### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CDKN1B) # 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}}" "CDKN1B" "cyclin-dependent kinase inhibitor 1B (p27, Kip1)" "12" "p13.1-p12" "unknown" "NG_016341.1" "UD_132085360613" "" "https://www.LOVD.nl/CDKN1B" "" "1" "1785" "1027" "600778" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2016-12-10 13:56:07" "00000" "2026-01-20 18:57:21" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00004874" "CDKN1B" "cyclin-dependent kinase inhibitor 1B (p27, Kip1)" "001" "NM_004064.3" "" "NP_004055.1" "" "" "" "-472" "1941" "597" "12870302" "12875305" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "" "" "00091" "CRC" "cancer, colorectal, susceptibility to (CRC)" "AD;SMu" "114500" "" "" "" "00001" "2012-12-07 10:49:46" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02978" "MEN4" "neoplasia, endocrine, multiple, type IV (MEN-4)" "AD" "610755" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CDKN1B" "02978" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00090501" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090502" "" "" "" "2" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090503" "" "" "" "1" "" "01816" "" "gene panel study on controls" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090504" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090505" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090506" "" "" "" "1" "" "01816" "" "gene panel study on controls" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090507" "" "" "" "4" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00249440" "" "" "" "1" "" "03006" "" "" "" "no" "India" "" "0" "" "" "" "" "00290636" "" "" "" "25" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00090501" "00091" "00090502" "00091" "00090503" "00000" "00090504" "00091" "00090505" "00091" "00090506" "00000" "00090507" "00091" "00249440" "02978" "00290636" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00091, 00198, 02978 ## 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/Cysts}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Eye/Retina}}" "{{Phenotype/Neoplasm}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000188405" "02978" "00249440" "03006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000090646" "00090501" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090647" "00090502" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090648" "00090503" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090649" "00090504" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090650" "00090505" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090651" "00090506" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090652" "00090507" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000250547" "00249440" "1" "03006" "03006" "2013-02-18 16:54:30" "00006" "2013-02-19 22:15:25" "PCR;SEQ" "DNA" "" "" "0000291804" "00290636" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000090646" "CDKN1B" "0000090647" "CDKN1B" "0000090648" "CDKN1B" "0000090649" "CDKN1B" "0000090650" "CDKN1B" "0000090651" "CDKN1B" "0000090652" "CDKN1B" "0000250547" "CDKN1B" ## 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 = 43 "{{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}}" "0000148775" "1" "50" "12" "12870979" "12870979" "subst" "4.06062E-6" "01816" "CDKN1B_000005" "g.12870979C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.12718045C>T" "" "VUS" "" "0000148776" "1" "50" "12" "12871129" "12871129" "subst" "0.000542326" "01816" "CDKN1B_000006" "g.12871129T>C" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.12718195T>C" "" "VUS" "" "0000148777" "1" "50" "12" "12871170" "12871170" "subst" "0.00041559" "01816" "CDKN1B_000002" "g.12871170C>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.12718236C>A" "" "VUS" "" "0000148778" "1" "50" "12" "12871186" "12871186" "subst" "0" "01816" "CDKN1B_000003" "g.12871186C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.12718252C>T" "" "VUS" "" "0000148779" "1" "50" "12" "12871198" "12871198" "subst" "2.91497E-5" "01816" "CDKN1B_000004" "g.12871198C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.12718264C>T" "" "VUS" "" "0000148780" "1" "50" "12" "12871860" "12871860" "subst" "0.000857375" "01816" "CDKN1B_000016" "g.12871860C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.12718926C>T" "" "VUS" "" "0000148781" "1" "50" "12" "12871860" "12871860" "subst" "0.000857375" "01816" "CDKN1B_000016" "g.12871860C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.12718926C>T" "" "VUS" "" "0000266620" "0" "50" "12" "12871056" "12871056" "subst" "8.53443E-5" "02325" "CDKN1B_000007" "g.12871056C>T" "" "" "" "CDKN1B(NM_004064.5):c.283C>T (p.P95S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12718122C>T" "" "VUS" "" "0000266621" "0" "30" "12" "12871067" "12871067" "subst" "4.8794E-5" "02325" "CDKN1B_000008" "g.12871067C>T" "" "" "" "CDKN1B(NM_004064.4):c.294C>T (p.A98=), CDKN1B(NM_004064.5):c.294C>T (p.A98=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12718133C>T" "" "likely benign" "" "0000266622" "0" "30" "12" "12871199" "12871199" "subst" "0.00358047" "02325" "CDKN1B_000011" "g.12871199G>A" "" "" "" "CDKN1B(NM_004064.4):c.426G>A (p.T142=), CDKN1B(NM_004064.5):c.426G>A (p.T142=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12718265G>A" "" "likely benign" "" "0000268085" "0" "30" "12" "12871199" "12871199" "subst" "0.00358047" "02329" "CDKN1B_000011" "g.12871199G>A" "" "" "" "CDKN1B(NM_004064.4):c.426G>A (p.T142=), CDKN1B(NM_004064.5):c.426G>A (p.T142=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12718265G>A" "" "likely benign" "" "0000269937" "0" "10" "12" "12871099" "12871099" "subst" "0.259582" "02326" "CDKN1B_000009" "g.12871099T>G" "" "" "" "CDKN1B(NM_004064.4):c.326T>G (p.V109G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12718165T>G" "" "benign" "" "0000269938" "0" "30" "12" "12871199" "12871199" "subst" "0.00358047" "02326" "CDKN1B_000011" "g.12871199G>A" "" "" "" "CDKN1B(NM_004064.4):c.426G>A (p.T142=), CDKN1B(NM_004064.5):c.426G>A (p.T142=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12718265G>A" "" "likely benign" "" "0000273064" "0" "30" "12" "12871067" "12871067" "subst" "4.8794E-5" "01943" "CDKN1B_000008" "g.12871067C>T" "" "" "" "CDKN1B(NM_004064.4):c.294C>T (p.A98=), CDKN1B(NM_004064.5):c.294C>T (p.A98=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12718133C>T" "" "likely benign" "" "0000547102" "0" "30" "12" "12870797" "12870797" "subst" "4.07641E-5" "02329" "CDKN1B_000012" "g.12870797C>T" "" "" "" "CDKN1B(NM_004064.5):c.24C>T (p.N8=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12717863C>T" "" "likely benign" "" "0000547103" "0" "50" "12" "12871056" "12871056" "subst" "8.53443E-5" "02327" "CDKN1B_000007" "g.12871056C>T" "" "" "" "CDKN1B(NM_004064.5):c.283C>T (p.P95S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12718122C>T" "" "VUS" "" "0000547104" "0" "90" "12" "12871186" "12871187" "ins" "0" "02329" "CDKN1B_000013" "g.12871186_12871187insT" "" "" "" "CDKN1B(NM_004064.5):c.413_414insT (p.D139Gfs*66)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12718252_12718253insT" "" "pathogenic" "" "0000547106" "0" "50" "12" "12871853" "12871853" "subst" "0" "02326" "CDKN1B_000015" "g.12871853G>C" "" "" "" "CDKN1B(NM_004064.4):c.570G>C (p.K190N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12718919G>C" "" "VUS" "" "0000547107" "0" "30" "12" "12871860" "12871860" "subst" "0.000857375" "01804" "CDKN1B_000016" "g.12871860C>T" "" "" "" "CDKN1B(NM_004064.3):c.577C>T (p.(Leu193Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12718926C>T" "" "likely benign" "" "0000579852" "0" "55" "12" "12870701" "12870701" "subst" "0" "03006" "CDKN1B_000001" "g.12870701G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.12717767G>A" "" "VUS" "" "0000648493" "1" "30" "12" "12871050" "12871050" "subst" "0.000426632" "03575" "CDKN1B_000017" "g.12871050C>T" "25/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "25 heterozygous, no homozygous; {DB:CLININrs140167393}" "Germline" "" "rs140167393" "0" "" "" "g.12718116C>T" "" "likely benign" "" "0000657037" "0" "30" "12" "12871129" "12871129" "subst" "0.000542326" "01804" "CDKN1B_000006" "g.12871129T>C" "" "" "" "CDKN1B(NM_004064.3):c.356T>C (p.(Ile119Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12718195T>C" "" "likely benign" "" "0000805610" "0" "50" "12" "12871203" "12871203" "subst" "0" "01804" "CDKN1B_000018" "g.12871203T>G" "" "" "" "CDKN1B(NM_004064.3):c.430T>G (p.(Leu144Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890405" "0" "30" "12" "12871139" "12871139" "subst" "3.69522E-5" "02329" "CDKN1B_000019" "g.12871139G>C" "" "" "" "CDKN1B(NM_004064.5):c.366G>C (p.P122=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890406" "0" "50" "12" "12871180" "12871180" "subst" "7.42801E-5" "01804" "CDKN1B_000020" "g.12871180A>G" "" "" "" "CDKN1B(NM_004064.3):c.407A>G (p.(Asp136Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913793" "0" "90" "12" "12871002" "12871002" "subst" "0" "02325" "CDKN1B_000021" "g.12871002C>T" "" "" "" "CDKN1B(NM_004064.5):c.229C>T (p.Q77*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000925586" "0" "30" "12" "12871050" "12871050" "subst" "0.000426632" "02326" "CDKN1B_000017" "g.12871050C>T" "" "" "" "CDKN1B(NM_004064.4):c.277C>T (p.R93W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949891" "0" "30" "12" "12871170" "12871170" "subst" "0.00041559" "02329" "CDKN1B_000002" "g.12871170C>A" "" "" "" "CDKN1B(NM_004064.5):c.397C>A (p.P133T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949892" "0" "50" "12" "12871869" "12871869" "subst" "8.12843E-6" "01804" "CDKN1B_000022" "g.12871869C>T" "" "" "" "CDKN1B(NM_004064.3):c.586C>T (p.(Arg196Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966800" "0" "30" "12" "12871129" "12871129" "subst" "0.000542326" "02327" "CDKN1B_000006" "g.12871129T>C" "" "" "" "CDKN1B(NM_004064.3):c.356T>C (p.(Ile119Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980124" "0" "50" "12" "12870898" "12870898" "subst" "7.71542E-5" "01804" "CDKN1B_000023" "g.12870898C>T" "" "" "" "CDKN1B(NM_004064.5):c.125C>T (p.(Thr42Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980125" "0" "50" "12" "12870989" "12870989" "subst" "3.65461E-5" "01804" "CDKN1B_000024" "g.12870989C>T" "" "" "" "CDKN1B(NM_004064.5):c.216C>T (p.(Gly72=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980126" "0" "30" "12" "12871199" "12871199" "subst" "0.00358047" "02327" "CDKN1B_000011" "g.12871199G>A" "" "" "" "CDKN1B(NM_004064.4):c.426G>A (p.T142=), CDKN1B(NM_004064.5):c.426G>A (p.T142=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999823" "0" "50" "12" "12871876" "12871876" "subst" "0" "02329" "CDKN1B_000025" "g.12871876C>A" "" "" "" "CDKN1B(NM_004064.5):c.593C>A (p.T198K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039068" "0" "50" "12" "12871036" "12871036" "subst" "0" "01804" "CDKN1B_000026" "g.12871036A>T" "" "" "" "CDKN1B(NM_004064.5):c.263A>T (p.(Tyr88Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001047228" "0" "30" "12" "12873932" "12873932" "subst" "0" "03779" "CDKN1B_000028" "g.12873932C>T" "" "" "" "" "" "Unknown" "" "rs4251695" "0" "" "" "" "" "likely benign" "" "0001047258" "0" "30" "12" "12873906" "12873906" "subst" "0" "03779" "CDKN1B_000027" "g.12873906A>G" "" "" "" "" "" "Unknown" "" "rs76967889" "0" "" "" "" "" "likely benign" "" "0001049131" "0" "30" "12" "12871135" "12871135" "subst" "3.28699E-5" "03779" "CDKN1B_000029" "g.12871135C>T" "" "" "" "" "" "Unknown" "" "rs201685429" "0" "" "" "" "" "likely benign" "" "0001049132" "0" "30" "12" "12871199" "12871199" "subst" "0.00358047" "03779" "CDKN1B_000011" "g.12871199G>A" "" "" "" "" "" "Unknown" "" "rs149775942" "0" "" "" "" "" "likely benign" "" "0001054242" "0" "50" "12" "12870804" "12870804" "subst" "4.07276E-5" "01804" "CDKN1B_000030" "g.12870804C>T" "" "" "" "CDKN1B(NM_004064.5):c.31C>T (p.(Pro11Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001062695" "0" "10" "12" "12870938" "12870938" "subst" "0.00304541" "03779" "CDKN1B_000031" "g.12870938G>A" "" "" "" "" "" "Unknown" "" "rs16908375" "0" "" "" "" "" "benign" "" "0001065691" "0" "30" "12" "12870797" "12870797" "subst" "4.07641E-5" "02327" "CDKN1B_000012" "g.12870797C>T" "" "" "" "CDKN1B(NM_004064.5):c.24C>T (p.N8=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001065692" "0" "30" "12" "12871129" "12871129" "subst" "0.000542326" "02325" "CDKN1B_000006" "g.12871129T>C" "" "" "" "CDKN1B(NM_004064.3):c.356T>C (p.(Ile119Thr))" "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 CDKN1B ## Count = 43 "{{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}}" "0000148775" "00004874" "00" "206" "0" "206" "0" "c.206C>T" "r.(?)" "p.(Pro69Leu)" "" "0000148776" "00004874" "00" "356" "0" "356" "0" "c.356T>C" "r.(?)" "p.(Ile119Thr)" "" "0000148777" "00004874" "00" "397" "0" "397" "0" "c.397C>A" "r.(?)" "p.(Pro133Thr)" "" "0000148778" "00004874" "00" "413" "0" "413" "0" "c.413C>T" "r.(?)" "p.(Ser138Leu)" "" "0000148779" "00004874" "00" "425" "0" "425" "0" "c.425C>T" "r.(?)" "p.(Thr142Met)" "" "0000148780" "00004874" "00" "577" "0" "577" "0" "c.577C>T" "r.(?)" "p.(Leu193Phe)" "" "0000148781" "00004874" "00" "577" "0" "577" "0" "c.577C>T" "r.(?)" "p.(Leu193Phe)" "" "0000266620" "00004874" "50" "283" "0" "283" "0" "c.283C>T" "r.(?)" "p.(Pro95Ser)" "" "0000266621" "00004874" "30" "294" "0" "294" "0" "c.294C>T" "r.(?)" "p.(Ala98=)" "" "0000266622" "00004874" "30" "426" "0" "426" "0" "c.426G>A" "r.(?)" "p.(Thr142=)" "" "0000268085" "00004874" "30" "426" "0" "426" "0" "c.426G>A" "r.(?)" "p.(Thr142=)" "" "0000269937" "00004874" "10" "326" "0" "326" "0" "c.326T>G" "r.(?)" "p.(Val109Gly)" "" "0000269938" "00004874" "30" "426" "0" "426" "0" "c.426G>A" "r.(?)" "p.(Thr142=)" "" "0000273064" "00004874" "30" "294" "0" "294" "0" "c.294C>T" "r.(?)" "p.(Ala98=)" "" "0000547102" "00004874" "30" "24" "0" "24" "0" "c.24C>T" "r.(?)" "p.(Asn8=)" "" "0000547103" "00004874" "50" "283" "0" "283" "0" "c.283C>T" "r.(?)" "p.(Pro95Ser)" "" "0000547104" "00004874" "90" "413" "0" "414" "0" "c.413_414insT" "r.(?)" "p.(Asp139GlyfsTer66)" "" "0000547106" "00004874" "50" "570" "0" "570" "0" "c.570G>C" "r.(?)" "p.(Lys190Asn)" "" "0000547107" "00004874" "30" "577" "0" "577" "0" "c.577C>T" "r.(?)" "p.(Leu193Phe)" "" "0000579852" "00004874" "55" "-73" "0" "-73" "0" "c.-73G>A" "r.(?)" "p.(=)" "1" "0000648493" "00004874" "30" "277" "0" "277" "0" "c.277C>T" "r.(?)" "p.(Arg93Trp)" "" "0000657037" "00004874" "30" "356" "0" "356" "0" "c.356T>C" "r.(?)" "p.(Ile119Thr)" "" "0000805610" "00004874" "50" "430" "0" "430" "0" "c.430T>G" "r.(?)" "p.(Leu144Val)" "" "0000890405" "00004874" "30" "366" "0" "366" "0" "c.366G>C" "r.(?)" "p.(Pro122=)" "" "0000890406" "00004874" "50" "407" "0" "407" "0" "c.407A>G" "r.(?)" "p.(Asp136Gly)" "" "0000913793" "00004874" "90" "229" "0" "229" "0" "c.229C>T" "r.(?)" "p.(Gln77*)" "" "0000925586" "00004874" "30" "277" "0" "277" "0" "c.277C>T" "r.(?)" "p.(Arg93Trp)" "" "0000949891" "00004874" "30" "397" "0" "397" "0" "c.397C>A" "r.(?)" "p.(Pro133Thr)" "" "0000949892" "00004874" "50" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Arg196Cys)" "" "0000966800" "00004874" "30" "356" "0" "356" "0" "c.356T>C" "r.(?)" "p.(Ile119Thr)" "" "0000980124" "00004874" "50" "125" "0" "125" "0" "c.125C>T" "r.(?)" "p.(Thr42Ile)" "" "0000980125" "00004874" "50" "216" "0" "216" "0" "c.216C>T" "r.(?)" "p.(=)" "" "0000980126" "00004874" "30" "426" "0" "426" "0" "c.426G>A" "r.(?)" "p.(Thr142=)" "" "0000999823" "00004874" "50" "593" "0" "593" "0" "c.593C>A" "r.(?)" "p.(Thr198Lys)" "" "0001039068" "00004874" "50" "263" "0" "263" "0" "c.263A>T" "r.(?)" "p.(Tyr88Phe)" "" "0001047228" "00004874" "30" "606" "-38" "606" "-38" "c.*9-38C>T" "r.(?)" "p.(?)" "" "0001047258" "00004874" "30" "606" "-64" "606" "-64" "c.*9-64A>G" "r.(?)" "p.(?)" "" "0001049131" "00004874" "30" "362" "0" "362" "0" "c.362C>T" "r.(?)" "p.(Ala121Val)" "" "0001049132" "00004874" "30" "426" "0" "426" "0" "c.426G>A" "r.(?)" "p.(Thr142=)" "" "0001054242" "00004874" "50" "31" "0" "31" "0" "c.31C>T" "r.(?)" "p.(Pro11Ser)" "" "0001062695" "00004874" "10" "165" "0" "165" "0" "c.165G>A" "r.(?)" "p.(Ala55=)" "" "0001065691" "00004874" "30" "24" "0" "24" "0" "c.24C>T" "r.(?)" "p.(Asn8=)" "" "0001065692" "00004874" "30" "356" "0" "356" "0" "c.356T>C" "r.(?)" "p.(Ile119Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000090646" "0000148775" "0000090647" "0000148776" "0000090648" "0000148777" "0000090649" "0000148778" "0000090650" "0000148779" "0000090651" "0000148780" "0000090652" "0000148781" "0000250547" "0000579852" "0000291804" "0000648493"