### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MCM3AP) # 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}}" "MCM3AP" "minichromosome maintenance complex component 3 associated protein" "21" "q22.3" "unknown" "NC_000021.8" "UD_132463691221" "" "http://www.LOVD.nl/MCM3AP" "" "1" "6946" "8888" "603294" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/MCM3AP_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-09-06 21:53:03" "00000" "2025-07-08 13:22:38" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00011907" "MCM3AP" "minichromosome maintenance complex component 3 associated protein" "001" "NM_003906.3" "" "NP_003897.2" "" "" "" "-36" "6077" "5943" "47705236" "47655048" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "00314" "polyposis" "polyposis" "" "" "" "" "" "00006" "2014-01-27 14:59:09" "" "" "01500" "HOKPP" "paralysis, hypokalemic, periodic (HOKPP)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2018-06-02 17:07:18" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" "06523" "PNRIID" "Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development" "AR" "618124" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MCM3AP" "06523" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00016101" "" "" "" "1" "" "00661" "" "detected possibly causative variant but have not yet sufficient evidence to publish - please contact me" "M" "?" "Germany" "" "1" "" "" "" "" "00016289" "" "" "" "1" "" "00661" "" "detected possibly causative variant but have not yet sufficient evidence to publish - please contact me" "M" "?" "Germany" "" "1" "" "" "" "" "00016290" "" "" "" "1" "" "00661" "" "detected possibly causative variant but have not yet sufficient evidence to publish - please contact me" "F" "?" "Germany" "" "1" "" "" "" "" "00164628" "" "" "" "4" "" "02493" "" "" "" "" "" "" "0" "" "" "" "" "00164645" "" "" "" "2" "" "00006" "{PMID:Schuurs-Hoeijmakers 2013:24123876}" "2-generation family, affected brother/sister, unaffected carrier parents" "F;M" "" "Netherlands" "" "0" "" "" "" "24123876-FamW05-358" "00397317" "" "" "" "1" "" "04212" "{PMID:Dong 2020:32319184}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "China" ">11y" "0" "" "" "" "patient" "00404059" "" "" "" "5" "" "00435" "" "" "F" "" "Egypt" "" "" "" "" "" "" "00426135" "" "" "" "1" "" "00006" "{PMID:Al-Kasbi 2022:36344539}" "patient, other affecteds in family" "F" "" "Oman" "" "0" "" "" "" "19BS14000" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00016101" "00314" "00016289" "00314" "00016290" "00314" "00164628" "01500" "00164645" "00139" "00397317" "05113" "00404059" "05113" "00426135" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00314, 01500, 05113, 06523 ## Count = 8 "{{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}}" "0000014854" "00314" "00016101" "00661" "Isolated (sporadic)" "40y" "colorectal adenomatous polyposis" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000014879" "00314" "00016289" "00661" "Isolated (sporadic)" "59y" "colorectal adenomatous polyposis" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000014880" "00314" "00016290" "00661" "Isolated (sporadic)" "61y" "colorectal adenomatous polyposis" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000129665" "01500" "00164628" "02493" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "hypokalaemic periodic paralyses" "hypokalaemic periodic paralyses" "0000129682" "00139" "00164645" "00006" "Unknown" "" "borderline/mild ID, progressive polyneuropathy, ptosis" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "0000290470" "05113" "00397317" "04212" "Familial, autosomal recessive" "11y" "see paper; normal birth, perinatal events unremarkable; delayed early motor milestones (HP:0001270), 17m-walk; 5y-distal muscle weakness (HP:0002460), numbness (HP:0033748), symptoms progressed slowly;11y-pes cavus (HP:0001761), foot drop (HP:0001761); symmetrical weakness of ankle dorsiflexion, moderate atrophy distal muscles lower limbs (HP:0003693), atrophy thenar muscles upper limbs; absent tendon reflexes all limbs (HP:0001284); normal pinprick sensation, normal vibration sensation; normal cognition, cranial nerves, cerebellar function; axonal sensorimotor neuropathy with moderate decrease motor nerve conduction velocities median, ulnar, peroneal, tibial nerves, absence/severe decrease compound muscle action potential and sensory nerve action potential all tested nerves, ..." "" "" "" "" "" "" "" "" "" "" "" "PNRIID" "Charcot-Marie-Tooth disease" "0000296652" "05113" "00404059" "00435" "Familial, autosomal recessive" "20y" "20-y female with progressive weakness and wasting of both upper and lower limbs and pes cavus. There was history of delayed motor development." "07y" "" "" "" "" "" "" "" "" "" "" "CMT" "Autosomal recessive Hereditary sensorimotor neuropathy" "0000317285" "00139" "00426135" "00006" "Familial, autosomal recessive" "17y" "" "" "" "" "" "" "" "" "" "" "" "" "Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development" "intellectual disability" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000016017" "00016101" "1" "00661" "00661" "2014-02-22 19:18:16" "" "" "SEQ" "DNA" "leukocyte" "" "0000016207" "00016289" "1" "00661" "00006" "2014-03-01 16:18:55" "" "" "SEQ" "DNA" "leukocyte" "" "0000016208" "00016290" "1" "00661" "00006" "2014-03-01 16:18:55" "" "" "SEQ" "DNA" "leukocyte" "" "0000165492" "00164628" "1" "02493" "02493" "2018-06-02 01:57:26" "" "" "SEQ-NG-IT" "DNA" "" "" "0000165509" "00164645" "1" "00006" "00006" "2018-06-02 19:04:32" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000398557" "00397317" "1" "04212" "04212" "2021-12-20 14:38:48" "00006" "2021-12-27 15:32:06" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000405298" "00404059" "1" "00435" "00435" "2022-02-25 16:39:31" "" "" "SEQ" "DNA" "blood" "" "0000427455" "00426135" "1" "00006" "00006" "2022-11-28 11:02:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000016017" "MCM3AP" "0000016207" "MCM3AP" "0000016208" "MCM3AP" "0000165509" "MCM3AP" "0000398557" "MCM3AP" "0000405298" "MCM3AP" ## 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}}" "0000035707" "0" "75" "21" "47704083" "47704092" "del" "0" "00661" "MCM3AP_000001" "g.47704083_47704092del" "1/192 cases" "" "" "1110_1119delAGAAAGTGAC" "variant marked as interesting (probably affects gene function with phenotypic consequences) but have not yet sufficient evidence to publish - please contact me" "Germline" "?" "" "1" "" "" "g.46284169_46284178del" "" "likely pathogenic" "" "0000035930" "1" "55" "21" "47662842" "47662842" "subst" "5.50372E-5" "00661" "MCM3AP_000003" "g.47662842G>A" "1/192 cases" "" "" "" "variant marked as interesting (probably affects gene function with phenotypic consequences) but have not yet sufficient evidence to publish - please contact me" "Unknown" "" "" "1" "" "" "g.46242928G>A" "" "VUS" "" "0000035931" "1" "55" "21" "47692529" "47692529" "subst" "0.000121833" "00661" "MCM3AP_000002" "g.47692529G>A" "1/192 cases" "" "" "" "variant marked as interesting (probably affects gene function with phenotypic consequences) but have not yet sufficient evidence to publish - please contact me" "Unknown" "" "rs369099987" "1" "" "" "g.46272615G>A" "" "VUS" "" "0000075725" "0" "50" "21" "47703645" "47703645" "subst" "4.06062E-5" "01373" "MCM3AP_000004" "g.47703645G>A" "" "" "" "" "" "De novo" "" "rs202234966" "0" "" "" "g.46283731G>A" "" "VUS" "" "0000291239" "0" "50" "21" "47648487" "47648487" "subst" "0" "01943" "LSS_000008" "g.47648487T>C" "" "" "" "LSS(NM_002340.6):c.41A>G (p.Y14C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46228573T>C" "" "VUS" "" "0000291240" "0" "50" "21" "47648479" "47648479" "subst" "0" "01943" "LSS_000007" "g.47648479C>T" "" "" "" "LSS(NM_002340.6):c.49G>A (p.E17K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46228565C>T" "" "VUS" "" "0000291595" "0" "30" "21" "47703705" "47703705" "subst" "0.00165275" "01943" "MCM3AP_000011" "g.47703705T>C" "" "" "" "MCM3AP(NM_003906.4):c.1267A>G (p.T423A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46283791T>C" "" "likely benign" "" "0000291596" "0" "30" "21" "47705069" "47705069" "subst" "4.06088E-6" "01943" "MCM3AP_000016" "g.47705069G>A" "" "" "" "MCM3AP(NM_003906.4):c.132C>T (p.T44=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46285155G>A" "" "likely benign" "" "0000291597" "0" "30" "21" "47705064" "47705064" "subst" "5.27936E-5" "01943" "MCM3AP_000015" "g.47705064G>A" "" "" "" "MCM3AP(NM_003906.4):c.137C>T (p.S46F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46285150G>A" "" "likely benign" "" "0000291598" "0" "30" "21" "47681209" "47681209" "subst" "4.06167E-6" "01943" "MCM3AP_000009" "g.47681209C>T" "" "" "" "MCM3AP(NM_003906.4):c.3452G>A (p.R1151Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46261295C>T" "" "likely benign" "" "0000291599" "0" "30" "21" "47663626" "47663626" "subst" "8.19075E-5" "01943" "MCM3AP_000006" "g.47663626G>A" "" "" "" "MCM3AP(NM_003906.4):c.5049C>T (p.L1683=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46243712G>A" "" "likely benign" "" "0000291600" "0" "30" "21" "47704695" "47704695" "subst" "0" "01943" "MCM3AP_000014" "g.47704695C>T" "" "" "" "MCM3AP(NM_003906.4):c.506G>A (p.S169N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46284781C>T" "" "likely benign" "" "0000291601" "0" "50" "21" "47662759" "47662759" "subst" "0.00032937" "01943" "MCM3AP_000005" "g.47662759C>T" "" "" "" "MCM3AP(NM_003906.4):c.5383G>A (p.A1795T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46242845C>T" "" "VUS" "" "0000291602" "0" "30" "21" "47704203" "47704203" "subst" "0.000255863" "01943" "MCM3AP_000013" "g.47704203C>A" "" "" "" "MCM3AP(NM_003906.4):c.998G>T (p.R333L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46284289C>A" "" "likely benign" "" "0000328765" "0" "50" "21" "47671440" "47671440" "subst" "0" "01804" "MCM3AP_000007" "g.47671440C>A" "" "" "" "MCM3AP(NM_003906.3):c.4290+3G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46251526C>A" "" "VUS" "" "0000328766" "0" "50" "21" "47680811" "47680812" "del" "2.03069E-5" "01804" "MCM3AP_000008" "g.47680811_47680812del" "" "" "" "MCM3AP(NM_003906.3):c.3476_3477del (p.(Gln1159ArgfsTer8))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46260897_46260898del" "" "VUS" "" "0000328768" "0" "30" "21" "47703734" "47703734" "subst" "0.00834688" "01804" "MCM3AP_000012" "g.47703734G>A" "" "" "" "MCM3AP(NM_003906.3):c.1238C>T (p.(Pro413Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46283820G>A" "" "likely benign" "" "0000338236" "0" "10" "21" "47705237" "47705237" "subst" "0.441524" "02327" "MCM3AP_000020" "g.47705237T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46285323T>C" "" "benign" "" "0000340154" "0" "10" "21" "47676711" "47676711" "subst" "0.410372" "02327" "MCM3AP_000018" "g.47676711G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46256797G>A" "" "benign" "" "0000340155" "0" "10" "21" "47685939" "47685939" "subst" "0.457132" "02327" "MCM3AP_000019" "g.47685939A>G" "" "" "" "MCM3AP(NM_003906.5):c.2931T>C (p.H977=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46266025A>G" "" "benign" "" "0000369157" "11" "70" "21" "47690328" "47690328" "subst" "0" "02493" "MCM3AP_000021" "g.47690328C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.46270414C>T" "" "likely pathogenic" "" "0000369175" "3" "70" "21" "47686942" "47686942" "subst" "0" "00006" "MCM3AP_000022" "g.47686942C>T" "" "{PMID:Schuurs-Hoeijmakers 2013:24123876}" "" "" "" "Germline" "yes" "" "0" "" "" "g.46267028C>T" "" "likely pathogenic" "" "0000571087" "0" "50" "21" "47663564" "47663564" "subst" "0" "01943" "MCM3AP_000023" "g.47663564G>C" "" "" "" "MCM3AP(NM_003906.4):c.5111C>G (p.P1704R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46243650G>C" "" "VUS" "" "0000571088" "0" "30" "21" "47685317" "47685317" "subst" "0.00545977" "01943" "MCM3AP_000024" "g.47685317G>A" "" "" "" "MCM3AP(NM_003906.4):c.3152C>T (p.P1051L), MCM3AP(NM_003906.5):c.3152C>T (p.P1051L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46265403G>A" "" "likely benign" "" "0000571089" "0" "30" "21" "47685436" "47685436" "subst" "0.000204246" "01943" "MCM3AP_000025" "g.47685436G>A" "" "" "" "MCM3AP(NM_003906.4):c.3033C>T (p.G1011=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46265522G>A" "" "likely benign" "" "0000571090" "0" "70" "21" "47686942" "47686942" "subst" "0" "02327" "MCM3AP_000022" "g.47686942C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46267028C>T" "" "likely pathogenic" "" "0000571091" "0" "50" "21" "47690479" "47690479" "subst" "4.42623E-6" "02327" "MCM3AP_000026" "g.47690479T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46270565T>C" "" "VUS" "" "0000571092" "0" "30" "21" "47704953" "47704953" "subst" "0" "01943" "C21orf58_000004" "g.47704953G>T" "" "" "" "MCM3AP(NM_003906.4):c.248C>A (p.P83H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46285039G>T" "" "likely benign" "" "0000618429" "0" "50" "21" "47655342" "47655342" "dup" "0" "01943" "MCM3AP_000027" "g.47655342dup" "" "" "" "MCM3AP(NM_003906.4):c.5785-2dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46235428dup" "" "VUS" "" "0000658861" "0" "50" "21" "47674759" "47674759" "subst" "1.2185E-5" "01943" "MCM3AP_000028" "g.47674759C>A" "" "" "" "MCM3AP(NM_003906.4):c.3933-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46254845C>A" "" "VUS" "" "0000693085" "0" "30" "21" "47664746" "47664746" "subst" "0.00249638" "01943" "MCM3AP_000029" "g.47664746C>T" "" "" "" "MCM3AP(NM_003906.4):c.5013G>A (p.P1671=), MCM3AP(NM_003906.5):c.5013G>A (p.P1671=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728001" "0" "50" "21" "47648418" "47648418" "subst" "0" "01943" "LSS_000026" "g.47648418G>C" "" "" "" "LSS(NM_002340.6):c.110C>G (p.T37S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46228504G>C" "" "VUS" "" "0000728002" "0" "30" "21" "47685435" "47685435" "subst" "0.000179608" "01943" "MCM3AP_000030" "g.47685435C>T" "" "" "" "MCM3AP(NM_003906.4):c.3034G>A (p.G1012R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728003" "0" "30" "21" "47699944" "47699944" "subst" "0.000341294" "01943" "MCM3AP_000031" "g.47699944C>T" "" "" "" "MCM3AP(NM_003906.4):c.1630G>A (p.A544T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809450" "0" "50" "21" "47676863" "47676863" "subst" "0" "01943" "MCM3AP_000032" "g.47676863G>A" "" "" "" "MCM3AP(NM_003906.4):c.3772C>T (p.R1258C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809451" "0" "30" "21" "47685300" "47685300" "subst" "1.6264E-5" "01943" "MCM3AP_000033" "g.47685300G>A" "" "" "" "MCM3AP(NM_003906.4):c.3169C>T (p.L1057F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000830772" "21" "90" "21" "47656894" "47656894" "subst" "0" "04212" "MCM3AP_000034" "g.47656894C>A" "" "{PMID:Dong 2020:32319184}" "" "" "" "Germline" "" "" "0" "" "" "g.46236980C>A" "" "pathogenic (recessive)" "" "0000831177" "11" "90" "21" "47687052" "47687052" "subst" "1.23145E-5" "04212" "MCM3AP_000035" "g.47687052C>T" "" "{PMID:Dong 2020:32319184}" "" "" "" "Germline" "" "" "0" "" "" "g.46267138C>T" "" "pathogenic (recessive)" "" "0000841376" "3" "90" "21" "47690334" "47690334" "subst" "0" "00435" "MCM3AP_000036" "g.47690334A>G" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "" "0000856043" "0" "10" "21" "47666744" "47666744" "subst" "0.0476923" "02330" "MCM3AP_000037" "g.47666744G>T" "" "" "" "MCM3AP(NM_003906.5):c.4347C>A (p.D1449E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856044" "0" "10" "21" "47685939" "47685939" "subst" "0.457132" "02330" "MCM3AP_000019" "g.47685939A>G" "" "" "" "MCM3AP(NM_003906.5):c.2931T>C (p.H977=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856045" "0" "10" "21" "47692531" "47692531" "subst" "0.0458887" "02330" "MCM3AP_000038" "g.47692531T>C" "" "" "" "MCM3AP(NM_003906.5):c.2409A>G (p.E803=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856046" "0" "10" "21" "47703649" "47703649" "subst" "0.332453" "02330" "C21orf58_000009" "g.47703649G>A" "" "" "" "MCM3AP(NM_003906.5):c.1323C>T (p.N441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856047" "0" "10" "21" "47704896" "47704896" "subst" "0.319369" "02330" "C21orf58_000012" "g.47704896G>A" "" "" "" "MCM3AP(NM_003906.5):c.305C>T (p.S102L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000866696" "0" "50" "21" "47704015" "47704015" "subst" "0.000724137" "01943" "C21orf58_000010" "g.47704015C>T" "" "" "" "MCM3AP(NM_003906.4):c.1186G>A (p.E396K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866697" "0" "10" "21" "47704253" "47704253" "subst" "0.00428593" "02330" "C21orf58_000011" "g.47704253G>C" "" "" "" "MCM3AP(NM_003906.5):c.948C>G (p.S316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000895555" "0" "10" "21" "47662710" "47662710" "subst" "0.00188176" "02330" "MCM3AP_000039" "g.47662710C>T" "" "" "" "MCM3AP(NM_003906.5):c.5426+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000895556" "0" "30" "21" "47663470" "47663470" "subst" "4.87417E-5" "02330" "MCM3AP_000040" "g.47663470C>T" "" "" "" "MCM3AP(NM_003906.5):c.5205G>A (p.S1735=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895557" "0" "50" "21" "47663478" "47663478" "subst" "0.00011778" "02330" "MCM3AP_000041" "g.47663478C>A" "" "" "" "MCM3AP(NM_003906.5):c.5197G>T (p.G1733C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895558" "0" "50" "21" "47666700" "47666700" "subst" "0.000138091" "02330" "MCM3AP_000042" "g.47666700A>G" "" "" "" "MCM3AP(NM_003906.5):c.4391T>C (p.M1464T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895559" "0" "30" "21" "47674751" "47674751" "subst" "0.00168978" "02330" "MCM3AP_000043" "g.47674751G>A" "" "" "" "MCM3AP(NM_003906.5):c.3940C>T (p.R1314W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895560" "0" "10" "21" "47685317" "47685317" "subst" "0.00545977" "02330" "MCM3AP_000024" "g.47685317G>A" "" "" "" "MCM3AP(NM_003906.4):c.3152C>T (p.P1051L), MCM3AP(NM_003906.5):c.3152C>T (p.P1051L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000895561" "0" "30" "21" "47700071" "47700071" "subst" "0.00147076" "02330" "MCM3AP_000044" "g.47700071A>G" "" "" "" "MCM3AP(NM_003906.5):c.1523-20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895562" "0" "50" "21" "47704224" "47704224" "subst" "0" "02330" "C21orf58_000014" "g.47704224G>A" "" "" "" "MCM3AP(NM_003906.5):c.977C>T (p.P326L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000904815" "3" "70" "21" "47686009" "47686009" "subst" "0" "00006" "MCM3AP_000045" "g.47686009A>G" "" "{PMID:Al-Kasbi 2022:36344539}" "" "" "" "Germline" "" "" "0" "" "" "g.46266095A>G" "" "VUS" "" "0000915473" "0" "50" "21" "47663633" "47663633" "subst" "2.46502E-5" "02330" "MCM3AP_000046" "g.47663633G>C" "" "" "" "MCM3AP(NM_003906.5):c.5042C>G (p.P1681R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915474" "0" "10" "21" "47664746" "47664746" "subst" "0.00249638" "02330" "MCM3AP_000029" "g.47664746C>T" "" "" "" "MCM3AP(NM_003906.4):c.5013G>A (p.P1671=), MCM3AP(NM_003906.5):c.5013G>A (p.P1671=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000927104" "0" "10" "21" "47686037" "47686037" "subst" "0.00657648" "02330" "MCM3AP_000047" "g.47686037A>C" "" "" "" "MCM3AP(NM_003906.5):c.2833T>G (p.L945V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000951525" "0" "10" "21" "47660867" "47660867" "subst" "0.00252628" "02330" "MCM3AP_000048" "g.47660867G>A" "" "" "" "MCM3AP(NM_003906.5):c.5491C>T (p.R1831C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000970353" "0" "70" "21" "47695166" "47695166" "del" "0" "02330" "MCM3AP_000049" "g.47695166del" "" "" "" "MCM3AP(NM_003906.5):c.1933delG (p.E645Rfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000984056" "0" "30" "21" "47655298" "47655298" "subst" "2.84423E-5" "01804" "MCM3AP_000050" "g.47655298C>G" "" "" "" "MCM3AP(NM_003906.5):c.5827G>C (p.(Gly1943Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984057" "0" "70" "21" "47663403" "47663403" "dup" "0" "01804" "MCM3AP_000051" "g.47663403dup" "" "" "" "MCM3AP(NM_003906.5):c.5278dup (p.(Arg1760ProfsTer11))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000984058" "0" "70" "21" "47674741" "47674742" "ins" "0" "02330" "MCM3AP_000052" "g.47674741_47674742insC" "" "" "" "MCM3AP(NM_003906.5):c.3949_3950insG (p.N1317Rfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000984059" "0" "50" "21" "47692595" "47692595" "subst" "0" "02330" "MCM3AP_000053" "g.47692595C>T" "" "" "" "MCM3AP(NM_003906.5):c.2345G>A (p.C782Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005848" "0" "90" "21" "47648487" "47648487" "subst" "0" "02327" "LSS_000008" "g.47648487T>C" "" "" "" "LSS(NM_002340.6):c.41A>G (p.Y14C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46228573T>C" "" "pathogenic" "" "0001005849" "0" "70" "21" "47676821" "47676821" "subst" "0.000284313" "02327" "MCM3AP_000054" "g.47676821C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001005850" "0" "30" "21" "47685404" "47685404" "subst" "4.55993E-5" "01804" "MCM3AP_000055" "g.47685404G>A" "" "" "" "MCM3AP(NM_003906.3):c.3065C>T (p.(Pro1022Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005851" "0" "70" "21" "47687052" "47687052" "subst" "1.23145E-5" "01804" "MCM3AP_000035" "g.47687052C>T" "" "" "" "MCM3AP(NM_003906.3):c.2633G>A (p.(Arg878His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001005852" "0" "30" "21" "47704855" "47704855" "subst" "4.87583E-5" "01804" "C21orf58_000018" "g.47704855T>C" "" "" "" "MCM3AP(NM_003906.3):c.346A>G (p.(Thr116Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005853" "0" "50" "21" "47705001" "47705001" "subst" "1.62427E-5" "01804" "C21orf58_000019" "g.47705001G>A" "" "" "" "MCM3AP(NM_003906.3):c.200C>T (p.(Ser67Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015907" "0" "30" "21" "47655302" "47655302" "subst" "0.000548571" "02330" "MCM3AP_000056" "g.47655302C>G" "" "" "" "MCM3AP(NM_003906.5):c.5823G>C (p.A1941=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043674" "0" "30" "21" "47681332" "47681332" "subst" "2.03472E-5" "01804" "MCM3AP_000057" "g.47681332G>A" "" "" "" "MCM3AP(NM_003906.5):c.3336-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046801" "0" "30" "21" "47662710" "47662710" "subst" "0.00188176" "02326" "MCM3AP_000039" "g.47662710C>T" "" "" "" "MCM3AP(NM_003906.5):c.5426+6G>A" "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 MCM3AP ## 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}}" "0000035707" "00011907" "75" "1110" "0" "1119" "0" "c.1110_1119del" "r.(?)" "p.(Glu371Thrfs*20)" "1" "0000035930" "00011907" "55" "5300" "0" "5300" "0" "c.5300C>T" "r.(?)" "p.(Ala1767Val)" "25" "0000035931" "00011907" "55" "2411" "0" "2411" "0" "c.2411C>T" "r.(?)" "p.(Ala804Val)" "8" "0000075725" "00011907" "50" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Pro443Ser)" "2" "0000291239" "00011907" "50" "12638" "0" "12638" "0" "c.*6695A>G" "r.(=)" "p.(=)" "" "0000291240" "00011907" "50" "12646" "0" "12646" "0" "c.*6703G>A" "r.(=)" "p.(=)" "" "0000291595" "00011907" "30" "1267" "0" "1267" "0" "c.1267A>G" "r.(?)" "p.(Thr423Ala)" "" "0000291596" "00011907" "30" "132" "0" "132" "0" "c.132C>T" "r.(?)" "p.(Thr44=)" "" "0000291597" "00011907" "30" "137" "0" "137" "0" "c.137C>T" "r.(?)" "p.(Ser46Phe)" "" "0000291598" "00011907" "30" "3452" "0" "3452" "0" "c.3452G>A" "r.(?)" "p.(Arg1151Gln)" "" "0000291599" "00011907" "30" "5049" "0" "5049" "0" "c.5049C>T" "r.(?)" "p.(Leu1683=)" "" "0000291600" "00011907" "30" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Ser169Asn)" "" "0000291601" "00011907" "50" "5383" "0" "5383" "0" "c.5383G>A" "r.(?)" "p.(Ala1795Thr)" "" "0000291602" "00011907" "30" "998" "0" "998" "0" "c.998G>T" "r.(?)" "p.(Arg333Leu)" "" "0000328765" "00011907" "50" "4290" "3" "4290" "3" "c.4290+3G>T" "r.spl?" "p.?" "" "0000328766" "00011907" "50" "3476" "0" "3477" "0" "c.3476_3477del" "r.(?)" "p.(Gln1159ArgfsTer8)" "" "0000328768" "00011907" "30" "1238" "0" "1238" "0" "c.1238C>T" "r.(?)" "p.(Pro413Leu)" "" "0000338236" "00011907" "10" "-37" "0" "-37" "0" "c.-37A>G" "r.(?)" "p.(=)" "" "0000340154" "00011907" "10" "3924" "0" "3924" "0" "c.3924C>T" "r.(?)" "p.(Ser1308=)" "" "0000340155" "00011907" "10" "2931" "0" "2931" "0" "c.2931T>C" "r.(?)" "p.(His977=)" "" "0000369157" "00011907" "70" "2615" "0" "2615" "0" "c.2615G>A" "r.(?)" "p.(Cys872Tyr)" "9" "0000369175" "00011907" "70" "2743" "0" "2743" "0" "c.2743G>A" "r.(?)" "p.(Glu915Lys)" "" "0000571087" "00011907" "50" "5111" "0" "5111" "0" "c.5111C>G" "r.(?)" "p.(Pro1704Arg)" "" "0000571088" "00011907" "30" "3152" "0" "3152" "0" "c.3152C>T" "r.(?)" "p.(Pro1051Leu)" "" "0000571089" "00011907" "30" "3033" "0" "3033" "0" "c.3033C>T" "r.(?)" "p.(Gly1011=)" "" "0000571090" "00011907" "70" "2743" "0" "2743" "0" "c.2743G>A" "r.(?)" "p.(Glu915Lys)" "" "0000571091" "00011907" "50" "2466" "-2" "2466" "-2" "c.2466-2A>G" "r.spl?" "p.?" "" "0000571092" "00011907" "30" "248" "0" "248" "0" "c.248C>A" "r.(?)" "p.(Pro83His)" "" "0000618429" "00011907" "50" "5785" "-2" "5785" "-2" "c.5785-2dup" "r.spl?" "p.?" "" "0000658861" "00011907" "50" "3933" "-1" "3933" "-1" "c.3933-1G>T" "r.spl?" "p.?" "" "0000693085" "00011907" "30" "5013" "0" "5013" "0" "c.5013G>A" "r.(?)" "p.(Pro1671=)" "" "0000728001" "00011907" "50" "12707" "0" "12707" "0" "c.*6764C>G" "r.(=)" "p.(=)" "" "0000728002" "00011907" "30" "3034" "0" "3034" "0" "c.3034G>A" "r.(?)" "p.(Gly1012Arg)" "" "0000728003" "00011907" "30" "1630" "0" "1630" "0" "c.1630G>A" "r.(?)" "p.(Ala544Thr)" "" "0000809450" "00011907" "50" "3772" "0" "3772" "0" "c.3772C>T" "r.(?)" "p.(Arg1258Cys)" "" "0000809451" "00011907" "30" "3169" "0" "3169" "0" "c.3169C>T" "r.(?)" "p.(Leu1057Phe)" "" "0000830772" "00011907" "90" "5634" "-1" "5634" "-1" "c.5634-1G>T" "r.5634_5718del" "p.Phe1879Leufs*2" "26i" "0000831177" "00011907" "90" "2633" "0" "2633" "0" "c.2633G>A" "r.(?)" "p.(Arg878His)" "10" "0000841376" "00011907" "90" "2609" "0" "2609" "0" "c.2609T>C" "r.(?)" "p.(Leu870Ser)" "9" "0000856043" "00011907" "10" "4347" "0" "4347" "0" "c.4347C>A" "r.(?)" "p.(Asp1449Glu)" "" "0000856044" "00011907" "10" "2931" "0" "2931" "0" "c.2931T>C" "r.(?)" "p.(His977=)" "" "0000856045" "00011907" "10" "2409" "0" "2409" "0" "c.2409A>G" "r.(?)" "p.(Glu803=)" "" "0000856046" "00011907" "10" "1323" "0" "1323" "0" "c.1323C>T" "r.(?)" "p.(Asn441=)" "" "0000856047" "00011907" "10" "305" "0" "305" "0" "c.305C>T" "r.(?)" "p.(Ser102Leu)" "" "0000866696" "00011907" "50" "1186" "0" "1186" "0" "c.1186G>A" "r.(?)" "p.(Glu396Lys)" "" "0000866697" "00011907" "10" "948" "0" "948" "0" "c.948C>G" "r.(?)" "p.(Ser316=)" "" "0000895555" "00011907" "10" "5426" "6" "5426" "6" "c.5426+6G>A" "r.(=)" "p.(=)" "" "0000895556" "00011907" "30" "5205" "0" "5205" "0" "c.5205G>A" "r.(?)" "p.(Ser1735=)" "" "0000895557" "00011907" "50" "5197" "0" "5197" "0" "c.5197G>T" "r.(?)" "p.(Gly1733Cys)" "" "0000895558" "00011907" "50" "4391" "0" "4391" "0" "c.4391T>C" "r.(?)" "p.(Met1464Thr)" "" "0000895559" "00011907" "30" "3940" "0" "3940" "0" "c.3940C>T" "r.(?)" "p.(Arg1314Trp)" "" "0000895560" "00011907" "10" "3152" "0" "3152" "0" "c.3152C>T" "r.(?)" "p.(Pro1051Leu)" "" "0000895561" "00011907" "30" "1523" "-20" "1523" "-20" "c.1523-20T>C" "r.(=)" "p.(=)" "" "0000895562" "00011907" "50" "977" "0" "977" "0" "c.977C>T" "r.(?)" "p.(Pro326Leu)" "" "0000904815" "00011907" "70" "2861" "0" "2861" "0" "c.2861T>C" "r.(?)" "p.(Ile954Thr)" "" "0000915473" "00011907" "50" "5042" "0" "5042" "0" "c.5042C>G" "r.(?)" "p.(Pro1681Arg)" "" "0000915474" "00011907" "10" "5013" "0" "5013" "0" "c.5013G>A" "r.(?)" "p.(Pro1671=)" "" "0000927104" "00011907" "10" "2833" "0" "2833" "0" "c.2833T>G" "r.(?)" "p.(Leu945Val)" "" "0000951525" "00011907" "10" "5491" "0" "5491" "0" "c.5491C>T" "r.(?)" "p.(Arg1831Cys)" "" "0000970353" "00011907" "70" "1933" "0" "1933" "0" "c.1933del" "r.(?)" "p.(Glu645Argfs*11)" "" "0000984056" "00011907" "30" "5827" "0" "5827" "0" "c.5827G>C" "r.(?)" "p.(Gly1943Arg)" "" "0000984057" "00011907" "70" "5278" "0" "5278" "0" "c.5278dup" "r.(?)" "p.(Arg1760Profs*11)" "" "0000984058" "00011907" "70" "3949" "0" "3950" "0" "c.3949_3950insG" "r.(?)" "p.(Asn1317Argfs*19)" "" "0000984059" "00011907" "50" "2345" "0" "2345" "0" "c.2345G>A" "r.(?)" "p.(Cys782Tyr)" "" "0001005848" "00011907" "90" "12638" "0" "12638" "0" "c.*6695A>G" "r.(=)" "p.(=)" "" "0001005849" "00011907" "70" "3814" "0" "3814" "0" "c.3814G>A" "r.(?)" "p.(Val1272Met)" "" "0001005850" "00011907" "30" "3065" "0" "3065" "0" "c.3065C>T" "r.(?)" "p.(Pro1022Leu)" "" "0001005851" "00011907" "70" "2633" "0" "2633" "0" "c.2633G>A" "r.(?)" "p.(Arg878His)" "" "0001005852" "00011907" "30" "346" "0" "346" "0" "c.346A>G" "r.(?)" "p.(Thr116Ala)" "" "0001005853" "00011907" "50" "200" "0" "200" "0" "c.200C>T" "r.(?)" "p.(Ser67Phe)" "" "0001015907" "00011907" "30" "5823" "0" "5823" "0" "c.5823G>C" "r.(?)" "p.(=)" "" "0001043674" "00011907" "30" "3336" "-7" "3336" "-7" "c.3336-7C>T" "r.(=)" "p.(=)" "" "0001046801" "00011907" "30" "5426" "6" "5426" "6" "c.5426+6G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000016017" "0000035707" "0000016207" "0000035930" "0000016208" "0000035931" "0000165492" "0000369157" "0000165509" "0000369175" "0000398557" "0000830772" "0000398557" "0000831177" "0000405298" "0000841376" "0000427455" "0000904815"