### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DNMT3B) # 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}}" "DNMT3B" "DNA (cytosine-5-)-methyltransferase 3 beta" "20" "q11.2" "unknown" "NG_007290.1" "UD_132118651520" "" "https://www.LOVD.nl/DNMT3B" "" "1" "2979" "1789" "602900" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "" "" "1" "" "" "-1" "" "-1" "00002" "2012-05-01 00:00:00" "00006" "2019-06-28 16:58:21" "00000" "2025-07-08 13:22:38" ## 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}}" "00000188" "DNMT3B" "DNA (cytosine-5-)-methyltransferase 3 beta, transcript variant 1" "001" "NM_006892.3" "" "NP_008823.1" "" "" "" "-321" "4015" "2562" "31350191" "31397162" "00002" "2012-05-11 13:12:22" "" "" ## 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}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "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" "00752" "ICF1" "immunodeficiency-centromeric instability-facial anomalies syndrome, type 1 (ICF-1)" "AR" "242860" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04235" "FSHD" "dystrophy, muscular, facioscapulohumeral (FSHD)" "" "" "" "" "" "00006" "2015-04-04 18:14:08" "" "" "04273" "ICF" "immunodeficiency-centromeric instability-facial anomalies syndrome (ICF)" "" "" "" "" "" "00006" "2015-05-18 08:56:14" "" "" "05793" "IMD74" "immunodeficiency, type 74, COVID19-related, X-linked" "XLR" "301051" "" "" "" "00006" "2020-07-24 22:16:50" "00006" "2025-08-26 15:50:59" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "DNMT3B" "00139" "DNMT3B" "00752" "DNMT3B" "04273" ## Individuals ## Do not remove or alter this header ## ## Count = 35 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00000029" "" "" "" "1" "" "00004" "{PMID:Almomani 2011:21102627}" "" "" "" "" "" "0" "" "" "" "" "00038674" "" "" "" "2" "" "00006" "{PMID:Hansen 1999:10588719}" "2-generation family, 2 affecteds brothers, unaffected carrier parents" "M" "yes" "Netherlands" "" "0" "" "" "" "" "00038675" "" "" "" "1" "" "00006" "{PMID:Hansen 1999:10588719}" "1-generation family, 1 affected, unaffected carrier parents" "F" "yes" "Turkey" "" "0" "" "" "" "" "00038676" "" "" "" "1" "" "00006" "{PMID:Hansen 1999:10588719}" "2-generation family, 1 affected, unaffected carrier parents" "F" "no" "United States" "" "0" "" "" "" "" "00038677" "" "" "" "3" "" "00006" "{PMID:Hansen 1999:10588719}" "" "" "" "" "" "0" "" "" "" "" "00038678" "" "" "" "1" "" "00006" "{PMID:Xu 1999:10647011}" "" "" "yes" "" "" "0" "" "" "" "" "00038679" "" "" "" "1" "" "00006" "{PMID:Xu 1999:10647011}" "" "" "yes" "Denmark" "" "0" "" "" "" "" "00038680" "" "" "" "1" "" "00006" "{PMID:Xu 1999:10647011}" "" "" "yes" "Denmark" "" "0" "" "" "" "" "00038681" "" "" "" "1" "" "00006" "{PMID:Xu 1999:10647011}" "" "" "no" "" "" "0" "" "" "" "" "00038682" "" "" "" "1" "" "00006" "{PMID:Xu 1999:10647011}" "" "" "no" "" "" "0" "" "" "" "" "00038683" "" "" "" "1" "" "00006" "{PMID:Wijmenga 2000:11102980}" "" "" "no" "Netherlands Antilles" "" "0" "" "" "" "" "00038684" "" "" "" "1" "" "00006" "{PMID:Wijmenga 2000:11102980}" "" "" "yes" "Lebanon" "" "0" "" "" "" "" "00038685" "" "" "" "1" "" "00006" "{PMID:Wijmenga 2000:11102980}" "" "" "no" "Italy" "" "0" "" "" "" "" "00038686" "" "" "" "1" "" "00006" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00038687" "" "" "" "1" "" "00006" "{PMID:Wijmenga 2000:11102980}" "" "" "no" "Germany" "" "0" "" "" "" "" "00038688" "" "" "" "1" "" "00006" "{PMID:Ehrlich 2001:11741835}" "" "" "" "" "" "0" "" "" "" "" "00038689" "" "" "" "1" "" "00006" "{PMID:Shirohzu 2002:12239717}" "" "M" "no" "Japan" "" "0" "" "" "" "" "00038690" "" "" "" "1" "" "00006" "{PMID:Shirohzu 2002:12239717}" "" "F" "yes" "Japan" "" "0" "" "" "" "" "00038691" "" "" "" "1" "" "00006" "{PMID:Shirohzu 2002:12239717}" "" "M" "no" "Japan" "" "0" "" "" "" "" "00038692" "" "" "" "1" "" "00006" "{PMID:Kaya 2010:21120685}" "" "" "" "" "" "0" "" "" "" "" "00059205" "" "" "" "1" "" "01553" "{PMID:van den Boogaard 2016:27153398}" "" "M" "no" "Finland" "" "0" "" "" "" "" "00059206" "" "" "" "1" "" "01553" "{PMID:van den Boogaard 2016:27153398}" "" "M" "-" "Finland" "" "0" "" "" "" "" "00059223" "" "" "" "1" "" "01553" "{PMID:van den Boogaard 2016:27153398}" "" "F" "no" "Netherlands" "?" "0" "" "" "" "" "00059224" "" "" "" "1" "" "01553" "{PMID:van den Boogaard 2016:27153398}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00059225" "" "" "" "1" "" "01553" "{PMID:van den Boogaard 2016:27153398}" "" "M" "no" "Netherlands" "?" "0" "" "" "" "" "00100246" "" "" "" "1" "" "01553" "{PMID:van den Boogaard 2017:28128455}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Turkey" "" "0" "" "IVIG" "" "Rf1648-2.1" "00100247" "" "" "" "2" "" "01553" "{PMID:van den Boogaard 2017:28128455}" "2-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents" "F" "no" "Turkey" "" "0" "" "IVIG" "" "Rf1840-2.1" "00100248" "" "" "00100247" "1" "" "01553" "{PMID:van den Boogaard 2017:28128455}" "" "M" "no" "Turkey" "" "0" "" "IVIG" "" "Rf1840-2.2" "00100249" "" "" "" "3" "" "01553" "{PMID:van den Boogaard 2017:28128455}" "6-generation family, 3 affecteds (2F, M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Turkey" "" "0" "" "IVIG" "" "Rf1771-2.1" "00100250" "" "" "00100249" "1" "" "01553" "{PMID:van den Boogaard 2017:28128455}" "twin sister of Rf1771-4.3" "F" "yes" "Turkey" "" "0" "" "IVIG" "" "Rf1771-4.2" "00100251" "" "" "00100249" "1" "" "01553" "{PMID:van den Boogaard 2017:28128455}" "twin sister of Rf1771-4.2" "F" "yes" "Turkey" "" "0" "" "IVIG" "" "Rf1771-4.3" "00100252" "" "" "" "1" "" "01553" "{PMID:van den Boogaard 2017:28128455}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Argentina" "" "0" "" "IVIG" "" "Rf1693-2.4" "00292908" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292909" "" "" "" "10" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00334497" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 34 "{{individualid}}" "{{diseaseid}}" "00038674" "00752" "00038675" "00752" "00038676" "00752" "00038677" "00000" "00038678" "00752" "00038679" "00752" "00038680" "00752" "00038681" "00752" "00038682" "00752" "00038683" "00752" "00038684" "00752" "00038685" "00752" "00038686" "00752" "00038687" "00752" "00038688" "00752" "00038689" "00752" "00038690" "00752" "00038691" "00752" "00038692" "00752" "00059205" "04235" "00059206" "00000" "00059223" "04235" "00059224" "00000" "00059225" "04235" "00100246" "00752" "00100247" "00752" "00100248" "00752" "00100249" "00752" "00100250" "00752" "00100251" "00752" "00100252" "00752" "00292908" "00198" "00292909" "00198" "00334497" "05793" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 00752, 04235, 04273, 05793 ## Count = 30 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Weight}}" "{{Phenotype/Infections/Recurrent}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Development_delay_global/HPO_0001263}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000029069" "00752" "00038674" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029070" "00752" "00038675" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029071" "00752" "00038676" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029072" "00000" "00038677" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029073" "00752" "00038678" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029074" "00752" "00038679" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029075" "00752" "00038680" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029076" "00752" "00038681" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029077" "00752" "00038682" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029078" "00752" "00038683" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029079" "00752" "00038684" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029080" "00752" "00038685" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029081" "00752" "00038686" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029082" "00752" "00038687" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029083" "00752" "00038688" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029084" "00752" "00038689" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029085" "00752" "00038690" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029086" "00752" "00038691" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029087" "00752" "00038692" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046737" "04235" "00059205" "01553" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046738" "04235" "00059223" "01553" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046739" "04235" "00059225" "01553" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078570" "00752" "00100247" "01553" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078571" "00752" "00100248" "01553" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078572" "00752" "00100246" "01553" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078573" "00752" "00100249" "01553" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078574" "00752" "00100250" "01553" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078575" "00752" "00100251" "01553" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078576" "00752" "00100252" "01553" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000253210" "05793" "00334497" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" ## Screenings ## Do not remove or alter this header ## ## Count = 35 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000029" "00000029" "1" "00004" "" "2012-05-11 13:18:42" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000038910" "00038674" "1" "00006" "00006" "2012-10-16 18:52:37" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000038911" "00038675" "1" "00006" "00006" "2012-10-16 18:52:37" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000038912" "00038676" "1" "00006" "00006" "2012-10-16 18:52:37" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000038913" "00038677" "1" "00006" "00006" "2012-10-16 18:52:37" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000038914" "00038678" "1" "00006" "00006" "2012-10-16 18:52:37" "" "" "SEQ" "DNA" "" "" "0000038915" "00038679" "1" "00006" "00006" "2012-10-16 18:52:37" "" "" "SEQ" "DNA" "" "" "0000038916" "00038680" "1" "00006" "00006" "2012-10-16 18:52:37" "" "" "SEQ" "DNA" "" "" "0000038917" "00038681" "1" "00006" "00006" "2012-10-16 18:52:37" "" "" "SEQ" "DNA" "" "" "0000038918" "00038682" "1" "00006" "00006" "2012-10-16 18:52:37" "00006" "2015-05-21 17:36:39" "SEQ" "DNA" "" "" "0000038919" "00038683" "1" "00006" "00006" "2012-10-16 18:52:37" "" "" "SEQ" "DNA" "" "" "0000038920" "00038684" "1" "00006" "00006" "2012-10-16 18:52:37" "" "" "SEQ" "DNA" "" "" "0000038921" "00038685" "1" "00006" "00006" "2012-10-16 18:52:37" "" "" "SEQ" "DNA" "" "" "0000038922" "00038686" "1" "00006" "00006" "2012-10-16 18:52:37" "" "" "SEQ" "DNA" "" "" "0000038923" "00038687" "1" "00006" "00006" "2012-10-16 18:52:37" "" "" "SEQ" "DNA" "" "" "0000038924" "00038688" "1" "00006" "00006" "2012-10-16 18:52:37" "" "" "SEQ" "DNA" "" "" "0000038925" "00038689" "1" "00006" "00006" "2012-10-16 18:52:37" "01301" "2013-02-04 12:10:05" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000038926" "00038690" "1" "00006" "00006" "2012-10-16 18:52:37" "01301" "2013-02-04 11:59:57" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000038927" "00038691" "1" "00006" "00006" "2012-10-16 18:52:37" "01301" "2013-02-04 11:59:31" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000038928" "00038692" "1" "00006" "00006" "2012-10-16 18:52:37" "01301" "2013-02-04 12:07:51" "SEQ" "DNA" "" "" "0000059191" "00059205" "1" "01553" "01553" "2016-03-02 14:05:37" "" "" "SEQ-NG" "DNA" "" "" "0000059192" "00059206" "1" "01553" "01553" "2016-03-02 14:49:14" "" "" "SEQ-NG" "DNA" "" "" "0000059210" "00059223" "1" "01553" "01553" "2016-03-04 09:35:20" "" "" "SEQ-NG" "DNA" "" "" "0000059211" "00059224" "1" "01553" "01553" "2016-03-04 09:44:34" "" "" "SEQ-NG" "DNA" "" "" "0000059212" "00059225" "1" "01553" "01553" "2016-03-04 09:51:44" "" "" "SEQ-NG" "DNA" "" "" "0000100649" "00100246" "1" "01553" "01553" "2017-02-09 09:43:13" "" "" "SEQ" "DNA" "" "" "0000100650" "00100247" "1" "01553" "01553" "2017-02-09 11:16:47" "" "" "SEQ" "DNA" "" "" "0000100651" "00100248" "1" "01553" "01553" "2017-02-09 11:26:31" "" "" "SEQ" "DNA" "" "" "0000100652" "00100249" "1" "01553" "01553" "2017-02-09 11:30:42" "" "" "SEQ" "DNA" "" "" "0000100653" "00100250" "1" "01553" "01553" "2017-02-09 11:34:34" "" "" "SEQ" "DNA" "" "" "0000100654" "00100251" "1" "01553" "01553" "2017-02-09 11:37:28" "" "" "SEQ" "DNA" "" "" "0000100655" "00100252" "1" "01553" "01553" "2017-02-09 11:40:45" "" "" "SEQ" "DNA" "" "" "0000294076" "00292908" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294077" "00292909" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000335726" "00334497" "1" "04011" "04011" "2021-03-01 06:53:46" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 57 "{{screeningid}}" "{{geneid}}" "0000000029" "ALG9" "0000000029" "ASPM" "0000000029" "B3GLCT" "0000000029" "BBS1" "0000000029" "CBS" "0000000029" "CC2D1A" "0000000029" "CDK5RAP2" "0000000029" "DLG3" "0000000029" "DNMT3B" "0000000029" "DPM1" "0000000029" "DPP3" "0000000029" "GLI3" "0000000029" "JAG1" "0000000029" "KRAS" "0000000029" "MECP2" "0000000029" "MPDU1" "0000000029" "NLGN4X" "0000000029" "NSD1" "0000000029" "PHF8" "0000000029" "PMM2" "0000000029" "RAI1" "0000000029" "REST" "0000000029" "SATB2" "0000000029" "SCN8A" "0000000029" "SHANK3" "0000000029" "SLC35C1" "0000000029" "TCF4" "0000000029" "TSC1" "0000000029" "UPF3B" "0000000029" "ZEB2" "0000000029" "ZNF41" "0000038910" "DNMT3B" "0000038911" "DNMT3B" "0000038912" "DNMT3B" "0000038913" "DNMT3B" "0000038914" "DNMT3B" "0000038915" "DNMT3B" "0000038916" "DNMT3B" "0000038917" "DNMT3B" "0000038918" "DNMT3B" "0000038919" "DNMT3B" "0000038920" "DNMT3B" "0000038921" "DNMT3B" "0000038922" "DNMT3B" "0000038923" "DNMT3B" "0000038924" "DNMT3B" "0000038925" "DNMT3B" "0000038926" "DNMT3B" "0000038927" "DNMT3B" "0000038928" "DNMT3B" "0000100649" "DNMT3B" "0000100650" "DNMT3B" "0000100651" "DNMT3B" "0000100652" "DNMT3B" "0000100653" "DNMT3B" "0000100654" "DNMT3B" "0000100655" "DNMT3B" ## 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 = 154 "{{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}}" "0000000895" "3" "30" "20" "31396536" "31396536" "subst" "0" "00002" "DNMT3B_000010" "g.31396536A>G" "" "{PMID:Almomani 2011:21102627}" "" "" "" "Germline" "" "rs2424932" "0" "" "" "g.32808730A>G" "" "likely benign" "" "0000066718" "3" "90" "20" "31390222" "31390222" "subst" "8.1211E-6" "00006" "DNMT3B_000001" "g.31390222T>G" "" "{PMID:Hansen 1999:10588719}" "EcoNI+" "" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.32802416T>G" "" "pathogenic" "" "0000066719" "3" "90" "20" "31395557" "31395557" "subst" "0" "00006" "DNMT3B_000002" "g.31395557G>A" "" "{PMID:Hansen 1999:10588719}" "" "IVS21-11G>A" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.32807751G>A" "" "pathogenic" "" "0000066720" "21" "90" "20" "31388006" "31388006" "subst" "8.1211E-6" "00006" "DNMT3B_000003" "g.31388006G>A" "" "{PMID:Hansen 1999:10588719}" "" "" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.32800200G>A" "" "pathogenic" "" "0000066721" "1" "30" "20" "31386347" "31386347" "subst" "0.580117" "00006" "DNMT3B_000004" "g.31386347T>C" "" "{PMID:Hansen 1999:10588719}" "" "C524C" "linked variants" "Germline" "" "" "0" "" "" "g.32798541T>C" "" "likely benign" "" "0000066722" "3" "90" "20" "31395597" "31395597" "subst" "0" "00006" "DNMT3B_000011" "g.31395597A>G" "" "{PMID:Xu 1999:10647011}" "" "(Asp809Gly)" "" "Germline" "" "" "0" "" "" "g.32807791A>G" "" "pathogenic" "" "0000066723" "3" "90" "20" "31395599" "31395599" "subst" "2.84446E-5" "00006" "DNMT3B_000012" "g.31395599G>A" "" "{PMID:Xu 1999:10647011}" "" "(Val810Met)" "" "Germline" "" "" "0" "" "" "g.32807793G>A" "" "pathogenic" "" "0000066724" "3" "90" "20" "31388726" "31388726" "subst" "0" "00006" "DNMT3B_000009" "g.31388726T>C" "" "{PMID:Xu 1999:10647011}" "" "(Leu656Thr)" "Leu656Thr not possible" "Germline" "" "" "0" "" "" "g.32800920T>C" "" "pathogenic" "" "0000066725" "1" "90" "20" "31388722" "31388722" "subst" "0" "00006" "DNMT3B_000008" "g.31388722G>A" "" "{PMID:Xu 1999:10647011}" "" "(Gly655Ser)" "" "Germline" "" "" "0" "" "" "g.32800916G>A" "" "pathogenic" "" "0000066726" "11" "30" "20" "31393352" "31393352" "subst" "0" "00006" "DNMT3B_000006" "g.31393352A>G" "" "{PMID:Xu 1999:10647011}" "" "G65452A" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.32805546A>G" "" "likely benign" "" "0000066727" "21" "90" "20" "31369176" "31369176" "subst" "4.06068E-6" "00006" "DNMT3B_000014" "g.31369176C>T" "" "{PMID:Wijmenga 2000:11102980}" "" "" "" "Germline" "" "" "0" "" "" "g.32781370C>T" "" "pathogenic" "" "0000066728" "3" "90" "20" "31387129" "31387129" "subst" "0" "00006" "DNMT3B_000015" "g.31387129C>T" "" "{PMID:Wijmenga 2000:11102980}" "" "" "" "Germline" "" "" "0" "" "" "g.32799323C>T" "" "pathogenic" "" "0000066729" "1" "90" "20" "31395588" "31395588" "subst" "0" "00006" "DNMT3B_000016" "g.31395588A>G" "" "{PMID:Wijmenga 2000:11102980}" "" "" "" "Germline" "" "" "0" "" "" "g.32807782A>G" "" "pathogenic" "" "0000066730" "21" "50" "20" "0" "0" "" "0" "00006" "DNMT3B_000000" "g.?" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000066731" "21" "90" "20" "31375213" "31375213" "subst" "0" "00006" "DNMT3B_000019" "g.31375213C>T" "" "{PMID:Wijmenga 2000:11102980}" "" "" "" "Germline" "" "" "0" "" "" "g.32787407C>T" "" "pathogenic" "" "0000066732" "1" "90" "20" "31395614" "31395614" "subst" "0" "00006" "DNMT3B_000020" "g.31395614C>G" "" "{PMID:Ehrlich 2001:11741835}" "" "" "" "Unknown" "" "" "0" "" "" "g.32807808C>G" "" "pathogenic" "" "0000066733" "21" "90" "20" "31395666" "31395666" "subst" "8.12328E-6" "00006" "DNMT3B_000021" "g.31395666G>A" "" "{PMID:Shirohzu 2002:12239717}" "" "" "" "Germline" "" "" "0" "" "" "g.32807860G>A" "" "pathogenic" "" "0000066734" "11" "90" "20" "31376813" "31376813" "subst" "0" "00006" "DNMT3B_000022" "g.31376813T>C" "" "{PMID:Shirohzu 2002:12239717}" "" "" "" "Germline" "" "" "0" "" "" "g.32789007T>C" "" "pathogenic" "" "0000066735" "11" "90" "20" "31368217" "31368217" "subst" "0" "00006" "DNMT3B_000023" "g.31368217C>T" "" "{PMID:Shirohzu 2002:12239717}" "" "" "" "Germline" "" "" "0" "" "" "g.32780411C>T" "" "pathogenic" "" "0000066736" "0" "90" "20" "31395653" "31395653" "subst" "0" "00006" "DNMT3B_000024" "g.31395653G>A" "" "{PMID:Kaya 2010:21120685}" "" "" "" "Unknown" "" "" "0" "" "" "g.32807847G>A" "" "pathogenic" "" "0000066743" "10" "90" "20" "31395557" "31395557" "subst" "0" "00006" "DNMT3B_000002" "g.31395557G>A" "" "{PMID:Hansen 1999:10588719}" "" "IVS21-11G>A" "de novo in patient; not in 200 control chromosome" "De novo" "" "" "0" "" "" "g.32807751G>A" "" "pathogenic" "" "0000066744" "1" "30" "20" "31386449" "31386449" "subst" "0.582985" "00006" "DNMT3B_000005" "g.31386449T>C" "" "{PMID:Hansen 1999:10588719}" "" "Y558Y" "linked variants" "Germline" "" "" "0" "" "" "g.32798643T>C" "" "likely benign" "" "0000066745" "1" "30" "20" "31393352" "31393352" "subst" "0" "00006" "DNMT3B_000006" "g.31393352A>G" "" "{PMID:Hansen 1999:10588719}" "" "IVS20+139A>G" "linked variants\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.32805546A>G" "" "likely benign" "" "0000066746" "21" "90" "20" "31390222" "31390222" "subst" "8.1211E-6" "00006" "DNMT3B_000001" "g.31390222T>G" "" "{PMID:Xu 1999:10647011}" "" "(Val718Gly)" "" "Germline" "" "" "0" "" "" "g.32802416T>G" "" "pathogenic" "" "0000066747" "11" "90" "20" "0" "0" "" "0" "00006" "DNMT3B_000000" "g.?" "" "{PMID:Xu 1999:10647011}" "" "" "unknown variant" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000066748" "21" "90" "20" "31368251" "31368252" "ins" "0" "00006" "DNMT3B_000007" "g.31368251_31368252insA" "" "{PMID:Xu 1999:10647011}" "" "" "" "Germline" "" "" "0" "" "" "g.32780445_32780446insA" "" "pathogenic" "" "0000066749" "11" "30" "20" "31395477" "31395477" "subst" "0" "00006" "DNMT3B_000013" "g.31395477G>A" "" "{PMID:Xu 1999:10647011}" "" "G67577A" "" "Germline" "" "" "0" "" "" "g.32807671G>A" "" "likely benign" "" "0000066750" "11" "30" "20" "31391894" "31391894" "subst" "0" "00006" "DNMT3B_000014" "g.31391894T>C" "" "{PMID:Xu 1999:10647011}" "" "T65903C" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.32804088T>C" "" "likely benign" "" "0000066751" "11" "90" "20" "31389183" "31389183" "subst" "0" "00006" "DNMT3B_000013" "g.31389183T>G" "" "{PMID:Wijmenga 2000:11102980}" "" "" "" "Germline" "" "" "0" "" "" "g.32801377T>G" "" "pathogenic" "" "0000066752" "21" "90" "20" "31395599" "31395599" "subst" "2.84446E-5" "00006" "DNMT3B_000012" "g.31395599G>A" "" "{PMID:Wijmenga 2000:11102980}" "" "" "" "Germline" "" "" "0" "" "" "g.32807793G>A" "" "pathogenic" "" "0000066753" "1" "90" "20" "31393208" "31393208" "subst" "4.06138E-6" "00006" "DNMT3B_000017" "g.31393208G>C" "" "{PMID:Wijmenga 2000:11102980}" "" "" "" "Germline" "" "" "0" "" "" "g.32805402G>C" "" "pathogenic" "" "0000066754" "11" "90" "20" "31388016" "31388016" "subst" "0" "00006" "DNMT3B_000018" "g.31388016T>C" "" "{PMID:Wijmenga 2000:11102980}" "" "" "" "Germline" "" "" "0" "" "" "g.32800210T>C" "" "pathogenic" "" "0000090020" "11" "50" "20" "31389159" "31389159" "subst" "0" "01553" "DNMT3B_000025" "g.31389159C>T" "" "{PMID:van den Boogaard 2016:27153398}" "" "" "variant not reported in dbSNP, the 1000 Genomes Project, the ESP Exome Variant Server, Exome Aggregation Consortium (ExAC), or in-house databases." "Germline" "" "" "0" "D4Z4 hypomethylation" "" "g.32801353C>T" "" "VUS" "" "0000090021" "0" "50" "20" "31389159" "31389159" "subst" "0" "01553" "DNMT3B_000025" "g.31389159C>T" "" "{PMID:van den Boogaard 2016:27153398}" "" "" "variant not reported in dbSNP, the 1000 Genomes Project, the ESP Exome Variant Server, Exome Aggregation Consortium (ExAC), or in-house databases." "Unknown" "" "" "0" "D4Z4 hypomethylation" "" "g.32801353C>T" "" "VUS" "" "0000090047" "0" "50" "20" "31386354" "31386354" "subst" "0" "01553" "DNMT3B_000026" "g.31386354T>C" "" "{PMID:van den Boogaard 2016:27153398}" "" "" "variant not reported in dbSNP, the 1000 Genomes Project, the ESP Exome Variant Server, Exome Aggregation Consortium (ExAC), or in-house databases" "Germline" "" "" "0" "D4Z4 hypomethylation" "" "g.32798548T>C" "" "VUS" "" "0000090048" "21" "50" "20" "31386354" "31386354" "subst" "0" "01553" "DNMT3B_000026" "g.31386354T>C" "" "{PMID:van den Boogaard 2016:27153398}" "" "" "variant not reported in dbSNP, the 1000 Genomes Project, the ESP Exome Variant Server,Exome Aggregation Consortium (ExAC), or in-house databases" "Germline" "" "" "0" "D4Z4 hypomethylation" "" "g.32798548T>C" "" "VUS" "" "0000090049" "0" "50" "20" "31386354" "31386354" "subst" "0" "01553" "DNMT3B_000026" "g.31386354T>C" "" "{PMID:van den Boogaard 2016:27153398}" "" "" "variant not reported in dbSNP, the 1000 Genomes Project, the ESP Exome Variant Server,Exome Aggregation Consortium (ExAC), or in-house databases" "Germline" "" "" "0" "D4Z4 hypomethylation" "" "g.32798548T>C" "" "VUS" "" "0000162954" "3" "90" "20" "31389090" "31389090" "subst" "0" "01553" "DNMT3B_000027" "g.31389090C>T" "" "{PMID:van den Boogaard 2017:28128455}" "" "" "" "Germline" "" "" "0" "" "" "g.32801284C>T" "" "pathogenic" "" "0000162955" "11" "90" "20" "31387125" "31387125" "subst" "4.10948E-6" "01553" "DNMT3B_000029" "g.31387125A>G" "" "{PMID:van den Boogaard 2017:28128455}" "" "" "" "Germline" "" "" "0" "" "" "g.32799319A>G" "" "pathogenic" "" "0000162956" "21" "90" "20" "31395615" "31395615" "subst" "0" "01553" "DNMT3B_000030" "g.31395615G>C" "" "{PMID:van den Boogaard 2017:28128455}" "" "" "" "Germline" "" "" "0" "" "" "g.32807809G>C" "" "pathogenic" "" "0000162957" "11" "90" "20" "31387125" "31387125" "subst" "4.10948E-6" "01553" "DNMT3B_000029" "g.31387125A>G" "" "{PMID:van den Boogaard 2017:28128455}" "" "" "" "Germline" "" "" "0" "" "" "g.32799319A>G" "" "pathogenic" "" "0000162958" "21" "90" "20" "31395615" "31395615" "subst" "0" "01553" "DNMT3B_000030" "g.31395615G>C" "" "{PMID:van den Boogaard 2017:28128455}" "" "" "" "Germline" "" "" "0" "" "" "g.32807809G>C" "" "pathogenic" "" "0000162959" "3" "90" "20" "31389096" "31389096" "subst" "0" "01553" "DNMT3B_000028" "g.31389096G>A" "" "{PMID:van den Boogaard 2017:28128455}" "" "" "" "Germline" "" "" "0" "" "" "g.32801290G>A" "" "pathogenic" "" "0000162960" "3" "90" "20" "31389096" "31389096" "subst" "0" "01553" "DNMT3B_000028" "g.31389096G>A" "" "{PMID:van den Boogaard 2017:28128455}" "" "" "" "Germline" "" "" "0" "" "" "g.32801290G>A" "" "pathogenic" "" "0000162961" "3" "90" "20" "31389096" "31389096" "subst" "0" "01553" "DNMT3B_000028" "g.31389096G>A" "" "{PMID:van den Boogaard 2017:28128455}" "" "" "" "Germline" "" "" "0" "" "" "g.32801290G>A" "" "pathogenic" "" "0000162962" "11" "90" "20" "31388708" "31388708" "subst" "0" "01553" "DNMT3B_000031" "g.31388708A>G" "" "{PMID:van den Boogaard 2017:28128455}" "" "" "" "Germline" "" "" "0" "" "" "g.32800902A>G" "" "pathogenic" "" "0000162963" "21" "90" "20" "31390266" "31390266" "subst" "3.24849E-5" "01553" "DNMT3B_000032" "g.31390266G>A" "" "{PMID:van den Boogaard 2017:28128455}" "" "" "" "Germline" "" "" "0" "" "" "g.32802460G>A" "" "pathogenic" "" "0000249810" "0" "50" "20" "31369209" "31369209" "subst" "0" "02325" "DNMT3B_000035" "g.31369209A>G" "" "" "" "DNMT3B(NM_006892.4):c.193A>G (p.S65G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32781403A>G" "" "VUS" "" "0000251940" "0" "30" "20" "31368200" "31368200" "subst" "0" "02326" "DNMT3B_000033" "g.31368200A>C" "" "" "" "DNMT3B(NM_006892.3):c.71A>C (p.N24T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32780394A>C" "" "likely benign" "" "0000267480" "0" "30" "20" "31383238" "31383238" "subst" "0.00905849" "02325" "DNMT3B_000043" "g.31383238G>A" "" "" "" "DNMT3B(NM_001207055.1):c.964G>A (p.(Ala322Thr)), DNMT3B(NM_006892.3):c.1150G>A (p.A384T), DNMT3B(NM_006892.4):c.1150G>A (p.A384T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32795432G>A" "" "likely benign" "" "0000267481" "0" "10" "20" "31383353" "31383353" "subst" "0.492411" "02325" "DNMT3B_000045" "g.31383353T>G" "" "" "" "DNMT3B(NM_006892.4):c.1252+13T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32795547T>G" "" "benign" "" "0000267482" "0" "10" "20" "31386347" "31386347" "subst" "0.580117" "02325" "DNMT3B_000004" "g.31386347T>C" "" "" "" "DNMT3B(NM_006892.4):c.1572T>C (p.C524=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32798541T>C" "" "benign" "" "0000267483" "0" "10" "20" "31386449" "31386449" "subst" "0.582985" "02325" "DNMT3B_000005" "g.31386449T>C" "" "" "" "DNMT3B(NM_006892.4):c.1674T>C (p.Y558=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32798643T>C" "" "benign" "" "0000267484" "0" "10" "20" "31387954" "31387954" "subst" "0.569149" "02325" "DNMT3B_000053" "g.31387954C>G" "" "" "" "DNMT3B(NM_006892.4):c.1760-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32800148C>G" "" "benign" "" "0000267485" "0" "10" "20" "31388636" "31388636" "subst" "0.575062" "02325" "DNMT3B_000055" "g.31388636T>C" "" "" "" "DNMT3B(NM_006892.4):c.1906-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32800830T>C" "" "benign" "" "0000267486" "0" "50" "20" "31379479" "31379479" "subst" "0.000682217" "02325" "DNMT3B_000041" "g.31379479G>A" "" "" "" "DNMT3B(NM_006892.4):c.886G>A (p.V296I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32791673G>A" "" "VUS" "" "0000270835" "0" "10" "20" "31383238" "31383238" "subst" "0.00905849" "02326" "DNMT3B_000043" "g.31383238G>A" "" "" "" "DNMT3B(NM_001207055.1):c.964G>A (p.(Ala322Thr)), DNMT3B(NM_006892.3):c.1150G>A (p.A384T), DNMT3B(NM_006892.4):c.1150G>A (p.A384T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32795432G>A" "" "benign" "" "0000270836" "0" "30" "20" "31384647" "31384647" "subst" "0" "02326" "DNMT3B_000046" "g.31384647T>C" "" "" "" "DNMT3B(NM_006892.3):c.1349T>C (p.F450S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32796841T>C" "" "likely benign" "" "0000270837" "0" "50" "20" "31384673" "31384673" "subst" "0" "02326" "DNMT3B_000048" "g.31384673C>T" "" "" "" "DNMT3B(NM_006892.3):c.1375C>T (p.R459W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32796867C>T" "" "VUS" "" "0000270838" "0" "50" "20" "31387096" "31387096" "subst" "0" "02326" "DNMT3B_000051" "g.31387096C>G" "" "" "" "DNMT3B(NM_006892.3):c.1721C>G (p.P574R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32799290C>G" "" "VUS" "" "0000270839" "0" "90" "20" "31390222" "31390222" "subst" "8.1211E-6" "02326" "DNMT3B_000001" "g.31390222T>G" "" "" "" "DNMT3B(NM_006892.3):c.2177T>G (p.V726G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32802416T>G" "" "pathogenic" "" "0000270840" "0" "90" "20" "31393133" "31393133" "subst" "0" "02326" "DNMT3B_000057" "g.31393133G>A" "" "" "" "DNMT3B(NM_006892.3):c.2232-11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32805327G>A" "" "pathogenic" "" "0000275447" "0" "30" "20" "31384657" "31384657" "subst" "0.000158364" "01943" "DNMT3B_000047" "g.31384657G>C" "" "" "" "DNMT3B(NM_006892.3):c.1359G>C (p.G453=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32796851G>C" "" "likely benign" "" "0000275448" "0" "30" "20" "31386313" "31386313" "subst" "0.000227946" "01943" "DNMT3B_000049" "g.31386313C>T" "" "" "" "DNMT3B(NM_001207055.1):c.1352C>T (p.(Ala451Val)), DNMT3B(NM_006892.3):c.1538C>T (p.A513V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32798507C>T" "" "likely benign" "" "0000275449" "0" "10" "20" "31386332" "31386332" "subst" "0.00129791" "01943" "DNMT3B_000050" "g.31386332G>A" "" "" "" "DNMT3B(NM_006892.3):c.1557G>A (p.Q519=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32798526G>A" "" "benign" "" "0000275450" "0" "30" "20" "31387951" "31387951" "subst" "0.0051489" "01943" "DNMT3B_000052" "g.31387951C>T" "" "" "" "DNMT3B(NM_001207055.1):c.1574-8C>T (p.(=)), DNMT3B(NM_006892.3):c.1760-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32800145C>T" "" "likely benign" "" "0000275451" "0" "30" "20" "31389106" "31389106" "subst" "3.65485E-5" "01943" "DNMT3B_000056" "g.31389106C>T" "" "" "" "DNMT3B(NM_006892.3):c.2019C>T (p.F673=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32801300C>T" "" "likely benign" "" "0000275452" "0" "30" "20" "31375179" "31375179" "subst" "0" "01943" "DNMT3B_000039" "g.31375179C>T" "" "" "" "DNMT3B(NM_006892.3):c.576C>T (p.A192=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32787373C>T" "" "likely benign" "" "0000275453" "0" "50" "20" "31368202" "31368202" "subst" "0.000781625" "01943" "DNMT3B_000034" "g.31368202G>A" "" "" "" "DNMT3B(NM_001207055.1):c.73G>A (p.(Gly25Arg)), DNMT3B(NM_006892.3):c.73G>A (p.G25R), DNMT3B(NM_006892.4):c.73G>A (p.G25R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32780396G>A" "" "VUS" "" "0000328346" "0" "50" "20" "31372582" "31372582" "subst" "1.21842E-5" "01804" "DNMT3B_000036" "g.31372582G>A" "" "" "" "DNMT3B(NM_001207055.1):c.223G>A (p.(Asp75Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32784776G>A" "" "VUS" "" "0000328348" "0" "50" "20" "31374366" "31374366" "subst" "4.06749E-5" "01804" "DNMT3B_000038" "g.31374366G>A" "" "" "" "DNMT3B(NM_006892.3):c.365G>A (p.(Arg122His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32786560G>A" "" "VUS" "" "0000328349" "0" "50" "20" "31376762" "31376762" "subst" "0" "01804" "DNMT3B_000040" "g.31376762C>G" "" "" "" "DNMT3B(NM_001207055.1):c.631C>G (p.(Gln211Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32788956C>G" "" "VUS" "" "0000328351" "0" "10" "20" "31383299" "31383299" "subst" "0.00797544" "01804" "DNMT3B_000044" "g.31383299A>G" "" "" "" "DNMT3B(NM_001207055.1):c.1025A>G (p.(Tyr342Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32795493A>G" "" "benign" "" "0000328352" "0" "30" "20" "31388056" "31388056" "subst" "1.21817E-5" "01804" "DNMT3B_000054" "g.31388056G>T" "" "" "" "DNMT3B(NM_001207055.1):c.1671G>T (p.(Glu557Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32800250G>T" "" "likely benign" "" "0000348049" "0" "50" "20" "31384635" "31384635" "subst" "0.000150244" "02327" "DNMT3B_000058" "g.31384635T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32796829T>C" "" "VUS" "" "0000569357" "0" "30" "20" "31368196" "31368196" "subst" "6.51089E-5" "01943" "DNMT3B_000059" "g.31368196G>A" "" "" "" "DNMT3B(NM_006892.3):c.67G>A (p.V23I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32780390G>A" "" "likely benign" "" "0000569358" "0" "50" "20" "31368202" "31368202" "subst" "0.000781625" "02325" "DNMT3B_000034" "g.31368202G>A" "" "" "" "DNMT3B(NM_001207055.1):c.73G>A (p.(Gly25Arg)), DNMT3B(NM_006892.3):c.73G>A (p.G25R), DNMT3B(NM_006892.4):c.73G>A (p.G25R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32780396G>A" "" "VUS" "" "0000569359" "0" "30" "20" "31368253" "31368253" "subst" "0.00019672" "02325" "DNMT3B_000060" "g.31368253C>T" "" "" "" "DNMT3B(NM_006892.4):c.124C>T (p.R42C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32780447C>T" "" "likely benign" "" "0000569360" "0" "30" "20" "31369174" "31369174" "subst" "0.000101516" "01943" "DNMT3B_000061" "g.31369174C>T" "" "" "" "DNMT3B(NM_006892.3):c.158C>T (p.S53L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32781368C>T" "" "likely benign" "" "0000569362" "0" "50" "20" "31372648" "31372648" "subst" "1.62551E-5" "01804" "DNMT3B_000063" "g.31372648C>T" "" "" "" "DNMT3B(NM_006892.3):c.289C>T (p.R97C, p.(Arg97Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32784842C>T" "" "VUS" "" "0000569365" "0" "50" "20" "31379501" "31379501" "subst" "0" "01943" "DNMT3B_000066" "g.31379501A>G" "" "" "" "DNMT3B(NM_006892.3):c.908A>G (p.Y303C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32791695A>G" "" "VUS" "" "0000569366" "0" "50" "20" "31380441" "31380441" "subst" "8.12387E-6" "01804" "DNMT3B_000067" "g.31380441G>A" "" "" "" "DNMT3B(NM_001207055.1):c.805G>A (p.(Val269Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32792635G>A" "" "VUS" "" "0000569367" "0" "30" "20" "31380545" "31380545" "subst" "0.000450996" "01943" "DNMT3B_000068" "g.31380545C>T" "" "" "" "DNMT3B(NM_001207055.1):c.909C>T (p.(=)), DNMT3B(NM_006892.3):c.1035C>T (p.I345=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32792739C>T" "" "likely benign" "" "0000569369" "0" "50" "20" "31383232" "31383232" "subst" "0.00053217" "01943" "DNMT3B_000070" "g.31383232C>T" "" "" "" "DNMT3B(NM_006892.3):c.1144C>T (p.R382C), DNMT3B(NM_006892.4):c.1144C>T (p.(Arg382Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32795426C>T" "" "VUS" "" "0000569370" "0" "30" "20" "31383238" "31383238" "subst" "0.00905849" "01804" "DNMT3B_000043" "g.31383238G>A" "" "" "" "DNMT3B(NM_001207055.1):c.964G>A (p.(Ala322Thr)), DNMT3B(NM_006892.3):c.1150G>A (p.A384T), DNMT3B(NM_006892.4):c.1150G>A (p.A384T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32795432G>A" "" "likely benign" "" "0000569371" "0" "50" "20" "31384658" "31384658" "subst" "1.21818E-5" "01943" "DNMT3B_000071" "g.31384658C>T" "" "" "" "DNMT3B(NM_006892.3):c.1360C>T (p.L454F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32796852C>T" "" "VUS" "" "0000569372" "0" "50" "20" "31386367" "31386367" "subst" "4.88763E-5" "01943" "DNMT3B_000072" "g.31386367G>A" "" "" "" "DNMT3B(NM_006892.3):c.1592G>A (p.R531H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32798561G>A" "" "VUS" "" "0000569373" "0" "30" "20" "31387951" "31387951" "subst" "0.00466975" "01804" "DNMT3B_000073" "g.31387951C>G" "" "" "" "DNMT3B(NM_001207055.1):c.1574-8C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32800145C>G" "" "likely benign" "" "0000569374" "0" "10" "20" "31387951" "31387951" "subst" "0.0051489" "02326" "DNMT3B_000052" "g.31387951C>T" "" "" "" "DNMT3B(NM_001207055.1):c.1574-8C>T (p.(=)), DNMT3B(NM_006892.3):c.1760-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32800145C>T" "" "benign" "" "0000569375" "0" "30" "20" "31388737" "31388737" "subst" "0.00466193" "01804" "DNMT3B_000074" "g.31388737C>T" "" "" "" "DNMT3B(NM_001207055.1):c.1810+6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32800931C>T" "" "likely benign" "" "0000569376" "0" "30" "20" "31389229" "31389229" "subst" "0.000418325" "01943" "DNMT3B_000075" "g.31389229G>A" "" "" "" "DNMT3B(NM_006892.3):c.2142G>A (p.L714=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32801423G>A" "" "likely benign" "" "0000569377" "0" "90" "20" "31394061" "31394062" "del" "4.06081E-6" "02327" "DNMT3B_000076" "g.31394061_31394062del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32806255_32806256del" "" "pathogenic" "" "0000618034" "0" "50" "20" "31374380" "31374380" "subst" "9.76284E-5" "01943" "DNMT3B_000077" "g.31374380C>T" "" "" "" "DNMT3B(NM_006892.3):c.379C>T (p.R127W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32786574C>T" "" "VUS" "" "0000618035" "0" "30" "20" "31383307" "31383307" "subst" "0.000304561" "01943" "DNMT3B_000079" "g.31383307G>A" "" "" "" "DNMT3B(NM_001207055.1):c.1033G>A (p.(Gly345Ser)), DNMT3B(NM_006892.3):c.1219G>A (p.G407S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32795501G>A" "" "likely benign" "" "0000618036" "0" "30" "20" "31387951" "31387951" "subst" "0.0051489" "01804" "DNMT3B_000052" "g.31387951C>T" "" "" "" "DNMT3B(NM_001207055.1):c.1574-8C>T (p.(=)), DNMT3B(NM_006892.3):c.1760-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32800145C>T" "" "likely benign" "" "0000618037" "0" "30" "20" "31388740" "31388740" "subst" "0.00120614" "01943" "DNMT3B_000082" "g.31388740C>T" "" "" "" "DNMT3B(NM_001207055.1):c.1810+9C>T (p.(=)), DNMT3B(NM_006892.3):c.1996+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32800934C>T" "" "likely benign" "" "0000624139" "0" "30" "20" "31380437" "31380437" "subst" "4.0624E-6" "01943" "DNMT3B_000078" "g.31380437T>C" "" "" "" "DNMT3B(NM_006892.3):c.927T>C (p.A309=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32792631T>C" "" "likely benign" "" "0000624140" "0" "30" "20" "31385114" "31385114" "subst" "4.91686E-5" "01943" "DNMT3B_000080" "g.31385114T>C" "" "" "" "DNMT3B(NM_006892.3):c.1490+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32797308T>C" "" "likely benign" "" "0000624141" "0" "30" "20" "31388727" "31388727" "subst" "2.43647E-5" "01943" "DNMT3B_000081" "g.31388727G>A" "" "" "" "DNMT3B(NM_006892.3):c.1992G>A (p.L664=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32800921G>A" "" "likely benign" "" "0000624142" "0" "30" "20" "31389229" "31389229" "subst" "0.000418325" "02326" "DNMT3B_000075" "g.31389229G>A" "" "" "" "DNMT3B(NM_006892.3):c.2142G>A (p.L714=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32801423G>A" "" "likely benign" "" "0000650765" "1" "50" "20" "31383232" "31383232" "subst" "0.00053217" "03575" "DNMT3B_000070" "g.31383232C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs35846833}" "Germline" "" "rs35846833" "0" "" "" "g.32795426C>T" "" "VUS" "" "0000650766" "1" "10" "20" "31383238" "31383238" "subst" "0.00905849" "03575" "DNMT3B_000043" "g.31383238G>A" "10/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "10 heterozygous, no homozygous; {DB:CLININrs150682895}" "Germline" "" "rs150682895" "0" "" "" "g.32795432G>A" "" "benign" "" "0000658741" "0" "30" "20" "31374390" "31374390" "subst" "6.10376E-5" "01943" "DNMT3B_000083" "g.31374390G>A" "" "" "" "DNMT3B(NM_006892.3):c.389G>A (p.R130H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32786584G>A" "" "likely benign" "" "0000681582" "0" "30" "20" "31369175" "31369175" "subst" "0.000109638" "01943" "DNMT3B_000084" "g.31369175G>A" "" "" "" "DNMT3B(NM_006892.3):c.159G>A (p.S53=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692957" "0" "50" "20" "31380459" "31380459" "subst" "0" "01943" "DNMT3B_000085" "g.31380459T>A" "" "" "" "DNMT3B(NM_006892.3):c.949T>A (p.F317I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692958" "0" "30" "20" "31388630" "31388630" "subst" "0.000105575" "02326" "DNMT3B_000086" "g.31388630C>G" "" "" "" "DNMT3B(NM_006892.3):c.1906-11C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727641" "0" "30" "20" "31374412" "31374412" "subst" "0.000130298" "01943" "DNMT3B_000087" "g.31374412C>T" "" "" "" "DNMT3B(NM_006892.3):c.411C>T (p.P137=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727642" "0" "50" "20" "31381362" "31381362" "subst" "3.28197E-5" "01943" "DNMT3B_000088" "g.31381362C>T" "" "" "" "DNMT3B(NM_006892.3):c.1087C>T (p.R363C), DNMT3B(NM_006892.4):c.1087C>T (p.R363C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727643" "0" "50" "20" "31381362" "31381362" "subst" "3.28197E-5" "02325" "DNMT3B_000088" "g.31381362C>T" "" "" "" "DNMT3B(NM_006892.3):c.1087C>T (p.R363C), DNMT3B(NM_006892.4):c.1087C>T (p.R363C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727644" "0" "30" "20" "31389142" "31389142" "subst" "0.000942078" "01943" "DNMT3B_000089" "g.31389142G>A" "" "" "" "DNMT3B(NM_006892.3):c.2055G>A (p.K685=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727645" "0" "30" "20" "31390281" "31390281" "subst" "8.12117E-6" "02325" "DNMT3B_000090" "g.31390281C>T" "" "" "" "DNMT3B(NM_006892.4):c.2231+5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000734503" "0" "70" "20" "31375195" "31375195" "subst" "7.31149E-5" "04011" "DNMT3B_000091" "g.31375195G>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000809199" "0" "30" "20" "31368171" "31368171" "subst" "0.000556929" "01943" "DNMT3B_000092" "g.31368171C>T" "" "" "" "DNMT3B(NM_006892.3):c.42C>T (p.A14=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809200" "0" "30" "20" "31386284" "31386284" "subst" "8.96437E-5" "01943" "DNMT3B_000093" "g.31386284C>T" "" "" "" "DNMT3B(NM_006892.3):c.1509C>T (p.C503=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809201" "0" "30" "20" "31386313" "31386313" "subst" "0.000227946" "01804" "DNMT3B_000049" "g.31386313C>T" "" "" "" "DNMT3B(NM_001207055.1):c.1352C>T (p.(Ala451Val)), DNMT3B(NM_006892.3):c.1538C>T (p.A513V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855789" "0" "50" "20" "31372648" "31372648" "subst" "1.62551E-5" "01943" "DNMT3B_000063" "g.31372648C>T" "" "" "" "DNMT3B(NM_006892.3):c.289C>T (p.R97C, p.(Arg97Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855790" "0" "50" "20" "31384628" "31384628" "subst" "3.65548E-5" "01943" "DNMT3B_000099" "g.31384628G>A" "" "" "" "DNMT3B(NM_006892.3):c.1330G>A (p.V444M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855791" "0" "30" "20" "31395592" "31395592" "subst" "0.000276396" "02326" "DNMT3B_000102" "g.31395592C>T" "" "" "" "DNMT3B(NM_006892.3):c.2445C>T (p.Y815=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866410" "0" "30" "20" "31368253" "31368253" "subst" "0" "01943" "DNMT3B_000094" "g.31368253C>G" "" "" "" "DNMT3B(NM_006892.3):c.124C>G (p.R42G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866411" "0" "30" "20" "31368275" "31368275" "subst" "8.28418E-5" "01943" "DNMT3B_000095" "g.31368275G>T" "" "" "" "DNMT3B(NM_006892.3):c.142+4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866412" "0" "30" "20" "31374337" "31374337" "subst" "0.000931114" "01943" "DNMT3B_000096" "g.31374337C>T" "" "" "" "DNMT3B(NM_006892.3):c.336C>T (p.S112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866413" "0" "50" "20" "31374350" "31374350" "subst" "0.000500232" "01943" "DNMT3B_000097" "g.31374350C>T" "" "" "" "DNMT3B(NM_006892.3):c.349C>T (p.H117Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866414" "0" "30" "20" "31383306" "31383306" "subst" "0.000117764" "01943" "DNMT3B_000098" "g.31383306C>T" "" "" "" "DNMT3B(NM_006892.3):c.1218C>T (p.N406=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866415" "0" "30" "20" "31389142" "31389142" "subst" "0.000942078" "02326" "DNMT3B_000089" "g.31389142G>A" "" "" "" "DNMT3B(NM_006892.3):c.2055G>A (p.K685=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866416" "0" "30" "20" "31393220" "31393220" "subst" "6.09236E-5" "01943" "DNMT3B_000100" "g.31393220C>T" "" "" "" "DNMT3B(NM_006892.3):c.2301+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866417" "0" "30" "20" "31394053" "31394053" "subst" "2.84257E-5" "01943" "DNMT3B_000101" "g.31394053G>A" "" "" "" "DNMT3B(NM_006892.3):c.2340G>A (p.S780=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895263" "0" "30" "20" "31372585" "31372585" "subst" "8.12321E-6" "02326" "DNMT3B_000103" "g.31372585G>A" "" "" "" "DNMT3B(NM_006892.3):c.226G>A (p.G76R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895264" "0" "30" "20" "31374332" "31374332" "subst" "1.62627E-5" "01804" "DNMT3B_000104" "g.31374332G>A" "" "" "" "DNMT3B(NM_006892.3):c.331G>A (p.(Val111Ile), p.V111I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895265" "0" "30" "20" "31374332" "31374332" "subst" "1.62627E-5" "02326" "DNMT3B_000104" "g.31374332G>A" "" "" "" "DNMT3B(NM_006892.3):c.331G>A (p.(Val111Ile), p.V111I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895266" "0" "30" "20" "31375274" "31375274" "subst" "0" "02326" "DNMT3B_000105" "g.31375274C>T" "" "" "" "DNMT3B(NM_006892.3):c.654+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895267" "0" "30" "20" "31376656" "31376656" "subst" "0" "02326" "DNMT3B_000106" "g.31376656C>G" "" "" "" "DNMT3B(NM_006892.3):c.655-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895268" "0" "30" "20" "31380568" "31380568" "subst" "1.21922E-5" "02326" "DNMT3B_000107" "g.31380568C>T" "" "" "" "DNMT3B(NM_006892.3):c.1058C>T (p.T353M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895269" "0" "30" "20" "31388740" "31388740" "subst" "0.00120614" "02326" "DNMT3B_000082" "g.31388740C>T" "" "" "" "DNMT3B(NM_001207055.1):c.1810+9C>T (p.(=)), DNMT3B(NM_006892.3):c.1996+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915358" "0" "30" "20" "31381416" "31381416" "subst" "0.000410277" "02326" "DNMT3B_000108" "g.31381416T>C" "" "" "" "DNMT3B(NM_006892.3):c.1126+15T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926985" "0" "30" "20" "31380545" "31380545" "subst" "0.000450996" "01804" "DNMT3B_000068" "g.31380545C>T" "" "" "" "DNMT3B(NM_001207055.1):c.909C>T (p.(=)), DNMT3B(NM_006892.3):c.1035C>T (p.I345=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926986" "0" "30" "20" "31386332" "31386332" "subst" "0.00129791" "02326" "DNMT3B_000050" "g.31386332G>A" "" "" "" "DNMT3B(NM_006892.3):c.1557G>A (p.Q519=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931157" "0" "50" "20" "31368202" "31368202" "subst" "0.000781625" "02326" "DNMT3B_000034" "g.31368202G>A" "" "" "" "DNMT3B(NM_001207055.1):c.73G>A (p.(Gly25Arg)), DNMT3B(NM_006892.3):c.73G>A (p.G25R), DNMT3B(NM_006892.4):c.73G>A (p.G25R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931159" "0" "30" "20" "31379461" "31379461" "subst" "0" "02326" "DNMT3B_000109" "g.31379461G>T" "" "" "" "DNMT3B(NM_006892.3):c.868G>T (p.A290S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931160" "0" "30" "20" "31381416" "31381416" "subst" "0.000410277" "01804" "DNMT3B_000108" "g.31381416T>C" "" "" "" "DNMT3B(NM_006892.3):c.1126+15T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951418" "0" "50" "20" "31368202" "31368202" "subst" "0.000781625" "01804" "DNMT3B_000034" "g.31368202G>A" "" "" "" "DNMT3B(NM_001207055.1):c.73G>A (p.(Gly25Arg)), DNMT3B(NM_006892.3):c.73G>A (p.G25R), DNMT3B(NM_006892.4):c.73G>A (p.G25R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000970114" "0" "50" "20" "31383307" "31383307" "subst" "0.000304561" "01804" "DNMT3B_000079" "g.31383307G>A" "" "" "" "DNMT3B(NM_001207055.1):c.1033G>A (p.(Gly345Ser)), DNMT3B(NM_006892.3):c.1219G>A (p.G407S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000970115" "0" "30" "20" "31387041" "31387041" "subst" "4.63248E-5" "01804" "DNMT3B_000110" "g.31387041A>T" "" "" "" "DNMT3B(NM_001207055.1):c.1489-9A>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970116" "0" "10" "20" "31388080" "31388080" "subst" "0.0158158" "01804" "DNMT3B_000111" "g.31388080C>T" "" "" "" "DNMT3B(NM_001207055.1):c.1695C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000970117" "0" "30" "20" "31388740" "31388740" "subst" "0.00120614" "01804" "DNMT3B_000082" "g.31388740C>T" "" "" "" "DNMT3B(NM_001207055.1):c.1810+9C>T (p.(=)), DNMT3B(NM_006892.3):c.1996+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983765" "0" "50" "20" "31368244" "31368244" "subst" "0.000102145" "01804" "DNMT3B_000112" "g.31368244G>C" "" "" "" "DNMT3B(NM_006892.4):c.115G>C (p.(Glu39Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983766" "0" "50" "20" "31375211" "31375211" "subst" "0.000483571" "01804" "DNMT3B_000113" "g.31375211C>T" "" "" "" "DNMT3B(NM_001207055.1):c.482C>T (p.(Pro161Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983767" "0" "50" "20" "31393221" "31393221" "del" "0" "01804" "DNMT3B_000114" "g.31393221del" "" "" "" "DNMT3B(NM_006892.4):c.2301+8del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005333" "0" "50" "20" "31368139" "31368139" "subst" "2.03252E-5" "01804" "DNMT3B_000115" "g.31368139G>C" "" "" "" "DNMT3B(NM_006892.3):c.10G>C (p.(Asp4His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005334" "0" "30" "20" "31368191" "31368191" "subst" "1.62721E-5" "01804" "DNMT3B_000116" "g.31368191T>C" "" "" "" "DNMT3B(NM_006892.3):c.62T>C (p.(Ile21Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027307" "0" "50" "20" "31380424" "31380424" "subst" "0.000637869" "01804" "DNMT3B_000117" "g.31380424C>T" "" "" "" "DNMT3B(NM_006892.3):c.922-8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043305" "0" "50" "20" "31375045" "31375045" "subst" "1.22188E-5" "01804" "DNMT3B_000118" "g.31375045C>T" "" "" "" "DNMT3B(NM_006892.4):c.442C>T (p.(Arg148Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043306" "0" "50" "20" "31383232" "31383232" "subst" "0.00053217" "01804" "DNMT3B_000070" "g.31383232C>T" "" "" "" "DNMT3B(NM_006892.3):c.1144C>T (p.R382C), DNMT3B(NM_006892.4):c.1144C>T (p.(Arg382Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043307" "0" "50" "20" "31386366" "31386366" "subst" "0.000118083" "01804" "DNMT3B_000119" "g.31386366C>T" "" "" "" "DNMT3B(NM_006892.3):c.1591C>T (p.(Arg531Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046771" "0" "30" "20" "31376689" "31376689" "subst" "3.65467E-5" "01804" "DNMT3B_000120" "g.31376689C>T" "" "" "" "DNMT3B(NM_001207055.1):c.558C>T (p.(Leu186=))" "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 DNMT3B ## Count = 154 "{{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}}" "0000000895" "00000188" "30" "3389" "0" "3389" "0" "c.*827A>G" "r.(=)" "p.(=)" "23" "0000066718" "00000188" "90" "2177" "0" "2177" "0" "c.2177T>G" "r.2177u>g" "p.Val726Gly" "20" "0000066719" "00000188" "90" "2421" "-11" "2421" "-11" "c.2421-11G>A" "r.2420_2421ins2421-9_2421-1" "p.Arg2407_Ile2408insSerThrPro" "22i" "0000066720" "00000188" "90" "1807" "0" "1807" "0" "c.1807G>A" "r.1807g>a" "p.Ala603Thr" "17" "0000066721" "00000188" "30" "1572" "0" "1572" "0" "c.1572T>C" "r.1572u>c" "p.=" "15" "0000066722" "00000188" "90" "2450" "0" "2450" "0" "c.2450A>G" "r.(?)" "p.(Asp817Gly)" "23" "0000066723" "00000188" "90" "2452" "0" "2452" "0" "c.2452G>A" "r.(?)" "p.(Val818Met)" "23" "0000066724" "00000188" "90" "1991" "0" "1991" "0" "c.1991T>C" "r.(?)" "p.(Leu664Pro)" "18" "0000066725" "00000188" "90" "1987" "0" "1987" "0" "c.1987G>A" "r.(?)" "p.(Gly663Ser)" "18" "0000066726" "00000188" "30" "2301" "139" "2301" "139" "c.2301+139A>G" "r.(=)" "p.(=)" "21i" "0000066727" "00000188" "90" "160" "0" "160" "0" "c.160C>T" "r.(?)" "p.Arg54*)" "3" "0000066728" "00000188" "90" "1754" "0" "1754" "0" "c.1754C>T" "r.(?)" "p.(Ala585Val)" "16" "0000066729" "00000188" "90" "2441" "0" "2441" "0" "c.2441A>G" "r.(?)" "p.(His814Arg)" "23" "0000066730" "00000188" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "1_23" "0000066731" "00000188" "90" "610" "0" "610" "0" "c.610C>T" "r.(?)" "p.(Gln204*)" "6" "0000066732" "00000188" "90" "2467" "0" "2467" "0" "c.2467C>G" "r.(?)" "p.(Arg823Gly)" "23" "0000066733" "00000188" "90" "2519" "0" "2519" "0" "c.2519G>A" "r.2519g>a" "p.Arg840Gln" "23" "0000066734" "00000188" "90" "808" "0" "808" "0" "c.808T>C" "r.808t>c" "p.Ser270Pro" "7" "0000066735" "00000188" "90" "88" "0" "88" "0" "c.88C>T" "r.88c>u" "p.Gln30*" "2" "0000066736" "00000188" "90" "2506" "0" "2506" "0" "c.2506G>A" "r.(2506g>a)" "p.(Val836Met)" "23" "0000066743" "00000188" "90" "2421" "-11" "2421" "-11" "c.2421-11G>A" "r.2420_2421ins2421-9_2421-1" "p.Arg2407_Ile2408insSerThrPro" "22i" "0000066744" "00000188" "30" "1674" "0" "1674" "0" "c.1674T>C" "r.1574u>c" "p.=" "15" "0000066745" "00000188" "30" "2301" "139" "2301" "139" "c.2301+139A>G" "r.=" "p.=" "21i" "0000066746" "00000188" "90" "2177" "0" "2177" "0" "c.2177T>G" "r.(?)" "p.(Val726Gly)" "20" "0000066747" "00000188" "90" "0" "0" "0" "0" "c.?" "r.2232_2420del" "p.Pro745_Arg807del" "21i_22i" "0000066748" "00000188" "90" "122" "0" "123" "0" "c.122_123insA" "r.(?)" "p.(fs*)" "2" "0000066749" "00000188" "30" "2421" "-91" "2421" "-91" "c.2421-91G>A" "r.(=)" "p.(=)" "22i" "0000066750" "00000188" "30" "2302" "-2121" "2302" "-2121" "c.2302-2121T>C" "r.(=)" "p.(=)" "20i" "0000066751" "00000188" "90" "2096" "0" "2096" "0" "c.2096T>G" "r.(?)" "p.(Val699Gly)" "19" "0000066752" "00000188" "90" "2452" "0" "2452" "0" "c.2452G>A" "r.(?)" "p.(Val818Met)" "23" "0000066753" "00000188" "90" "2296" "0" "2296" "0" "c.2296G>C" "r.(?)" "p.(Ala766Pro)" "21" "0000066754" "00000188" "90" "1817" "0" "1817" "0" "c.1817T>C" "r.(?)" "p.(Val606Ala)" "17" "0000090020" "00000188" "50" "2072" "0" "2072" "0" "c.2072C>T" "r.(?)" "p.(Pro691Leu)" "20" "0000090021" "00000188" "50" "2072" "0" "2072" "0" "c.2072C>T" "r.(?)" "p.(Pro691Leu)" "20" "0000090047" "00000188" "50" "1579" "0" "1579" "0" "c.1579T>C" "r.(?)" "p.(Cys527Arg)" "15" "0000090048" "00000188" "50" "1579" "0" "1579" "0" "c.1579T>C" "r.(?)" "p.(Cys527Arg)" "15" "0000090049" "00000188" "50" "1579" "0" "1579" "0" "c.1579T>C" "r.(?)" "p.(Cys527Arg)" "15" "0000162954" "00000188" "90" "2003" "0" "2003" "0" "c.2003C>T" "r.(?)" "p.(Thr668Ile)" "19" "0000162955" "00000188" "90" "1750" "0" "1750" "0" "c.1750A>G" "r.(?)" "p.(Ile584Val)" "16" "0000162956" "00000188" "90" "2468" "0" "2468" "0" "c.2468G>C" "r.(?)" "p.(Arg823Pro)" "23" "0000162957" "00000188" "90" "1750" "0" "1750" "0" "c.1750A>G" "r.(?)" "p.(Ile584Val)" "16" "0000162958" "00000188" "90" "2468" "0" "2468" "0" "c.2468G>C" "r.(?)" "p.(Arg823Pro)" "23" "0000162959" "00000188" "90" "2009" "0" "2009" "0" "c.2009G>A" "r.(?)" "p.(Arg670Gln)" "19" "0000162960" "00000188" "90" "2009" "0" "2009" "0" "c.2009G>A" "r.(?)" "p.(Arg670Gln)" "19" "0000162961" "00000188" "90" "2009" "0" "2009" "0" "c.2009G>A" "r.(?)" "p.(Arg670Gln)" "19" "0000162962" "00000188" "90" "1973" "0" "1973" "0" "c.1973A>G" "r.(?)" "p.(Asn658Ser)" "18" "0000162963" "00000188" "90" "2221" "0" "2221" "0" "c.2221G>A" "r.(?)" "p.(Gly741Arg)" "20" "0000249810" "00000188" "50" "193" "0" "193" "0" "c.193A>G" "r.(?)" "p.(Ser65Gly)" "" "0000251940" "00000188" "30" "71" "0" "71" "0" "c.71A>C" "r.(?)" "p.(Asn24Thr)" "" "0000267480" "00000188" "30" "1150" "0" "1150" "0" "c.1150G>A" "r.(?)" "p.(Ala384Thr)" "" "0000267481" "00000188" "10" "1252" "13" "1252" "13" "c.1252+13T>G" "r.(=)" "p.(=)" "" "0000267482" "00000188" "10" "1572" "0" "1572" "0" "c.1572T>C" "r.(?)" "p.(Cys524=)" "" "0000267483" "00000188" "10" "1674" "0" "1674" "0" "c.1674T>C" "r.(?)" "p.(Tyr558=)" "" "0000267484" "00000188" "10" "1760" "-5" "1760" "-5" "c.1760-5C>G" "r.spl?" "p.?" "" "0000267485" "00000188" "10" "1906" "-5" "1906" "-5" "c.1906-5T>C" "r.spl?" "p.?" "" "0000267486" "00000188" "50" "886" "0" "886" "0" "c.886G>A" "r.(?)" "p.(Val296Ile)" "" "0000270835" "00000188" "10" "1150" "0" "1150" "0" "c.1150G>A" "r.(?)" "p.(Ala384Thr)" "" "0000270836" "00000188" "30" "1349" "0" "1349" "0" "c.1349T>C" "r.(?)" "p.(Phe450Ser)" "" "0000270837" "00000188" "50" "1375" "0" "1375" "0" "c.1375C>T" "r.(?)" "p.(Arg459Trp)" "" "0000270838" "00000188" "50" "1721" "0" "1721" "0" "c.1721C>G" "r.(?)" "p.(Pro574Arg)" "" "0000270839" "00000188" "90" "2177" "0" "2177" "0" "c.2177T>G" "r.(?)" "p.(Val726Gly)" "" "0000270840" "00000188" "90" "2232" "-11" "2232" "-11" "c.2232-11G>A" "r.(=)" "p.(=)" "" "0000275447" "00000188" "30" "1359" "0" "1359" "0" "c.1359G>C" "r.(?)" "p.(Gly453=)" "" "0000275448" "00000188" "30" "1538" "0" "1538" "0" "c.1538C>T" "r.(?)" "p.(Ala513Val)" "" "0000275449" "00000188" "10" "1557" "0" "1557" "0" "c.1557G>A" "r.(?)" "p.(Gln519=)" "" "0000275450" "00000188" "30" "1760" "-8" "1760" "-8" "c.1760-8C>T" "r.(=)" "p.(=)" "" "0000275451" "00000188" "30" "2019" "0" "2019" "0" "c.2019C>T" "r.(?)" "p.(Phe673=)" "" "0000275452" "00000188" "30" "576" "0" "576" "0" "c.576C>T" "r.(?)" "p.(Ala192=)" "" "0000275453" "00000188" "50" "73" "0" "73" "0" "c.73G>A" "r.(?)" "p.(Gly25Arg)" "" "0000328346" "00000188" "50" "223" "0" "223" "0" "c.223G>A" "r.(?)" "p.(Asp75Asn)" "" "0000328348" "00000188" "50" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Arg122His)" "" "0000328349" "00000188" "50" "757" "0" "757" "0" "c.757C>G" "r.(?)" "p.(Gln253Glu)" "" "0000328351" "00000188" "10" "1211" "0" "1211" "0" "c.1211A>G" "r.(?)" "p.(Tyr404Cys)" "" "0000328352" "00000188" "30" "1857" "0" "1857" "0" "c.1857G>T" "r.(?)" "p.(Glu619Asp)" "" "0000348049" "00000188" "50" "1337" "0" "1337" "0" "c.1337T>C" "r.(?)" "p.(Phe446Ser)" "" "0000569357" "00000188" "30" "67" "0" "67" "0" "c.67G>A" "r.(?)" "p.(Val23Ile)" "" "0000569358" "00000188" "50" "73" "0" "73" "0" "c.73G>A" "r.(?)" "p.(Gly25Arg)" "" "0000569359" "00000188" "30" "124" "0" "124" "0" "c.124C>T" "r.(?)" "p.(Arg42Cys)" "" "0000569360" "00000188" "30" "158" "0" "158" "0" "c.158C>T" "r.(?)" "p.(Ser53Leu)" "" "0000569362" "00000188" "50" "289" "0" "289" "0" "c.289C>T" "r.(?)" "p.(Arg97Cys)" "" "0000569365" "00000188" "50" "908" "0" "908" "0" "c.908A>G" "r.(?)" "p.(Tyr303Cys)" "" "0000569366" "00000188" "50" "931" "0" "931" "0" "c.931G>A" "r.(?)" "p.(Val311Met)" "" "0000569367" "00000188" "30" "1035" "0" "1035" "0" "c.1035C>T" "r.(?)" "p.(Ile345=)" "" "0000569369" "00000188" "50" "1144" "0" "1144" "0" "c.1144C>T" "r.(?)" "p.(Arg382Cys)" "" "0000569370" "00000188" "30" "1150" "0" "1150" "0" "c.1150G>A" "r.(?)" "p.(Ala384Thr)" "" "0000569371" "00000188" "50" "1360" "0" "1360" "0" "c.1360C>T" "r.(?)" "p.(Leu454Phe)" "" "0000569372" "00000188" "50" "1592" "0" "1592" "0" "c.1592G>A" "r.(?)" "p.(Arg531His)" "" "0000569373" "00000188" "30" "1760" "-8" "1760" "-8" "c.1760-8C>G" "r.(=)" "p.(=)" "" "0000569374" "00000188" "10" "1760" "-8" "1760" "-8" "c.1760-8C>T" "r.(=)" "p.(=)" "" "0000569375" "00000188" "30" "1996" "6" "1996" "6" "c.1996+6C>T" "r.(=)" "p.(=)" "" "0000569376" "00000188" "30" "2142" "0" "2142" "0" "c.2142G>A" "r.(?)" "p.(Leu714=)" "" "0000569377" "00000188" "90" "2348" "0" "2349" "0" "c.2348_2349del" "r.(?)" "p.(Gln783ArgfsTer21)" "" "0000618034" "00000188" "50" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Arg127Trp)" "" "0000618035" "00000188" "30" "1219" "0" "1219" "0" "c.1219G>A" "r.(?)" "p.(Gly407Ser)" "" "0000618036" "00000188" "30" "1760" "-8" "1760" "-8" "c.1760-8C>T" "r.(=)" "p.(=)" "" "0000618037" "00000188" "30" "1996" "9" "1996" "9" "c.1996+9C>T" "r.(=)" "p.(=)" "" "0000624139" "00000188" "30" "927" "0" "927" "0" "c.927T>C" "r.(?)" "p.(Ala309=)" "" "0000624140" "00000188" "30" "1490" "9" "1490" "9" "c.1490+9T>C" "r.(=)" "p.(=)" "" "0000624141" "00000188" "30" "1992" "0" "1992" "0" "c.1992G>A" "r.(?)" "p.(Leu664=)" "" "0000624142" "00000188" "30" "2142" "0" "2142" "0" "c.2142G>A" "r.(?)" "p.(Leu714=)" "" "0000650765" "00000188" "50" "1144" "0" "1144" "0" "c.1144C>T" "r.(?)" "p.(Arg382Cys)" "" "0000650766" "00000188" "10" "1150" "0" "1150" "0" "c.1150G>A" "r.(?)" "p.(Ala384Thr)" "" "0000658741" "00000188" "30" "389" "0" "389" "0" "c.389G>A" "r.(?)" "p.(Arg130His)" "" "0000681582" "00000188" "30" "159" "0" "159" "0" "c.159G>A" "r.(?)" "p.(Ser53=)" "" "0000692957" "00000188" "50" "949" "0" "949" "0" "c.949T>A" "r.(?)" "p.(Phe317Ile)" "" "0000692958" "00000188" "30" "1906" "-11" "1906" "-11" "c.1906-11C>G" "r.(=)" "p.(=)" "" "0000727641" "00000188" "30" "411" "0" "411" "0" "c.411C>T" "r.(?)" "p.(Pro137=)" "" "0000727642" "00000188" "50" "1087" "0" "1087" "0" "c.1087C>T" "r.(?)" "p.(Arg363Cys)" "" "0000727643" "00000188" "50" "1087" "0" "1087" "0" "c.1087C>T" "r.(?)" "p.(Arg363Cys)" "" "0000727644" "00000188" "30" "2055" "0" "2055" "0" "c.2055G>A" "r.(?)" "p.(Lys685=)" "" "0000727645" "00000188" "30" "2231" "5" "2231" "5" "c.2231+5C>T" "r.spl?" "p.?" "" "0000734503" "00000188" "50" "592" "0" "592" "0" "c.592G>T" "r.(?)" "p.(Gly198Trp)" "" "0000809199" "00000188" "30" "42" "0" "42" "0" "c.42C>T" "r.(?)" "p.(Ala14=)" "" "0000809200" "00000188" "30" "1509" "0" "1509" "0" "c.1509C>T" "r.(?)" "p.(Cys503=)" "" "0000809201" "00000188" "30" "1538" "0" "1538" "0" "c.1538C>T" "r.(?)" "p.(Ala513Val)" "" "0000855789" "00000188" "50" "289" "0" "289" "0" "c.289C>T" "r.(?)" "p.(Arg97Cys)" "" "0000855790" "00000188" "50" "1330" "0" "1330" "0" "c.1330G>A" "r.(?)" "p.(Val444Met)" "" "0000855791" "00000188" "30" "2445" "0" "2445" "0" "c.2445C>T" "r.(?)" "p.(Tyr815=)" "" "0000866410" "00000188" "30" "124" "0" "124" "0" "c.124C>G" "r.(?)" "p.(Arg42Gly)" "" "0000866411" "00000188" "30" "142" "4" "142" "4" "c.142+4G>T" "r.spl?" "p.?" "" "0000866412" "00000188" "30" "336" "0" "336" "0" "c.336C>T" "r.(?)" "p.(Ser112=)" "" "0000866413" "00000188" "50" "349" "0" "349" "0" "c.349C>T" "r.(?)" "p.(His117Tyr)" "" "0000866414" "00000188" "30" "1218" "0" "1218" "0" "c.1218C>T" "r.(?)" "p.(Asn406=)" "" "0000866415" "00000188" "30" "2055" "0" "2055" "0" "c.2055G>A" "r.(?)" "p.(Lys685=)" "" "0000866416" "00000188" "30" "2301" "7" "2301" "7" "c.2301+7C>T" "r.(=)" "p.(=)" "" "0000866417" "00000188" "30" "2340" "0" "2340" "0" "c.2340G>A" "r.(?)" "p.(Ser780=)" "" "0000895263" "00000188" "30" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Gly76Arg)" "" "0000895264" "00000188" "30" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Val111Ile)" "" "0000895265" "00000188" "30" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Val111Ile)" "" "0000895266" "00000188" "30" "654" "17" "654" "17" "c.654+17C>T" "r.(=)" "p.(=)" "" "0000895267" "00000188" "30" "655" "-4" "655" "-4" "c.655-4C>G" "r.spl?" "p.?" "" "0000895268" "00000188" "30" "1058" "0" "1058" "0" "c.1058C>T" "r.(?)" "p.(Thr353Met)" "" "0000895269" "00000188" "30" "1996" "9" "1996" "9" "c.1996+9C>T" "r.(=)" "p.(=)" "" "0000915358" "00000188" "30" "1126" "15" "1126" "15" "c.1126+15T>C" "r.(=)" "p.(=)" "" "0000926985" "00000188" "30" "1035" "0" "1035" "0" "c.1035C>T" "r.(?)" "p.(Ile345=)" "" "0000926986" "00000188" "30" "1557" "0" "1557" "0" "c.1557G>A" "r.(?)" "p.(Gln519=)" "" "0000931157" "00000188" "50" "73" "0" "73" "0" "c.73G>A" "r.(?)" "p.(Gly25Arg)" "" "0000931159" "00000188" "30" "868" "0" "868" "0" "c.868G>T" "r.(?)" "p.(Ala290Ser)" "" "0000931160" "00000188" "30" "1126" "15" "1126" "15" "c.1126+15T>C" "r.(=)" "p.(=)" "" "0000951418" "00000188" "50" "73" "0" "73" "0" "c.73G>A" "r.(?)" "p.(Gly25Arg)" "" "0000970114" "00000188" "50" "1219" "0" "1219" "0" "c.1219G>A" "r.(?)" "p.(Gly407Ser)" "" "0000970115" "00000188" "30" "1675" "-9" "1675" "-9" "c.1675-9A>T" "r.(=)" "p.(=)" "" "0000970116" "00000188" "10" "1881" "0" "1881" "0" "c.1881C>T" "r.(?)" "p.(=)" "" "0000970117" "00000188" "30" "1996" "9" "1996" "9" "c.1996+9C>T" "r.(=)" "p.(=)" "" "0000983765" "00000188" "50" "115" "0" "115" "0" "c.115G>C" "r.(?)" "p.(Glu39Gln)" "" "0000983766" "00000188" "50" "608" "0" "608" "0" "c.608C>T" "r.(?)" "p.(Pro203Leu)" "" "0000983767" "00000188" "50" "2301" "8" "2301" "8" "c.2301+8del" "r.(=)" "p.(=)" "" "0001005333" "00000188" "50" "10" "0" "10" "0" "c.10G>C" "r.(?)" "p.(Asp4His)" "" "0001005334" "00000188" "30" "62" "0" "62" "0" "c.62T>C" "r.(?)" "p.(Ile21Thr)" "" "0001027307" "00000188" "50" "922" "-8" "922" "-8" "c.922-8C>T" "r.(=)" "p.(=)" "" "0001043305" "00000188" "50" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Arg148Trp)" "" "0001043306" "00000188" "50" "1144" "0" "1144" "0" "c.1144C>T" "r.(?)" "p.(Arg382Cys)" "" "0001043307" "00000188" "50" "1591" "0" "1591" "0" "c.1591C>T" "r.(?)" "p.(Arg531Cys)" "" "0001046771" "00000188" "30" "684" "0" "684" "0" "c.684C>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 50 "{{screeningid}}" "{{variantid}}" "0000000029" "0000000895" "0000038910" "0000066718" "0000038911" "0000066719" "0000038912" "0000066720" "0000038912" "0000066743" "0000038913" "0000066721" "0000038913" "0000066744" "0000038913" "0000066745" "0000038914" "0000066722" "0000038915" "0000066723" "0000038916" "0000066724" "0000038917" "0000066725" "0000038917" "0000066746" "0000038918" "0000066726" "0000038918" "0000066747" "0000038918" "0000066748" "0000038918" "0000066749" "0000038918" "0000066750" "0000038919" "0000066727" "0000038919" "0000066751" "0000038920" "0000066728" "0000038921" "0000066729" "0000038921" "0000066752" "0000038922" "0000066730" "0000038922" "0000066753" "0000038923" "0000066731" "0000038923" "0000066754" "0000038924" "0000066732" "0000038925" "0000066733" "0000038926" "0000066734" "0000038927" "0000066735" "0000038928" "0000066736" "0000059191" "0000090020" "0000059192" "0000090021" "0000059210" "0000090047" "0000059211" "0000090048" "0000059212" "0000090049" "0000100649" "0000162954" "0000100650" "0000162955" "0000100650" "0000162956" "0000100651" "0000162957" "0000100651" "0000162958" "0000100652" "0000162959" "0000100653" "0000162960" "0000100654" "0000162961" "0000100655" "0000162962" "0000100655" "0000162963" "0000294076" "0000650765" "0000294077" "0000650766" "0000335726" "0000734503"