### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SETD1B) # 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}}" "SETD1B" "SET domain containing 1B" "12" "q24.31" "unknown" "NC_000012.11" "UD_136021179288" "" "https://www.LOVD.nl/SETD1B" "" "1" "29187" "23067" "611055" "1" "1" "1" "1" "Change to MANE transcript.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-11-19 09:19:32" "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}}" "00018747" "SETD1B" "SET domain containing 1B" "001" "NM_015048.1" "" "NP_055863.1" "" "" "" "-6" "8189" "5772" "122242638" "122270562" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05988" "IDDSELD" "intellectual developmental disorder with seizures and language delay (IDDSELD)" "AD" "619000" "" "" "" "00006" "2021-11-19 09:17:25" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SETD1B" "05988" ## Individuals ## Do not remove or alter this header ## ## Count = 16 "{{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}}" "00312001" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00312002" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00312003" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00312004" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00312005" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00312006" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00312007" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00312008" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00312009" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00312010" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00312011" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00312012" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00312013" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00312014" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00326917" "" "" "" "3" "" "00006" "{PMID:Najmabadi 2011:21937992}" "family, 3 affected" "" "yes" "Iran" "" "0" "" "" "" "8401214" "00391754" "" "" "" "1" "" "02494" "" "" "M" "no" "Spain" "" "" "" "" "" "111P" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 16 "{{individualid}}" "{{diseaseid}}" "00312001" "00198" "00312002" "00198" "00312003" "00198" "00312004" "00198" "00312005" "00198" "00312006" "00198" "00312007" "00198" "00312008" "00198" "00312009" "00198" "00312010" "00198" "00312011" "00198" "00312012" "00198" "00312013" "00198" "00312014" "00198" "00326917" "00139" "00391754" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 05988 ## Count = 1 "{{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}}" "0000245380" "00139" "00326917" "00006" "Unknown" "" "mild-moderate intellectual disability, coarse face, short philtrum, obesity and speech problems, coarse face, short philtrum, obesity, speech problems" "" "" "" "" "" "" "" "" "" "intellectual disability" "" ## Screenings ## Do not remove or alter this header ## ## Count = 16 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000313173" "00312001" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313174" "00312002" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313175" "00312003" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313176" "00312004" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313177" "00312005" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313178" "00312006" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313179" "00312007" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313180" "00312008" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313181" "00312009" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313182" "00312010" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313183" "00312011" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313184" "00312012" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313185" "00312013" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313186" "00312014" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000328130" "00326917" "1" "00006" "00006" "2021-01-16 13:42:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000392996" "00391754" "1" "02494" "02494" "2021-11-18 13:54:08" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{geneid}}" "0000313173" "SETD1B" "0000313174" "SETD1B" "0000313175" "SETD1B" "0000313176" "SETD1B" "0000313177" "SETD1B" "0000313178" "SETD1B" "0000313179" "SETD1B" "0000313180" "SETD1B" "0000313181" "SETD1B" "0000313182" "SETD1B" "0000313183" "SETD1B" "0000313184" "SETD1B" "0000313185" "SETD1B" "0000313186" "SETD1B" ## 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 = 196 "{{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}}" "0000323178" "0" "50" "12" "122243749" "122243749" "subst" "0" "01804" "SETD1B_000001" "g.122243749G>C" "" "" "" "SETD1B(NM_015048.1):c.282G>C (p.(Glu94Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121805843G>C" "" "VUS" "" "0000323179" "0" "50" "12" "122260467" "122260467" "subst" "0" "01804" "SETD1B_000002" "g.122260467C>T" "" "" "" "SETD1B(NM_015048.1):c.3853C>T (p.(Pro1285Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121822561C>T" "" "VUS" "" "0000546896" "0" "30" "12" "122242673" "122242673" "subst" "8.12403E-5" "01943" "SETD1B_000004" "g.122242673C>A" "" "" "" "SETD1B(NM_001353345.1):c.30C>A (p.H10Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121804767C>A" "" "likely benign" "" "0000546897" "0" "50" "12" "122243784" "122243784" "subst" "6.72269E-6" "02327" "SETD1B_000005" "g.122243784C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121805878C>T" "" "VUS" "" "0000546899" "0" "50" "12" "122254953" "122254953" "subst" "0" "01943" "SETD1B_000007" "g.122254953G>A" "" "" "" "SETD1B(NM_001353345.1):c.2730G>A (p.P910=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121817047G>A" "" "VUS" "" "0000546901" "0" "30" "12" "122263155" "122263155" "subst" "3.29846E-5" "02325" "SETD1B_000009" "g.122263155C>T" "" "" "" "SETD1B(NM_001353345.2):c.5220C>T (p.R1740=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121825249C>T" "" "likely benign" "" "0000546902" "0" "70" "12" "122263177" "122263177" "subst" "0" "02327" "SETD1B_000010" "g.122263177C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121825271C>T" "" "likely pathogenic" "" "0000613914" "0" "50" "12" "122243752" "122243753" "del" "0" "01943" "SETD1B_000011" "g.122243752_122243753del" "" "" "" "SETD1B(NM_001353345.1):c.285_286delCT (p.F95Lfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121805846_121805847del" "" "VUS" "" "0000613915" "0" "50" "12" "122243829" "122243830" "ins" "0" "01943" "SETD1B_000012" "g.122243829_122243830insTGT" "" "" "" "SETD1B(NM_001353345.1):c.362_363insTGT (p.D121_M122insV)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121805923_121805924insTGT" "" "VUS" "" "0000613916" "0" "50" "12" "122268086" "122268086" "subst" "0" "01943" "SETD1B_000014" "g.122268086G>A" "" "" "" "SETD1B(NM_001353345.1):c.5842G>A (p.E1948K), SETD1B(NM_001353345.2):c.5842G>A (p.(Glu1948Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121830180G>A" "" "VUS" "" "0000622793" "0" "50" "12" "122255778" "122255778" "subst" "0" "02329" "SETD1B_000013" "g.122255778C>T" "" "" "" "SETD1B(NM_001353345.1):c.3386C>T (p.A1129V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121817872C>T" "" "VUS" "" "0000657005" "0" "50" "12" "122252343" "122252343" "subst" "0" "01943" "SETD1B_000015" "g.122252343T>A" "" "" "" "SETD1B(NM_001353345.1):c.2222T>A (p.I741N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121814437T>A" "" "VUS" "" "0000657006" "0" "70" "12" "122265645" "122265645" "subst" "0" "02327" "SETD1B_000016" "g.122265645G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121827739G>C" "" "likely pathogenic" "" "0000657007" "0" "90" "12" "122265951" "122265951" "subst" "0" "02325" "SETD1B_000017" "g.122265951C>A" "" "" "" "SETD1B(NM_001353345.2):c.5702C>A (p.A1901E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121828045C>A" "" "pathogenic" "" "0000679417" "0" "50" "12" "122247738" "122247738" "subst" "6.73183E-6" "01943" "SETD1B_000018" "g.122247738C>T" "" "" "" "SETD1B(NM_001353345.1):c.887C>T (p.P296L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691262" "0" "30" "12" "122247951" "122247951" "subst" "0.003741" "02325" "SETD1B_000019" "g.122247951C>T" "" "" "" "SETD1B(NM_001353345.2):c.1100C>T (p.P367L), SETD1B(NM_015048.1):c.1100C>T (p.(Pro367Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691263" "0" "10" "12" "122255553" "122255558" "del" "0" "02325" "SETD1B_000020" "g.122255553_122255558del" "" "" "" "SETD1B(NM_001353345.2):c.3255_3260delGGAGGA (p.E1086_E1087del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000694907" "11" "10" "12" "122247951" "122247951" "subst" "0.003741" "00006" "SETD1B_000019" "g.122247951C>T" "" "{PMID:Faundes 2018:29276005}" "" "" "possible causative variant identified in ATRX" "Germline" "" "" "0" "" "" "g.121810045C>T" "" "benign" "ACMG" "0000694908" "3" "10" "12" "122247951" "122247951" "subst" "0.003741" "00006" "SETD1B_000019" "g.122247951C>T" "" "{PMID:Faundes 2018:29276005}" "" "" "causative variant identified in CASK" "Germline" "" "" "0" "" "" "g.121810045C>T" "" "benign" "ACMG" "0000694909" "21" "10" "12" "122247951" "122247951" "subst" "0.003741" "00006" "SETD1B_000019" "g.122247951C>T" "" "{PMID:Faundes 2018:29276005}" "" "" "possible causative variant identified in MID1" "Germline" "" "" "0" "" "" "g.121810045C>T" "" "benign" "ACMG" "0000694910" "21" "50" "12" "122248137" "122248137" "subst" "1.45624E-5" "00006" "SETD1B_000021" "g.122248137G>A" "" "{PMID:Faundes 2018:29276005}" "" "" "possible causative variant identified in HNRNPD" "Germline" "" "" "0" "" "" "g.121810231G>A" "" "VUS" "ACMG" "0000694911" "11" "50" "12" "122248329" "122248329" "subst" "0.000464246" "00006" "SETD1B_000022" "g.122248329A>G" "" "{PMID:Faundes 2018:29276005}" "" "" "possible causative variant identified in HNRNPD" "Germline" "" "" "0" "" "" "g.121810423A>G" "" "VUS" "ACMG" "0000694912" "21" "50" "12" "122248505" "122248505" "subst" "0.000444767" "00006" "SETD1B_000023" "g.122248505C>T" "" "{PMID:Faundes 2018:29276005}" "" "" "possible causative variant identified in ATRX" "Germline" "" "" "0" "" "" "g.121810599C>T" "" "VUS" "ACMG" "0000694913" "0" "50" "12" "122252499" "122252499" "subst" "0" "00006" "SETD1B_000024" "g.122252499C>G" "" "{PMID:Faundes 2018:29276005}" "" "" "possible causative variant identified in NOTCH2, COMP" "De novo" "" "" "0" "" "" "g.121814593C>G" "" "VUS" "ACMG" "0000694914" "11" "50" "12" "122252565" "122252565" "subst" "0" "00006" "SETD1B_000025" "g.122252565C>A" "" "{PMID:Faundes 2018:29276005}" "" "" "no possible causative variants identified in other genes" "Germline" "" "" "0" "" "" "g.121814659C>A" "" "VUS" "ACMG" "0000694915" "0" "50" "12" "122255311" "122255311" "dup" "0" "00006" "SETD1B_000026" "g.122255311dup" "" "{PMID:Faundes 2018:29276005}" "" "3012_3013insA" "possible causative variant identified in LAMA1" "De novo" "" "" "0" "" "" "g.121817405dup" "" "VUS" "ACMG" "0000694916" "11" "30" "12" "122257478" "122257478" "subst" "0.00120894" "00006" "SETD1B_000027" "g.122257478T>A" "" "{PMID:Faundes 2018:29276005}" "" "" "possible causative variant identified in MID1" "Germline" "" "" "0" "" "" "g.121819572T>A" "" "likely benign" "ACMG" "0000694917" "21" "50" "12" "122257484" "122257484" "subst" "3.30509E-5" "00006" "SETD1B_000028" "g.122257484A>C" "" "{PMID:Faundes 2018:29276005}" "" "" "no possible causative variants identified in other genes" "Germline" "" "" "0" "" "" "g.121819578A>C" "" "VUS" "ACMG" "0000694918" "11" "30" "12" "122260567" "122260567" "subst" "4.0122E-5" "00006" "SETD1B_000029" "g.122260567C>T" "" "{PMID:Faundes 2018:29276005}" "" "" "possible causative variant identified in EMC1" "Germline" "" "" "0" "" "" "g.121822661C>T" "" "likely benign" "ACMG" "0000694919" "21" "50" "12" "122261163" "122261163" "subst" "0.0021673" "00006" "SETD1B_000030" "g.122261163G>A" "" "{PMID:Faundes 2018:29276005}" "" "" "possible causative variant identified in EMC1" "Germline" "" "" "0" "" "" "g.121823257G>A" "" "VUS" "ACMG" "0000694920" "21" "50" "12" "122261466" "122261466" "subst" "8.6542E-5" "00006" "SETD1B_000031" "g.122261466G>A" "" "{PMID:Faundes 2018:29276005}" "" "" "no possible causative variants identified in other genes" "Germline" "" "" "0" "" "" "g.121823560G>A" "" "VUS" "ACMG" "0000723881" "0" "50" "12" "122248133" "122248133" "subst" "0.000144363" "01943" "SETD1B_000032" "g.122248133T>C" "" "" "" "SETD1B(NM_001353345.1):c.1282T>C (p.F428L), SETD1B(NM_001353345.2):c.1282T>C (p.(Phe428Leu), p.F428L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723882" "0" "50" "12" "122248595" "122248595" "subst" "1.357E-5" "01943" "SETD1B_000033" "g.122248595G>A" "" "" "" "SETD1B(NM_001353345.1):c.1744G>A (p.E582K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723883" "0" "50" "12" "122265953" "122265953" "subst" "0" "02329" "SETD1B_000003" "g.122265953C>T" "" "" "" "SETD1B(NM_001353345.1):c.5704C>T (p.R1902C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805564" "0" "50" "12" "122255372" "122255372" "subst" "0.00085593" "02325" "SETD1B_000034" "g.122255372G>A" "" "" "" "SETD1B(NM_001353345.2):c.3074G>A (p.R1025Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805565" "0" "90" "12" "122265953" "122265953" "subst" "0" "02327" "SETD1B_000003" "g.122265953C>T" "" "" "" "SETD1B(NM_001353345.1):c.5704C>T (p.R1902C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000805566" "0" "70" "12" "122268110" "122268110" "subst" "0" "02325" "SETD1B_000035" "g.122268110T>C" "" "" "" "SETD1B(NM_001353345.2):c.5866T>C (p.C1956R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000823563" "0" "70" "12" "122255324" "122255346" "del" "0" "02494" "SETD1B_000036" "g.122255324_122255346del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.121817418_121817440del" "" "likely pathogenic (dominant)" "" "0000853288" "0" "50" "12" "122261335" "122261335" "subst" "0" "02325" "SETD1B_000037" "g.122261335C>T" "" "" "" "SETD1B(NM_001353345.2):c.4850C>T (p.A1617V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853289" "0" "90" "12" "122265953" "122265953" "subst" "0" "01943" "SETD1B_000003" "g.122265953C>T" "" "" "" "SETD1B(NM_001353345.1):c.5704C>T (p.R1902C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000872205" "3" "50" "12" "122248484" "122248484" "subst" "6.85063E-6" "00006" "SETD1B_000038" "g.122248484C>T" "" "{PMID:Najmabadi 2011:21937992}" "" "chr12:120732867C>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000890338" "0" "30" "12" "122242666" "122242666" "subst" "0.00277934" "02330" "SETD1B_000039" "g.122242666A>C" "" "" "" "SETD1B(NM_001353345.2):c.23A>C (p.H8P), SETD1B(NM_015048.1):c.23A>C (p.(His8Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890339" "0" "30" "12" "122243018" "122243018" "subst" "0.00130585" "02330" "SETD1B_000040" "g.122243018C>T" "" "" "" "SETD1B(NM_001353345.2):c.175-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890340" "0" "30" "12" "122246193" "122246193" "subst" "0.000648044" "02330" "SETD1B_000041" "g.122246193C>T" "" "" "" "SETD1B(NM_001353345.2):c.624C>T (p.D208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890341" "0" "30" "12" "122246240" "122246240" "subst" "0.000834382" "02330" "SETD1B_000042" "g.122246240C>T" "" "" "" "SETD1B(NM_001353345.2):c.657+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890342" "0" "50" "12" "122247743" "122247743" "subst" "0" "02330" "SETD1B_000043" "g.122247743T>A" "" "" "" "SETD1B(NM_001353345.2):c.892T>A (p.Y298N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890343" "0" "30" "12" "122247811" "122247811" "subst" "0" "02330" "SETD1B_000044" "g.122247811C>A" "" "" "" "SETD1B(NM_001353345.2):c.960C>A (p.A320=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890344" "0" "50" "12" "122247821" "122247821" "subst" "0" "02329" "SETD1B_000045" "g.122247821C>T" "" "" "" "SETD1B(NM_001353345.1):c.970C>T (p.R324C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890345" "0" "30" "12" "122247909" "122247909" "subst" "0.000520377" "02330" "SETD1B_000046" "g.122247909C>T" "" "" "" "SETD1B(NM_001353345.2):c.1058C>T (p.P353L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890346" "0" "30" "12" "122247951" "122247951" "subst" "0.003741" "02330" "SETD1B_000019" "g.122247951C>T" "" "" "" "SETD1B(NM_001353345.2):c.1100C>T (p.P367L), SETD1B(NM_015048.1):c.1100C>T (p.(Pro367Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890347" "0" "10" "12" "122248114" "122248114" "subst" "0.00639131" "02330" "SETD1B_000047" "g.122248114G>A" "" "" "" "SETD1B(NM_001353345.2):c.1263G>A (p.G421=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890348" "0" "30" "12" "122248223" "122248223" "subst" "3.66483E-5" "02330" "SETD1B_000048" "g.122248223G>A" "" "" "" "SETD1B(NM_001353345.2):c.1372G>A (p.D458N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890349" "0" "30" "12" "122248505" "122248505" "subst" "0.000444767" "02330" "SETD1B_000023" "g.122248505C>T" "" "" "" "SETD1B(NM_001353345.2):c.1654C>T (p.P552S, p.(Pro552Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890350" "0" "30" "12" "122248505" "122248505" "subst" "0.000444767" "02325" "SETD1B_000023" "g.122248505C>T" "" "" "" "SETD1B(NM_001353345.2):c.1654C>T (p.P552S, p.(Pro552Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890351" "0" "30" "12" "122248600" "122248600" "subst" "4.74165E-5" "02330" "SETD1B_000049" "g.122248600C>T" "" "" "" "SETD1B(NM_001353345.2):c.1749C>T (p.D583=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890352" "0" "10" "12" "122252200" "122252200" "subst" "0" "02330" "SETD1B_000050" "g.122252200A>C" "" "" "" "SETD1B(NM_001353345.2):c.2079A>C (p.P693=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890353" "0" "30" "12" "122252524" "122252524" "subst" "2.86697E-5" "02330" "SETD1B_000051" "g.122252524G>A" "" "" "" "SETD1B(NM_001353345.2):c.2403G>A (p.A801=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890354" "0" "30" "12" "122254983" "122254983" "subst" "0.000256912" "02325" "SETD1B_000052" "g.122254983C>G" "" "" "" "SETD1B(NM_001353345.2):c.2760C>G (p.D920E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890355" "0" "10" "12" "122255040" "122255040" "subst" "0.000735163" "02330" "SETD1B_000053" "g.122255040C>T" "" "" "" "SETD1B(NM_001353345.2):c.2817C>T (p.G939=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890356" "0" "30" "12" "122255445" "122255445" "subst" "0.000286189" "02330" "SETD1B_000054" "g.122255445G>A" "" "" "" "SETD1B(NM_001353345.2):c.3147G>A (p.A1049=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890357" "0" "10" "12" "122257321" "122257321" "subst" "0.000206918" "02330" "SETD1B_000055" "g.122257321A>G" "" "" "" "SETD1B(NM_001353345.2):c.3430A>G (p.S1144G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890358" "0" "30" "12" "122257478" "122257478" "subst" "0.00120894" "02330" "SETD1B_000027" "g.122257478T>A" "" "" "" "SETD1B(NM_001353345.2):c.3587T>A (p.V1196E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890359" "0" "10" "12" "122260486" "122260486" "subst" "0.00160335" "02330" "SETD1B_000056" "g.122260486C>G" "" "" "" "SETD1B(NM_001353345.2):c.4001C>G (p.P1334R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890360" "0" "30" "12" "122261163" "122261163" "subst" "0.0021673" "02330" "SETD1B_000030" "g.122261163G>A" "" "" "" "SETD1B(NM_001353345.2):c.4678G>A (p.V1560I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890361" "0" "30" "12" "122261183" "122261183" "subst" "1.42531E-5" "02330" "SETD1B_000057" "g.122261183C>T" "" "" "" "SETD1B(NM_001353345.2):c.4698C>T (p.D1566=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890362" "0" "30" "12" "122261462" "122261462" "subst" "4.66561E-5" "02330" "SETD1B_000058" "g.122261462G>A" "" "" "" "SETD1B(NM_001353345.2):c.4977G>A (p.S1659=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890363" "0" "30" "12" "122261588" "122261588" "subst" "5.98778E-5" "02330" "SETD1B_000059" "g.122261588C>T" "" "" "" "SETD1B(NM_001353345.2):c.5103C>T (p.Y1701=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890364" "0" "30" "12" "122265414" "122265414" "subst" "8.88507E-5" "02330" "SETD1B_000060" "g.122265414G>C" "" "" "" "SETD1B(NM_001353345.2):c.5338-11G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890365" "0" "30" "12" "122265676" "122265676" "subst" "1.94922E-5" "02330" "SETD1B_000061" "g.122265676C>T" "" "" "" "SETD1B(NM_001353345.2):c.5505C>T (p.H1835=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890366" "0" "50" "12" "122268119" "122268119" "subst" "0" "02325" "SETD1B_000062" "g.122268119G>T" "" "" "" "SETD1B(NM_001353345.2):c.5875G>T (p.E1959*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913777" "0" "30" "12" "122248648" "122248648" "subst" "0.000237304" "02330" "SETD1B_000063" "g.122248648C>T" "" "" "" "SETD1B(NM_001353345.2):c.1797C>T (p.G599=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913778" "0" "70" "12" "122252199" "122252199" "dup" "0" "02329" "SETD1B_000064" "g.122252199dup" "" "" "" "SETD1B(NM_001353345.2):c.2078dupC (p.P694Tfs*148)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000913779" "0" "50" "12" "122255553" "122255558" "dup" "0" "02325" "SETD1B_000065" "g.122255553_122255558dup" "" "" "" "SETD1B(NM_001353345.2):c.3255_3260dupGGAGGA (p.E1086_E1087dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913780" "0" "50" "12" "122257316" "122257316" "subst" "6.68029E-6" "02330" "SETD1B_000066" "g.122257316C>T" "" "" "" "SETD1B(NM_001353345.2):c.3425C>T (p.T1142I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913781" "0" "30" "12" "122268031" "122268031" "subst" "7.9565E-5" "02330" "SETD1B_000067" "g.122268031G>A" "" "" "" "SETD1B(NM_001353345.2):c.5787G>A (p.S1929=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913782" "0" "30" "12" "122268040" "122268040" "subst" "4.63687E-5" "02330" "SETD1B_000068" "g.122268040C>T" "" "" "" "SETD1B(NM_001353345.2):c.5796C>T (p.H1932=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913783" "0" "50" "12" "122268107" "122268107" "subst" "0" "02330" "SETD1B_000069" "g.122268107C>T" "" "" "" "SETD1B(NM_001353345.2):c.5863C>T (p.L1955F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925557" "0" "30" "12" "122243127" "122243127" "subst" "9.4833E-5" "02330" "SETD1B_000070" "g.122243127G>A" "" "" "" "SETD1B(NM_001353345.2):c.273+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925558" "0" "10" "12" "122247874" "122247874" "subst" "0.00038935" "02330" "SETD1B_000071" "g.122247874G>A" "" "" "" "SETD1B(NM_001353345.2):c.1023G>A (p.G341=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000925559" "0" "50" "12" "122248340" "122248340" "subst" "0" "02330" "SETD1B_000072" "g.122248340G>C" "" "" "" "SETD1B(NM_001353345.2):c.1489G>C (p.D497H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925560" "0" "50" "12" "122252681" "122252681" "subst" "0" "02329" "SETD1B_000073" "g.122252681G>A" "" "" "" "SETD1B(NM_001353345.2):c.2560G>A (p.E854K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925561" "0" "30" "12" "122255151" "122255151" "subst" "0.000400799" "02330" "SETD1B_000074" "g.122255151C>T" "" "" "" "SETD1B(NM_001353345.2):c.2928C>T (p.G976=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925562" "0" "30" "12" "122255469" "122255469" "subst" "4.76314E-5" "02330" "SETD1B_000075" "g.122255469C>T" "" "" "" "SETD1B(NM_001353345.2):c.3171C>T (p.T1057=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925563" "0" "30" "12" "122255497" "122255499" "del" "0" "02330" "SETD1B_000076" "g.122255497_122255499del" "" "" "" "SETD1B(NM_001353345.2):c.3199_3201delAAG (p.K1067del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925564" "0" "30" "12" "122257416" "122257416" "subst" "0.000583841" "02330" "SETD1B_000077" "g.122257416G>A" "" "" "" "SETD1B(NM_001353345.2):c.3525G>A (p.S1175=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925565" "0" "30" "12" "122257627" "122257627" "subst" "0.000141447" "02330" "SETD1B_000078" "g.122257627C>T" "" "" "" "SETD1B(NM_001353345.2):c.3736C>T (p.R1246W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925566" "0" "30" "12" "122257776" "122257776" "subst" "1.3591E-5" "02330" "SETD1B_000079" "g.122257776C>G" "" "" "" "SETD1B(NM_001353345.2):c.3885C>G (p.P1295=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925567" "0" "30" "12" "122260850" "122260850" "subst" "0.000126714" "02330" "SETD1B_000080" "g.122260850C>T" "" "" "" "SETD1B(NM_001353345.2):c.4365C>T (p.R1455=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925568" "0" "30" "12" "122261133" "122261133" "subst" "0.000292857" "02330" "SETD1B_000081" "g.122261133C>T" "" "" "" "SETD1B(NM_001353345.2):c.4648C>T (p.L1550=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925569" "0" "30" "12" "122261162" "122261162" "subst" "5.67956E-5" "02330" "SETD1B_000082" "g.122261162C>T" "" "" "" "SETD1B(NM_001353345.2):c.4677C>T (p.P1559=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925570" "0" "50" "12" "122261382" "122261382" "subst" "0" "02330" "SETD1B_000083" "g.122261382A>G" "" "" "" "SETD1B(NM_001353345.2):c.4897A>G (p.M1633V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925571" "0" "30" "12" "122263096" "122263096" "subst" "0.000365565" "02330" "SETD1B_000084" "g.122263096C>T" "" "" "" "SETD1B(NM_001353345.2):c.5171-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925572" "0" "30" "12" "122265564" "122265564" "subst" "3.9783E-5" "02330" "SETD1B_000085" "g.122265564C>T" "" "" "" "SETD1B(NM_001353345.2):c.5469+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925573" "0" "30" "12" "122267956" "122267956" "subst" "0.000143562" "02330" "SETD1B_000086" "g.122267956C>G" "" "" "" "SETD1B(NM_001353345.2):c.5728-16C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930032" "0" "30" "12" "122242660" "122242660" "subst" "0.000135647" "02330" "SETD1B_000087" "g.122242660C>A" "" "" "" "SETD1B(NM_001353345.2):c.17C>A (p.P6H, p.(Pro6His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930033" "0" "30" "12" "122246140" "122246140" "subst" "6.74082E-6" "02330" "SETD1B_000088" "g.122246140C>T" "" "" "" "SETD1B(NM_001353345.2):c.571C>T (p.L191=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930034" "0" "30" "12" "122247866" "122247866" "subst" "5.45219E-5" "02330" "SETD1B_000089" "g.122247866G>C" "" "" "" "SETD1B(NM_001353345.2):c.1015G>C (p.V339L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930035" "0" "30" "12" "122248146" "122248146" "subst" "5.13716E-5" "02330" "SETD1B_000090" "g.122248146C>T" "" "" "" "SETD1B(NM_001353345.2):c.1295C>T (p.P432L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930036" "0" "30" "12" "122252064" "122252064" "subst" "0.000227606" "02330" "SETD1B_000091" "g.122252064C>T" "" "" "" "SETD1B(NM_001353345.2):c.1943C>T (p.S648L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930037" "0" "30" "12" "122252209" "122252211" "del" "0" "02330" "SETD1B_000092" "g.122252209_122252211del" "" "" "" "SETD1B(NM_001353345.2):c.2088_2090delACC (p.P699del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930038" "0" "50" "12" "122255315" "122255315" "subst" "7.24333E-6" "02329" "SETD1B_000093" "g.122255315C>A" "" "" "" "SETD1B(NM_001353345.2):c.3017C>A (p.P1006H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930039" "0" "30" "12" "122257333" "122257335" "del" "0" "02330" "SETD1B_000094" "g.122257333_122257335del" "" "" "" "SETD1B(NM_001353345.2):c.3442_3444delTCC (p.S1148del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930040" "0" "30" "12" "122260728" "122260728" "subst" "0.000616693" "02330" "SETD1B_000095" "g.122260728C>A" "" "" "" "SETD1B(NM_001353345.2):c.4243C>A (p.P1415T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930041" "0" "30" "12" "122265940" "122265940" "subst" "0" "02330" "SETD1B_000096" "g.122265940C>T" "" "" "" "SETD1B(NM_001353345.2):c.5691C>T (p.C1897=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949867" "0" "30" "12" "122247864" "122247864" "subst" "0.000702333" "02330" "SETD1B_000097" "g.122247864C>T" "" "" "" "SETD1B(NM_001353345.2):c.1013C>T (p.A338V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949868" "0" "30" "12" "122248192" "122248192" "subst" "0.00052147" "02330" "SETD1B_000098" "g.122248192G>A" "" "" "" "SETD1B(NM_001353345.2):c.1341G>A (p.K447=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949869" "0" "10" "12" "122248329" "122248329" "subst" "0.000464246" "02330" "SETD1B_000022" "g.122248329A>G" "" "" "" "SETD1B(NM_001353345.2):c.1478A>G (p.E493G, p.(Glu493Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000949870" "0" "10" "12" "122252320" "122252320" "subst" "0.00207712" "02330" "SETD1B_000099" "g.122252320G>A" "" "" "" "SETD1B(NM_001353345.2):c.2199G>A (p.P733=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000949871" "0" "30" "12" "122254944" "122254944" "subst" "7.64257E-6" "02330" "SETD1B_000100" "g.122254944G>T" "" "" "" "SETD1B(NM_001353345.2):c.2721G>T (p.S907=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949872" "0" "30" "12" "122255475" "122255475" "subst" "1.36084E-5" "02330" "SETD1B_000101" "g.122255475A>G" "" "" "" "SETD1B(NM_001353345.2):c.3177A>G (p.S1059=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949873" "0" "30" "12" "122260540" "122260540" "subst" "0.000132559" "02330" "SETD1B_000102" "g.122260540C>T" "" "" "" "SETD1B(NM_001353345.2):c.4055C>T (p.P1352L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949874" "0" "10" "12" "122261070" "122261070" "subst" "0.000139887" "02330" "SETD1B_000103" "g.122261070A>G" "" "" "" "SETD1B(NM_001353345.2):c.4585A>G (p.M1529V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000949875" "0" "30" "12" "122261144" "122261144" "subst" "0.000242117" "02330" "SETD1B_000104" "g.122261144G>A" "" "" "" "SETD1B(NM_001353345.2):c.4659G>A (p.P1553=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949876" "0" "30" "12" "122261344" "122261344" "subst" "0.000103742" "02330" "SETD1B_000105" "g.122261344C>T" "" "" "" "SETD1B(NM_001353345.2):c.4859C>T (p.P1620L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949877" "0" "30" "12" "122261385" "122261385" "subst" "2.70577E-5" "02330" "SETD1B_000106" "g.122261385G>A" "" "" "" "SETD1B(NM_001353345.2):c.4900G>A (p.E1634K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949878" "0" "30" "12" "122261465" "122261465" "subst" "6.65522E-5" "02330" "SETD1B_000107" "g.122261465C>T" "" "" "" "SETD1B(NM_001353345.2):c.4980C>T (p.P1660=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949879" "0" "10" "12" "122263248" "122263248" "subst" "0.000338187" "02330" "SETD1B_000108" "g.122263248C>T" "" "" "" "SETD1B(NM_001353345.2):c.5313C>T (p.T1771=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000949880" "0" "70" "12" "122265531" "122265531" "subst" "0" "02327" "SETD1B_000109" "g.122265531A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000949881" "0" "30" "12" "122265868" "122265868" "subst" "1.97348E-5" "02330" "SETD1B_000110" "g.122265868T>C" "" "" "" "SETD1B(NM_001353345.2):c.5619T>C (p.Y1873=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966758" "0" "30" "12" "122247541" "122247541" "subst" "3.38882E-5" "02330" "SETD1B_000111" "g.122247541A>G" "" "" "" "SETD1B(NM_001353345.2):c.690A>G (p.G230=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966759" "0" "10" "12" "122248222" "122248222" "subst" "0.000175992" "02330" "SETD1B_000112" "g.122248222C>T" "" "" "" "SETD1B(NM_001353345.2):c.1371C>T (p.P457=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000966760" "0" "30" "12" "122248296" "122248296" "subst" "2.76171E-5" "02330" "SETD1B_000113" "g.122248296C>T" "" "" "" "SETD1B(NM_001353345.2):c.1445C>T (p.T482M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966761" "0" "30" "12" "122252209" "122252209" "subst" "0" "02330" "SETD1B_000114" "g.122252209A>C" "" "" "" "SETD1B(NM_001353345.2):c.2088A>C (p.P696=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966762" "0" "30" "12" "122252245" "122252245" "subst" "0" "02330" "SETD1B_000115" "g.122252245G>A" "" "" "" "SETD1B(NM_001353345.2):c.2124G>A (p.P708=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966763" "0" "30" "12" "122252647" "122252647" "subst" "0.00014805" "02330" "SETD1B_000116" "g.122252647G>A" "" "" "" "SETD1B(NM_001353345.2):c.2526G>A (p.P842=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966764" "0" "30" "12" "122254977" "122254977" "subst" "1.39476E-5" "02330" "SETD1B_000117" "g.122254977C>T" "" "" "" "SETD1B(NM_001353345.2):c.2754C>T (p.D918=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966765" "0" "30" "12" "122255297" "122255297" "subst" "0.000202578" "02330" "SETD1B_000118" "g.122255297G>A" "" "" "" "SETD1B(NM_001353345.2):c.2999G>A (p.R1000Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966766" "0" "10" "12" "122255494" "122255494" "subst" "0" "02330" "SETD1B_000119" "g.122255494G>A" "" "" "" "SETD1B(NM_001353345.2):c.3196G>A (p.D1066N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000966767" "0" "30" "12" "122255720" "122255720" "subst" "3.38034E-5" "02330" "SETD1B_000120" "g.122255720G>A" "" "" "" "SETD1B(NM_001353345.2):c.3328G>A (p.D1110N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966768" "0" "50" "12" "122255741" "122255741" "subst" "0" "02330" "SETD1B_000121" "g.122255741T>C" "" "" "" "SETD1B(NM_001353345.2):c.3349T>C (p.S1117P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966770" "0" "30" "12" "122257571" "122257571" "subst" "0.000323158" "02330" "SETD1B_000123" "g.122257571C>T" "" "" "" "SETD1B(NM_001353345.2):c.3680C>T (p.S1227L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966771" "0" "30" "12" "122257702" "122257702" "subst" "5.36733E-5" "02330" "SETD1B_000124" "g.122257702G>A" "" "" "" "SETD1B(NM_001353345.2):c.3811G>A (p.E1271K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966772" "0" "30" "12" "122260402" "122260402" "subst" "0.000171167" "02330" "SETD1B_000125" "g.122260402A>T" "" "" "" "SETD1B(NM_001353345.2):c.3917A>T (p.D1306V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966773" "0" "30" "12" "122260619" "122260619" "subst" "7.28905E-6" "02330" "SETD1B_000126" "g.122260619G>A" "" "" "" "SETD1B(NM_001353345.2):c.4134G>A (p.T1378=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966774" "0" "30" "12" "122260968" "122260968" "subst" "0" "02330" "SETD1B_000127" "g.122260968C>T" "" "" "" "SETD1B(NM_001353345.2):c.4483C>T (p.R1495C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966775" "0" "30" "12" "122261208" "122261208" "subst" "0" "02330" "SETD1B_000128" "g.122261208C>A" "" "" "" "SETD1B(NM_001353345.2):c.4723C>A (p.R1575=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966776" "0" "30" "12" "122261248" "122261248" "subst" "0" "02330" "SETD1B_000129" "g.122261248C>G" "" "" "" "SETD1B(NM_001353345.2):c.4763C>G (p.P1588R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966778" "0" "30" "12" "122263155" "122263155" "subst" "3.29846E-5" "02330" "SETD1B_000009" "g.122263155C>T" "" "" "" "SETD1B(NM_001353345.2):c.5220C>T (p.R1740=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980080" "0" "30" "12" "122242660" "122242660" "subst" "0.000135647" "01804" "SETD1B_000087" "g.122242660C>A" "" "" "" "SETD1B(NM_001353345.2):c.17C>A (p.P6H, p.(Pro6His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980081" "0" "30" "12" "122243018" "122243018" "subst" "0.00130585" "01804" "SETD1B_000040" "g.122243018C>T" "" "" "" "SETD1B(NM_001353345.2):c.175-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980082" "0" "30" "12" "122243127" "122243127" "subst" "9.4833E-5" "02325" "SETD1B_000070" "g.122243127G>A" "" "" "" "SETD1B(NM_001353345.2):c.273+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980083" "0" "30" "12" "122247773" "122247773" "subst" "6.74018E-6" "01804" "SETD1B_000131" "g.122247773T>C" "" "" "" "SETD1B(NM_001353345.2):c.922T>C (p.(Phe308Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980084" "0" "30" "12" "122248003" "122248003" "subst" "9.11858E-5" "02330" "SETD1B_000132" "g.122248003C>T" "" "" "" "SETD1B(NM_001353345.2):c.1152C>T (p.P384=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980085" "0" "30" "12" "122248083" "122248083" "subst" "0.00108985" "02330" "SETD1B_000133" "g.122248083C>T" "" "" "" "SETD1B(NM_001353345.2):c.1232C>T (p.P411L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980086" "0" "30" "12" "122248207" "122248207" "subst" "0.00122835" "02330" "SETD1B_000134" "g.122248207C>T" "" "" "" "SETD1B(NM_001353345.2):c.1356C>T (p.P452=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980087" "0" "30" "12" "122248329" "122248329" "subst" "0.000464246" "01804" "SETD1B_000022" "g.122248329A>G" "" "" "" "SETD1B(NM_001353345.2):c.1478A>G (p.E493G, p.(Glu493Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980088" "0" "50" "12" "122255498" "122255498" "subst" "0" "01804" "SETD1B_000135" "g.122255498A>G" "" "" "" "SETD1B(NM_001353345.2):c.3200A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980089" "0" "30" "12" "122260581" "122260581" "subst" "6.12137E-5" "02330" "SETD1B_000136" "g.122260581C>A" "" "" "" "SETD1B(NM_001353345.2):c.4096C>A (p.L1366I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980090" "0" "30" "12" "122260635" "122260635" "subst" "0.00358426" "01804" "SETD1B_000137" "g.122260635G>C" "" "" "" "SETD1B(NM_001353345.2):c.4150G>C (p.(Gly1384Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980091" "0" "50" "12" "122260846" "122260846" "subst" "0" "01804" "SETD1B_000138" "g.122260846G>A" "" "" "" "SETD1B(NM_001353345.2):c.4361G>A (p.(Arg1454Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980092" "0" "50" "12" "122261013" "122261013" "subst" "0" "01804" "SETD1B_000139" "g.122261013T>G" "" "" "" "SETD1B(NM_001353345.2):c.4528T>G (p.(Ser1510Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980093" "0" "50" "12" "122265513" "122265513" "subst" "0" "01804" "SETD1B_000140" "g.122265513C>G" "" "" "" "SETD1B(NM_001353345.2):c.5426C>G (p.(Thr1809Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980094" "0" "30" "12" "122265769" "122265769" "subst" "3.19085E-5" "01804" "SETD1B_000141" "g.122265769C>T" "" "" "" "SETD1B(NM_001353345.2):c.5589+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980095" "0" "90" "12" "122268086" "122268086" "subst" "0" "01804" "SETD1B_000014" "g.122268086G>A" "" "" "" "SETD1B(NM_001353345.1):c.5842G>A (p.E1948K), SETD1B(NM_001353345.2):c.5842G>A (p.(Glu1948Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000999764" "0" "30" "12" "122242660" "122242660" "subst" "0" "01804" "SETD1B_000142" "g.122242660C>T" "" "" "" "SETD1B(NM_015048.1):c.17C>T (p.(Pro6Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999765" "0" "30" "12" "122242666" "122242666" "subst" "0.00277934" "01804" "SETD1B_000039" "g.122242666A>C" "" "" "" "SETD1B(NM_001353345.2):c.23A>C (p.H8P), SETD1B(NM_015048.1):c.23A>C (p.(His8Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999766" "0" "30" "12" "122247751" "122247751" "subst" "3.36723E-5" "01804" "SETD1B_000143" "g.122247751C>A" "" "" "" "SETD1B(NM_015048.1):c.900C>A (p.(Phe300Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999767" "0" "30" "12" "122247951" "122247951" "subst" "0.003741" "01804" "SETD1B_000019" "g.122247951C>T" "" "" "" "SETD1B(NM_001353345.2):c.1100C>T (p.P367L), SETD1B(NM_015048.1):c.1100C>T (p.(Pro367Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999768" "0" "30" "12" "122248251" "122248251" "subst" "0" "01804" "SETD1B_000144" "g.122248251G>A" "" "" "" "SETD1B(NM_015048.1):c.1400G>A (p.(Arg467Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999769" "0" "50" "12" "122248383" "122248383" "subst" "0" "01804" "SETD1B_000145" "g.122248383G>A" "" "" "" "SETD1B(NM_015048.1):c.1532G>A (p.(Arg511His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999770" "0" "30" "12" "122252060" "122252060" "subst" "2.84531E-5" "01804" "SETD1B_000146" "g.122252060C>A" "" "" "" "SETD1B(NM_001353345.2):c.1939C>A (p.(Pro647Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999771" "0" "30" "12" "122252126" "122252126" "subst" "0" "01804" "SETD1B_000147" "g.122252126G>A" "" "" "" "SETD1B(NM_015048.1):c.2005G>A (p.(Val669Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999772" "0" "50" "12" "122252492" "122252492" "subst" "1.54854E-5" "01804" "SETD1B_000148" "g.122252492G>T" "" "" "" "SETD1B(NM_015048.1):c.2371G>T (p.(Ala791Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999773" "0" "30" "12" "122252523" "122252523" "subst" "1.44259E-5" "01804" "SETD1B_000149" "g.122252523C>T" "" "" "" "SETD1B(NM_001353345.2):c.2402C>T (p.A801V), SETD1B(NM_015048.1):c.2402C>T (p.(Ala801Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999774" "0" "50" "12" "122255176" "122255176" "subst" "0" "01804" "SETD1B_000150" "g.122255176A>G" "" "" "" "SETD1B(NM_015048.1):c.2953A>G (p.(Thr985Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999775" "0" "30" "12" "122255537" "122255542" "del" "0" "01804" "SETD1B_000151" "g.122255537_122255542del" "" "" "" "SETD1B(NM_015048.1):c.3161_3166delCGGAGG (p.(Ala1054_Glu1055del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999776" "0" "30" "12" "122257526" "122257526" "subst" "1.34171E-5" "01804" "SETD1B_000152" "g.122257526A>G" "" "" "" "SETD1B(NM_015048.1):c.3506A>G (p.(Asp1169Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999777" "0" "30" "12" "122257721" "122257721" "subst" "6.70601E-6" "01804" "SETD1B_000153" "g.122257721A>G" "" "" "" "SETD1B(NM_015048.1):c.3701A>G (p.(Glu1234Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999778" "0" "30" "12" "122257726" "122257726" "subst" "3.35354E-5" "01804" "SETD1B_000154" "g.122257726G>A" "" "" "" "SETD1B(NM_015048.1):c.3706G>A (p.(Ala1236Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999779" "0" "90" "12" "122260586" "122260587" "del" "0" "02329" "SETD1B_000155" "g.122260586_122260587del" "" "" "" "SETD1B(NM_001353345.2):c.4101_4102delTG (p.C1367Wfs*49)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000999780" "0" "50" "12" "122260638" "122260638" "subst" "2.31232E-5" "01804" "SETD1B_000156" "g.122260638G>A" "" "" "" "SETD1B(NM_015048.1):c.4024G>A (p.(Gly1342Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999781" "0" "30" "12" "122260969" "122260969" "subst" "0" "01804" "SETD1B_000157" "g.122260969G>C" "" "" "" "SETD1B(NM_015048.1):c.4355G>C (p.(Arg1452Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999782" "0" "30" "12" "122261187" "122261187" "subst" "3.56827E-5" "01804" "SETD1B_000158" "g.122261187C>T" "" "" "" "SETD1B(NM_015048.1):c.4573C>T (p.(Arg1525Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014921" "0" "50" "12" "122242781" "122242781" "subst" "0" "02330" "SETD1B_000159" "g.122242781A>T" "" "" "" "SETD1B(NM_001353345.2):c.138A>T (p.K46N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014922" "0" "30" "12" "122243074" "122243074" "subst" "0.000417003" "02330" "SETD1B_000160" "g.122243074G>A" "" "" "" "SETD1B(NM_001353345.2):c.225G>A (p.G75=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014923" "0" "30" "12" "122247808" "122247808" "subst" "0.000251038" "02330" "SETD1B_000161" "g.122247808C>T" "" "" "" "SETD1B(NM_001353345.2):c.957C>T (p.D319=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014924" "0" "30" "12" "122248654" "122248654" "subst" "0.000148898" "02330" "SETD1B_000162" "g.122248654G>A" "" "" "" "SETD1B(NM_001353345.2):c.1803G>A (p.P601=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014925" "0" "30" "12" "122252793" "122252793" "subst" "0.000115588" "02330" "SETD1B_000163" "g.122252793G>C" "" "" "" "SETD1B(NM_001353345.2):c.2672G>C (p.R891P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014926" "0" "30" "12" "122254983" "122254983" "subst" "0.000256912" "02330" "SETD1B_000052" "g.122254983C>G" "" "" "" "SETD1B(NM_001353345.2):c.2760C>G (p.D920E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014927" "0" "30" "12" "122257644" "122257644" "subst" "6.72857E-6" "02330" "SETD1B_000164" "g.122257644C>T" "" "" "" "SETD1B(NM_001353345.2):c.3753C>T (p.D1251=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014928" "0" "30" "12" "122260380" "122260380" "subst" "0.000201228" "02330" "SETD1B_000165" "g.122260380G>C" "" "" "" "SETD1B(NM_001353345.2):c.3911-16G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014929" "0" "30" "12" "122261468" "122261468" "subst" "0.000379191" "02330" "SETD1B_000130" "g.122261468A>G" "" "" "" "SETD1B(NM_001353345.2):c.4983A>G (p.E1661=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026113" "0" "30" "12" "122246206" "122246206" "subst" "0.000108326" "02330" "SETD1B_000166" "g.122246206A>G" "" "" "" "SETD1B(NM_001353345.2):c.637A>G (p.I213V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026114" "0" "30" "12" "122252523" "122252523" "subst" "1.44259E-5" "02330" "SETD1B_000149" "g.122252523C>T" "" "" "" "SETD1B(NM_001353345.2):c.2402C>T (p.A801V), SETD1B(NM_015048.1):c.2402C>T (p.(Ala801Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039013" "0" "30" "12" "122243127" "122243127" "subst" "9.4833E-5" "01804" "SETD1B_000070" "g.122243127G>A" "" "" "" "SETD1B(NM_001353345.2):c.273+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039014" "0" "30" "12" "122248118" "122248118" "subst" "4.29602E-5" "01804" "SETD1B_000167" "g.122248118C>T" "" "" "" "SETD1B(NM_001353345.2):c.1267C>T (p.(Arg423Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039015" "0" "30" "12" "122248133" "122248133" "subst" "0.000144363" "01804" "SETD1B_000032" "g.122248133T>C" "" "" "" "SETD1B(NM_001353345.1):c.1282T>C (p.F428L), SETD1B(NM_001353345.2):c.1282T>C (p.(Phe428Leu), p.F428L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039016" "0" "50" "12" "122248133" "122248133" "subst" "0.000144363" "02325" "SETD1B_000032" "g.122248133T>C" "" "" "" "SETD1B(NM_001353345.1):c.1282T>C (p.F428L), SETD1B(NM_001353345.2):c.1282T>C (p.(Phe428Leu), p.F428L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039017" "0" "50" "12" "122248149" "122248149" "subst" "2.94559E-5" "01804" "SETD1B_000168" "g.122248149C>T" "" "" "" "SETD1B(NM_001353345.2):c.1298C>T (p.(Ala433Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039018" "0" "30" "12" "122248505" "122248505" "subst" "0.000444767" "01804" "SETD1B_000023" "g.122248505C>T" "" "" "" "SETD1B(NM_001353345.2):c.1654C>T (p.P552S, p.(Pro552Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039019" "0" "50" "12" "122252414" "122252414" "subst" "0" "01804" "SETD1B_000169" "g.122252414G>A" "" "" "" "SETD1B(NM_001353345.2):c.2293G>A (p.(Gly765Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039020" "0" "30" "12" "122252574" "122252574" "subst" "3.43619E-5" "01804" "SETD1B_000170" "g.122252574G>A" "" "" "" "SETD1B(NM_001353345.2):c.2453G>A (p.(Arg818Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039021" "0" "30" "12" "122252826" "122252826" "subst" "2.0682E-5" "01804" "SETD1B_000171" "g.122252826G>A" "" "" "" "SETD1B(NM_001353345.2):c.2705G>A (p.(Arg902Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039022" "0" "30" "12" "122254954" "122254954" "subst" "3.6482E-5" "01804" "SETD1B_000172" "g.122254954G>T" "" "" "" "SETD1B(NM_001353345.2):c.2731G>T (p.(Val911Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039023" "0" "30" "12" "122260728" "122260728" "subst" "0.000616693" "02325" "SETD1B_000095" "g.122260728C>A" "" "" "" "SETD1B(NM_001353345.2):c.4243C>A (p.P1415T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039024" "0" "30" "12" "122261188" "122261188" "subst" "0.00029976" "01804" "SETD1B_000173" "g.122261188G>A" "" "" "" "SETD1B(NM_001353345.2):c.4703G>A (p.(Arg1568Gln))" "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 SETD1B ## Count = 196 "{{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}}" "0000323178" "00018747" "50" "282" "0" "282" "0" "c.282G>C" "r.(?)" "p.(Glu94Asp)" "" "0000323179" "00018747" "50" "3853" "0" "3853" "0" "c.3853C>T" "r.(?)" "p.(Pro1285Ser)" "" "0000546896" "00018747" "30" "30" "0" "30" "0" "c.30C>A" "r.(?)" "p.(His10Gln)" "" "0000546897" "00018747" "50" "317" "0" "317" "0" "c.317C>T" "r.(?)" "p.(Thr106Ile)" "" "0000546899" "00018747" "50" "2730" "0" "2730" "0" "c.2730G>A" "r.(?)" "p.(Pro910=)" "" "0000546901" "00018747" "30" "5091" "0" "5091" "0" "c.5091C>T" "r.(?)" "p.(Arg1697=)" "" "0000546902" "00018747" "70" "5113" "0" "5113" "0" "c.5113C>T" "r.(?)" "p.(Arg1705Cys)" "" "0000613914" "00018747" "50" "285" "0" "286" "0" "c.285_286del" "r.(?)" "p.(Phe95LeufsTer17)" "" "0000613915" "00018747" "50" "362" "0" "363" "0" "c.362_363insTGT" "r.(?)" "p.(Asp121_Met122insVal)" "" "0000613916" "00018747" "50" "5713" "0" "5713" "0" "c.5713G>A" "r.(?)" "p.(Glu1905Lys)" "" "0000622793" "00018747" "50" "3257" "0" "3257" "0" "c.3257C>T" "r.(?)" "p.(Ala1086Val)" "" "0000657005" "00018747" "50" "2222" "0" "2222" "0" "c.2222T>A" "r.(?)" "p.(Ile741Asn)" "" "0000657006" "00018747" "70" "5345" "0" "5345" "0" "c.5345G>C" "r.(?)" "p.(Arg1782Pro)" "" "0000657007" "00018747" "90" "5573" "0" "5573" "0" "c.5573C>A" "r.(?)" "p.(Ala1858Glu)" "" "0000679417" "00018747" "50" "887" "0" "887" "0" "c.887C>T" "r.(?)" "p.(Pro296Leu)" "" "0000691262" "00018747" "30" "1100" "0" "1100" "0" "c.1100C>T" "r.(?)" "p.(Pro367Leu)" "" "0000691263" "00018747" "10" "3177" "0" "3182" "0" "c.3177_3182del" "r.(?)" "p.(Glu1060_Glu1061del)" "" "0000694907" "00018747" "10" "1100" "0" "1100" "0" "c.1100C>T" "r.(?)" "p.(Pro367Leu)" "" "0000694908" "00018747" "10" "1100" "0" "1100" "0" "c.1100C>T" "r.(?)" "p.(Pro367Leu)" "" "0000694909" "00018747" "10" "1100" "0" "1100" "0" "c.1100C>T" "r.(?)" "p.(Pro367Leu)" "" "0000694910" "00018747" "50" "1286" "0" "1286" "0" "c.1286G>A" "r.(?)" "p.(Arg429Gln)" "" "0000694911" "00018747" "50" "1478" "0" "1478" "0" "c.1478A>G" "r.(?)" "p.(Glu493Gly)" "" "0000694912" "00018747" "50" "1654" "0" "1654" "0" "c.1654C>T" "r.(?)" "p.(Pro552Ser)" "" "0000694913" "00018747" "50" "2378" "0" "2378" "0" "c.2378C>G" "r.(?)" "p.(Pro793Arg)" "" "0000694914" "00018747" "50" "2444" "0" "2444" "0" "c.2444C>A" "r.(?)" "p.(Pro815Gln)" "" "0000694915" "00018747" "50" "3013" "0" "3013" "0" "c.3013dup" "r.(?)" "p.(Thr1005Asnfs*4)" "" "0000694916" "00018747" "30" "3458" "0" "3458" "0" "c.3458T>A" "r.(?)" "p.(Val1153Glu)" "" "0000694917" "00018747" "50" "3464" "0" "3464" "0" "c.3464A>C" "r.(?)" "p.(Glu1155Ala)" "" "0000694918" "00018747" "30" "3953" "0" "3953" "0" "c.3953C>T" "r.(?)" "p.(Pro1318Leu)" "" "0000694919" "00018747" "50" "4549" "0" "4549" "0" "c.4549G>A" "r.(?)" "p.(Val1517Ile)" "" "0000694920" "00018747" "50" "4852" "0" "4852" "0" "c.4852G>A" "r.(?)" "p.(Glu1618Lys)" "" "0000723881" "00018747" "50" "1282" "0" "1282" "0" "c.1282T>C" "r.(?)" "p.(Phe428Leu)" "" "0000723882" "00018747" "50" "1744" "0" "1744" "0" "c.1744G>A" "r.(?)" "p.(Glu582Lys)" "" "0000723883" "00018747" "50" "5575" "0" "5575" "0" "c.5575C>T" "r.(?)" "p.(Arg1859Cys)" "" "0000805564" "00018747" "50" "3074" "0" "3074" "0" "c.3074G>A" "r.(?)" "p.(Arg1025Gln)" "" "0000805565" "00018747" "90" "5575" "0" "5575" "0" "c.5575C>T" "r.(?)" "p.(Arg1859Cys)" "" "0000805566" "00018747" "70" "5737" "0" "5737" "0" "c.5737T>C" "r.(?)" "p.(Cys1913Arg)" "" "0000823563" "00018747" "70" "3026" "0" "3048" "0" "c.3026_3048del" "r.(?)" "p.(Leu1009Argfs*47)" "" "0000853288" "00018747" "50" "4721" "0" "4721" "0" "c.4721C>T" "r.(?)" "p.(Ala1574Val)" "" "0000853289" "00018747" "90" "5575" "0" "5575" "0" "c.5575C>T" "r.(?)" "p.(Arg1859Cys)" "" "0000872205" "00018747" "50" "1633" "0" "1633" "0" "c.1633C>T" "r.(?)" "p.(Pro545Ser)" "" "0000890338" "00018747" "30" "23" "0" "23" "0" "c.23A>C" "r.(?)" "p.(His8Pro)" "" "0000890339" "00018747" "30" "175" "-6" "175" "-6" "c.175-6C>T" "r.(=)" "p.(=)" "" "0000890340" "00018747" "30" "624" "0" "624" "0" "c.624C>T" "r.(?)" "p.(=)" "" "0000890341" "00018747" "30" "657" "14" "657" "14" "c.657+14C>T" "r.(=)" "p.(=)" "" "0000890342" "00018747" "50" "892" "0" "892" "0" "c.892T>A" "r.(?)" "p.(Tyr298Asn)" "" "0000890343" "00018747" "30" "960" "0" "960" "0" "c.960C>A" "r.(?)" "p.(=)" "" "0000890344" "00018747" "50" "970" "0" "970" "0" "c.970C>T" "r.(?)" "p.(Arg324Cys)" "" "0000890345" "00018747" "30" "1058" "0" "1058" "0" "c.1058C>T" "r.(?)" "p.(Pro353Leu)" "" "0000890346" "00018747" "30" "1100" "0" "1100" "0" "c.1100C>T" "r.(?)" "p.(Pro367Leu)" "" "0000890347" "00018747" "10" "1263" "0" "1263" "0" "c.1263G>A" "r.(?)" "p.(=)" "" "0000890348" "00018747" "30" "1372" "0" "1372" "0" "c.1372G>A" "r.(?)" "p.(Asp458Asn)" "" "0000890349" "00018747" "30" "1654" "0" "1654" "0" "c.1654C>T" "r.(?)" "p.(Pro552Ser)" "" "0000890350" "00018747" "30" "1654" "0" "1654" "0" "c.1654C>T" "r.(?)" "p.(Pro552Ser)" "" "0000890351" "00018747" "30" "1749" "0" "1749" "0" "c.1749C>T" "r.(?)" "p.(=)" "" "0000890352" "00018747" "10" "2079" "0" "2079" "0" "c.2079A>C" "r.(?)" "p.(=)" "" "0000890353" "00018747" "30" "2403" "0" "2403" "0" "c.2403G>A" "r.(?)" "p.(=)" "" "0000890354" "00018747" "30" "2760" "0" "2760" "0" "c.2760C>G" "r.(?)" "p.(Asp920Glu)" "" "0000890355" "00018747" "10" "2817" "0" "2817" "0" "c.2817C>T" "r.(?)" "p.(=)" "" "0000890356" "00018747" "30" "3126" "21" "3126" "21" "c.3126+21G>A" "r.(=)" "p.(=)" "" "0000890357" "00018747" "10" "3301" "0" "3301" "0" "c.3301A>G" "r.(?)" "p.(Ser1101Gly)" "" "0000890358" "00018747" "30" "3458" "0" "3458" "0" "c.3458T>A" "r.(?)" "p.(Val1153Glu)" "" "0000890359" "00018747" "10" "3872" "0" "3872" "0" "c.3872C>G" "r.(?)" "p.(Pro1291Arg)" "" "0000890360" "00018747" "30" "4549" "0" "4549" "0" "c.4549G>A" "r.(?)" "p.(Val1517Ile)" "" "0000890361" "00018747" "30" "4569" "0" "4569" "0" "c.4569C>T" "r.(?)" "p.(=)" "" "0000890362" "00018747" "30" "4848" "0" "4848" "0" "c.4848G>A" "r.(?)" "p.(=)" "" "0000890363" "00018747" "30" "4974" "0" "4974" "0" "c.4974C>T" "r.(?)" "p.(=)" "" "0000890364" "00018747" "30" "5209" "-11" "5209" "-11" "c.5209-11G>C" "r.(=)" "p.(=)" "" "0000890365" "00018747" "30" "5376" "0" "5376" "0" "c.5376C>T" "r.(?)" "p.(=)" "" "0000890366" "00018747" "50" "5746" "0" "5746" "0" "c.5746G>T" "r.(?)" "p.(Glu1916*)" "" "0000913777" "00018747" "30" "1797" "0" "1797" "0" "c.1797C>T" "r.(?)" "p.(=)" "" "0000913778" "00018747" "70" "2078" "0" "2078" "0" "c.2078dup" "r.(?)" "p.(Pro694Thrfs*148)" "" "0000913779" "00018747" "50" "3177" "0" "3182" "0" "c.3177_3182dup" "r.(?)" "p.(Glu1060_Glu1061dup)" "" "0000913780" "00018747" "50" "3296" "0" "3296" "0" "c.3296C>T" "r.(?)" "p.(Thr1099Ile)" "" "0000913781" "00018747" "30" "5658" "0" "5658" "0" "c.5658G>A" "r.(?)" "p.(=)" "" "0000913782" "00018747" "30" "5667" "0" "5667" "0" "c.5667C>T" "r.(?)" "p.(=)" "" "0000913783" "00018747" "50" "5734" "0" "5734" "0" "c.5734C>T" "r.(?)" "p.(Leu1912Phe)" "" "0000925557" "00018747" "30" "273" "5" "273" "5" "c.273+5G>A" "r.spl?" "p.?" "" "0000925558" "00018747" "10" "1023" "0" "1023" "0" "c.1023G>A" "r.(?)" "p.(=)" "" "0000925559" "00018747" "50" "1489" "0" "1489" "0" "c.1489G>C" "r.(?)" "p.(Asp497His)" "" "0000925560" "00018747" "50" "2560" "0" "2560" "0" "c.2560G>A" "r.(?)" "p.(Glu854Lys)" "" "0000925561" "00018747" "30" "2928" "0" "2928" "0" "c.2928C>T" "r.(?)" "p.(=)" "" "0000925562" "00018747" "30" "3127" "-34" "3127" "-34" "c.3127-34C>T" "r.(=)" "p.(=)" "" "0000925563" "00018747" "30" "3127" "-6" "3127" "-4" "c.3127-6_3127-4del" "r.spl?" "p.?" "" "0000925564" "00018747" "30" "3396" "0" "3396" "0" "c.3396G>A" "r.(?)" "p.(=)" "" "0000925565" "00018747" "30" "3607" "0" "3607" "0" "c.3607C>T" "r.(?)" "p.(Arg1203Trp)" "" "0000925566" "00018747" "30" "3756" "0" "3756" "0" "c.3756C>G" "r.(?)" "p.(=)" "" "0000925567" "00018747" "30" "4236" "0" "4236" "0" "c.4236C>T" "r.(?)" "p.(=)" "" "0000925568" "00018747" "30" "4519" "0" "4519" "0" "c.4519C>T" "r.(?)" "p.(=)" "" "0000925569" "00018747" "30" "4548" "0" "4548" "0" "c.4548C>T" "r.(?)" "p.(=)" "" "0000925570" "00018747" "50" "4768" "0" "4768" "0" "c.4768A>G" "r.(?)" "p.(Met1590Val)" "" "0000925571" "00018747" "30" "5042" "-10" "5042" "-10" "c.5042-10C>T" "r.(=)" "p.(=)" "" "0000925572" "00018747" "30" "5340" "8" "5340" "8" "c.5340+8C>T" "r.(=)" "p.(=)" "" "0000925573" "00018747" "30" "5599" "-16" "5599" "-16" "c.5599-16C>G" "r.(=)" "p.(=)" "" "0000930032" "00018747" "30" "17" "0" "17" "0" "c.17C>A" "r.(?)" "p.(Pro6His)" "" "0000930033" "00018747" "30" "571" "0" "571" "0" "c.571C>T" "r.(?)" "p.(=)" "" "0000930034" "00018747" "30" "1015" "0" "1015" "0" "c.1015G>C" "r.(?)" "p.(Val339Leu)" "" "0000930035" "00018747" "30" "1295" "0" "1295" "0" "c.1295C>T" "r.(?)" "p.(Pro432Leu)" "" "0000930036" "00018747" "30" "1943" "0" "1943" "0" "c.1943C>T" "r.(?)" "p.(Ser648Leu)" "" "0000930037" "00018747" "30" "2088" "0" "2090" "0" "c.2088_2090del" "r.(?)" "p.(Pro699del)" "" "0000930038" "00018747" "50" "3017" "0" "3017" "0" "c.3017C>A" "r.(?)" "p.(Pro1006His)" "" "0000930039" "00018747" "30" "3313" "0" "3315" "0" "c.3313_3315del" "r.(?)" "p.(Ser1105del)" "" "0000930040" "00018747" "30" "4114" "0" "4114" "0" "c.4114C>A" "r.(?)" "p.(Pro1372Thr)" "" "0000930041" "00018747" "30" "5562" "0" "5562" "0" "c.5562C>T" "r.(?)" "p.(=)" "" "0000949867" "00018747" "30" "1013" "0" "1013" "0" "c.1013C>T" "r.(?)" "p.(Ala338Val)" "" "0000949868" "00018747" "30" "1341" "0" "1341" "0" "c.1341G>A" "r.(?)" "p.(=)" "" "0000949869" "00018747" "10" "1478" "0" "1478" "0" "c.1478A>G" "r.(?)" "p.(Glu493Gly)" "" "0000949870" "00018747" "10" "2199" "0" "2199" "0" "c.2199G>A" "r.(?)" "p.(=)" "" "0000949871" "00018747" "30" "2721" "0" "2721" "0" "c.2721G>T" "r.(?)" "p.(=)" "" "0000949872" "00018747" "30" "3127" "-28" "3127" "-28" "c.3127-28A>G" "r.(=)" "p.(=)" "" "0000949873" "00018747" "30" "3926" "0" "3926" "0" "c.3926C>T" "r.(?)" "p.(Pro1309Leu)" "" "0000949874" "00018747" "10" "4456" "0" "4456" "0" "c.4456A>G" "r.(?)" "p.(Met1486Val)" "" "0000949875" "00018747" "30" "4530" "0" "4530" "0" "c.4530G>A" "r.(?)" "p.(=)" "" "0000949876" "00018747" "30" "4730" "0" "4730" "0" "c.4730C>T" "r.(?)" "p.(Pro1577Leu)" "" "0000949877" "00018747" "30" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Glu1591Lys)" "" "0000949878" "00018747" "30" "4851" "0" "4851" "0" "c.4851C>T" "r.(?)" "p.(=)" "" "0000949879" "00018747" "10" "5184" "0" "5184" "0" "c.5184C>T" "r.(?)" "p.(=)" "" "0000949880" "00018747" "70" "5315" "0" "5315" "0" "c.5315A>T" "r.(?)" "p.(Asp1772Val)" "" "0000949881" "00018747" "30" "5490" "0" "5490" "0" "c.5490T>C" "r.(?)" "p.(=)" "" "0000966758" "00018747" "30" "690" "0" "690" "0" "c.690A>G" "r.(?)" "p.(=)" "" "0000966759" "00018747" "10" "1371" "0" "1371" "0" "c.1371C>T" "r.(?)" "p.(=)" "" "0000966760" "00018747" "30" "1445" "0" "1445" "0" "c.1445C>T" "r.(?)" "p.(Thr482Met)" "" "0000966761" "00018747" "30" "2088" "0" "2088" "0" "c.2088A>C" "r.(?)" "p.(=)" "" "0000966762" "00018747" "30" "2124" "0" "2124" "0" "c.2124G>A" "r.(?)" "p.(=)" "" "0000966763" "00018747" "30" "2526" "0" "2526" "0" "c.2526G>A" "r.(?)" "p.(=)" "" "0000966764" "00018747" "30" "2754" "0" "2754" "0" "c.2754C>T" "r.(?)" "p.(=)" "" "0000966765" "00018747" "30" "2999" "0" "2999" "0" "c.2999G>A" "r.(?)" "p.(Arg1000Gln)" "" "0000966766" "00018747" "10" "3127" "-9" "3127" "-9" "c.3127-9G>A" "r.(=)" "p.(=)" "" "0000966767" "00018747" "30" "3199" "0" "3199" "0" "c.3199G>A" "r.(?)" "p.(Asp1067Asn)" "" "0000966768" "00018747" "50" "3220" "0" "3220" "0" "c.3220T>C" "r.(?)" "p.(Ser1074Pro)" "" "0000966770" "00018747" "30" "3551" "0" "3551" "0" "c.3551C>T" "r.(?)" "p.(Ser1184Leu)" "" "0000966771" "00018747" "30" "3682" "0" "3682" "0" "c.3682G>A" "r.(?)" "p.(Glu1228Lys)" "" "0000966772" "00018747" "30" "3788" "0" "3788" "0" "c.3788A>T" "r.(?)" "p.(Asp1263Val)" "" "0000966773" "00018747" "30" "4005" "0" "4005" "0" "c.4005G>A" "r.(?)" "p.(=)" "" "0000966774" "00018747" "30" "4354" "0" "4354" "0" "c.4354C>T" "r.(?)" "p.(Arg1452Cys)" "" "0000966775" "00018747" "30" "4594" "0" "4594" "0" "c.4594C>A" "r.(?)" "p.(=)" "" "0000966776" "00018747" "30" "4634" "0" "4634" "0" "c.4634C>G" "r.(?)" "p.(Pro1545Arg)" "" "0000966778" "00018747" "30" "5091" "0" "5091" "0" "c.5091C>T" "r.(?)" "p.(Arg1697=)" "" "0000980080" "00018747" "30" "17" "0" "17" "0" "c.17C>A" "r.(?)" "p.(Pro6His)" "" "0000980081" "00018747" "30" "175" "-6" "175" "-6" "c.175-6C>T" "r.(=)" "p.(=)" "" "0000980082" "00018747" "30" "273" "5" "273" "5" "c.273+5G>A" "r.spl?" "p.?" "" "0000980083" "00018747" "30" "922" "0" "922" "0" "c.922T>C" "r.(?)" "p.(Phe308Leu)" "" "0000980084" "00018747" "30" "1152" "0" "1152" "0" "c.1152C>T" "r.(?)" "p.(=)" "" "0000980085" "00018747" "30" "1232" "0" "1232" "0" "c.1232C>T" "r.(?)" "p.(Pro411Leu)" "" "0000980086" "00018747" "30" "1356" "0" "1356" "0" "c.1356C>T" "r.(?)" "p.(=)" "" "0000980087" "00018747" "30" "1478" "0" "1478" "0" "c.1478A>G" "r.(?)" "p.(Glu493Gly)" "" "0000980088" "00018747" "50" "3127" "-5" "3127" "-5" "c.3127-5A>G" "r.spl?" "p.?" "" "0000980089" "00018747" "30" "3967" "0" "3967" "0" "c.3967C>A" "r.(?)" "p.(Leu1323Ile)" "" "0000980090" "00018747" "30" "4021" "0" "4021" "0" "c.4021G>C" "r.(?)" "p.(Gly1341Arg)" "" "0000980091" "00018747" "50" "4232" "0" "4232" "0" "c.4232G>A" "r.(?)" "p.(Arg1411Gln)" "" "0000980092" "00018747" "50" "4399" "0" "4399" "0" "c.4399T>G" "r.(?)" "p.(Ser1467Ala)" "" "0000980093" "00018747" "50" "5297" "0" "5297" "0" "c.5297C>G" "r.(?)" "p.(Thr1766Ser)" "" "0000980094" "00018747" "30" "5460" "9" "5460" "9" "c.5460+9C>T" "r.(=)" "p.(=)" "" "0000980095" "00018747" "90" "5713" "0" "5713" "0" "c.5713G>A" "r.(?)" "p.(Glu1905Lys)" "" "0000999764" "00018747" "30" "17" "0" "17" "0" "c.17C>T" "r.(?)" "p.(Pro6Leu)" "" "0000999765" "00018747" "30" "23" "0" "23" "0" "c.23A>C" "r.(?)" "p.(His8Pro)" "" "0000999766" "00018747" "30" "900" "0" "900" "0" "c.900C>A" "r.(?)" "p.(Phe300Leu)" "" "0000999767" "00018747" "30" "1100" "0" "1100" "0" "c.1100C>T" "r.(?)" "p.(Pro367Leu)" "" "0000999768" "00018747" "30" "1400" "0" "1400" "0" "c.1400G>A" "r.(?)" "p.(Arg467Gln)" "" "0000999769" "00018747" "50" "1532" "0" "1532" "0" "c.1532G>A" "r.(?)" "p.(Arg511His)" "" "0000999770" "00018747" "30" "1939" "0" "1939" "0" "c.1939C>A" "r.(?)" "p.(Pro647Thr)" "" "0000999771" "00018747" "30" "2005" "0" "2005" "0" "c.2005G>A" "r.(?)" "p.(Val669Met)" "" "0000999772" "00018747" "50" "2371" "0" "2371" "0" "c.2371G>T" "r.(?)" "p.(Ala791Ser)" "" "0000999773" "00018747" "30" "2402" "0" "2402" "0" "c.2402C>T" "r.(?)" "p.(Ala801Val)" "" "0000999774" "00018747" "50" "2953" "0" "2953" "0" "c.2953A>G" "r.(?)" "p.(Thr985Ala)" "" "0000999775" "00018747" "30" "3161" "0" "3166" "0" "c.3161_3166del" "r.(?)" "p.(Ala1054_Glu1055del)" "" "0000999776" "00018747" "30" "3506" "0" "3506" "0" "c.3506A>G" "r.(?)" "p.(Asp1169Gly)" "" "0000999777" "00018747" "30" "3701" "0" "3701" "0" "c.3701A>G" "r.(?)" "p.(Glu1234Gly)" "" "0000999778" "00018747" "30" "3706" "0" "3706" "0" "c.3706G>A" "r.(?)" "p.(Ala1236Thr)" "" "0000999779" "00018747" "90" "3972" "0" "3973" "0" "c.3972_3973del" "r.(?)" "p.(Cys1324Trpfs*49)" "" "0000999780" "00018747" "50" "4024" "0" "4024" "0" "c.4024G>A" "r.(?)" "p.(Gly1342Arg)" "" "0000999781" "00018747" "30" "4355" "0" "4355" "0" "c.4355G>C" "r.(?)" "p.(Arg1452Pro)" "" "0000999782" "00018747" "30" "4573" "0" "4573" "0" "c.4573C>T" "r.(?)" "p.(Arg1525Trp)" "" "0001014921" "00018747" "50" "138" "0" "138" "0" "c.138A>T" "r.(?)" "p.(Lys46Asn)" "" "0001014922" "00018747" "30" "225" "0" "225" "0" "c.225G>A" "r.(?)" "p.(=)" "" "0001014923" "00018747" "30" "957" "0" "957" "0" "c.957C>T" "r.(?)" "p.(=)" "" "0001014924" "00018747" "30" "1803" "0" "1803" "0" "c.1803G>A" "r.(?)" "p.(=)" "" "0001014925" "00018747" "30" "2672" "0" "2672" "0" "c.2672G>C" "r.(?)" "p.(Arg891Pro)" "" "0001014926" "00018747" "30" "2760" "0" "2760" "0" "c.2760C>G" "r.(?)" "p.(Asp920Glu)" "" "0001014927" "00018747" "30" "3624" "0" "3624" "0" "c.3624C>T" "r.(?)" "p.(=)" "" "0001014928" "00018747" "30" "3782" "-16" "3782" "-16" "c.3782-16G>C" "r.(=)" "p.(=)" "" "0001014929" "00018747" "30" "4854" "0" "4854" "0" "c.4854A>G" "r.(?)" "p.(=)" "" "0001026113" "00018747" "30" "637" "0" "637" "0" "c.637A>G" "r.(?)" "p.(Ile213Val)" "" "0001026114" "00018747" "30" "2402" "0" "2402" "0" "c.2402C>T" "r.(?)" "p.(Ala801Val)" "" "0001039013" "00018747" "30" "273" "5" "273" "5" "c.273+5G>A" "r.spl?" "p.?" "" "0001039014" "00018747" "30" "1267" "0" "1267" "0" "c.1267C>T" "r.(?)" "p.(Arg423Cys)" "" "0001039015" "00018747" "30" "1282" "0" "1282" "0" "c.1282T>C" "r.(?)" "p.(Phe428Leu)" "" "0001039016" "00018747" "50" "1282" "0" "1282" "0" "c.1282T>C" "r.(?)" "p.(Phe428Leu)" "" "0001039017" "00018747" "50" "1298" "0" "1298" "0" "c.1298C>T" "r.(?)" "p.(Ala433Val)" "" "0001039018" "00018747" "30" "1654" "0" "1654" "0" "c.1654C>T" "r.(?)" "p.(Pro552Ser)" "" "0001039019" "00018747" "50" "2293" "0" "2293" "0" "c.2293G>A" "r.(?)" "p.(Gly765Ser)" "" "0001039020" "00018747" "30" "2453" "0" "2453" "0" "c.2453G>A" "r.(?)" "p.(Arg818Gln)" "" "0001039021" "00018747" "30" "2705" "0" "2705" "0" "c.2705G>A" "r.(?)" "p.(Arg902Gln)" "" "0001039022" "00018747" "30" "2731" "0" "2731" "0" "c.2731G>T" "r.(?)" "p.(Val911Leu)" "" "0001039023" "00018747" "30" "4114" "0" "4114" "0" "c.4114C>A" "r.(?)" "p.(Pro1372Thr)" "" "0001039024" "00018747" "30" "4574" "0" "4574" "0" "c.4574G>A" "r.(?)" "p.(Arg1525Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{variantid}}" "0000313173" "0000694907" "0000313174" "0000694908" "0000313175" "0000694909" "0000313176" "0000694910" "0000313177" "0000694911" "0000313178" "0000694912" "0000313179" "0000694913" "0000313180" "0000694914" "0000313181" "0000694915" "0000313182" "0000694916" "0000313183" "0000694917" "0000313184" "0000694918" "0000313185" "0000694919" "0000313186" "0000694920" "0000328130" "0000872205" "0000392996" "0000823563"