### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MCM9) # 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}}" "MCM9" "minichromosome maintenance complex component 9" "6" "q22.31" "unknown" "NC_000006.11" "UD_133034059334" "" "http://www.LOVD.nl/MCM9" "" "1" "21484" "254394" "610098" "1" "1" "0" "1" "aliad MCMDC1" "" "g" "http://databases.lovd.nl/shared/refseq/MCM9_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-02-14 15:53:02" "00000" "2025-11-01 13:22:20" ## 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}}" "00011914" "MCM9" "transcript variant 2" "002" "NM_153255.4" "" "NP_694987.1" "" "" "" "-287" "2203" "1176" "119256327" "119231762" "" "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}}" "04186" "ODG4" "dysgenesis, ovarian, type 4 (ODG-4)" "AR" "616185" "" "" "" "00006" "2015-02-14 15:49:50" "00006" "2021-12-10 21:51:32" "04280" "FAP" "adenomatous polyposis, familial (FAP)" "" "" "" "" "" "00006" "2015-06-06 23:26:41" "" "" "05464" "HNPCC (Lynch)" "cancer, colorectal, nonpolyposis, hereditary (Lynch syndrome)" "" "" "" "" "" "00006" "2018-08-02 08:56:34" "00006" "2025-07-24 09:00:47" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MCM9" "04186" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00239025" "" "" "" "1" "" "03308" "" "" "M" "no" "Spain" "50y" "0" "" "" "European Non-Finish" "" "00301686" "" "" "" "1" "" "03308" "" "" "?" "?" "Spain" ">44y" "" "" "" "Non-finish European" "" "00301687" "" "" "" "1" "" "03308" "" "" "?" "?" "Spain" "22y" "" "" "" "Non-finish European" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00239025" "04280" "00301686" "05464" "00301687" "05464" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 04186, 04280, 05464 ## Count = 3 "{{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}}" "0000179365" "04280" "00239025" "03308" "Unknown" "" "HP:0005227" "" "50y" "" "" "" "" "" "" "" "" "" "" "" "" "0000228786" "05464" "00301686" "03308" "Unknown" "44y" "" "44y" "44y" "" "" "MSS" "" "" "" "" "" "" "" "CRC (44y)" "" "0000228787" "05464" "00301687" "03308" "Unknown" "" "Colorectal Cancer (25y)\r\n2nd degree relatives: CRC (76y); Brain Cancer (61y); Breast Cancer (31y; 64y); Breast Cancer (54y)\r\nNon-carrier: Father, cancer-free (56)\r\nCarrier: Mother, cancer-free (54)" "" "" "" "" "MSS" "" "" "" "" "" "" "" "Ovarian cancer (22y)" "" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000240133" "00239025" "1" "03308" "03308" "2019-05-31 09:39:08" "" "" "SEQ" "DNA" "" "" "0000302811" "00301686" "1" "03308" "03308" "2020-05-20 10:50:22" "" "" "SEQ" "DNA" "Blood" "" "0000302812" "00301687" "1" "03308" "03308" "2020-05-20 10:55:40" "" "" "SEQ" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000240133" "MCM9" "0000302811" "MCM9" "0000302812" "MCM9" ## 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 = 73 "{{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}}" "0000291610" "0" "50" "6" "119147356" "119147356" "subst" "0.000641875" "01943" "ASF1A_000002" "g.119147356G>C" "" "" "" "MCM9(NM_017696.2):c.1915C>G (p.L639V), MCM9(NM_017696.3):c.1915C>G (p.L639V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.118826193G>C" "" "VUS" "" "0000484140" "0" "50" "6" "119234579" "119234579" "subst" "0.00354097" "03308" "MCM9_000001" "g.119234579T>C" "" "" "" "" "" "Germline" "?" "rs78231991" "0" "" "" "g.118913414T>C" "" "likely benign" "" "0000527023" "0" "30" "6" "119136853" "119136853" "subst" "0.000529998" "01943" "ASF1A_000001" "g.119136853C>T" "" "" "" "MCM9(NM_017696.2):c.2566G>A (p.A856T), MCM9(NM_017696.3):c.2566G>A (p.A856T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118815690C>T" "" "likely benign" "" "0000609959" "0" "50" "6" "119150244" "119150244" "subst" "2.08232E-5" "01943" "ASF1A_000005" "g.119150244G>A" "" "" "" "MCM9(NM_017696.2):c.1495C>T (p.R499C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118829081G>A" "" "VUS" "" "0000609960" "0" "50" "6" "119238906" "119238906" "subst" "5.28752E-5" "02325" "ASF1A_000007" "g.119238906C>T" "" "" "" "MCM9(NM_017696.3):c.724G>A (p.G242R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118917741C>T" "" "VUS" "" "0000621624" "0" "10" "6" "119238904" "119238904" "subst" "0.0232545" "01943" "ASF1A_000006" "g.119238904C>T" "" "" "" "MCM9(NM_017696.2):c.726G>A (p.G242=, p.(Gly242=)), MCM9(NM_017696.3):c.726G>A (p.G242=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118917739C>T" "" "benign" "" "0000655475" "0" "30" "6" "119177587" "119177587" "subst" "0.00355007" "01943" "ASF1A_000008" "g.119177587C>T" "" "" "" "MCM9(NM_017696.2):c.1272G>A (p.R424=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118856424C>T" "" "likely benign" "" "0000666168" "0" "50" "6" "119245170" "119245170" "subst" "8.12559E-6" "03308" "MCM9_000002" "g.119245170G>A" "" "" "" "" "" "Germline" "?" "rs569482138" "0" "" "" "g.118924005G>A" "" "VUS" "" "0000666169" "0" "30" "6" "119234579" "119234579" "subst" "0.00354097" "03308" "MCM9_000001" "g.119234579T>C" "" "" "" "" "" "Germline" "?" "rs78231991" "0" "" "" "g.118913414T>C" "610456" "likely benign" "" "0000689611" "0" "30" "6" "119137154" "119137154" "subst" "0" "01943" "ASF1A_000009" "g.119137154A>C" "" "" "" "MCM9(NM_017696.2):c.2265T>G (p.P755=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802283" "0" "10" "6" "119136759" "119136759" "subst" "0.133965" "02330" "ASF1A_000010" "g.119136759A>C" "" "" "" "MCM9(NM_017696.3):c.2660T>G (p.M887R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000802284" "0" "10" "6" "119137011" "119137011" "subst" "0.0750472" "02330" "ASF1A_000011" "g.119137011G>A" "" "" "" "MCM9(NM_017696.3):c.2408C>T (p.P803L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000802285" "0" "30" "6" "119137144" "119137144" "subst" "0" "01943" "ASF1A_000012" "g.119137144C>T" "" "" "" "MCM9(NM_017696.2):c.2275G>A (p.V759I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802286" "0" "10" "6" "119137147" "119137147" "subst" "0.0279363" "02330" "ASF1A_000013" "g.119137147T>C" "" "" "" "MCM9(NM_017696.2):c.2272A>G (p.(Thr758Ala)), MCM9(NM_017696.3):c.2272A>G (p.T758A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000802287" "0" "10" "6" "119149149" "119149149" "subst" "0.86642" "02330" "ASF1A_000014" "g.119149149C>G" "" "" "" "MCM9(NM_017696.3):c.1673G>C (p.C558S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000802288" "0" "50" "6" "119150363" "119150363" "subst" "0" "01943" "ASF1A_000015" "g.119150363G>A" "" "" "" "MCM9(NM_017696.2):c.1376C>T (p.P459L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802289" "0" "50" "6" "119150381" "119150381" "subst" "0" "01943" "ASF1A_000016" "g.119150381A>C" "" "" "" "MCM9(NM_017696.2):c.1358T>G (p.I453S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802290" "0" "10" "6" "119238904" "119238904" "subst" "0.0232545" "02330" "ASF1A_000006" "g.119238904C>T" "" "" "" "MCM9(NM_017696.2):c.726G>A (p.G242=, p.(Gly242=)), MCM9(NM_017696.3):c.726G>A (p.G242=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851043" "0" "30" "6" "119136518" "119136518" "subst" "0.00720828" "02330" "ASF1A_000019" "g.119136518C>T" "" "" "" "MCM9(NM_017696.3):c.2901G>A (p.P967=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851044" "0" "10" "6" "119136530" "119136530" "subst" "0.0103765" "02330" "ASF1A_000020" "g.119136530G>A" "" "" "" "MCM9(NM_017696.3):c.2889C>T (p.D963=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851045" "0" "10" "6" "119137445" "119137445" "subst" "0.0079293" "02330" "ASF1A_000024" "g.119137445C>A" "" "" "" "MCM9(NM_017696.3):c.1974G>T (p.Q658H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851046" "0" "10" "6" "119245024" "119245024" "subst" "0.0576531" "02330" "ASF1A_000025" "g.119245024C>T" "" "" "" "MCM9(NM_017696.3):c.573G>A (p.S191=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860129" "0" "30" "6" "119136088" "119136088" "subst" "4.18708E-5" "01943" "ASF1A_000017" "g.119136088C>T" "" "" "" "MCM9(NM_017696.2):c.3331G>A (p.E1111K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860130" "0" "30" "6" "119136133" "119136133" "subst" "0.00241559" "02330" "ASF1A_000018" "g.119136133T>C" "" "" "" "MCM9(NM_017696.3):c.3286A>G (p.M1096V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860131" "0" "10" "6" "119136726" "119136726" "subst" "0.0106565" "01804" "ASF1A_000021" "g.119136726G>A" "" "" "" "MCM9(NM_017696.2):c.2693C>T (p.(Ser898Phe)), MCM9(NM_017696.3):c.2693C>T (p.S898F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860132" "0" "10" "6" "119136726" "119136726" "subst" "0.0106565" "02329" "ASF1A_000021" "g.119136726G>A" "" "" "" "MCM9(NM_017696.2):c.2693C>T (p.(Ser898Phe)), MCM9(NM_017696.3):c.2693C>T (p.S898F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860133" "0" "50" "6" "119137132" "119137132" "subst" "0" "01943" "ASF1A_000022" "g.119137132G>A" "" "" "" "MCM9(NM_017696.2):c.2287C>T (p.P763S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860134" "0" "30" "6" "119137423" "119137423" "subst" "0.00508173" "02330" "ASF1A_000023" "g.119137423G>A" "" "" "" "MCM9(NM_017696.3):c.1996C>T (p.R666W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860135" "0" "30" "6" "119234579" "119234579" "subst" "0.00354097" "02330" "MCM9_000001" "g.119234579T>C" "" "" "" "MCM9(NM_017696.3):c.911A>G (p.N304S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860136" "0" "10" "6" "119238904" "119238904" "subst" "0.0232545" "02329" "ASF1A_000006" "g.119238904C>T" "" "" "" "MCM9(NM_017696.2):c.726G>A (p.G242=, p.(Gly242=)), MCM9(NM_017696.3):c.726G>A (p.G242=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860137" "0" "10" "6" "119245200" "119245200" "subst" "0.00175638" "02330" "ASF1A_000026" "g.119245200T>C" "" "" "" "MCM9(NM_017696.3):c.397A>G (p.T133A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887022" "0" "30" "6" "119136278" "119136278" "subst" "0.000207889" "02330" "ASF1A_000027" "g.119136278G>A" "" "" "" "MCM9(NM_017696.3):c.3141C>T (p.S1047=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887023" "0" "10" "6" "119137147" "119137147" "subst" "0.0279363" "01804" "ASF1A_000013" "g.119137147T>C" "" "" "" "MCM9(NM_017696.2):c.2272A>G (p.(Thr758Ala)), MCM9(NM_017696.3):c.2272A>G (p.T758A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887024" "0" "10" "6" "119238904" "119238904" "subst" "0.0232545" "01804" "ASF1A_000006" "g.119238904C>T" "" "" "" "MCM9(NM_017696.2):c.726G>A (p.G242=, p.(Gly242=)), MCM9(NM_017696.3):c.726G>A (p.G242=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887025" "0" "50" "6" "119252737" "119252737" "subst" "2.43667E-5" "02330" "ASF1A_000028" "g.119252737T>A" "" "" "" "MCM9(NM_017696.3):c.152A>T (p.N51I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924428" "0" "30" "6" "119136518" "119136518" "subst" "0.00720828" "02329" "ASF1A_000019" "g.119136518C>T" "" "" "" "MCM9(NM_017696.3):c.2901G>A (p.P967=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924429" "0" "30" "6" "119136530" "119136530" "subst" "0.0103765" "02329" "ASF1A_000020" "g.119136530G>A" "" "" "" "MCM9(NM_017696.3):c.2889C>T (p.D963=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929139" "0" "50" "6" "119136718" "119136718" "subst" "0" "02325" "ASF1A_000029" "g.119136718G>A" "" "" "" "MCM9(NM_017696.3):c.2701C>T (p.Q901*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929140" "0" "30" "6" "119234579" "119234579" "subst" "0.00354097" "02329" "MCM9_000001" "g.119234579T>C" "" "" "" "MCM9(NM_017696.3):c.911A>G (p.N304S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948629" "0" "30" "6" "119137275" "119137275" "subst" "0.00132094" "02329" "ASF1A_000030" "g.119137275T>A" "" "" "" "MCM9(NM_017696.3):c.2144A>T (p.D715V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948630" "0" "30" "6" "119137423" "119137423" "subst" "0.00508173" "02329" "ASF1A_000023" "g.119137423G>A" "" "" "" "MCM9(NM_017696.3):c.1996C>T (p.R666W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948631" "0" "10" "6" "119137445" "119137445" "subst" "0.0079293" "02329" "ASF1A_000024" "g.119137445C>A" "" "" "" "MCM9(NM_017696.3):c.1974G>T (p.Q658H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948632" "0" "70" "6" "119149172" "119149172" "subst" "6.91391E-6" "02330" "ASF1A_000031" "g.119149172G>T" "" "" "" "MCM9(NM_001378357.1):c.1650C>A (p.Y550*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000948633" "0" "30" "6" "119150335" "119150335" "subst" "0.000284473" "02329" "ASF1A_000032" "g.119150335G>A" "" "" "" "MCM9(NM_017696.3):c.1404C>T (p.S468=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948634" "0" "50" "6" "119238890" "119238890" "subst" "8.13253E-6" "02329" "ASF1A_000033" "g.119238890C>T" "" "" "" "MCM9(NM_017696.3):c.740G>A (p.R247Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948635" "0" "70" "6" "119252737" "119252737" "subst" "2.43667E-5" "02327" "ASF1A_000028" "g.119252737T>A" "" "" "" "MCM9(NM_017696.3):c.152A>T (p.N51I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000963800" "0" "30" "6" "119136133" "119136133" "subst" "0.00241559" "02329" "ASF1A_000018" "g.119136133T>C" "" "" "" "MCM9(NM_017696.3):c.3286A>G (p.M1096V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963802" "0" "30" "6" "119136710" "119136710" "subst" "0.000274869" "02329" "ASF1A_000034" "g.119136710T>C" "" "" "" "MCM9(NM_017696.3):c.2709A>G (p.E903=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963803" "0" "50" "6" "119147356" "119147356" "subst" "0.000641875" "02329" "ASF1A_000002" "g.119147356G>C" "" "" "" "MCM9(NM_017696.2):c.1915C>G (p.L639V), MCM9(NM_017696.3):c.1915C>G (p.L639V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963804" "0" "30" "6" "119147921" "119147921" "del" "0" "02329" "ASF1A_000035" "g.119147921del" "" "" "" "MCM9(NM_017696.3):c.1815+28delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963805" "0" "10" "6" "119252564" "119252564" "subst" "0.00712236" "02329" "ASF1A_000036" "g.119252564T>C" "" "" "" "MCM9(NM_017696.3):c.304+21A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000976951" "0" "30" "6" "119252799" "119252799" "subst" "0" "02329" "ASF1A_000037" "g.119252799C>T" "" "" "" "MCM9(NM_017696.3):c.90G>A (p.K30=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995304" "0" "90" "6" "119234553" "119234553" "subst" "0" "02327" "ASF1A_000038" "g.119234553G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001014169" "0" "50" "6" "119137288" "119137288" "subst" "0" "02329" "ASF1A_000039" "g.119137288T>C" "" "" "" "MCM9(NM_017696.3):c.2131A>G (p.S711G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025163" "0" "10" "6" "119136196" "119136196" "subst" "0.00216005" "02329" "ASF1A_000040" "g.119136196G>A" "" "" "" "MCM9(NM_017696.3):c.3223C>T (p.P1075S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001025164" "0" "50" "6" "119150370" "119150370" "subst" "6.91726E-6" "02327" "ASF1A_000041" "g.119150370T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025165" "0" "30" "6" "119238739" "119238739" "subst" "2.03305E-5" "02329" "ASF1A_000042" "g.119238739G>A" "" "" "" "MCM9(NM_017696.3):c.891C>T (p.S297=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025166" "0" "50" "6" "119245082" "119245082" "subst" "0" "02329" "ASF1A_000043" "g.119245082C>A" "" "" "" "MCM9(NM_017696.3):c.515G>T (p.C172F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025167" "0" "30" "6" "119245202" "119245202" "subst" "5.69282E-5" "02329" "ASF1A_000044" "g.119245202C>T" "" "" "" "MCM9(NM_017696.3):c.395G>A (p.R132Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035430" "0" "30" "6" "119136133" "119136133" "subst" "0.00241559" "02327" "ASF1A_000018" "g.119136133T>C" "" "" "" "MCM9(NM_017696.3):c.3286A>G (p.M1096V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035431" "0" "30" "6" "119136203" "119136203" "subst" "6.93914E-6" "02327" "ASF1A_000004" "g.119136203T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035432" "0" "30" "6" "119136710" "119136710" "subst" "0.000274869" "02327" "ASF1A_000034" "g.119136710T>C" "" "" "" "MCM9(NM_017696.3):c.2709A>G (p.E903=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035433" "0" "50" "6" "119136853" "119136853" "subst" "0.000529998" "02329" "ASF1A_000001" "g.119136853C>T" "" "" "" "MCM9(NM_017696.2):c.2566G>A (p.A856T), MCM9(NM_017696.3):c.2566G>A (p.A856T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035434" "0" "30" "6" "119137275" "119137275" "subst" "0.00132094" "02327" "ASF1A_000030" "g.119137275T>A" "" "" "" "MCM9(NM_017696.3):c.2144A>T (p.D715V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035435" "0" "10" "6" "119137445" "119137445" "subst" "0.0079293" "02327" "ASF1A_000024" "g.119137445C>A" "" "" "" "MCM9(NM_017696.3):c.1974G>T (p.Q658H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001035436" "0" "50" "6" "119147356" "119147356" "subst" "0.000641875" "02327" "ASF1A_000002" "g.119147356G>C" "" "" "" "MCM9(NM_017696.2):c.1915C>G (p.L639V), MCM9(NM_017696.3):c.1915C>G (p.L639V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035437" "0" "50" "6" "119234459" "119234459" "subst" "0" "02329" "ASF1A_000045" "g.119234459C>A" "" "" "" "MCM9(NM_017696.3):c.1030+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046047" "0" "30" "6" "119136853" "119136853" "subst" "0.000529998" "02327" "ASF1A_000001" "g.119136853C>T" "" "" "" "MCM9(NM_017696.2):c.2566G>A (p.A856T), MCM9(NM_017696.3):c.2566G>A (p.A856T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046048" "0" "30" "6" "119137423" "119137423" "subst" "0.00508173" "02327" "ASF1A_000023" "g.119137423G>A" "" "" "" "MCM9(NM_017696.3):c.1996C>T (p.R666W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046049" "0" "30" "6" "119234579" "119234579" "subst" "0.00354097" "02327" "MCM9_000001" "g.119234579T>C" "" "" "" "MCM9(NM_017696.3):c.911A>G (p.N304S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046050" "0" "10" "6" "119245200" "119245200" "subst" "0.00175638" "02327" "ASF1A_000026" "g.119245200T>C" "" "" "" "MCM9(NM_017696.3):c.397A>G (p.T133A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001052478" "0" "50" "6" "119135994" "119135994" "subst" "0.000226347" "02327" "ASF1A_000046" "g.119135994T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052479" "0" "50" "6" "119252607" "119252607" "subst" "4.0702E-6" "02327" "ASF1A_000047" "g.119252607C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes MCM9 ## Count = 73 "{{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}}" "0000291610" "00011914" "50" "86609" "0" "86609" "0" "c.*85433C>G" "r.(=)" "p.(=)" "" "0000484140" "00011914" "50" "911" "0" "911" "0" "c.911A>G" "r.(?)" "p.(Asn304Ser)" "" "0000527023" "00011914" "30" "97112" "0" "97112" "0" "c.*95936G>A" "r.(=)" "p.(=)" "" "0000609959" "00011914" "50" "83721" "0" "83721" "0" "c.*82545C>T" "r.(=)" "p.(=)" "" "0000609960" "00011914" "50" "724" "0" "724" "0" "c.724G>A" "r.(?)" "p.(Gly242Arg)" "" "0000621624" "00011914" "10" "726" "0" "726" "0" "c.726G>A" "r.(?)" "p.(Gly242=)" "" "0000655475" "00011914" "30" "56378" "0" "56378" "0" "c.*55202G>A" "r.(=)" "p.(=)" "" "0000666168" "00011914" "50" "427" "0" "427" "0" "c.427C>T" "r.(?)" "p.(Arg143Trp)" "" "0000666169" "00011914" "30" "911" "0" "911" "0" "c.911A>G" "r.(?)" "p.(Asn304Ser)" "" "0000689611" "00011914" "30" "96811" "0" "96811" "0" "c.*95635T>G" "r.(=)" "p.(=)" "" "0000802283" "00011914" "10" "97206" "0" "97206" "0" "c.*96030T>G" "r.(=)" "p.(=)" "" "0000802284" "00011914" "10" "96954" "0" "96954" "0" "c.*95778C>T" "r.(=)" "p.(=)" "" "0000802285" "00011914" "30" "96821" "0" "96821" "0" "c.*95645G>A" "r.(=)" "p.(=)" "" "0000802286" "00011914" "10" "96818" "0" "96818" "0" "c.*95642A>G" "r.(=)" "p.(=)" "" "0000802287" "00011914" "10" "84816" "0" "84816" "0" "c.*83640G>C" "r.(=)" "p.(=)" "" "0000802288" "00011914" "50" "83602" "0" "83602" "0" "c.*82426C>T" "r.(=)" "p.(=)" "" "0000802289" "00011914" "50" "83584" "0" "83584" "0" "c.*82408T>G" "r.(=)" "p.(=)" "" "0000802290" "00011914" "10" "726" "0" "726" "0" "c.726G>A" "r.(?)" "p.(Gly242=)" "" "0000851043" "00011914" "30" "97447" "0" "97447" "0" "c.*96271G>A" "r.(=)" "p.(=)" "" "0000851044" "00011914" "10" "97435" "0" "97435" "0" "c.*96259C>T" "r.(=)" "p.(=)" "" "0000851045" "00011914" "10" "96520" "0" "96520" "0" "c.*95344G>T" "r.(=)" "p.(=)" "" "0000851046" "00011914" "10" "573" "0" "573" "0" "c.573G>A" "r.(?)" "p.(Ser191=)" "" "0000860129" "00011914" "30" "97877" "0" "97877" "0" "c.*96701G>A" "r.(=)" "p.(=)" "" "0000860130" "00011914" "30" "97832" "0" "97832" "0" "c.*96656A>G" "r.(=)" "p.(=)" "" "0000860131" "00011914" "10" "97239" "0" "97239" "0" "c.*96063C>T" "r.(=)" "p.(=)" "" "0000860132" "00011914" "10" "97239" "0" "97239" "0" "c.*96063C>T" "r.(=)" "p.(=)" "" "0000860133" "00011914" "50" "96833" "0" "96833" "0" "c.*95657C>T" "r.(=)" "p.(=)" "" "0000860134" "00011914" "30" "96542" "0" "96542" "0" "c.*95366C>T" "r.(=)" "p.(=)" "" "0000860135" "00011914" "30" "911" "0" "911" "0" "c.911A>G" "r.(?)" "p.(Asn304Ser)" "" "0000860136" "00011914" "10" "726" "0" "726" "0" "c.726G>A" "r.(?)" "p.(Gly242=)" "" "0000860137" "00011914" "10" "397" "0" "397" "0" "c.397A>G" "r.(?)" "p.(Thr133Ala)" "" "0000887022" "00011914" "30" "97687" "0" "97687" "0" "c.*96511C>T" "r.(=)" "p.(=)" "" "0000887023" "00011914" "10" "96818" "0" "96818" "0" "c.*95642A>G" "r.(=)" "p.(=)" "" "0000887024" "00011914" "10" "726" "0" "726" "0" "c.726G>A" "r.(?)" "p.(Gly242=)" "" "0000887025" "00011914" "50" "152" "0" "152" "0" "c.152A>T" "r.(?)" "p.(Asn51Ile)" "" "0000924428" "00011914" "30" "97447" "0" "97447" "0" "c.*96271G>A" "r.(=)" "p.(=)" "" "0000924429" "00011914" "30" "97435" "0" "97435" "0" "c.*96259C>T" "r.(=)" "p.(=)" "" "0000929139" "00011914" "50" "97247" "0" "97247" "0" "c.*96071C>T" "r.(=)" "p.(=)" "" "0000929140" "00011914" "30" "911" "0" "911" "0" "c.911A>G" "r.(?)" "p.(Asn304Ser)" "" "0000948629" "00011914" "30" "96690" "0" "96690" "0" "c.*95514A>T" "r.(=)" "p.(=)" "" "0000948630" "00011914" "30" "96542" "0" "96542" "0" "c.*95366C>T" "r.(=)" "p.(=)" "" "0000948631" "00011914" "10" "96520" "0" "96520" "0" "c.*95344G>T" "r.(=)" "p.(=)" "" "0000948632" "00011914" "70" "84793" "0" "84793" "0" "c.*83617C>A" "r.(=)" "p.(=)" "" "0000948633" "00011914" "30" "83630" "0" "83630" "0" "c.*82454C>T" "r.(=)" "p.(=)" "" "0000948634" "00011914" "50" "740" "0" "740" "0" "c.740G>A" "r.(?)" "p.(Arg247Gln)" "" "0000948635" "00011914" "70" "152" "0" "152" "0" "c.152A>T" "r.(?)" "p.(Asn51Ile)" "" "0000963800" "00011914" "30" "97832" "0" "97832" "0" "c.*96656A>G" "r.(=)" "p.(=)" "" "0000963802" "00011914" "30" "97255" "0" "97255" "0" "c.*96079A>G" "r.(=)" "p.(=)" "" "0000963803" "00011914" "50" "86609" "0" "86609" "0" "c.*85433C>G" "r.(=)" "p.(=)" "" "0000963804" "00011914" "30" "86048" "0" "86048" "0" "c.*84872del" "r.(?)" "p.(=)" "" "0000963805" "00011914" "10" "304" "21" "304" "21" "c.304+21A>G" "r.(=)" "p.(=)" "" "0000976951" "00011914" "30" "90" "0" "90" "0" "c.90G>A" "r.(?)" "p.(=)" "" "0000995304" "00011914" "90" "937" "0" "937" "0" "c.937C>T" "r.(?)" "p.(Gln313*)" "" "0001014169" "00011914" "50" "96677" "0" "96677" "0" "c.*95501A>G" "r.(=)" "p.(=)" "" "0001025163" "00011914" "10" "97769" "0" "97769" "0" "c.*96593C>T" "r.(=)" "p.(=)" "" "0001025164" "00011914" "50" "83595" "0" "83595" "0" "c.*82419A>G" "r.(=)" "p.(=)" "" "0001025165" "00011914" "30" "891" "0" "891" "0" "c.891C>T" "r.(?)" "p.(=)" "" "0001025166" "00011914" "50" "515" "0" "515" "0" "c.515G>T" "r.(?)" "p.(Cys172Phe)" "" "0001025167" "00011914" "30" "395" "0" "395" "0" "c.395G>A" "r.(?)" "p.(Arg132Gln)" "" "0001035430" "00011914" "30" "97832" "0" "97832" "0" "c.*96656A>G" "r.(=)" "p.(=)" "" "0001035431" "00011914" "30" "97762" "0" "97762" "0" "c.*96586A>G" "r.(=)" "p.(=)" "" "0001035432" "00011914" "30" "97255" "0" "97255" "0" "c.*96079A>G" "r.(=)" "p.(=)" "" "0001035433" "00011914" "50" "97112" "0" "97112" "0" "c.*95936G>A" "r.(=)" "p.(=)" "" "0001035434" "00011914" "30" "96690" "0" "96690" "0" "c.*95514A>T" "r.(=)" "p.(=)" "" "0001035435" "00011914" "10" "96520" "0" "96520" "0" "c.*95344G>T" "r.(=)" "p.(=)" "" "0001035436" "00011914" "50" "86609" "0" "86609" "0" "c.*85433C>G" "r.(=)" "p.(=)" "" "0001035437" "00011914" "50" "1030" "1" "1030" "1" "c.1030+1G>T" "r.spl?" "p.?" "" "0001046047" "00011914" "30" "97112" "0" "97112" "0" "c.*95936G>A" "r.(=)" "p.(=)" "" "0001046048" "00011914" "30" "96542" "0" "96542" "0" "c.*95366C>T" "r.(=)" "p.(=)" "" "0001046049" "00011914" "30" "911" "0" "911" "0" "c.911A>G" "r.(?)" "p.(Asn304Ser)" "" "0001046050" "00011914" "10" "397" "0" "397" "0" "c.397A>G" "r.(?)" "p.(Thr133Ala)" "" "0001052478" "00011914" "50" "97971" "0" "97971" "0" "c.*96795A>G" "r.(=)" "p.(=)" "" "0001052479" "00011914" "50" "282" "0" "282" "0" "c.282G>C" "r.(?)" "p.(Gln94His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000240133" "0000484140" "0000302811" "0000666168" "0000302812" "0000666169"