### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ANAPC1) # 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}}" "ANAPC1" "anaphase promoting complex subunit 1" "2" "q12.1" "unknown" "NC_000002.11" "UD_134711787932" "" "https://www.LOVD.nl/ANAPC1" "" "1" "19988" "64682" "608473" "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/ANAPC1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-08-11 12:46:15" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00002456" "ANAPC1" "anaphase promoting complex subunit 1" "001" "NM_022662.3" "" "NP_073153.1" "" "" "" "-247" "7489" "5835" "112641741" "112525214" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00054" "RTS2" "Rothmund-Thomson syndrome, type 2," "AR" "268400" "" "" "" "00008" "2012-08-31 10:08:34" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "06489" "RTS1" "Rothmund-Thomson syndrome, type 1" "AR" "618625" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ANAPC1" "00054" "ANAPC1" "06489" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00261179" "" "" "" "1" "" "00006" "{DOI:Ajeawung 2019:10.1016/j.ajhg.2019.06.011}" "2-generation family, 1 affected, unaffected parents" "F" "" "" "" "0" "" "" "" "Pat1" "00261180" "" "" "" "1" "" "00006" "{DOI:Ajeawung 2019:10.1016/j.ajhg.2019.06.011}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "Pat2" "00261181" "" "" "" "2" "" "00006" "{DOI:Ajeawung 2019:10.1016/j.ajhg.2019.06.011}" "2-generation family, 2 affected sisters, unaffected carrier mother" "F" "" "" "" "0" "" "" "" "Fam3PatA" "00261182" "" "" "00261181" "1" "" "00006" "{DOI:Ajeawung 2019:10.1016/j.ajhg.2019.06.011}" "" "F" "" "" "" "0" "" "" "" "Fam3PatB" "00261183" "" "" "" "1" "" "00006" "{DOI:Ajeawung 2019:10.1016/j.ajhg.2019.06.011}" "2-generation family, 1 affected, unaffected carrier mother" "F" "" "" "" "0" "" "" "" "Pat4" "00261184" "" "" "" "1" "" "00006" "{DOI:Ajeawung 2019:10.1016/j.ajhg.2019.06.011}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "" "" "0" "" "" "" "Pat5" "00261185" "" "" "" "2" "" "00006" "{DOI:Ajeawung 2019:10.1016/j.ajhg.2019.06.011}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Fam6PatA" "00261186" "" "" "00261185" "1" "" "00006" "{DOI:Ajeawung 2019:10.1016/j.ajhg.2019.06.011}" "" "M" "" "" "" "0" "" "" "" "Fam6PatB" "00261187" "" "" "" "2" "" "00006" "{DOI:Ajeawung 2019:10.1016/j.ajhg.2019.06.011}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Fam7PatA" "00261188" "" "" "00261187" "1" "" "00006" "{DOI:Ajeawung 2019:10.1016/j.ajhg.2019.06.011}" "" "M" "" "" "" "0" "" "" "" "Fam7PatB" "00386233" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-197, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-442" "00438677" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "F" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSJ0637" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00261179" "00054" "00261180" "00054" "00261181" "00054" "00261182" "00054" "00261183" "00054" "00261184" "00054" "00261185" "00054" "00261186" "00054" "00261187" "00054" "00261188" "00054" "00386233" "04214" "00438677" "06906" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00054, 04214, 06489, 06906 ## Count = 12 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000199685" "00054" "00261179" "00006" "Familial, autosomal recessive" "" "bilateral juvenile cataracts, corneal ulcer, retinal detachment; poikiloderma; cafe-au-lait spots; eczema; osteoporosis, left foot fracture" "" "" "" "" "" "" "" "" "Rothmund-Thomson syndrome" "0000199686" "00054" "00261180" "00006" "Familial, autosomal recessive" "" "bilateral juvenile cataracts; poikiloderma; hyperkaratosis; sparse hair or alopecia; absent eyebrows; premature ovarian failure; no short stature" "" "" "" "" "" "" "" "" "Rothmund-Thomson syndrome" "0000199687" "00054" "00261181" "00006" "Familial, autosomal recessive" "" "bilateral juvenile cataracts; poikiloderma; hyperkaratosis; absent eyebrows; absent eyelashes; no short stature" "" "" "" "" "" "" "" "" "Rothmund-Thomson syndrome" "0000199688" "00054" "00261182" "00006" "Familial, autosomal recessive" "" "bilateral juvenile cataracts; poikiloderma; absent eyebrows; absent eyelashes; premature ovarian failure; no short stature" "" "" "" "" "" "" "" "" "Rothmund-Thomson syndrome" "0000199689" "00054" "00261183" "00006" "Familial, autosomal recessive" "" "bilateral juvenile cataracts; poikiloderma; sparse hair or alopecia; absent eyebrows; absent eyelashes; abnromal teeth; short stature" "" "" "" "" "" "" "" "" "Rothmund-Thomson syndrome" "0000199690" "00054" "00261184" "00006" "Familial, autosomal recessive" "" "bilateral juvenile cataracts, astigmatism; poikiloderma; blistering; photosensitivity; sparse hair or alopecia; absent eyebrows; hypogonadism; undescended testes, micropenis; short stature; growth hormone therapy; mild developmental delay; recurrent otis media; GI disturbance, adenoidal hypertrophy" "" "" "" "" "" "" "" "" "Rothmund-Thomson syndrome" "0000199691" "00054" "00261185" "00006" "Familial, autosomal recessive" "" "bilateral juvenile cataracts, microphthalmia, strabismus; poikiloderma; blistering; sparse hair or alopecia; cone-shaped teeth; dystrophic nails; hypothyroidism; undescended testes; short stature; growth hormone therapy; delayed bone age, short metacarpals/phalanges, dysplastic aspect phalanges, large metaphyses long bones, genu varum; intellectual disability" "" "" "" "" "" "" "" "" "Rothmund-Thomson syndrome" "0000199692" "00054" "00261186" "00006" "Familial, autosomal recessive" "" "bilateral juvenile cataracts, strabismus; poikiloderma; sparse hair or alopecia; cone-shaped teeth; dystrophic nails; hypothyroidism; undescended testes; short stature; growth hormone therapy; delayed bone age, short metacarpals/phalanges; attention-deficit hyperactivity disorder" "" "" "" "" "" "" "" "" "Rothmund-Thomson syndrome" "0000199693" "00054" "00261187" "00006" "Familial, autosomal recessive" "" "bilateral juvenile cataracts; poikiloderma; hyperkaratosis; blistering; cafe-au-lait spots; sparse hair or alopecia; absent eyebrows; absent eyelashes; small pointy teeth with caries; thin nails; undescended testes; short stature; growth hormone therapy; arm fracture (never healed properly), punctate sclerotic foci multiple metaphyses; recurrent otis media; history of hearing loss improved after PET placement" "" "" "" "" "" "" "" "" "Rothmund-Thomson syndrome" "0000199694" "00054" "00261188" "00006" "Familial, autosomal recessive" "" "bilateral juvenile cataracts, lens detachment, photodysphoria, filamentary keratitis; poikiloderma; hyperkaratosis; blistering; cafe-au-lait spots; warts; sparse hair or alopecia; absent eyebrows; absent eyelashes; small misshaped teeth with caries; thin nails; undescended testes; short stature; growth hormone therapy; right arm fixed flexion deformity" "" "" "" "" "" "" "" "" "Rothmund-Thomson syndrome" "0000280036" "04214" "00386233" "00000" "Familial, autosomal recessive" "32y" "" "" "12y" "" "" "" "" "" "early onset retinitis pigmentosa" "" "0000328580" "06906" "00438677" "00006" "Isolated (sporadic)" "09y06m" "see paper; ..., severe global developmental delay, severe intellectual disability; 4m-seizures; EEG modified hypsarrhythmia, myoclonic, diffuse slowing with myoclonic spikes; MRI brain atrophy, partial agenesis corpus callosum, delayed myelination, decreased N-acetylaspartate; acquired microcephaly, axial hypotonia" "" "" "" "" "" "" "" "" "infantile spasms" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000262285" "00261179" "1" "00006" "00006" "2019-08-11 13:19:15" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000262286" "00261180" "1" "00006" "00006" "2019-08-11 13:19:15" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000262287" "00261181" "1" "00006" "00006" "2019-08-11 13:19:15" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000262288" "00261182" "1" "00006" "00006" "2019-08-11 13:19:15" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000262289" "00261183" "1" "00006" "00006" "2019-08-11 13:19:15" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000262290" "00261184" "1" "00006" "00006" "2019-08-11 13:19:15" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000262291" "00261185" "1" "00006" "00006" "2019-08-11 13:19:15" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000262292" "00261186" "1" "00006" "00006" "2019-08-11 13:19:15" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000262293" "00261187" "1" "00006" "00006" "2019-08-11 13:19:15" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000262294" "00261188" "1" "00006" "00006" "2019-08-11 13:19:15" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000387462" "00386233" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000440159" "00438677" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{geneid}}" "0000262285" "ANAPC1" "0000262286" "ANAPC1" "0000262287" "ANAPC1" "0000262288" "ANAPC1" "0000262289" "ANAPC1" "0000262290" "ANAPC1" "0000262291" "ANAPC1" "0000262292" "ANAPC1" "0000262293" "ANAPC1" "0000262294" "ANAPC1" "0000387462" "MERTK" ## 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 = 31 "{{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}}" "0000508954" "0" "30" "2" "112534646" "112534652" "del" "0" "01804" "ANAPC1_000001" "g.112534646_112534652del" "" "" "" "ANAPC1(NM_022662.3):c.5386-11_5386-5del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111777069_111777075del" "" "likely benign" "" "0000508958" "0" "50" "2" "112630273" "112630273" "subst" "0.000252252" "01804" "ANAPC1_000005" "g.112630273G>A" "" "" "" "ANAPC1(NM_022662.4):c.545C>T (p.(Pro182Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111872696G>A" "" "VUS" "" "0000592569" "3" "90" "2" "112582942" "112582942" "subst" "0" "00006" "ANAPC1_000007" "g.112582942G>A" "" "{DOI:Ajeawung 2019:10.1016/j.ajhg.2019.06.011}" "" "" "" "Germline" "" "" "0" "" "" "g.111825365G>A" "" "pathogenic (recessive)" "" "0000592570" "3" "90" "2" "112582942" "112582942" "subst" "0" "00006" "ANAPC1_000007" "g.112582942G>A" "" "{DOI:Ajeawung 2019:10.1016/j.ajhg.2019.06.011}" "" "" "" "Germline" "" "" "0" "" "" "g.111825365G>A" "" "pathogenic (recessive)" "" "0000592571" "3" "90" "2" "112582942" "112582942" "subst" "0" "00006" "ANAPC1_000007" "g.112582942G>A" "" "{DOI:Ajeawung 2019:10.1016/j.ajhg.2019.06.011}" "" "" "" "Germline" "" "" "0" "" "" "g.111825365G>A" "" "pathogenic (recessive)" "" "0000592572" "3" "90" "2" "112582942" "112582942" "subst" "0" "00006" "ANAPC1_000007" "g.112582942G>A" "" "{DOI:Ajeawung 2019:10.1016/j.ajhg.2019.06.011}" "" "" "" "Germline" "" "" "0" "" "" "g.111825365G>A" "" "pathogenic (recessive)" "" "0000592573" "3" "90" "2" "112582942" "112582942" "subst" "0" "00006" "ANAPC1_000007" "g.112582942G>A" "" "{DOI:Ajeawung 2019:10.1016/j.ajhg.2019.06.011}" "" "" "" "Germline" "" "" "0" "" "" "g.111825365G>A" "" "pathogenic (recessive)" "" "0000592574" "21" "90" "2" "112582942" "112582942" "subst" "0" "00006" "ANAPC1_000007" "g.112582942G>A" "" "{DOI:Ajeawung 2019:10.1016/j.ajhg.2019.06.011}" "" "" "" "Germline" "" "" "0" "" "" "g.111825365G>A" "" "pathogenic (recessive)" "" "0000592575" "21" "90" "2" "112582942" "112582942" "subst" "0" "00006" "ANAPC1_000007" "g.112582942G>A" "" "{DOI:Ajeawung 2019:10.1016/j.ajhg.2019.06.011}" "" "" "" "Germline" "" "" "0" "" "" "g.111825365G>A" "" "pathogenic (recessive)" "" "0000592576" "21" "90" "2" "112582942" "112582942" "subst" "0" "00006" "ANAPC1_000007" "g.112582942G>A" "" "{DOI:Ajeawung 2019:10.1016/j.ajhg.2019.06.011}" "" "" "" "Germline" "" "" "0" "" "" "g.111825365G>A" "" "pathogenic (recessive)" "" "0000592577" "21" "90" "2" "112582942" "112582942" "subst" "0" "00006" "ANAPC1_000007" "g.112582942G>A" "" "{DOI:Ajeawung 2019:10.1016/j.ajhg.2019.06.011}" "" "" "" "Germline" "yes" "" "0" "" "" "g.111825365G>A" "" "pathogenic (recessive)" "" "0000592578" "21" "90" "2" "112582942" "112582942" "subst" "0" "00006" "ANAPC1_000007" "g.112582942G>A" "" "{DOI:Ajeawung 2019:10.1016/j.ajhg.2019.06.011}" "" "" "" "Germline" "yes" "" "0" "" "" "g.111825365G>A" "" "pathogenic (recessive)" "" "0000592579" "10" "90" "2" "112542973" "112542974" "del" "0" "00006" "ANAPC1_000006" "g.112542973_112542974del" "" "{DOI:Ajeawung 2019:10.1016/j.ajhg.2019.06.011}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.111785396_111785397del" "" "pathogenic (recessive)" "" "0000592580" "11" "90" "2" "112605316" "112605316" "dup" "0" "00006" "ANAPC1_000008" "g.112605316dup" "" "{DOI:Ajeawung 2019:10.1016/j.ajhg.2019.06.011}" "" "1778dupA" "" "Germline" "yes" "" "0" "" "" "g.111847739dup" "" "pathogenic (recessive)" "" "0000592581" "11" "90" "2" "112605316" "112605316" "dup" "0" "00006" "ANAPC1_000008" "g.112605316dup" "" "{DOI:Ajeawung 2019:10.1016/j.ajhg.2019.06.011}" "" "" "" "Germline" "yes" "" "0" "" "1778dupA" "g.111847739dup" "" "pathogenic (recessive)" "" "0000592582" "11" "70" "2" "112552394" "112552394" "subst" "0" "00006" "ANAPC1_000009" "g.112552394C>T" "" "{DOI:Ajeawung 2019:10.1016/j.ajhg.2019.06.011}" "" "" "" "Germline" "yes" "" "0" "" "" "g.111794817C>T" "" "pathogenic (recessive)" "" "0000592583" "11" "70" "2" "112552394" "112552394" "subst" "0" "00006" "ANAPC1_000009" "g.112552394C>T" "" "{DOI:Ajeawung 2019:10.1016/j.ajhg.2019.06.011}" "" "" "" "Germline" "yes" "" "0" "" "" "g.111794817C>T" "" "pathogenic (recessive)" "" "0000815498" "0" "90" "2" "111371701" "113132395" "del" "0" "00000" "ACOXL_000006" "g.111371701_113132395del" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "MERTK:NM_006343," "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.110614124_112374818del" "" "pathogenic" "ACMG" "0000936317" "0" "50" "2" "112605316" "112605316" "subst" "0" "00006" "ANAPC1_000010" "g.112605316T>G" "" "{PMID:Hamdan 2017:29100083}" "" "NM_022662:c.A1777C (N593H)" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000947332" "0" "10" "2" "112588975" "112588975" "subst" "0.00860991" "01804" "ANAPC1_000011" "g.112588975G>A" "" "" "" "ANAPC1(NM_022662.3):c.2513C>T (p.(Thr838Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000947333" "0" "30" "2" "112608350" "112608350" "subst" "2.04312E-5" "01804" "ANAPC1_000012" "g.112608350T>C" "" "" "" "ANAPC1(NM_022662.3):c.1650+3A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974236" "0" "50" "2" "112550054" "112550054" "subst" "0.000170866" "01804" "ANAPC1_000013" "g.112550054G>C" "" "" "" "ANAPC1(NM_022662.4):c.4597C>G (p.(Leu1533Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974237" "0" "50" "2" "112614429" "112614429" "subst" "0" "01804" "ANAPC1_000014" "g.112614429G>A" "" "" "" "ANAPC1(NM_022662.4):c.1393C>T (p.(Gln465Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974238" "0" "50" "2" "112614477" "112614481" "del" "0" "01804" "ANAPC1_000015" "g.112614477_112614481del" "" "" "" "ANAPC1(NM_022662.4):c.1359-11_1359-7del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991557" "0" "30" "2" "112608433" "112608433" "subst" "0.000726501" "01804" "ANAPC1_000016" "g.112608433T>C" "" "" "" "ANAPC1(NM_022662.3):c.1570A>G (p.(Thr524Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032309" "0" "30" "2" "112534432" "112534432" "subst" "0.000158535" "01804" "ANAPC1_000017" "g.112534432T>C" "" "" "" "ANAPC1(NM_022662.4):c.5584+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032310" "0" "50" "2" "112540065" "112540065" "subst" "0.000146677" "01804" "ANAPC1_000018" "g.112540065C>G" "" "" "" "ANAPC1(NM_022662.4):c.5083G>C (p.(Gly1695Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032311" "0" "30" "2" "112545907" "112545907" "subst" "8.13273E-6" "01804" "ANAPC1_000019" "g.112545907A>T" "" "" "" "ANAPC1(NM_022662.4):c.4713-10T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032312" "0" "30" "2" "112604731" "112604731" "subst" "6.92956E-5" "01804" "ANAPC1_000020" "g.112604731A>T" "" "" "" "ANAPC1(NM_022662.4):c.1836T>A (p.(Ile612=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032313" "0" "50" "2" "112625625" "112625625" "subst" "1.70657E-5" "01804" "ANAPC1_000021" "g.112625625T>C" "" "" "" "ANAPC1(NM_022662.4):c.660A>G (p.(Ile220Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032314" "0" "50" "2" "112638330" "112638330" "subst" "3.65946E-5" "01804" "ANAPC1_000022" "g.112638330G>C" "" "" "" "ANAPC1(NM_022662.4):c.73C>G (p.(Arg25Gly))" "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 ANAPC1 ## Count = 31 "{{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}}" "0000508954" "00002456" "30" "5386" "-11" "5386" "-5" "c.5386-11_5386-5del" "r.spl?" "p.?" "" "0000508958" "00002456" "50" "545" "0" "545" "0" "c.545C>T" "r.(?)" "p.(Pro182Leu)" "" "0000592569" "00002456" "90" "2705" "-198" "2705" "-198" "c.2705-198C>T" "r.2704_2705ins2705-298_2705-194" "p.Pro903Lysfs*4" "" "0000592570" "00002456" "90" "2705" "-198" "2705" "-198" "c.2705-198C>T" "r.2704_2705ins2705-298_2705-195" "p.Pro903Lysfs*4" "" "0000592571" "00002456" "90" "2705" "-198" "2705" "-198" "c.2705-198C>T" "r.2704_2705ins2705-298_2705-196" "p.Pro903Lysfs*4" "" "0000592572" "00002456" "90" "2705" "-198" "2705" "-198" "c.2705-198C>T" "r.2704_2705ins2705-298_2705-197" "p.Pro903Lysfs*4" "" "0000592573" "00002456" "90" "2705" "-198" "2705" "-198" "c.2705-198C>T" "r.2704_2705ins2705-298_2705-198" "p.Pro903Lysfs*4" "" "0000592574" "00002456" "90" "2705" "-198" "2705" "-198" "c.2705-198C>T" "r.2704_2705ins2705-298_2705-199" "p.Pro903Lysfs*4" "" "0000592575" "00002456" "90" "2705" "-198" "2705" "-198" "c.2705-198C>T" "r.2704_2705ins2705-298_2705-200" "p.Pro903Lysfs*4" "" "0000592576" "00002456" "90" "2705" "-198" "2705" "-198" "c.2705-198C>T" "r.2704_2705ins2705-298_2705-201" "p.Pro903Lysfs*4" "" "0000592577" "00002456" "90" "2705" "-198" "2705" "-198" "c.2705-198C>T" "r.2704_2705ins2705-298_2705-202" "p.Pro903Lysfs*4" "" "0000592578" "00002456" "90" "2705" "-198" "2705" "-198" "c.2705-198C>T" "r.2704_2705ins2705-298_2705-203" "p.Pro903Lysfs*4" "" "0000592579" "00002456" "90" "4882" "0" "4883" "0" "c.4882_4883del" "r.(?)" "p.(Thr1628Alafs*17)" "" "0000592580" "00002456" "90" "1778" "0" "1778" "0" "c.1778dup" "r.(?)" "p.(Asn593Lysfs*9)" "" "0000592581" "00002456" "90" "1778" "0" "1778" "0" "c.1778dup" "r.(?)" "p.(Asn593Lysfs*9)" "" "0000592582" "00002456" "70" "4373" "1" "4373" "1" "c.4373+1G>A" "r.spl" "p.?" "" "0000592583" "00002456" "70" "4373" "1" "4373" "1" "c.4373+1G>A" "r.spl?" "p.?" "" "0000815498" "00002456" "90" "-490901" "0" "1161002" "0" "c.-490901_*1155167del" "r.0?" "p.0?" "" "0000936317" "00002456" "50" "1777" "0" "1777" "0" "c.1777A>C" "r.(?)" "p.(Asn593His)" "" "0000947332" "00002456" "10" "2513" "0" "2513" "0" "c.2513C>T" "r.(?)" "p.(Thr838Met)" "" "0000947333" "00002456" "30" "1650" "3" "1650" "3" "c.1650+3A>G" "r.spl?" "p.?" "" "0000974236" "00002456" "50" "4597" "0" "4597" "0" "c.4597C>G" "r.(?)" "p.(Leu1533Val)" "" "0000974237" "00002456" "50" "1393" "0" "1393" "0" "c.1393C>T" "r.(?)" "p.(Gln465*)" "" "0000974238" "00002456" "50" "1359" "-11" "1359" "-7" "c.1359-11_1359-7del" "r.(=)" "p.(=)" "" "0000991557" "00002456" "30" "1570" "0" "1570" "0" "c.1570A>G" "r.(?)" "p.(Thr524Ala)" "" "0001032309" "00002456" "30" "5584" "4" "5584" "4" "c.5584+4A>G" "r.spl?" "p.?" "" "0001032310" "00002456" "50" "5083" "0" "5083" "0" "c.5083G>C" "r.(?)" "p.(Gly1695Arg)" "" "0001032311" "00002456" "30" "4713" "-10" "4713" "-10" "c.4713-10T>A" "r.(=)" "p.(=)" "" "0001032312" "00002456" "30" "1836" "0" "1836" "0" "c.1836T>A" "r.(?)" "p.(=)" "" "0001032313" "00002456" "50" "660" "0" "660" "0" "c.660A>G" "r.(?)" "p.(Ile220Met)" "" "0001032314" "00002456" "50" "73" "0" "73" "0" "c.73C>G" "r.(?)" "p.(Arg25Gly)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{variantid}}" "0000262285" "0000592569" "0000262286" "0000592570" "0000262287" "0000592571" "0000262288" "0000592572" "0000262289" "0000592573" "0000262290" "0000592574" "0000262290" "0000592579" "0000262291" "0000592575" "0000262291" "0000592580" "0000262292" "0000592576" "0000262292" "0000592581" "0000262293" "0000592577" "0000262293" "0000592582" "0000262294" "0000592578" "0000262294" "0000592583" "0000387462" "0000815498" "0000440159" "0000936317"