>T" "" "" "" "DNMT1(NM_001130823.3):c.1872C>A (p.T624=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681219" "0" "50" "19" "10279007" "10279007" "subst" "0" "02330" "DNMT1_000080" "g.10279007G>A" "" "" "" "DNMT1(NM_001130823.1):c.802C>T (p.(Pro268Ser)), DNMT1(NM_001130823.3):c.802C>T (p.P268S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681220" "0" "30" "19" "10284554" "10284554" "subst" "0" "01943" "DNMT1_000113" "g.10284554T>C" "" "" "" "DNMT1(NM_001379.3):c.628A>G (p.R210G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681221" "0" "30" "19" "10290855" "10290855" "subst" "0.00098285" "02326" "DNMT1_000045" "g.10290855G>A" "" "" "" "DNMT1(NM_001130823.1):c.493+8C>T (p.(=)), DNMT1(NM_001130823.3):c.493+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681222" "0" "50" "19" "10291065" "10291065" "subst" "0.000247917" "02330" "DNMT1_000104" "g.10291065G>A" "" "" "" "DNMT1(NM_001130823.3):c.406C>T (p.R136C), DNMT1(NM_001379.3):c.406C>T (p.R136C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681223" "0" "30" "19" "10291078" "10291078" "subst" "0.00023966" "02330" "DNMT1_000105" "g.10291078G>A" "" "" "" "DNMT1(NM_001130823.3):c.393C>T (p.P131=), DNMT1(NM_001379.3):c.393C>T (p.P131=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692635" "0" "30" "19" "10249270" "10249270" "subst" "0.000105524" "01943" "DNMT1_000089" "g.10249270G>A" "" "" "" "DNMT1(NM_001130823.1):c.3960C>T (p.Y1320=), DNMT1(NM_001130823.3):c.3960C>T (p.Y1320=), DNMT1(NM_001379.3):c.3912C>T (p.Y1304=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692636" "0" "50" "19" "10252856" "10252856" "subst" "8.12348E-6" "02330" "DNMT1_000114" "g.10252856C>T" "" "" "" "DNMT1(NM_001130823.3):c.3157G>A (p.A1053T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692637" "0" "30" "19" "10277332" "10277332" "subst" "1.62433E-5" "01943" "DNMT1_000115" "g.10277332G>A" "" "" "" "DNMT1(NM_001379.3):c.785C>T (p.P262L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692638" "0" "10" "19" "10283803" "10283803" "subst" "0.00111274" "02330" "DNMT1_000044" "g.10283803C>T" "" "" "" "DNMT1(NM_001130823.1):c.731G>A (p.(Gly244Glu)), DNMT1(NM_001130823.3):c.731G>A (p.G244E), DNMT1(NM_001379.3):c.683G>A (p.G228E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000692639" "0" "30" "19" "10291084" "10291084" "subst" "0.000130059" "02326" "DNMT1_000116" "g.10291084G>A" "" "" "" "DNMT1(NM_001130823.3):c.387C>T (p.P129=), DNMT1(NM_001379.4):c.387C>T (p.P129=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727030" "0" "50" "19" "10249118" "10249118" "subst" "0" "02329" "DNMT1_000056" "g.10249118G>A" "" "" "" "DNMT1(NM_001130823.1):c.4112C>T (p.T1371I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727031" "0" "30" "19" "10249270" "10249270" "subst" "0.000105524" "02330" "DNMT1_000089" "g.10249270G>A" "" "" "" "DNMT1(NM_001130823.1):c.3960C>T (p.Y1320=), DNMT1(NM_001130823.3):c.3960C>T (p.Y1320=), DNMT1(NM_001379.3):c.3912C>T (p.Y1304=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727032" "0" "50" "19" "10252829" "10252829" "subst" "2.84317E-5" "02330" "DNMT1_000013" "g.10252829C>T" "" "" "" "DNMT1(NM_001130823.1):c.3184G>A (p.(Asp1062Asn)), DNMT1(NM_001130823.3):c.3184G>A (p.D1062N), DNMT1(NM_001379.3):c.3136G>A (p.D1046N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727033" "0" "50" "19" "10291170" "10291170" "subst" "6.09117E-5" "01943" "DNMT1_000117" "g.10291170G>A" "" "" "" "DNMT1(NM_001379.3):c.301C>T (p.R101W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727034" "0" "50" "19" "10305565" "10305565" "subst" "0" "01943" "DNMT1_000118" "g.10305565C>T" "" "" "" "DNMT1(NM_001379.3):c.11G>A (p.R4H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000763807" "1" "70" "19" "10265606" "10265606" "subst" "0" "00006" "DNMT1_000119" "g.10265606T>C" "" "{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}" "" "1619A>G (Tyr540Cys)" "ACMG PM1, PM2, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000808597" "0" "50" "19" "10254491" "10254491" "subst" "4.06075E-6" "02330" "DNMT1_000120" "g.10254491C>T" "" "" "" "DNMT1(NM_001130823.3):c.3067G>A (p.G1023S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808598" "0" "30" "19" "10260150" "10260150" "subst" "1.21846E-5" "01943" "DNMT1_000121" "g.10260150G>A" "" "" "" "DNMT1(NM_001130823.3):c.2565C>T (p.P855=), DNMT1(NM_001379.3):c.2517C>T (p.P839=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808599" "0" "30" "19" "10291061" "10291061" "subst" "5.28438E-5" "01943" "DNMT1_000122" "g.10291061G>A" "" "" "" "DNMT1(NM_001379.3):c.410C>T (p.T137M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808600" "0" "30" "19" "10305549" "10305549" "subst" "0" "01943" "DNMT1_000123" "g.10305549C>T" "" "" "" "DNMT1(NM_001379.3):c.27G>A (p.R9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000847473" "0" "50" "19" "10270364" "10270364" "subst" "0" "00000" "DNMT1_000124" "g.10270364G>A" "" "" "" "c.1250C>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000855385" "0" "50" "19" "10252846" "10252846" "subst" "3.24926E-5" "02325" "DNMT1_000125" "g.10252846T>C" "" "" "" "DNMT1(NM_001130823.3):c.3167A>G (p.N1056S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855386" "0" "30" "19" "10262134" "10262134" "subst" "3.65503E-5" "01943" "DNMT1_000126" "g.10262134G>A" "" "" "" "DNMT1(NM_001379.3):c.2157C>T (p.H719=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855387" "0" "10" "19" "10265044" "10265044" "subst" "0.00460083" "02326" "DNMT1_000023" "g.10265044G>A" "" "" "" "DNMT1(NM_001130823.1):c.1944C>T (p.F648=), DNMT1(NM_001130823.3):c.1944C>T (p.F648=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000881147" "0" "90" "19" "10265693" "10265693" "subst" "0" "02300" "DNMT1_000001" "g.10265693T>C" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM2, PM5, PP3, PP5" "Germline/De novo (untested)" "" "rs199473690" "0" "" "" "g.10155017T>C" "" "pathogenic (dominant)" "ACMG" "0000894659" "0" "30" "19" "10251824" "10251824" "subst" "0.000231626" "02326" "DNMT1_000127" "g.10251824G>A" "" "" "" "DNMT1(NM_001130823.1):c.3351C>T (p.N1117=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894660" "0" "50" "19" "10252817" "10252817" "subst" "0.000125916" "02325" "DNMT1_000128" "g.10252817C>T" "" "" "" "DNMT1(NM_001130823.3):c.3196G>A (p.V1066M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894661" "0" "30" "19" "10270390" "10270390" "subst" "0.00032891" "02326" "DNMT1_000069" "g.10270390G>A" "" "" "" "DNMT1(NM_001130823.1):c.1224C>T (p.N408=), DNMT1(NM_001130823.3):c.1224C>T (p.N408=), DNMT1(NM_001379.3):c.1176C>T (p.N392=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894662" "0" "30" "19" "10270539" "10270539" "subst" "2.03029E-5" "02330" "DNMT1_000129" "g.10270539A>G" "" "" "" "DNMT1(NM_001130823.3):c.1149T>C (p.Y383=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894663" "0" "30" "19" "10270748" "10270748" "subst" "0" "02326" "DNMT1_000130" "g.10270748A>G" "" "" "" "DNMT1(NM_001130823.1):c.1044-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894664" "0" "30" "19" "10283748" "10283748" "subst" "0.00102357" "02326" "DNMT1_000042" "g.10283748G>T" "" "" "" "DNMT1(NM_001130823.1):c.768+18C>A, DNMT1(NM_001130823.3):c.768+18C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894665" "0" "30" "19" "10283754" "10283754" "subst" "0.00102363" "02326" "DNMT1_000043" "g.10283754A>T" "" "" "" "DNMT1(NM_001130823.1):c.768+12T>A, DNMT1(NM_001130823.3):c.768+12T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894666" "0" "50" "19" "10283775" "10283775" "subst" "0" "02330" "DNMT1_000131" "g.10283775T>G" "" "" "" "DNMT1(NM_001130823.3):c.759A>C (p.R253S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894667" "0" "30" "19" "10291084" "10291084" "subst" "0.000130059" "02330" "DNMT1_000116" "g.10291084G>A" "" "" "" "DNMT1(NM_001130823.3):c.387C>T (p.P129=), DNMT1(NM_001379.4):c.387C>T (p.P129=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915089" "0" "50" "19" "10250470" "10250470" "subst" "3.94019E-5" "02330" "DNMT1_000132" "g.10250470C>T" "" "" "" "DNMT1(NM_001130823.3):c.3830G>A (p.R1277Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915090" "0" "30" "19" "10251883" "10251883" "subst" "0.000268636" "02330" "DNMT1_000133" "g.10251883G>A" "" "" "" "DNMT1(NM_001130823.1):c.3310-18C>T, DNMT1(NM_001130823.3):c.3310-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915091" "0" "30" "19" "10291576" "10291576" "subst" "2.0391E-5" "02330" "DNMT1_000134" "g.10291576T>C" "" "" "" "DNMT1(NM_001130823.3):c.118-15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926778" "0" "30" "19" "10251883" "10251883" "subst" "0.000268636" "02326" "DNMT1_000133" "g.10251883G>A" "" "" "" "DNMT1(NM_001130823.1):c.3310-18C>T, DNMT1(NM_001130823.3):c.3310-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926779" "0" "30" "19" "10283797" "10283797" "subst" "7.71611E-5" "02326" "DNMT1_000135" "g.10283797C>T" "" "" "" "DNMT1(NM_001130823.1):c.737G>A (p.R246H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930979" "0" "30" "19" "10260243" "10260243" "subst" "0.000406501" "02326" "DNMT1_000018" "g.10260243C>T" "" "" "" "DNMT1(NM_001130823.1):c.2472G>A (p.T824=), DNMT1(NM_001130823.3):c.2472G>A (p.T824=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951174" "0" "30" "19" "10250952" "10250952" "subst" "6.50074E-5" "02330" "DNMT1_000136" "g.10250952C>T" "" "" "" "DNMT1(NM_001130823.3):c.3576G>A (p.A1192=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951175" "0" "50" "19" "10260325" "10260325" "subst" "1.22137E-5" "02330" "DNMT1_000137" "g.10260325G>C" "" "" "" "DNMT1(NM_001130823.3):c.2390C>G (p.A797G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000969494" "0" "50" "19" "10250387" "10250387" "subst" "2.46152E-5" "02325" "DNMT1_000138" "g.10250387G>A" "" "" "" "DNMT1(NM_001130823.3):c.3913C>T (p.R1305C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000969496" "0" "30" "19" "10273374" "10273374" "subst" "8.93423E-5" "02326" "DNMT1_000037" "g.10273374T>G" "" "" "" "DNMT1(NM_001130823.1):c.977A>C (p.Q326P), DNMT1(NM_001130823.3):c.977A>C (p.Q326P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983131" "0" "50" "19" "10244351" "10244351" "subst" "0" "01804" "DNMT1_000139" "g.10244351T>C" "" "" "" "DNMT1(NM_001130823.3):c.4891A>G (p.(Lys1631Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004274" "0" "50" "19" "10247814" "10247814" "subst" "0" "01804" "DNMT1_000140" "g.10247814T>C" "" "" "" "DNMT1(NM_001130823.1):c.4436A>G (p.(Lys1479Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004275" "0" "50" "19" "10251459" "10251459" "subst" "0" "01804" "DNMT1_000141" "g.10251459G>A" "" "" "" "DNMT1(NM_001130823.1):c.3521C>T (p.(Ala1174Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004276" "0" "50" "19" "10252778" "10252778" "subst" "0" "01804" "DNMT1_000142" "g.10252778C>T" "" "" "" "DNMT1(NM_001130823.1):c.3235G>A (p.(Glu1079Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004277" "0" "30" "19" "10260150" "10260150" "subst" "1.21846E-5" "02330" "DNMT1_000121" "g.10260150G>A" "" "" "" "DNMT1(NM_001130823.3):c.2565C>T (p.P855=), DNMT1(NM_001379.3):c.2517C>T (p.P839=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004278" "0" "10" "19" "10260243" "10260243" "subst" "0.000406501" "02330" "DNMT1_000018" "g.10260243C>T" "" "" "" "DNMT1(NM_001130823.1):c.2472G>A (p.T824=), DNMT1(NM_001130823.3):c.2472G>A (p.T824=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001004279" "0" "30" "19" "10273422" "10273422" "subst" "1.21824E-5" "01804" "DNMT1_000143" "g.10273422G>A" "" "" "" "DNMT1(NM_001130823.1):c.929C>T (p.(Ala310Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004280" "0" "50" "19" "10286277" "10286277" "subst" "0" "01804" "DNMT1_000144" "g.10286277G>C" "" "" "" "DNMT1(NM_001130823.1):c.587C>G (p.(Pro196Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004281" "0" "30" "19" "10291026" "10291026" "subst" "4.0871E-5" "01804" "DNMT1_000145" "g.10291026G>A" "" "" "" "DNMT1(NM_001130823.1):c.445C>T (p.(Arg149Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004282" "0" "30" "19" "10291064" "10291064" "subst" "2.84504E-5" "01804" "DNMT1_000146" "g.10291064C>T" "" "" "" "DNMT1(NM_001130823.1):c.407G>A (p.(Arg136His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001022180" "0" "50" "19" "10305495" "10305495" "subst" "0" "04796" "DNMT1_000147" "g.10305495C>T" "" "" "" "" "effect on RNA inclusion of intron sequences" "Germline/De novo (untested)" "" "" "0" "" "" "g.10194819C>T" "" "VUS" "" "0001042532" "0" "30" "19" "10250487" "10250487" "subst" "0" "02326" "DNMT1_000057" "g.10250487G>A" "" "" "" "DNMT1(NM_001130823.1):c.3813C>T (p.C1271=), DNMT1(NM_001130823.3):c.3813C>T (p.C1271=), DNMT1(NM_001379.3):c.3765C>T (p.C1255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042533" "0" "50" "19" "10257033" "10257033" "subst" "1.21924E-5" "01804" "DNMT1_000148" "g.10257033G>A" "" "" "" "DNMT1(NM_001130823.3):c.2888C>T (p.(Thr963Met))" "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 DNMT1 ## Count = 207 "{{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}}" "0000194450" "00006604" "97" "1470" "0" "1472" "0" "c.1470_1472delinsATA" "r.(?)" "p.(Asp490_Pro491delinsGluTyr)" "19" "0000194451" "00006604" "97" "1484" "0" "1484" "0" "c.1484A>G" "r.(?)" "p.(Tyr495Cys)" "19" "0000194452" "00006604" "97" "1484" "0" "1484" "0" "c.1484A>G" "r.(?)" "p.(Tyr495Cys)" "19" "0000194453" "00006604" "97" "1484" "0" "1484" "0" "c.1484A>G" "r.(?)" "p.(Tyr495Cys)" "19" "0000247550" "00006604" "10" "996" "-8" "996" "-8" "c.996-8del" "r.(=)" "p.(=)" "" "0000247619" "00006604" "30" "720" "12" "720" "12" "c.720+12T>A" "r.(=)" "p.(=)" "" "0000249241" "00006604" "10" "996" "-8" "996" "-8" "c.996-8del" "r.(=)" "p.(=)" "" "0000250684" "00006604" "30" "996" "-8" "996" "-8" "c.996-8del" "r.(=)" "p.(=)" "" "0000253036" "00006604" "10" "996" "-8" "996" "-8" "c.996-8del" "r.(=)" "p.(=)" "" "0000254452" "00006604" "30" "4380" "0" "4380" "0" "c.4380T>G" "r.(?)" "p.(His1460Gln)" "" "0000255323" "00006604" "30" "117" "19" "117" "19" "c.117+19T>C" "r.(=)" "p.(=)" "" "0000265396" "00006604" "10" "996" "-9" "996" "-8" "c.996-9_996-8del" "r.(=)" "p.(=)" "" "0000265398" "00006604" "10" "1341" "0" "1341" "0" "c.1341A>G" "r.(?)" "p.(Pro447=)" "" "0000265399" "00006604" "30" "150" "0" "150" "0" "c.150C>T" "r.(?)" "p.(His50=)" "" "0000265400" "00006604" "10" "1584" "0" "1584" "0" "c.1584C>A" "r.(?)" "p.(Ile528=)" "" "0000265401" "00006604" "10" "1734" "0" "1734" "0" "c.1734A>G" "r.(?)" "p.(Thr578=)" "" "0000265402" "00006604" "10" "1784" "14" "1784" "14" "c.1784+14A>G" "r.(=)" "p.(=)" "" "0000265403" "00006604" "10" "206" "0" "206" "0" "c.206G>A" "r.(?)" "p.(Arg69His)" "" "0000265404" "00006604" "30" "2069" "13" "2069" "13" "c.2069+13G>A" "r.(=)" "p.(=)" "" "0000265405" "00006604" "10" "3261" "12" "3261" "12" "c.3261+12G>A" "r.(=)" "p.(=)" "" "0000265406" "00006604" "10" "3891" "0" "3891" "0" "c.3891C>T" "r.(?)" "p.(Gly1297=)" "" "0000265407" "00006604" "30" "720" "18" "720" "18" "c.720+18C>A" "r.(=)" "p.(=)" "" "0000265408" "00006604" "50" "929" "0" "929" "0" "c.929A>C" "r.(?)" "p.(Gln310Pro)" "" "0000265409" "00006604" "10" "931" "0" "931" "0" "c.931A>G" "r.(?)" "p.(Ile311Val)" "" "0000267476" "00006604" "10" "1734" "0" "1734" "0" "c.1734A>G" "r.(?)" "p.(Thr578=)" "" "0000267477" "00006604" "10" "1896" "0" "1896" "0" "c.1896C>T" "r.(?)" "p.(Phe632=)" "" "0000267478" "00006604" "30" "204" "0" "204" "0" "c.204A>G" "r.(?)" "p.(Leu68=)" "" "0000270833" "00006604" "10" "996" "-9" "996" "-8" "c.996-9_996-8del" "r.(=)" "p.(=)" "" "0000270834" "00006604" "30" "206" "0" "206" "0" "c.206G>A" "r.(?)" "p.(Arg69His)" "" "0000275422" "00006604" "30" "996" "-9" "996" "-8" "c.996-9_996-8del" "r.(=)" "p.(=)" "" "0000275423" "00006604" "10" "1341" "0" "1341" "0" "c.1341A>G" "r.(?)" "p.(Pro447=)" "" "0000275424" "00006604" "30" "1452" "0" "1452" "0" "c.1452C>T" "r.(?)" "p.(Ala484=)" "" "0000275425" "00006604" "10" "1584" "0" "1584" "0" "c.1584C>A" "r.(?)" "p.(Ile528=)" "" "0000275426" "00006604" "10" "1734" "0" "1734" "0" "c.1734A>G" "r.(?)" "p.(Thr578=)" "" "0000275427" "00006604" "10" "1784" "14" "1784" "14" "c.1784+14A>G" "r.(=)" "p.(=)" "" "0000275428" "00006604" "10" "206" "0" "206" "0" "c.206G>A" "r.(?)" "p.(Arg69His)" "" "0000275429" "00006604" "30" "2069" "13" "2069" "13" "c.2069+13G>A" "r.(=)" "p.(=)" "" "0000275430" "00006604" "30" "2238" "0" "2238" "0" "c.2238C>T" "r.(?)" "p.(Tyr746=)" "" "0000275431" "00006604" "30" "2334" "-4" "2334" "-4" "c.2334-4C>T" "r.spl?" "p.?" "" "0000275432" "00006604" "30" "2424" "0" "2424" "0" "c.2424G>A" "r.(?)" "p.(Thr808=)" "" "0000275433" "00006604" "50" "2578" "0" "2578" "0" "c.2578G>A" "r.(?)" "p.(Gly860Arg)" "" "0000275434" "00006604" "30" "2628" "0" "2628" "0" "c.2628C>T" "r.(?)" "p.(Phe876=)" "" "0000275435" "00006604" "30" "3346" "4" "3346" "4" "c.3346+4C>T" "r.spl?" "p.?" "" "0000275436" "00006604" "30" "3475" "6" "3475" "6" "c.3475+6C>T" "r.(=)" "p.(=)" "" "0000275437" "00006604" "10" "3891" "0" "3891" "0" "c.3891C>T" "r.(?)" "p.(Gly1297=)" "" "0000275438" "00006604" "30" "4246" "-19" "4246" "-17" "c.4246-19_4246-17delinsCCA" "r.(=)" "p.(=)" "" "0000275439" "00006604" "30" "4320" "0" "4320" "0" "c.4320C>T" "r.(?)" "p.(Pro1440=)" "" "0000275440" "00006604" "30" "445" "171" "445" "171" "c.445+171C>T" "r.(=)" "p.(=)" "" "0000275441" "00006604" "50" "890" "0" "890" "0" "c.890G>A" "r.(?)" "p.(Arg297Gln)" "" "0000275442" "00006604" "10" "931" "0" "931" "0" "c.931A>G" "r.(?)" "p.(Ile311Val)" "" "0000326146" "00006604" "30" "4380" "0" "4380" "0" "c.4380T>G" "r.(?)" "p.(His1460Gln)" "" "0000326149" "00006604" "30" "3214" "0" "3214" "0" "c.3214G>A" "r.(?)" "p.(Val1072Ile)" "" "0000326150" "00006604" "50" "3136" "0" "3136" "0" "c.3136G>A" "r.(?)" "p.(Asp1046Asn)" "" "0000326151" "00006604" "50" "3091" "0" "3091" "0" "c.3091A>G" "r.(?)" "p.(Thr1031Ala)" "" "0000326153" "00006604" "30" "2334" "-4" "2334" "-4" "c.2334-4C>T" "r.spl?" "p.?" "" "0000326155" "00006604" "30" "996" "-8" "996" "-8" "c.996-8del" "r.(=)" "p.(=)" "" "0000326156" "00006604" "30" "996" "-9" "996" "-8" "c.996-9_996-8del" "r.(=)" "p.(=)" "" "0000326158" "00006604" "30" "843" "8" "843" "8" "c.843+8C>T" "r.(=)" "p.(=)" "" "0000326159" "00006604" "50" "753" "0" "753" "0" "c.753A>G" "r.(?)" "p.(Glu251=)" "" "0000326160" "00006604" "50" "737" "0" "737" "0" "c.737G>A" "r.(?)" "p.(Arg246Gln)" "" "0000326161" "00006604" "50" "683" "0" "683" "0" "c.683G>A" "r.(?)" "p.(Gly228Glu)" "" "0000326162" "00006604" "30" "445" "171" "445" "171" "c.445+171C>T" "r.(=)" "p.(=)" "" "0000336898" "00006604" "10" "1784" "14" "1784" "14" "c.1784+14A>G" "r.(=)" "p.(=)" "" "0000340827" "00006604" "10" "1584" "0" "1584" "0" "c.1584C>A" "r.(?)" "p.(Ile528=)" "" "0000340918" "00006604" "10" "1341" "0" "1341" "0" "c.1341A>G" "r.(?)" "p.(Pro447=)" "" "0000341017" "00006604" "10" "1734" "0" "1734" "0" "c.1734A>G" "r.(?)" "p.(Thr578=)" "" "0000346688" "00006604" "10" "931" "0" "931" "0" "c.931A>G" "r.(?)" "p.(Ile311Val)" "" "0000565494" "00006604" "30" "4608" "9" "4608" "9" "c.4608+9G>A" "r.(=)" "p.(=)" "" "0000565495" "00006604" "30" "4380" "0" "4380" "0" "c.4380T>G" "r.(?)" "p.(His1460Gln)" "" "0000565496" "00006604" "30" "4380" "0" "4380" "0" "c.4380T>G" "r.(?)" "p.(His1460Gln)" "" "0000565497" "00006604" "10" "4246" "-17" "4246" "-17" "c.4246-17C>A" "r.(=)" "p.(=)" "" "0000565498" "00006604" "10" "4246" "-19" "4246" "-19" "c.4246-19G>C" "r.(=)" "p.(=)" "" "0000565500" "00006604" "30" "3765" "0" "3765" "0" "c.3765C>T" "r.(?)" "p.(Cys1255=)" "" "0000565501" "00006604" "30" "3765" "0" "3765" "0" "c.3765C>T" "r.(?)" "p.(Cys1255=)" "" "0000565502" "00006604" "30" "3758" "16" "3758" "16" "c.3758+16C>T" "r.(=)" "p.(=)" "" "0000565505" "00006604" "30" "3176" "0" "3176" "0" "c.3176G>A" "r.(?)" "p.(Arg1059His)" "" "0000565507" "00006604" "30" "2578" "0" "2578" "0" "c.2578G>A" "r.(?)" "p.(Gly860Arg)" "" "0000565508" "00006604" "30" "2415" "0" "2415" "0" "c.2415C>T" "r.(?)" "p.(Leu805=)" "" "0000565509" "00006604" "30" "2415" "0" "2415" "0" "c.2415C>T" "r.(?)" "p.(Leu805=)" "" "0000565510" "00006604" "50" "2339" "0" "2339" "0" "c.2339C>T" "r.(?)" "p.(Thr780Met)" "" "0000565511" "00006604" "10" "2334" "-4" "2334" "-4" "c.2334-4C>T" "r.spl?" "p.?" "" "0000565512" "00006604" "30" "2262" "0" "2262" "0" "c.2262G>A" "r.(?)" "p.(Ala754=)" "" "0000565513" "00006604" "30" "2217" "8" "2217" "9" "c.2217+8_2217+9dup" "r.(=)" "p.(=)" "" "0000565514" "00006604" "50" "1963" "0" "1963" "0" "c.1963G>A" "r.(?)" "p.(Val655Ile)" "" "0000565515" "00006604" "30" "1938" "0" "1938" "0" "c.1938C>T" "r.(?)" "p.(Asn646=)" "" "0000565516" "00006604" "10" "1896" "0" "1896" "0" "c.1896C>T" "r.(?)" "p.(Phe632=)" "" "0000565517" "00006604" "30" "1674" "0" "1674" "0" "c.1674G>A" "r.(?)" "p.(Val558=)" "" "0000565518" "00006604" "90" "1484" "0" "1484" "0" "c.1484A>G" "r.(?)" "p.(Tyr495Cys)" "" "0000565519" "00006604" "10" "1452" "0" "1452" "0" "c.1452C>T" "r.(?)" "p.(Ala484=)" "" "0000565520" "00006604" "30" "1176" "0" "1176" "0" "c.1176C>T" "r.(?)" "p.(Asn392=)" "" "0000565521" "00006604" "30" "1176" "0" "1176" "0" "c.1176C>T" "r.(?)" "p.(Asn392=)" "" "0000565522" "00006604" "30" "1158" "0" "1158" "0" "c.1158G>C" "r.(?)" "p.(Leu386=)" "" "0000565523" "00006604" "50" "1123" "0" "1123" "0" "c.1123G>A" "r.(?)" "p.(Val375Met)" "" "0000565524" "00006604" "30" "1123" "-11" "1123" "-11" "c.1123-11G>A" "r.(=)" "p.(=)" "" "0000565525" "00006604" "30" "1047" "0" "1047" "0" "c.1047C>T" "r.(?)" "p.(His349=)" "" "0000565526" "00006604" "30" "1027" "0" "1027" "0" "c.1027G>A" "r.(?)" "p.(Val343Ile)" "" "0000565527" "00006604" "30" "996" "-8" "996" "-8" "c.996-8dup" "r.(=)" "p.(=)" "" "0000565528" "00006604" "10" "948" "0" "948" "0" "c.948C>T" "r.(?)" "p.(Asp316=)" "" "0000565530" "00006604" "50" "874" "0" "874" "0" "c.874G>A" "r.(?)" "p.(Asp292Asn)" "" "0000565531" "00006604" "30" "871" "0" "871" "0" "c.871A>G" "r.(?)" "p.(Lys291Glu)" "" "0000565532" "00006604" "30" "871" "0" "871" "0" "c.871A>G" "r.(?)" "p.(Lys291Glu)" "" "0000565533" "00006604" "10" "843" "8" "843" "8" "c.843+8C>T" "r.(=)" "p.(=)" "" "0000565534" "00006604" "50" "843" "8" "843" "8" "c.843+8C>T" "r.(=)" "p.(=)" "" "0000565535" "00006604" "30" "843" "8" "843" "8" "c.843+8C>T" "r.(=)" "p.(=)" "" "0000565537" "00006604" "30" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Pro252Ser)" "" "0000565538" "00006604" "30" "683" "0" "683" "0" "c.683G>A" "r.(?)" "p.(Gly228Glu)" "" "0000565539" "00006604" "30" "445" "171" "445" "171" "c.445+171C>T" "r.(=)" "p.(=)" "" "0000565540" "00006604" "30" "382" "0" "382" "0" "c.382C>A" "r.(?)" "p.(Pro128Thr)" "" "0000565541" "00006604" "10" "358" "0" "358" "0" "c.358G>C" "r.(?)" "p.(Val120Leu)" "" "0000565542" "00006604" "30" "358" "0" "358" "0" "c.358G>C" "r.(?)" "p.(Val120Leu)" "" "0000565543" "00006604" "50" "302" "0" "302" "0" "c.302G>A" "r.(?)" "p.(Arg101Gln)" "" "0000565544" "00006604" "10" "290" "0" "290" "0" "c.290A>G" "r.(?)" "p.(His97Arg)" "" "0000565545" "00006604" "30" "290" "0" "290" "0" "c.290A>G" "r.(?)" "p.(His97Arg)" "" "0000565546" "00006604" "50" "208" "0" "208" "0" "c.208A>G" "r.(?)" "p.(Lys70Glu)" "" "0000565547" "00006604" "30" "206" "0" "206" "0" "c.206G>A" "r.(?)" "p.(Arg69His)" "" "0000565548" "00006604" "10" "117" "19" "117" "19" "c.117+19T>C" "r.(=)" "p.(=)" "" "0000565549" "00006604" "30" "81" "-3" "81" "-3" "c.81-3C>T" "r.spl?" "p.?" "" "0000565550" "00006604" "30" "81" "-3" "81" "-3" "c.81-3C>T" "r.spl?" "p.?" "" "0000565551" "00006604" "30" "-17" "0" "-17" "0" "c.-17C>G" "r.(?)" "p.(=)" "" "0000578032" "00006604" "00" "987" "0" "987" "0" "c.987dup" "r.(?)" "p.(Lys330Glnfs*35)" "" "0000617268" "00006604" "50" "4065" "0" "4065" "0" "c.4065C>T" "r.(?)" "p.(Thr1355=)" "" "0000617269" "00006604" "30" "3912" "0" "3912" "0" "c.3912C>T" "r.(?)" "p.(Tyr1304=)" "" "0000617270" "00006604" "30" "3901" "-5" "3901" "-5" "c.3901-5dup" "r.spl?" "p.?" "" "0000617271" "00006604" "50" "3628" "0" "3628" "0" "c.3628C>T" "r.(?)" "p.(Arg1210Trp)" "" "0000617272" "00006604" "30" "3146" "0" "3146" "0" "c.3146C>T" "r.(?)" "p.(Ala1049Val)" "" "0000617273" "00006604" "30" "3068" "3" "3068" "3" "c.3068+3C>G" "r.spl?" "p.?" "" "0000617274" "00006604" "10" "2415" "0" "2415" "0" "c.2415C>T" "r.(?)" "p.(Leu805=)" "" "0000617275" "00006604" "30" "2069" "13" "2069" "13" "c.2069+13G>A" "r.(=)" "p.(=)" "" "0000617276" "00006604" "30" "1972" "-10" "1972" "-10" "c.1972-10C>T" "r.(=)" "p.(=)" "" "0000617277" "00006604" "30" "1377" "0" "1377" "0" "c.1377C>T" "r.(?)" "p.(Gly459=)" "" "0000617278" "00006604" "30" "877" "0" "877" "0" "c.877C>G" "r.(?)" "p.(Leu293Val)" "" "0000617279" "00006604" "30" "639" "0" "639" "0" "c.639T>G" "r.(?)" "p.(Val213=)" "" "0000617280" "00006604" "30" "290" "0" "290" "0" "c.290A>G" "r.(?)" "p.(His97Arg)" "" "0000623906" "00006604" "30" "3591" "0" "3591" "0" "c.3591G>A" "r.(?)" "p.(Leu1197=)" "" "0000623907" "00006604" "50" "3098" "0" "3098" "0" "c.3098C>T" "r.(?)" "p.(Ala1033Val)" "" "0000623908" "00006604" "50" "2872" "0" "2872" "0" "c.2872C>T" "r.(?)" "p.(Arg958Cys)" "" "0000623909" "00006604" "30" "2619" "0" "2619" "0" "c.2619C>T" "r.(?)" "p.(Tyr873=)" "" "0000623910" "00006604" "30" "1323" "0" "1323" "0" "c.1323A>G" "r.(?)" "p.(Pro441=)" "" "0000623912" "00006604" "30" "406" "0" "406" "0" "c.406C>T" "r.(?)" "p.(Arg136Cys)" "" "0000623913" "00006604" "30" "393" "0" "393" "0" "c.393C>T" "r.(?)" "p.(Pro131=)" "" "0000649869" "00006604" "30" "206" "0" "206" "0" "c.206G>A" "r.(?)" "p.(Arg69His)" "" "0000658440" "00006604" "50" "4393" "0" "4393" "0" "c.4393G>A" "r.(?)" "p.(Gly1465Ser)" "" "0000658441" "00006604" "30" "3476" "-16" "3476" "-16" "c.3476-16G>A" "r.(=)" "p.(=)" "" "0000658443" "00006604" "30" "1596" "6" "1596" "6" "c.1596+6A>G" "r.(=)" "p.(=)" "" "0000658444" "00006604" "30" "150" "0" "150" "0" "c.150C>T" "r.(?)" "p.(His50=)" "" "0000658445" "00006604" "30" "150" "0" "150" "0" "c.150C>T" "r.(?)" "p.(His50=)" "" "0000681215" "00006604" "30" "4830" "0" "4830" "0" "c.4830G>A" "r.(?)" "p.(Glu1610=)" "" "0000681216" "00006604" "50" "3136" "0" "3136" "0" "c.3136G>A" "r.(?)" "p.(Asp1046Asn)" "" "0000681217" "00006604" "30" "2680" "0" "2680" "0" "c.2680G>T" "r.(?)" "p.(Val894Leu)" "" "0000681218" "00006604" "30" "1824" "0" "1824" "0" "c.1824C>A" "r.(?)" "p.(Thr608=)" "" "0000681219" "00006604" "50" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Pro252Ser)" "" "0000681220" "00006604" "30" "628" "0" "628" "0" "c.628A>G" "r.(?)" "p.(Arg210Gly)" "" "0000681221" "00006604" "30" "445" "171" "445" "171" "c.445+171C>T" "r.(=)" "p.(=)" "" "0000681222" "00006604" "50" "406" "0" "406" "0" "c.406C>T" "r.(?)" "p.(Arg136Cys)" "" "0000681223" "00006604" "30" "393" "0" "393" "0" "c.393C>T" "r.(?)" "p.(Pro131=)" "" "0000692635" "00006604" "30" "3912" "0" "3912" "0" "c.3912C>T" "r.(?)" "p.(Tyr1304=)" "" "0000692636" "00006604" "50" "3109" "0" "3109" "0" "c.3109G>A" "r.(?)" "p.(Ala1037Thr)" "" "0000692637" "00006604" "30" "785" "0" "785" "0" "c.785C>T" "r.(?)" "p.(Pro262Leu)" "" "0000692638" "00006604" "10" "683" "0" "683" "0" "c.683G>A" "r.(?)" "p.(Gly228Glu)" "" "0000692639" "00006604" "30" "387" "0" "387" "0" "c.387C>T" "r.(?)" "p.(Pro129=)" "" "0000727030" "00006604" "50" "4064" "0" "4064" "0" "c.4064C>T" "r.(?)" "p.(Thr1355Ile)" "" "0000727031" "00006604" "30" "3912" "0" "3912" "0" "c.3912C>T" "r.(?)" "p.(Tyr1304=)" "" "0000727032" "00006604" "50" "3136" "0" "3136" "0" "c.3136G>A" "r.(?)" "p.(Asp1046Asn)" "" "0000727033" "00006604" "50" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Arg101Trp)" "" "0000727034" "00006604" "50" "11" "0" "11" "0" "c.11G>A" "r.(?)" "p.(Arg4His)" "" "0000763807" "00006604" "70" "1571" "0" "1571" "0" "c.1571A>G" "r.(?)" "p.(Tyr524Cys)" "" "0000808597" "00006604" "50" "3019" "0" "3019" "0" "c.3019G>A" "r.(?)" "p.(Gly1007Ser)" "" "0000808598" "00006604" "30" "2517" "0" "2517" "0" "c.2517C>T" "r.(?)" "p.(Pro839=)" "" "0000808599" "00006604" "30" "410" "0" "410" "0" "c.410C>T" "r.(?)" "p.(Thr137Met)" "" "0000808600" "00006604" "30" "27" "0" "27" "0" "c.27G>A" "r.(?)" "p.(Arg9=)" "" "0000847473" "00006604" "50" "1202" "0" "1202" "0" "c.1202C>T" "r.(?)" "p.(Ala401Val)" "14" "0000855385" "00006604" "50" "3119" "0" "3119" "0" "c.3119A>G" "r.(?)" "p.(Asn1040Ser)" "" "0000855386" "00006604" "30" "2157" "0" "2157" "0" "c.2157C>T" "r.(?)" "p.(His719=)" "" "0000855387" "00006604" "10" "1896" "0" "1896" "0" "c.1896C>T" "r.(?)" "p.(Phe632=)" "" "0000881147" "00006604" "90" "1484" "0" "1484" "0" "c.1484A>G" "r.(?)" "p.(Tyr495Cys)" "" "0000894659" "00006604" "30" "3303" "0" "3303" "0" "c.3303C>T" "r.(?)" "p.(Asn1101=)" "" "0000894660" "00006604" "50" "3148" "0" "3148" "0" "c.3148G>A" "r.(?)" "p.(Val1050Met)" "" "0000894661" "00006604" "30" "1176" "0" "1176" "0" "c.1176C>T" "r.(?)" "p.(Asn392=)" "" "0000894662" "00006604" "30" "1101" "0" "1101" "0" "c.1101T>C" "r.(?)" "p.(Tyr367=)" "" "0000894663" "00006604" "30" "996" "-9" "996" "-9" "c.996-9T>C" "r.(=)" "p.(=)" "" "0000894664" "00006604" "30" "720" "18" "720" "18" "c.720+18C>A" "r.(=)" "p.(=)" "" "0000894665" "00006604" "30" "720" "12" "720" "12" "c.720+12T>A" "r.(=)" "p.(=)" "" "0000894666" "00006604" "50" "711" "0" "711" "0" "c.711A>C" "r.(?)" "p.(Arg237Ser)" "" "0000894667" "00006604" "30" "387" "0" "387" "0" "c.387C>T" "r.(?)" "p.(Pro129=)" "" "0000915089" "00006604" "50" "3782" "0" "3782" "0" "c.3782G>A" "r.(?)" "p.(Arg1261Gln)" "" "0000915090" "00006604" "30" "3262" "-18" "3262" "-18" "c.3262-18C>T" "r.(=)" "p.(=)" "" "0000915091" "00006604" "30" "118" "-15" "118" "-15" "c.118-15A>G" "r.(=)" "p.(=)" "" "0000926778" "00006604" "30" "3262" "-18" "3262" "-18" "c.3262-18C>T" "r.(=)" "p.(=)" "" "0000926779" "00006604" "30" "689" "0" "689" "0" "c.689G>A" "r.(?)" "p.(Arg230His)" "" "0000930979" "00006604" "30" "2424" "0" "2424" "0" "c.2424G>A" "r.(?)" "p.(Thr808=)" "" "0000951174" "00006604" "30" "3528" "0" "3528" "0" "c.3528G>A" "r.(?)" "p.(=)" "" "0000951175" "00006604" "50" "2342" "0" "2342" "0" "c.2342C>G" "r.(?)" "p.(Ala781Gly)" "" "0000969494" "00006604" "50" "3865" "0" "3865" "0" "c.3865C>T" "r.(?)" "p.(Arg1289Cys)" "" "0000969496" "00006604" "30" "929" "0" "929" "0" "c.929A>C" "r.(?)" "p.(Gln310Pro)" "" "0000983131" "00006604" "50" "4843" "0" "4843" "0" "c.4843A>G" "r.(?)" "p.(Lys1615Glu)" "" "0001004274" "00006604" "50" "4388" "0" "4388" "0" "c.4388A>G" "r.(?)" "p.(Lys1463Arg)" "" "0001004275" "00006604" "50" "3473" "0" "3473" "0" "c.3473C>T" "r.(?)" "p.(Ala1158Val)" "" "0001004276" "00006604" "50" "3187" "0" "3187" "0" "c.3187G>A" "r.(?)" "p.(Glu1063Lys)" "" "0001004277" "00006604" "30" "2517" "0" "2517" "0" "c.2517C>T" "r.(?)" "p.(Pro839=)" "" "0001004278" "00006604" "10" "2424" "0" "2424" "0" "c.2424G>A" "r.(?)" "p.(Thr808=)" "" "0001004279" "00006604" "30" "881" "0" "881" "0" "c.881C>T" "r.(?)" "p.(Ala294Val)" "" "0001004280" "00006604" "50" "539" "0" "539" "0" "c.539C>G" "r.(?)" "p.(Pro180Arg)" "" "0001004281" "00006604" "30" "445" "0" "445" "0" "c.445C>T" "r.(?)" "p.(Pro149Ser)" "" "0001004282" "00006604" "30" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136His)" "" "0001022180" "00006604" "50" "80" "1" "80" "1" "c.80+1G>A" "r.[80_81insATAG,=]" "p.Arg27Ter" "1i" "0001042532" "00006604" "30" "3765" "0" "3765" "0" "c.3765C>T" "r.(?)" "p.(Cys1255=)" "" "0001042533" "00006604" "50" "2840" "0" "2840" "0" "c.2840C>T" "r.(?)" "p.(Thr947Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000118354" "0000194450" "0000118355" "0000194451" "0000118356" "0000194452" "0000118357" "0000194453" "0000249285" "0000578032" "0000293180" "0000649869" "0000336107" "0000763807" "0000410208" "0000847473" "0000420788" "0000881147" "0000462653" "0001022180"