### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MCM7) # 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}}" "MCM7" "minichromosome maintenance complex component 7" "7" "q21.3-q22.1" "unknown" "NC_000007.13" "UD_132465730281" "" "https://www.LOVD.nl/MCM7" "" "1" "6950" "4176" "600592" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/MCM7_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-04-25 21:39:11" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00011912" "MCM7" "transcript variant 1" "001" "NM_005916.3" "" "NP_005907.3" "" "" "" "-510" "2311" "2160" "99699427" "99690404" "" "0000-00-00 00:00:00" "" "" "00025706" "MCM7" "transcript variant 1" "001" "NM_005916.4" "" "NP_005907.3" "" "" "" "-646" "2364" "2160" "99699563" "99690351" "00006" "2022-04-25 21:40:37" "" "" ## 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}}" "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" "05169" "MGORS" "Meier-Gorlin syndrome (MGORS)" "" "" "" "" "" "00006" "2016-05-26 15:16:56" "" "" "05421" "microcephaly" "microcephaly" "" "" "" "" "" "00006" "2018-04-15 11:41:15" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MCM7" "00139" "MCM7" "05421" ## 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}}" "00324523" "" "" "" "1" "" "03241" "" "" "F" "no" "Australia" "" "0" "" "" "" "" "00324524" "" "" "" "1" "" "03241" "" "" "M" "no" "Germany" "" "" "" "" "" "" "00408711" "" "" "" "3" "" "00006" "{PMID:Ravindran 2022:34059554}" "4-generation family, 3 affected sibs (F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "Kashmir" "family" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00324523" "05169" "00324524" "00198" "00408711" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 05169, 05421 ## 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/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000243066" "05169" "00324523" "03241" "Familial, autosomal recessive" "" "short stature\r\nmicrocephaly\r\nmicrotia\r\nbilateral absent patella\r\nabsent breast development" "" "" "" "" "" "" "" "" "MGORS" "MGORS" "" "0000243067" "00198" "00324524" "03241" "Familial, autosomal recessive" "" "failure to thrive\r\nlipodystrophy\r\nadrenal insufficiency\r\nprominent vasculature" "" "" "" "" "" "" "" "" "" "" "" "0000300830" "00198" "00408711" "00006" "Familial, autosomal recessive" "" "see paper; ..., congenital microcephaly, severe intellectual disability, speech delay, motor impairments, behavioural abnormalities" "" "" "" "" "" "" "" "" "" "microcephaly" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000325714" "00324523" "1" "03241" "03241" "2020-12-18 03:48:41" "" "" "SEQ-NG-I" "DNA" "" "linked-read WGS" "0000325715" "00324524" "1" "03241" "03241" "2020-12-18 03:59:04" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000325716" "00324524" "1" "03241" "03241" "2020-12-18 04:02:41" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000409975" "00408711" "1" "00006" "00006" "2022-04-25 21:46:40" "" "" "SEQ" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 76 "{{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}}" "0000259110" "0" "10" "7" "99699626" "99699626" "subst" "0.620494" "02325" "AP4M1_000007" "g.99699626T>C" "" "" "" "AP4M1(NM_004722.4):c.147+35T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100102003T>C" "" "benign" "" "0000260125" "0" "90" "7" "99704138" "99704138" "subst" "1.64E-5" "02329" "AP4M1_000001" "g.99704138G>T" "" "" "" "AP4M1(NM_004722.3):c.1137+1G>T, AP4M1(NM_004722.4):c.1137+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100106515G>T" "" "pathogenic" "" "0000262584" "0" "30" "7" "99703891" "99703891" "subst" "0.0170631" "01943" "AP4M1_000022" "g.99703891C>T" "" "" "" "AP4M1(NM_004722.3):c.1002C>T (p.L334=), AP4M1(NM_004722.4):c.1002C>T (p.(Leu334=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100106268C>T" "" "likely benign" "" "0000262585" "0" "90" "7" "99703901" "99703901" "subst" "4.06412E-5" "01943" "AP4M1_000003" "g.99703901C>T" "" "" "" "AP4M1(NM_004722.3):c.1012C>T (p.R338*), AP4M1(NM_004722.4):c.1012C>T (p.(Arg338*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100106278C>T" "" "pathogenic" "" "0000262586" "0" "30" "7" "99704153" "99704153" "subst" "0" "01943" "AP4M1_000023" "g.99704153C>T" "" "" "" "AP4M1(NM_004722.3):c.1137+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100106530C>T" "" "likely benign" "" "0000262587" "0" "30" "7" "99704283" "99704283" "subst" "0.00054693" "01943" "AP4M1_000024" "g.99704283G>A" "" "" "" "AP4M1(NM_004722.3):c.1140G>A (p.M380I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100106660G>A" "" "likely benign" "" "0000262588" "0" "10" "7" "99704448" "99704448" "subst" "0.019223" "01943" "AP4M1_000025" "g.99704448C>T" "" "" "" "AP4M1(NM_004722.3):c.1305C>T (p.N435=), AP4M1(NM_004722.4):c.1305C>T (p.(Asn435=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100106825C>T" "" "benign" "" "0000262589" "0" "90" "7" "99704460" "99704460" "subst" "4.06643E-6" "01943" "AP4M1_000026" "g.99704460G>A" "" "" "" "AP4M1(NM_004722.3):c.1317G>A (p.W439*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100106837G>A" "" "pathogenic" "" "0000262590" "0" "30" "7" "99704487" "99704487" "subst" "0.000930316" "01943" "AP4M1_000027" "g.99704487C>T" "" "" "" "AP4M1(NM_004722.3):c.1344C>T (p.A448=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100106864C>T" "" "likely benign" "" "0000262591" "0" "50" "7" "99699580" "99699580" "subst" "4.49306E-5" "01943" "AP4M1_000006" "g.99699580C>G" "" "" "" "AP4M1(NM_004722.3):c.136C>G (p.P46A), AP4M1(NM_004722.4):c.136C>G (p.(Pro46Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100101957C>G" "" "VUS" "" "0000262592" "0" "30" "7" "99700378" "99700378" "subst" "0.0073539" "01943" "AP4M1_000009" "g.99700378C>T" "" "" "" "AP4M1(NM_004722.3):c.228C>T (p.P76=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100102755C>T" "" "likely benign" "" "0000262593" "0" "10" "7" "99700471" "99700471" "subst" "0.00419103" "01943" "AP4M1_000010" "g.99700471C>T" "" "" "" "AP4M1(NM_004722.3):c.255-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100102848C>T" "" "benign" "" "0000262594" "0" "50" "7" "99700526" "99700526" "subst" "2.03039E-5" "01943" "AP4M1_000011" "g.99700526C>T" "" "" "" "AP4M1(NM_004722.3):c.294C>T (p.G98=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100102903C>T" "" "VUS" "" "0000262595" "0" "50" "7" "99701709" "99701709" "subst" "0.00033306" "01943" "AP4M1_000014" "g.99701709T>G" "" "" "" "AP4M1(NM_004722.3):c.544-6T>G, AP4M1(NM_004722.4):c.544-6T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100104086T>G" "" "VUS" "" "0000262596" "0" "10" "7" "99699489" "99699489" "subst" "0.000928482" "01943" "AP4M1_000005" "g.99699489C>G" "" "" "" "AP4M1(NM_004722.3):c.59-14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100101866C>G" "" "benign" "" "0000262597" "0" "10" "7" "99702947" "99702947" "subst" "0.0699726" "01943" "AP4M1_000017" "g.99702947G>A" "" "" "" "AP4M1(NM_004722.3):c.812G>A (p.R271H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100105324G>A" "" "benign" "" "0000262598" "0" "50" "7" "99703605" "99703605" "subst" "0.000284243" "01943" "AP4M1_000019" "g.99703605G>A" "" "" "" "AP4M1(NM_004722.3):c.953G>A (p.R318Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100105982G>A" "" "VUS" "" "0000262599" "0" "10" "7" "99703850" "99703850" "subst" "0.000121977" "01943" "AP4M1_000021" "g.99703850C>T" "" "" "" "AP4M1(NM_004722.3):c.975-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100106227C>T" "" "benign" "" "0000331725" "0" "50" "7" "99696224" "99696224" "subst" "0" "01804" "MCM7_000001" "g.99696224G>A" "" "" "" "MCM7(NM_001278595.1):c.169C>T (p.(Gln57Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100098601G>A" "" "VUS" "" "0000331728" "0" "30" "7" "99701274" "99701274" "subst" "0" "01804" "AP4M1_000013" "g.99701274A>C" "" "" "" "AP4M1(NM_004722.3):c.502A>C (p.(Ser168Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100103651A>C" "" "likely benign" "" "0000331729" "0" "50" "7" "99701709" "99701709" "subst" "0.00033306" "01804" "AP4M1_000014" "g.99701709T>G" "" "" "" "AP4M1(NM_004722.3):c.544-6T>G, AP4M1(NM_004722.4):c.544-6T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100104086T>G" "" "VUS" "" "0000331730" "0" "30" "7" "99702662" "99702662" "subst" "6.4972E-5" "01804" "AP4M1_000015" "g.99702662C>T" "" "" "" "AP4M1(NM_004722.3):c.674-6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100105039C>T" "" "likely benign" "" "0000331731" "0" "50" "7" "99702896" "99702896" "subst" "4.87266E-5" "01804" "AP4M1_000016" "g.99702896C>T" "" "" "" "AP4M1(NM_004722.3):c.761C>T (p.(Ser254Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100105273C>T" "" "VUS" "" "0000331734" "0" "50" "7" "99704982" "99704982" "subst" "2.79882E-5" "01804" "TAF6_000001" "g.99704982T>C" "" "" "" "TAF6(NM_001190415.1):c.2032A>G (p.(Ser678Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100107359T>C" "" "VUS" "" "0000331735" "0" "50" "7" "99705197" "99705197" "subst" "2.84886E-5" "01804" "TAF6_000002" "g.99705197G>A" "" "" "" "TAF6(NM_001190415.1):c.1817C>T (p.(Ser606Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100107574G>A" "" "VUS" "" "0000338960" "0" "10" "7" "99699169" "99699169" "subst" "0" "02327" "AP4M1_000028" "g.99699169A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100101546A>T" "" "benign" "" "0000338961" "0" "70" "7" "99702566" "99702566" "subst" "0" "02327" "AP4M1_000034" "g.99702566G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100104943G>T" "" "likely pathogenic" "" "0000342592" "0" "90" "7" "99703149" "99703149" "subst" "4.0709E-5" "02327" "AP4M1_000035" "g.99703149C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100105526C>T" "" "pathogenic" "" "0000342622" "0" "90" "7" "99703604" "99703604" "subst" "4.06058E-6" "02327" "AP4M1_000004" "g.99703604C>T" "" "" "" "AP4M1(NM_004722.3):c.952C>T (p.(Arg318*)), AP4M1(NM_004722.4):c.952C>T (p.R318*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100105981C>T" "" "pathogenic" "" "0000342671" "0" "90" "7" "99703901" "99703901" "subst" "4.06412E-5" "02327" "AP4M1_000003" "g.99703901C>T" "" "" "" "AP4M1(NM_004722.3):c.1012C>T (p.R338*), AP4M1(NM_004722.4):c.1012C>T (p.(Arg338*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100106278C>T" "" "pathogenic" "" "0000342743" "0" "50" "7" "99704100" "99704100" "subst" "0.000342095" "02327" "AP4M1_000038" "g.99704100G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100106477G>A" "" "VUS" "" "0000344610" "0" "90" "7" "99701313" "99701313" "subst" "4.07014E-6" "02327" "AP4M1_000032" "g.99701313C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100103690C>T" "" "pathogenic" "" "0000344613" "0" "90" "7" "99701718" "99701718" "subst" "0" "02327" "AP4M1_000033" "g.99701718C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100104095C>T" "" "pathogenic" "" "0000345977" "0" "50" "7" "99703153" "99703153" "subst" "3.25998E-5" "02327" "AP4M1_000036" "g.99703153G>C" "" "" "" "AP4M1(NM_004722.3):c.920G>C (p.G307A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100105530G>C" "" "VUS" "" "0000533178" "0" "30" "7" "99697028" "99697028" "subst" "0" "01804" "AP4M1_000043" "g.99697028T>A" "" "" "" "MCM7(NM_001278595.1):c.-327-2A>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100099405T>A" "" "likely benign" "" "0000533181" "0" "50" "7" "99702498" "99702498" "subst" "4.06091E-6" "01804" "AP4M1_000046" "g.99702498G>A" "" "" "" "AP4M1(NM_004722.4):c.608G>A (p.(Gly203Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100104875G>A" "" "VUS" "" "0000533182" "0" "30" "7" "99702556" "99702556" "subst" "1.6243E-5" "01943" "AP4M1_000047" "g.99702556C>T" "" "" "" "AP4M1(NM_004722.3):c.666C>T (p.S222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100104933C>T" "" "likely benign" "" "0000533183" "0" "30" "7" "99703582" "99703582" "subst" "0.000726845" "01943" "AP4M1_000018" "g.99703582G>A" "" "" "" "AP4M1(NM_004722.3):c.930G>A (p.R310=), AP4M1(NM_004722.4):c.930G>A (p.R310=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100105959G>A" "" "likely benign" "" "0000533184" "0" "90" "7" "99704138" "99704138" "subst" "1.64E-5" "01943" "AP4M1_000001" "g.99704138G>T" "" "" "" "AP4M1(NM_004722.3):c.1137+1G>T, AP4M1(NM_004722.4):c.1137+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100106515G>T" "" "pathogenic" "" "0000533185" "0" "90" "7" "99704407" "99704407" "subst" "8.12757E-6" "02327" "AP4M1_000048" "g.99704407C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100106784C>T" "" "pathogenic" "" "0000533186" "0" "50" "7" "99704465" "99704465" "subst" "2.03381E-5" "01943" "AP4M1_000049" "g.99704465G>A" "" "" "" "AP4M1(NM_004722.3):c.1322G>A (p.R441Q), AP4M1(NM_004722.4):c.1322G>A (p.(Arg441Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100106842G>A" "" "VUS" "" "0000611345" "0" "10" "7" "99699407" "99699407" "subst" "0.00312237" "02327" "AP4M1_000052" "g.99699407C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100101784C>T" "" "benign" "" "0000611346" "0" "30" "7" "99702708" "99702708" "subst" "4.06118E-6" "01943" "AP4M1_000054" "g.99702708G>A" "" "" "" "AP4M1(NM_004722.3):c.714G>A (p.K238=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100105085G>A" "" "likely benign" "" "0000621963" "0" "30" "7" "99701320" "99701320" "subst" "0" "01943" "AP4M1_000053" "g.99701320G>A" "" "" "" "AP4M1(NM_004722.3):c.543+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100103697G>A" "" "likely benign" "" "0000655943" "0" "90" "7" "99704138" "99704138" "subst" "1.64E-5" "02325" "AP4M1_000001" "g.99704138G>T" "" "" "" "AP4M1(NM_004722.3):c.1137+1G>T, AP4M1(NM_004722.4):c.1137+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100106515G>T" "" "pathogenic" "" "0000678235" "0" "90" "7" "99703604" "99703604" "subst" "4.06058E-6" "02325" "AP4M1_000004" "g.99703604C>T" "" "" "" "AP4M1(NM_004722.3):c.952C>T (p.(Arg318*)), AP4M1(NM_004722.4):c.952C>T (p.R318*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000678236" "0" "70" "7" "99703607" "99703607" "subst" "2.03028E-5" "02329" "AP4M1_000040" "g.99703607T>C" "" "" "" "AP4M1(NM_004722.4):c.955T>C (p.C319R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000678237" "0" "30" "7" "99703612" "99703612" "subst" "0.000430418" "01943" "AP4M1_000055" "g.99703612C>T" "" "" "" "AP4M1(NM_004722.3):c.960C>T (p.D320=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690117" "0" "50" "7" "99699580" "99699580" "subst" "4.49306E-5" "02327" "AP4M1_000006" "g.99699580C>G" "" "" "" "AP4M1(NM_004722.3):c.136C>G (p.P46A), AP4M1(NM_004722.4):c.136C>G (p.(Pro46Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000708852" "1" "90" "7" "99696813" "99696813" "subst" "4.06101E-6" "03241" "MCM7_000003" "g.99696813G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.100099190G>A" "" "pathogenic (recessive)" "ACMG" "0000708853" "2" "90" "7" "99693073" "99693073" "subst" "4.07551E-6" "03241" "MCM7_000002" "g.99693073T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.100095450T>C" "" "pathogenic (recessive)" "ACMG" "0000708854" "2" "90" "7" "99695858" "99695858" "subst" "0" "03241" "MCM7_000004" "g.99695858C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.100098235C>G" "" "pathogenic (recessive)" "ACMG" "0000708855" "1" "90" "7" "99693413" "99693413" "subst" "8.64506E-6" "03241" "MCM7_000005" "g.99693413G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.100095790G>A" "" "pathogenic (recessive)" "ACMG" "0000803327" "0" "30" "7" "99693747" "99693747" "subst" "0" "01943" "AP4M1_000059" "g.99693747C>G" "" "" "" "MCM7(NM_001278595.1):c.717G>C (p.T239=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803328" "0" "50" "7" "99697682" "99697682" "subst" "4.06088E-6" "01943" "AP4M1_000060" "g.99697682C>A" "" "" "" "MCM7(NM_005916.4):c.66G>T (p.Q22H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000847203" "3" "90" "7" "99695841" "99695841" "subst" "2.03085E-5" "00006" "MCM7_000006" "g.99695841C>T" "" "{PMID:Ravindran 2022:34059554}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100098218C>T" "" "pathogenic (recessive)" "" "0000851734" "0" "30" "7" "99702906" "99702906" "subst" "2.84239E-5" "01943" "AP4M1_000065" "g.99702906C>T" "" "" "" "AP4M1(NM_004722.3):c.771C>T (p.S257=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851735" "0" "50" "7" "99703153" "99703153" "subst" "3.25998E-5" "01943" "AP4M1_000036" "g.99703153G>C" "" "" "" "AP4M1(NM_004722.3):c.920G>C (p.G307A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860981" "0" "50" "7" "99701263" "99701263" "subst" "0" "01943" "AP4M1_000064" "g.99701263T>C" "" "" "" "AP4M1(NM_004722.3):c.491T>C (p.V164A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860982" "0" "50" "7" "99704060" "99704060" "subst" "0" "01943" "AP4M1_000066" "g.99704060G>A" "" "" "" "AP4M1(NM_004722.3):c.1060G>A (p.A354T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888068" "0" "90" "7" "99704138" "99704138" "subst" "1.64E-5" "02327" "AP4M1_000001" "g.99704138G>T" "" "" "" "AP4M1(NM_004722.3):c.1137+1G>T, AP4M1(NM_004722.4):c.1137+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888069" "0" "50" "7" "99705159" "99705159" "subst" "8.12968E-6" "02325" "AP4M1_000067" "g.99705159C>T" "" "" "" "AP4M1(NM_004722.4):c.*654C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977942" "0" "50" "7" "99699580" "99699580" "subst" "4.49306E-5" "01804" "AP4M1_000006" "g.99699580C>G" "" "" "" "AP4M1(NM_004722.3):c.136C>G (p.P46A), AP4M1(NM_004722.4):c.136C>G (p.(Pro46Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977943" "0" "50" "7" "99701292" "99701292" "subst" "1.21925E-5" "01804" "AP4M1_000068" "g.99701292G>A" "" "" "" "AP4M1(NM_004722.4):c.520G>A (p.(Val174Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977944" "0" "10" "7" "99703891" "99703891" "subst" "0.0170631" "01804" "AP4M1_000022" "g.99703891C>T" "" "" "" "AP4M1(NM_004722.3):c.1002C>T (p.L334=), AP4M1(NM_004722.4):c.1002C>T (p.(Leu334=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000977945" "0" "90" "7" "99703901" "99703901" "subst" "4.06412E-5" "01804" "AP4M1_000003" "g.99703901C>T" "" "" "" "AP4M1(NM_004722.3):c.1012C>T (p.R338*), AP4M1(NM_004722.4):c.1012C>T (p.(Arg338*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000977946" "0" "30" "7" "99704448" "99704448" "subst" "0.019223" "01804" "AP4M1_000025" "g.99704448C>T" "" "" "" "AP4M1(NM_004722.3):c.1305C>T (p.N435=), AP4M1(NM_004722.4):c.1305C>T (p.(Asn435=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996805" "0" "50" "7" "99687246" "99687246" "dup" "0" "01804" "AP4M1_000069" "g.99687246dup" "" "" "" "COPS6(NM_006833.4):c.211dupG (p.(Ala71fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996806" "0" "30" "7" "99695787" "99695787" "subst" "0.000195043" "01804" "AP4M1_000070" "g.99695787T>C" "" "" "" "MCM7(NM_005916.4):c.847A>G (p.(Thr283Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996807" "0" "50" "7" "99701134" "99701134" "subst" "1.21824E-5" "01804" "AP4M1_000071" "g.99701134G>A" "" "" "" "AP4M1(NM_004722.3):c.454G>A (p.(Val152Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996808" "0" "50" "7" "99702861" "99702861" "subst" "0" "01804" "AP4M1_000072" "g.99702861A>C" "" "" "" "AP4M1(NM_004722.3):c.728-2A>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996809" "0" "90" "7" "99703604" "99703604" "subst" "4.06058E-6" "01804" "AP4M1_000004" "g.99703604C>T" "" "" "" "AP4M1(NM_004722.3):c.952C>T (p.(Arg318*)), AP4M1(NM_004722.4):c.952C>T (p.R318*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001025462" "0" "30" "7" "99703582" "99703582" "subst" "0.000726845" "02326" "AP4M1_000018" "g.99703582G>A" "" "" "" "AP4M1(NM_004722.3):c.930G>A (p.R310=), AP4M1(NM_004722.4):c.930G>A (p.R310=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036635" "0" "50" "7" "99702959" "99702959" "subst" "0" "01804" "AP4M1_000073" "g.99702959C>T" "" "" "" "AP4M1(NM_004722.4):c.824C>T (p.(Pro275Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036636" "0" "90" "7" "99704138" "99704138" "subst" "1.64E-5" "01804" "AP4M1_000001" "g.99704138G>T" "" "" "" "AP4M1(NM_004722.3):c.1137+1G>T, AP4M1(NM_004722.4):c.1137+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001036637" "0" "50" "7" "99704465" "99704465" "subst" "2.03381E-5" "01804" "AP4M1_000049" "g.99704465G>A" "" "" "" "AP4M1(NM_004722.3):c.1322G>A (p.R441Q), AP4M1(NM_004722.4):c.1322G>A (p.(Arg441Gln))" "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 MCM7 ## Count = 129 "{{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}}" "0000259110" "00025706" "10" "-709" "0" "-709" "0" "c.-709A>G" "r.(?)" "p.(=)" "" "0000259110" "00011912" "10" "-709" "0" "-709" "0" "c.-709A>G" "r.(?)" "p.(=)" "" "0000260125" "00025706" "90" "-5221" "0" "-5221" "0" "c.-5221C>A" "r.(?)" "p.(=)" "" "0000260125" "00011912" "90" "-5221" "0" "-5221" "0" "c.-5221C>A" "r.(?)" "p.(=)" "" "0000262584" "00025706" "30" "-4974" "0" "-4974" "0" "c.-4974G>A" "r.(?)" "p.(=)" "" "0000262584" "00011912" "30" "-4974" "0" "-4974" "0" "c.-4974G>A" "r.(?)" "p.(=)" "" "0000262585" "00025706" "90" "-4984" "0" "-4984" "0" "c.-4984G>A" "r.(?)" "p.(=)" "" "0000262585" "00011912" "90" "-4984" "0" "-4984" "0" "c.-4984G>A" "r.(?)" "p.(=)" "" "0000262586" "00025706" "30" "-5236" "0" "-5236" "0" "c.-5236G>A" "r.(?)" "p.(=)" "" "0000262586" "00011912" "30" "-5236" "0" "-5236" "0" "c.-5236G>A" "r.(?)" "p.(=)" "" "0000262587" "00025706" "30" "-5366" "0" "-5366" "0" "c.-5366C>T" "r.(?)" "p.(=)" "" "0000262587" "00011912" "30" "-5366" "0" "-5366" "0" "c.-5366C>T" "r.(?)" "p.(=)" "" "0000262588" "00025706" "10" "-5531" "0" "-5531" "0" "c.-5531G>A" "r.(?)" "p.(=)" "" "0000262589" "00025706" "90" "-5543" "0" "-5543" "0" "c.-5543C>T" "r.(?)" "p.(=)" "" "0000262590" "00025706" "30" "-5570" "0" "-5570" "0" "c.-5570G>A" "r.(?)" "p.(=)" "" "0000262591" "00025706" "50" "-663" "0" "-663" "0" "c.-663G>C" "r.(?)" "p.(=)" "" "0000262591" "00011912" "50" "-663" "0" "-663" "0" "c.-663G>C" "r.(?)" "p.(=)" "" "0000262592" "00025706" "30" "-1461" "0" "-1461" "0" "c.-1461G>A" "r.(?)" "p.(=)" "" "0000262592" "00011912" "30" "-1461" "0" "-1461" "0" "c.-1461G>A" "r.(?)" "p.(=)" "" "0000262593" "00025706" "10" "-1554" "0" "-1554" "0" "c.-1554G>A" "r.(?)" "p.(=)" "" "0000262593" "00011912" "10" "-1554" "0" "-1554" "0" "c.-1554G>A" "r.(?)" "p.(=)" "" "0000262594" "00025706" "50" "-1609" "0" "-1609" "0" "c.-1609G>A" "r.(?)" "p.(=)" "" "0000262594" "00011912" "50" "-1609" "0" "-1609" "0" "c.-1609G>A" "r.(?)" "p.(=)" "" "0000262595" "00025706" "50" "-2792" "0" "-2792" "0" "c.-2792A>C" "r.(?)" "p.(=)" "" "0000262595" "00011912" "50" "-2792" "0" "-2792" "0" "c.-2792A>C" "r.(?)" "p.(=)" "" "0000262596" "00025706" "10" "-572" "0" "-572" "0" "c.-572G>C" "r.(?)" "p.(=)" "" "0000262596" "00011912" "10" "-572" "0" "-572" "0" "c.-572G>C" "r.(?)" "p.(=)" "" "0000262597" "00025706" "10" "-4030" "0" "-4030" "0" "c.-4030C>T" "r.(?)" "p.(=)" "" "0000262597" "00011912" "10" "-4030" "0" "-4030" "0" "c.-4030C>T" "r.(?)" "p.(=)" "" "0000262598" "00025706" "50" "-4688" "0" "-4688" "0" "c.-4688C>T" "r.(?)" "p.(=)" "" "0000262598" "00011912" "50" "-4688" "0" "-4688" "0" "c.-4688C>T" "r.(?)" "p.(=)" "" "0000262599" "00025706" "10" "-4933" "0" "-4933" "0" "c.-4933G>A" "r.(?)" "p.(=)" "" "0000262599" "00011912" "10" "-4933" "0" "-4933" "0" "c.-4933G>A" "r.(?)" "p.(=)" "" "0000331725" "00025706" "50" "697" "0" "697" "0" "c.697C>T" "r.(?)" "p.(Gln233Ter)" "" "0000331725" "00011912" "50" "697" "0" "697" "0" "c.697C>T" "r.(?)" "p.(Gln233Ter)" "" "0000331728" "00025706" "30" "-2357" "0" "-2357" "0" "c.-2357T>G" "r.(?)" "p.(=)" "" "0000331728" "00011912" "30" "-2357" "0" "-2357" "0" "c.-2357T>G" "r.(?)" "p.(=)" "" "0000331729" "00025706" "50" "-2792" "0" "-2792" "0" "c.-2792A>C" "r.(?)" "p.(=)" "" "0000331729" "00011912" "50" "-2792" "0" "-2792" "0" "c.-2792A>C" "r.(?)" "p.(=)" "" "0000331730" "00025706" "30" "-3745" "0" "-3745" "0" "c.-3745G>A" "r.(?)" "p.(=)" "" "0000331730" "00011912" "30" "-3745" "0" "-3745" "0" "c.-3745G>A" "r.(?)" "p.(=)" "" "0000331731" "00025706" "50" "-3979" "0" "-3979" "0" "c.-3979G>A" "r.(?)" "p.(=)" "" "0000331731" "00011912" "50" "-3979" "0" "-3979" "0" "c.-3979G>A" "r.(?)" "p.(=)" "" "0000331734" "00025706" "50" "-6065" "0" "-6065" "0" "c.-6065A>G" "r.(?)" "p.(=)" "" "0000331735" "00025706" "50" "-6280" "0" "-6280" "0" "c.-6280C>T" "r.(?)" "p.(=)" "" "0000338960" "00025706" "10" "-252" "0" "-252" "0" "c.-252T>A" "r.(?)" "p.(=)" "" "0000338960" "00011912" "10" "-252" "0" "-252" "0" "c.-252T>A" "r.(?)" "p.(=)" "" "0000338961" "00025706" "70" "-3649" "0" "-3649" "0" "c.-3649C>A" "r.(?)" "p.(=)" "" "0000338961" "00011912" "70" "-3649" "0" "-3649" "0" "c.-3649C>A" "r.(?)" "p.(=)" "" "0000342592" "00025706" "90" "-4232" "0" "-4232" "0" "c.-4232G>A" "r.(?)" "p.(=)" "" "0000342592" "00011912" "90" "-4232" "0" "-4232" "0" "c.-4232G>A" "r.(?)" "p.(=)" "" "0000342622" "00025706" "90" "-4687" "0" "-4687" "0" "c.-4687G>A" "r.(?)" "p.(=)" "" "0000342622" "00011912" "90" "-4687" "0" "-4687" "0" "c.-4687G>A" "r.(?)" "p.(=)" "" "0000342671" "00025706" "90" "-4984" "0" "-4984" "0" "c.-4984G>A" "r.(?)" "p.(=)" "" "0000342671" "00011912" "90" "-4984" "0" "-4984" "0" "c.-4984G>A" "r.(?)" "p.(=)" "" "0000342743" "00025706" "50" "-5183" "0" "-5183" "0" "c.-5183C>T" "r.(?)" "p.(=)" "" "0000342743" "00011912" "50" "-5183" "0" "-5183" "0" "c.-5183C>T" "r.(?)" "p.(=)" "" "0000344610" "00025706" "90" "-2396" "0" "-2396" "0" "c.-2396G>A" "r.(?)" "p.(=)" "" "0000344610" "00011912" "90" "-2396" "0" "-2396" "0" "c.-2396G>A" "r.(?)" "p.(=)" "" "0000344613" "00025706" "90" "-2801" "0" "-2801" "0" "c.-2801G>A" "r.(?)" "p.(=)" "" "0000344613" "00011912" "90" "-2801" "0" "-2801" "0" "c.-2801G>A" "r.(?)" "p.(=)" "" "0000345977" "00025706" "50" "-4236" "0" "-4236" "0" "c.-4236C>G" "r.(?)" "p.(=)" "" "0000345977" "00011912" "50" "-4236" "0" "-4236" "0" "c.-4236C>G" "r.(?)" "p.(=)" "" "0000533178" "00025706" "30" "277" "-2" "277" "-2" "c.277-2A>T" "r.spl?" "p.?" "" "0000533178" "00011912" "30" "277" "-2" "277" "-2" "c.277-2A>T" "r.spl?" "p.?" "" "0000533181" "00025706" "50" "-3581" "0" "-3581" "0" "c.-3581C>T" "r.(?)" "p.(=)" "" "0000533182" "00025706" "30" "-3639" "0" "-3639" "0" "c.-3639G>A" "r.(?)" "p.(=)" "" "0000533182" "00011912" "30" "-3639" "0" "-3639" "0" "c.-3639G>A" "r.(?)" "p.(=)" "" "0000533183" "00025706" "30" "-4665" "0" "-4665" "0" "c.-4665C>T" "r.(?)" "p.(=)" "" "0000533183" "00011912" "30" "-4665" "0" "-4665" "0" "c.-4665C>T" "r.(?)" "p.(=)" "" "0000533184" "00025706" "90" "-5221" "0" "-5221" "0" "c.-5221C>A" "r.(?)" "p.(=)" "" "0000533184" "00011912" "90" "-5221" "0" "-5221" "0" "c.-5221C>A" "r.(?)" "p.(=)" "" "0000533185" "00025706" "90" "-5490" "0" "-5490" "0" "c.-5490G>A" "r.(?)" "p.(=)" "" "0000533185" "00011912" "90" "-5490" "0" "-5490" "0" "c.-5490G>A" "r.(?)" "p.(=)" "" "0000533186" "00025706" "50" "-5548" "0" "-5548" "0" "c.-5548C>T" "r.(?)" "p.(=)" "" "0000611345" "00025706" "10" "-490" "0" "-490" "0" "c.-490G>A" "r.(?)" "p.(=)" "" "0000611345" "00011912" "10" "-490" "0" "-490" "0" "c.-490G>A" "r.(?)" "p.(=)" "" "0000611346" "00025706" "30" "-3791" "0" "-3791" "0" "c.-3791C>T" "r.(?)" "p.(=)" "" "0000611346" "00011912" "30" "-3791" "0" "-3791" "0" "c.-3791C>T" "r.(?)" "p.(=)" "" "0000621963" "00025706" "30" "-2403" "0" "-2403" "0" "c.-2403C>T" "r.(?)" "p.(=)" "" "0000621963" "00011912" "30" "-2403" "0" "-2403" "0" "c.-2403C>T" "r.(?)" "p.(=)" "" "0000655943" "00025706" "90" "-5221" "0" "-5221" "0" "c.-5221C>A" "r.(?)" "p.(=)" "" "0000655943" "00011912" "90" "-5221" "0" "-5221" "0" "c.-5221C>A" "r.(?)" "p.(=)" "" "0000678235" "00025706" "90" "-4687" "0" "-4687" "0" "c.-4687G>A" "r.(?)" "p.(=)" "" "0000678235" "00011912" "90" "-4687" "0" "-4687" "0" "c.-4687G>A" "r.(?)" "p.(=)" "" "0000678236" "00025706" "70" "-4690" "0" "-4690" "0" "c.-4690A>G" "r.(?)" "p.(=)" "" "0000678236" "00011912" "70" "-4690" "0" "-4690" "0" "c.-4690A>G" "r.(?)" "p.(=)" "" "0000678237" "00025706" "30" "-4695" "0" "-4695" "0" "c.-4695G>A" "r.(?)" "p.(=)" "" "0000678237" "00011912" "30" "-4695" "0" "-4695" "0" "c.-4695G>A" "r.(?)" "p.(=)" "" "0000690117" "00025706" "50" "-663" "0" "-663" "0" "c.-663G>C" "r.(?)" "p.(=)" "" "0000690117" "00011912" "50" "-663" "0" "-663" "0" "c.-663G>C" "r.(?)" "p.(=)" "" "0000708852" "00011912" "90" "415" "0" "415" "0" "c.415C>T" "r.(?)" "p.(Gln139*)" "" "0000708853" "00011912" "90" "1616" "0" "1616" "0" "c.1616A>G" "r.(?)" "p.(Tyr539Cys)" "" "0000708854" "00011912" "90" "776" "0" "776" "0" "c.776G>C" "r.(?)" "p.(Gly259Ala)" "" "0000708855" "00011912" "90" "1579" "0" "1579" "0" "c.1579C>T" "r.(?)" "p.(Arg527*)" "" "0000803327" "00025706" "30" "1245" "0" "1245" "0" "c.1245G>C" "r.(?)" "p.(Thr415=)" "" "0000803327" "00011912" "30" "1245" "0" "1245" "0" "c.1245G>C" "r.(?)" "p.(Thr415=)" "" "0000803328" "00025706" "50" "66" "0" "66" "0" "c.66G>T" "r.(?)" "p.(Gln22His)" "" "0000803328" "00011912" "50" "66" "0" "66" "0" "c.66G>T" "r.(?)" "p.(Gln22His)" "" "0000847203" "00025706" "90" "793" "0" "793" "0" "c.793G>A" "r.(?)" "p.(Ala265Thr)" "" "0000847203" "00011912" "90" "793" "0" "793" "0" "c.793G>A" "r.(?)" "p.(Ala265Thr)" "" "0000851734" "00025706" "30" "-3989" "0" "-3989" "0" "c.-3989G>A" "r.(?)" "p.(=)" "" "0000851735" "00025706" "50" "-4236" "0" "-4236" "0" "c.-4236C>G" "r.(?)" "p.(=)" "" "0000851735" "00011912" "50" "-4236" "0" "-4236" "0" "c.-4236C>G" "r.(?)" "p.(=)" "" "0000860981" "00025706" "50" "-2346" "0" "-2346" "0" "c.-2346A>G" "r.(?)" "p.(=)" "" "0000860982" "00025706" "50" "-5143" "0" "-5143" "0" "c.-5143C>T" "r.(?)" "p.(=)" "" "0000888068" "00025706" "90" "-5221" "0" "-5221" "0" "c.-5221C>A" "r.(?)" "p.(=)" "" "0000888068" "00011912" "90" "-5221" "0" "-5221" "0" "c.-5221C>A" "r.(?)" "p.(=)" "" "0000888069" "00025706" "50" "-6242" "0" "-6242" "0" "c.-6242G>A" "r.(?)" "p.(=)" "" "0000977942" "00025706" "50" "-663" "0" "-663" "0" "c.-663G>C" "r.(?)" "p.(=)" "" "0000977942" "00011912" "50" "-663" "0" "-663" "0" "c.-663G>C" "r.(?)" "p.(=)" "" "0000977943" "00025706" "50" "-2375" "0" "-2375" "0" "c.-2375C>T" "r.(?)" "p.(=)" "" "0000977944" "00025706" "10" "-4974" "0" "-4974" "0" "c.-4974G>A" "r.(?)" "p.(=)" "" "0000977944" "00011912" "10" "-4974" "0" "-4974" "0" "c.-4974G>A" "r.(?)" "p.(=)" "" "0000977945" "00025706" "90" "-4984" "0" "-4984" "0" "c.-4984G>A" "r.(?)" "p.(=)" "" "0000977945" "00011912" "90" "-4984" "0" "-4984" "0" "c.-4984G>A" "r.(?)" "p.(=)" "" "0000977946" "00025706" "30" "-5531" "0" "-5531" "0" "c.-5531G>A" "r.(?)" "p.(=)" "" "0000996805" "00025706" "50" "5472" "0" "5472" "0" "c.*3312dup" "r.(?)" "p.(=)" "" "0000996806" "00025706" "30" "847" "0" "847" "0" "c.847A>G" "r.(?)" "p.(Thr283Ala)" "" "0000996807" "00025706" "50" "-2217" "0" "-2217" "0" "c.-2217C>T" "r.(?)" "p.(=)" "" "0000996808" "00025706" "50" "-3944" "0" "-3944" "0" "c.-3944T>G" "r.(?)" "p.(=)" "" "0000996809" "00025706" "90" "-4687" "0" "-4687" "0" "c.-4687G>A" "r.(?)" "p.(=)" "" "0000996809" "00011912" "90" "-4687" "0" "-4687" "0" "c.-4687G>A" "r.(?)" "p.(=)" "" "0001025462" "00025706" "30" "-4665" "0" "-4665" "0" "c.-4665C>T" "r.(?)" "p.(=)" "" "0001025462" "00011912" "30" "-4665" "0" "-4665" "0" "c.-4665C>T" "r.(?)" "p.(=)" "" "0001036635" "00025706" "50" "-4042" "0" "-4042" "0" "c.-4042G>A" "r.(?)" "p.(=)" "" "0001036636" "00025706" "90" "-5221" "0" "-5221" "0" "c.-5221C>A" "r.(?)" "p.(=)" "" "0001036636" "00011912" "90" "-5221" "0" "-5221" "0" "c.-5221C>A" "r.(?)" "p.(=)" "" "0001036637" "00025706" "50" "-5548" "0" "-5548" "0" "c.-5548C>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000325714" "0000708852" "0000325714" "0000708853" "0000325715" "0000708854" "0000325716" "0000708855" "0000409975" "0000847203"