### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = APC2) # 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}}" "APC2" "adenomatosis polyposis coli 2" "19" "p13.3" "unknown" "NG_055243.1" "UD_132438169480" "" "https://www.LOVD.nl/APC2" "" "1" "24036" "10297" "612034" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/APC2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-11-29 11:52:38" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00002661" "APC2" "adenomatosis polyposis coli 2" "001" "NM_005883.2" "" "NP_005874.1" "" "" "" "-208" "9943" "6912" "1450148" "1473243" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05244" "SOTOS3" "Sotos syndrome, type 3 (SOTOS-3)" "AR" "617169" "" "" "" "00006" "2017-03-21 17:12:43" "00006" "2021-12-10 21:51:32" "05245" "SOTOS" "Sotos syndrome (SOTOS)" "" "" "" "neurological disorder characterized by overgrowth (prenatal stage through childhood), advanced bone age, unusual face with large skull, acromegalic features and pointed chin, occasional brain anomalies, seizures, mental retardation" "" "00006" "2017-03-24 10:45:23" "00006" "2017-03-24 12:27:24" "06446" "CDCBM10" "Cortical dysplasia, complex, with other brain malformations 10" "AR" "618677" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "APC2" "05244" "APC2" "05245" "APC2" "06446" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00266208" "" "" "" "2" "" "00006" "{PMID:Lee 2019:31585108}" "3-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "yes" "Egypt" "" "0" "" "" "" "Fam1PatIII1/2" "00266209" "" "" "" "1" "" "00006" "{PMID:Lee 2019:31585108}" "3-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Egypt" "" "0" "" "" "" "Fam2PatIII1" "00266210" "" "" "" "2" "" "00006" "{PMID:Lee 2019:31585108}" "3-generation family, affected brother/sister, unaffected heterozygous carrier parents" "F;M" "yes" "Egypt" "" "0" "" "" "" "Fam3PatIII1/3" "00266211" "" "" "" "1" "" "00006" "{PMID:Lee 2019:31585108}" "3-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Iran" "" "0" "" "" "" "Fam4PatIII1" "00266212" "" "" "" "1" "" "00006" "{PMID:Lee 2019:31585108}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "United States" "" "0" "" "" "" "Fam5PatIII1" "00266213" "" "" "" "2" "" "00006" "{PMID:Lee 2019:31585108}" "3-generation family, affected brother/sister, unaffected heterozygous carrier parents" "F;M" "yes" "Turkey" "" "0" "" "" "" "Fam6PatIII1/2" "00266214" "" "" "" "2" "" "00006" "{PMID:Lee 2019:31585108}" "3-generation family, affected brother/sister, unaffected heterozygous carrier parents" "F;M" "yes" "Syria" "" "0" "" "" "" "Fam7PatIII3/4" "00266215" "" "" "" "1" "" "00006" "{PMID:Lee 2019:31585108}" "4-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Egypt" "" "0" "" "" "" "Fam8PatIV1" "00269478" "" "" "" "1" "" "03512" "{PMID:Minardi 2020:32725632}" "" "" "" "Italy" "" "0" "" "" "" "" "00296740" "" "" "" "3" "" "00006" "{PMID:Mejecase 2018:29120066}" "3-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives" "F" "yes" "France" "" "0" "" "" "North Africa" "CIC03778;FamPatII2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00266208" "00198" "00266209" "00198" "00266210" "00198" "00266211" "00198" "00266212" "00198" "00266213" "00198" "00266214" "00198" "00266215" "00198" "00269478" "00344" "00296740" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00344, 04214, 05244, 05245, 06446 ## Count = 10 "{{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}}" "0000203984" "00198" "00266208" "00006" "Familial, autosomal recessive" "" "see paper; …, lissencephaly, subcortical heterotopia, global developmental delay" "" "" "" "" "" "" "" "" "" "lissencephaly" "" "0000203985" "00198" "00266209" "00006" "Familial, autosomal recessive" "" "see paper; …, lissencephaly, subcortical heterotopia, global developmental delay" "" "" "" "" "" "" "" "" "" "lissencephaly" "" "0000203986" "00198" "00266210" "00006" "Familial, autosomal recessive" "" "see paper; …, lissencephaly, subcortical heterotopia, global developmental delay" "" "" "" "" "" "" "" "" "" "lissencephaly" "" "0000203987" "00198" "00266211" "00006" "Familial, autosomal recessive" "" "see paper; …, lissencephaly, subcortical heterotopia, global developmental delay" "" "" "" "" "" "" "" "" "" "lissencephaly" "" "0000203988" "00198" "00266212" "00006" "Familial, autosomal recessive" "" "see paper; …, lissencephaly, subcortical heterotopia, global developmental delay" "" "" "" "" "" "" "" "" "" "lissencephaly" "" "0000203989" "00198" "00266213" "00006" "Familial, autosomal recessive" "" "see paper; …, lissencephaly, subcortical heterotopia, global developmental delay" "" "" "" "" "" "" "" "" "" "lissencephaly" "" "0000203990" "00198" "00266214" "00006" "Familial, autosomal recessive" "" "see paper; …, lissencephaly, subcortical heterotopia, global developmental delay" "" "" "" "" "" "" "" "" "" "lissencephaly" "" "0000203991" "00198" "00266215" "00006" "Familial, autosomal recessive" "" "see paper; …, lissencephaly, subcortical heterotopia, global developmental delay" "" "" "" "" "" "" "" "" "" "lissencephaly" "" "0000207313" "00344" "00269478" "03512" "Di-genic" "" "Epileptic encephalopathy (HP:0200134)" "" "" "" "" "" "" "" "" "" "" "" "0000224141" "04214" "00296740" "00006" "Familial, autosomal recessive" "55y" "26y-night blindness; 30y-diagnosis rod-cone dystrophy, best corrected visual acuity 20/63 both eyes with optimized myopic optical correction (R −6 (−2)0, L −8(−2)0), ERG full field undetectable, severe generalized photoreceptor dysfunction; 40y-catarct surgery both eyes; 55y-BVCA R 20/500, L 20/320, severe dyschromatopsia, bilateral severe visual field constriction 15 degrees at the binocular III4e test, funds coarse pigment migrations, atrophic changes macula, widespread alterations posterior pole and peripheral retina, patchy loss autofluorescence macula, severe thinning outer nuclear layer both eyes, loss hyper reflective outer retinal bands, hyper reflective material present above retinal pigment epithelium/Bruch’s membrane complex" "26y" "30y" "night blindness" "" "" "" "" "" "RP77" "rod-cone dystrophy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000267329" "00266208" "1" "00006" "00006" "2019-10-16 15:12:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000267330" "00266209" "1" "00006" "00006" "2019-10-16 15:12:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000267331" "00266210" "1" "00006" "00006" "2019-10-16 15:12:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000267332" "00266211" "1" "00006" "00006" "2019-10-16 15:12:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000267333" "00266212" "1" "00006" "00006" "2019-10-16 15:12:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000267334" "00266213" "1" "00006" "00006" "2019-10-16 15:12:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000267335" "00266214" "1" "00006" "00006" "2019-10-16 15:12:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000267336" "00266215" "1" "00006" "00006" "2019-10-16 15:12:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000270632" "00269478" "1" "03512" "03512" "2019-11-28 17:28:21" "" "" "SEQ-NG-I" "DNA" "" "" "0000297850" "00296740" "1" "00006" "00006" "2020-04-12 10:15:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000267329" "APC2" "0000267330" "APC2" "0000267331" "APC2" "0000267332" "APC2" "0000267333" "APC2" "0000267334" "APC2" "0000267335" "APC2" "0000267336" "APC2" "0000297850" "REEP6" ## 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 = 135 "{{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}}" "0000261013" "0" "30" "19" "1468154" "1468154" "subst" "0" "02326" "APC2_000003" "g.1468154C>T" "" "" "" "APC2(NM_005883.2):c.4854C>T (p.S1618=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1468155C>T" "" "likely benign" "" "0000326042" "0" "50" "19" "1467445" "1467450" "del" "0" "01804" "APC2_000002" "g.1467445_1467450del" "" "" "" "APC2(NM_005883.3):c.4145_4150del (p.(Pro1382_Ala1383del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1467446_1467451del" "" "VUS" "" "0000326043" "0" "50" "19" "1482902" "1482902" "subst" "0.000424837" "01804" "PCSK4_000001" "g.1482902G>T" "" "" "" "PCSK4(NM_017573.3):c.1689C>A (p.(Phe563Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1482903G>T" "" "VUS" "" "0000326044" "0" "30" "19" "1483394" "1483394" "subst" "0.000234662" "01804" "PCSK4_000002" "g.1483394C>A" "" "" "" "PCSK4(NM_017573.3):c.1460G>T (p.(Arg487Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1483395C>A" "" "likely benign" "" "0000566327" "0" "30" "19" "1456368" "1456368" "subst" "0.00147722" "01804" "APC2_000004" "g.1456368C>G" "" "" "" "APC2(NM_005883.2):c.781C>G (p.(Pro261Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1456369C>G" "" "likely benign" "" "0000566328" "0" "30" "19" "1457006" "1457006" "subst" "0.00495418" "01943" "APC2_000005" "g.1457006C>T" "" "" "" "APC2(NM_005883.2):c.971C>T (p.T324I), APC2(NM_005883.3):c.971C>T (p.(Thr324Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1457007C>T" "" "likely benign" "" "0000566329" "0" "50" "19" "1457982" "1457982" "subst" "0.000266531" "01804" "APC2_000006" "g.1457982C>T" "" "" "" "APC2(NM_005883.3):c.1226C>T (p.(Pro409Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1457983C>T" "" "VUS" "" "0000566331" "0" "30" "19" "1465448" "1465448" "subst" "0.000775038" "01943" "APC2_000007" "g.1465448C>G" "" "" "" "APC2(NM_005883.2):c.2148C>G (p.P716=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1465449C>G" "" "likely benign" "" "0000566334" "0" "30" "19" "1467667" "1467667" "subst" "0.0122487" "01804" "APC2_000009" "g.1467667G>C" "" "" "" "APC2(NM_005883.2):c.4367G>C (p.(Arg1456Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1467668G>C" "" "likely benign" "" "0000566335" "0" "30" "19" "1468696" "1468696" "subst" "0.000988014" "01943" "APC2_000010" "g.1468696C>T" "" "" "" "APC2(NM_005883.2):c.5396C>T (p.P1799L, p.(Pro1799Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1468697C>T" "" "likely benign" "" "0000566336" "0" "30" "19" "1468696" "1468696" "subst" "0.000988014" "01804" "APC2_000010" "g.1468696C>T" "" "" "" "APC2(NM_005883.2):c.5396C>T (p.P1799L, p.(Pro1799Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1468697C>T" "" "likely benign" "" "0000566337" "0" "30" "19" "1469371" "1469371" "subst" "0.00339994" "01804" "APC2_000011" "g.1469371C>T" "" "" "" "APC2(NM_005883.2):c.6071C>T (p.(Ala2024Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1469372C>T" "" "likely benign" "" "0000566338" "0" "30" "19" "1469467" "1469467" "subst" "0.0172239" "01804" "APC2_000012" "g.1469467C>A" "" "" "" "APC2(NM_005883.2):c.6167C>A (p.(Pro2056Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1469468C>A" "" "likely benign" "" "0000566339" "0" "30" "19" "1469469" "1469469" "subst" "0" "01804" "APC2_000013" "g.1469469G>A" "" "" "" "APC2(NM_005883.2):c.6169G>A (p.(Ala2057Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1469470G>A" "" "likely benign" "" "0000566340" "0" "30" "19" "1469496" "1469496" "subst" "0" "01943" "APC2_000014" "g.1469496C>G" "" "" "" "APC2(NM_005883.2):c.6196C>G (p.P2066A, p.(Pro2066Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1469497C>G" "" "likely benign" "" "0000566342" "0" "30" "19" "1470021" "1470021" "subst" "0.00582869" "01804" "APC2_000016" "g.1470021T>G" "" "" "" "APC2(NM_005883.2):c.6721T>G (p.(Ser2241Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1470022T>G" "" "likely benign" "" "0000566343" "0" "30" "19" "1481916" "1481916" "subst" "0" "01804" "APC2_000017" "g.1481916G>A" "" "" "" "PCSK4(NM_017573.3):c.2110C>T (p.(Arg704Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1481917G>A" "" "likely benign" "" "0000566344" "0" "30" "19" "1484118" "1484118" "subst" "0" "01943" "APC2_000018" "g.1484118C>A" "" "" "" "PCSK4(NM_017573.4):c.1077G>T (p.T359=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1484119C>A" "" "likely benign" "" "0000566345" "0" "30" "19" "1484129" "1484129" "subst" "0" "01804" "APC2_000019" "g.1484129G>A" "" "" "" "PCSK4(NM_017573.3):c.1069-3C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1484130G>A" "" "likely benign" "" "0000598388" "3" "90" "19" "1457116" "1457116" "subst" "0" "00006" "APC2_000021" "g.1457116C>T" "" "{PMID:Lee 2019:31585108}" "" "" "" "Germline" "" "" "0" "" "" "g.1457117C>T" "" "pathogenic (recessive)" "" "0000598389" "3" "90" "19" "1465182" "1465182" "subst" "0" "00006" "APC2_000025" "g.1465182C>T" "" "{PMID:Lee 2019:31585108}" "" "" "" "Germline" "" "" "0" "" "" "g.1465183C>T" "" "pathogenic (recessive)" "" "0000598390" "3" "90" "19" "1469945" "1469945" "del" "0" "00006" "APC2_000028" "g.1469945del" "" "{PMID:Lee 2019:31585108}" "" "6645delC" "" "Germline" "" "" "0" "" "" "g.1469946del" "" "pathogenic (recessive)" "" "0000598391" "3" "90" "19" "1462017" "1462018" "del" "0" "00006" "APC2_000023" "g.1462017_1462018del" "" "{PMID:Lee 2019:31585108}" "" "1694_1695delCA" "" "Germline" "" "" "0" "" "" "g.1462018_1462019del" "" "pathogenic (recessive)" "" "0000598392" "21" "90" "19" "1457210" "1457223" "del" "0" "00006" "APC2_000022" "g.1457210_1457223del" "" "{PMID:Lee 2019:31585108}" "" "1167_1180del" "" "Germline" "" "" "0" "" "" "g.1457211_1457224del" "" "pathogenic (recessive)" "" "0000598393" "3" "90" "19" "1456324" "1456324" "subst" "0" "00006" "APC2_000020" "g.1456324C>A" "" "{PMID:Lee 2019:31585108}" "" "" "" "Germline" "" "" "0" "" "" "g.1456325C>A" "" "pathogenic (recessive)" "" "0000598394" "3" "90" "19" "1466140" "1466146" "del" "0" "00006" "APC2_000026" "g.1466140_1466146del" "" "{PMID:Lee 2019:31585108}" "" "" "" "Germline" "" "" "0" "" "" "g.1466141_1466147del" "" "pathogenic (recessive)" "" "0000598395" "3" "90" "19" "1465164" "1465164" "subst" "0" "00006" "APC2_000024" "g.1465164G>C" "" "{PMID:Lee 2019:31585108}" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.1465165G>C" "" "pathogenic (recessive)" "" "0000598396" "11" "90" "19" "1467556" "1467568" "del" "0" "00006" "APC2_000027" "g.1467556_1467568del" "" "{PMID:Lee 2019:31585108}" "" "4247_4259del" "" "Germline" "" "" "0" "" "" "g.1467557_1467569del" "" "pathogenic (recessive)" "" "0000604414" "21" "70" "19" "1457098" "1457098" "subst" "5.45983E-5" "03512" "APC2_000030" "g.1457098G>A" "" "{PMID:Minardi 2020:32725632}" "" "" "" "Germline" "" "" "0" "" "" "g.1457099G>A" "" "likely pathogenic (recessive)" "" "0000604415" "11" "70" "19" "1469920" "1469920" "subst" "0" "03512" "APC2_000029" "g.1469920C>T" "" "{PMID:Minardi 2020:32725632}" "" "" "" "Germline" "" "" "0" "" "" "g.1469921C>T" "" "likely pathogenic (recessive)" "" "0000617392" "0" "50" "19" "1456384" "1456384" "dup" "0" "01804" "APC2_000031" "g.1456384dup" "" "" "" "APC2(NM_005883.2):c.797dup (p.(Gln267SerfsTer158))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1456385dup" "" "VUS" "" "0000617393" "0" "50" "19" "1461055" "1461055" "subst" "1.21952E-5" "01804" "APC2_000032" "g.1461055G>A" "" "" "" "APC2(NM_005883.2):c.1541G>A (p.(Arg514Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1461056G>A" "" "VUS" "" "0000617394" "0" "30" "19" "1461169" "1461169" "subst" "0.00038234" "02326" "APC2_000033" "g.1461169C>T" "" "" "" "APC2(NM_005883.2):c.1638+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1461170C>T" "" "likely benign" "" "0000617396" "0" "30" "19" "1465259" "1465259" "subst" "0" "01943" "APC2_000034" "g.1465259G>A" "" "" "" "APC2(NM_005883.2):c.1959G>A (p.S653=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1465260G>A" "" "likely benign" "" "0000617397" "0" "30" "19" "1467857" "1467857" "subst" "0.000606439" "02326" "APC2_000036" "g.1467857G>A" "" "" "" "APC2(NM_005883.2):c.4557G>A (p.P1519=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1467858G>A" "" "likely benign" "" "0000617398" "0" "30" "19" "1468039" "1468039" "subst" "6.69427E-5" "01804" "APC2_000038" "g.1468039G>A" "" "" "" "APC2(NM_005883.2):c.4739G>A (p.(Ser1580Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1468040G>A" "" "likely benign" "" "0000617399" "0" "50" "19" "1468380" "1468380" "subst" "0" "01804" "APC2_000039" "g.1468380A>T" "" "" "" "APC2(NM_005883.2):c.5080A>T (p.(Asn1694Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1468381A>T" "" "VUS" "" "0000617400" "0" "30" "19" "1468804" "1468804" "subst" "0" "01943" "APC2_000040" "g.1468804C>T" "" "" "" "APC2(NM_005883.2):c.5504C>T (p.P1835L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1468805C>T" "" "likely benign" "" "0000617401" "0" "30" "19" "1468974" "1468974" "subst" "0" "01943" "APC2_000041" "g.1468974C>T" "" "" "" "APC2(NM_005883.2):c.5674C>T (p.P1892S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1468975C>T" "" "likely benign" "" "0000617402" "0" "30" "19" "1469008" "1469008" "subst" "4.17699E-5" "01943" "APC2_000042" "g.1469008C>T" "" "" "" "APC2(NM_005883.2):c.5708C>T (p.P1903L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1469009C>T" "" "likely benign" "" "0000617403" "0" "50" "19" "1469851" "1469851" "subst" "0.000981229" "01804" "APC2_000043" "g.1469851G>C" "" "" "" "APC2(NM_005883.2):c.6551G>C (p.(Arg2184Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1469852G>C" "" "VUS" "" "0000623945" "0" "30" "19" "1467446" "1467446" "subst" "0.000192012" "01943" "APC2_000035" "g.1467446G>A" "" "" "" "APC2(NM_005883.2):c.4146G>A (p.P1382=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1467447G>A" "" "likely benign" "" "0000623946" "0" "30" "19" "1467873" "1467873" "subst" "0" "01943" "APC2_000037" "g.1467873C>A" "" "" "" "APC2(NM_005883.2):c.4573C>A (p.P1525T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1467874C>A" "" "likely benign" "" "0000658509" "0" "50" "19" "1469888" "1469888" "subst" "0.000785484" "01943" "APC2_000044" "g.1469888C>A" "" "" "" "APC2(NM_005883.2):c.6588C>A (p.V2196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1469889C>A" "" "VUS" "" "0000660550" "3" "30" "19" "1469061" "1469061" "subst" "0" "00006" "APC2_000045" "g.1469061C>A" "" "{PMID:Mejecase 2018:29120066}" "" "" "" "Germline" "" "" "0" "" "" "g.1469062C>A" "" "VUS" "" "0000681309" "0" "50" "19" "1455217" "1455217" "subst" "0.000243293" "01943" "APC2_000046" "g.1455217C>T" "" "" "" "APC2(NM_005883.2):c.483C>T (p.G161=), APC2(NM_005883.3):c.483C>T (p.(Gly161=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681310" "0" "30" "19" "1465498" "1465498" "subst" "8.64962E-6" "01943" "APC2_000047" "g.1465498G>A" "" "" "" "APC2(NM_005883.2):c.2198G>A (p.R733Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681311" "0" "30" "19" "1467926" "1467926" "subst" "0.00112121" "01943" "APC2_000048" "g.1467926G>A" "" "" "" "APC2(NM_005883.2):c.4626G>A (p.P1542=), APC2(NM_005883.3):c.4626G>A (p.(Pro1542=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692707" "0" "50" "19" "1469821" "1469821" "subst" "1.78734E-5" "01804" "APC2_000049" "g.1469821C>A" "" "" "" "APC2(NM_005883.2):c.6521C>A (p.(Pro2174His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727168" "0" "30" "19" "1455424" "1455424" "subst" "0.000457206" "01943" "APC2_000050" "g.1455424G>A" "" "" "" "APC2(NM_005883.2):c.564G>A (p.E188=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727169" "0" "30" "19" "1456884" "1456884" "subst" "5.36261E-5" "01943" "APC2_000051" "g.1456884G>A" "" "" "" "APC2(NM_005883.2):c.849G>A (p.L283=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727170" "0" "30" "19" "1466344" "1466344" "subst" "0.00481915" "01804" "APC2_000052" "g.1466344C>T" "" "" "" "APC2(NM_005883.2):c.3044C>T (p.(Pro1015Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727171" "0" "30" "19" "1469588" "1469588" "subst" "5.2639E-5" "01943" "APC2_000053" "g.1469588C>T" "" "" "" "APC2(NM_005883.2):c.6288C>T (p.V2096=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808717" "0" "30" "19" "1460814" "1460814" "subst" "6.95587E-5" "01943" "APC2_000054" "g.1460814C>T" "" "" "" "APC2(NM_005883.2):c.1479C>T (p.A493=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808718" "0" "30" "19" "1466136" "1466136" "subst" "0" "01804" "APC2_000055" "g.1466136C>A" "" "" "" "APC2(NM_005883.2):c.2836C>A (p.(Pro946Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808719" "0" "30" "19" "1466137" "1466137" "subst" "0" "01804" "APC2_000056" "g.1466137C>A" "" "" "" "APC2(NM_005883.2):c.2837C>A (p.(Pro946Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808720" "0" "50" "19" "1467227" "1467235" "del" "0" "02325" "APC2_000057" "g.1467227_1467235del" "" "" "" "APC2(NM_005883.3):c.3927_3935del (p.(Gly1310_Gly1312del)), APC2(NM_005883.3):c.3927_3935delGGGCGCCGG (p.G1310_G1312del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808722" "0" "30" "19" "1467510" "1467510" "subst" "0" "01943" "APC2_000058" "g.1467510G>A" "" "" "" "APC2(NM_005883.2):c.4210G>A (p.A1404T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808723" "0" "30" "19" "1467515" "1467515" "subst" "0" "01943" "APC2_000059" "g.1467515G>A" "" "" "" "APC2(NM_005883.2):c.4215G>A (p.S1405=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808724" "0" "30" "19" "1467984" "1467984" "subst" "1.5192E-5" "01943" "APC2_000060" "g.1467984G>A" "" "" "" "APC2(NM_005883.2):c.4684G>A (p.A1562T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808725" "0" "30" "19" "1469993" "1469993" "subst" "2.39025E-5" "01943" "APC2_000061" "g.1469993C>G" "" "" "" "APC2(NM_005883.2):c.6693C>G (p.D2231E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808726" "0" "30" "19" "1470023" "1470023" "subst" "0" "01943" "APC2_000062" "g.1470023C>T" "" "" "" "APC2(NM_005883.2):c.6723C>T (p.S2241=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808727" "0" "30" "19" "1470158" "1470158" "subst" "0.000228782" "01943" "APC2_000063" "g.1470158C>A" "" "" "" "APC2(NM_005883.2):c.6858C>A (p.T2286=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808728" "0" "30" "19" "1483709" "1483709" "subst" "0.000176006" "01943" "APC2_000064" "g.1483709C>T" "" "" "" "PCSK4(NM_017573.4):c.1331G>A (p.R444H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855464" "0" "30" "19" "1467857" "1467857" "subst" "0.000606439" "01943" "APC2_000036" "g.1467857G>A" "" "" "" "APC2(NM_005883.2):c.4557G>A (p.P1519=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865906" "0" "50" "19" "1453531" "1453531" "subst" "0.000517313" "01804" "APC2_000065" "g.1453531G>A" "" "" "" "APC2(NM_005883.2):c.334G>A (p.(Gly112Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865907" "0" "30" "19" "1457002" "1457002" "subst" "0.0133293" "01804" "APC2_000066" "g.1457002G>C" "" "" "" "APC2(NM_005883.2):c.967G>C (p.(Gly323Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865908" "0" "30" "19" "1457098" "1457098" "subst" "5.45983E-5" "01804" "APC2_000030" "g.1457098G>A" "" "" "" "APC2(NM_005883.2):c.1063G>A (p.(Val355Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865909" "0" "30" "19" "1466145" "1466145" "subst" "0.00764944" "01804" "APC2_000067" "g.1466145G>A" "" "" "" "APC2(NM_005883.2):c.2845G>A (p.(Ala949Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865910" "0" "30" "19" "1466954" "1466954" "subst" "0.000837213" "01804" "APC2_000068" "g.1466954C>T" "" "" "" "APC2(NM_005883.2):c.3654C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865911" "0" "30" "19" "1467773" "1467773" "subst" "0.00362147" "01804" "APC2_000069" "g.1467773G>A" "" "" "" "APC2(NM_005883.2):c.4473G>A (p.(Gly1491=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865912" "0" "30" "19" "1467803" "1467803" "subst" "0.0372518" "01804" "APC2_000070" "g.1467803C>T" "" "" "" "APC2(NM_005883.2):c.4503C>T (p.(Pro1501=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865913" "0" "30" "19" "1467977" "1467977" "subst" "0.000210695" "01804" "APC2_000071" "g.1467977G>A" "" "" "" "APC2(NM_005883.2):c.4677G>A (p.(Pro1559=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865914" "0" "30" "19" "1469819" "1469819" "subst" "0.000734681" "01804" "APC2_000072" "g.1469819G>C" "" "" "" "APC2(NM_005883.2):c.6519G>C (p.(Thr2173=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894819" "0" "90" "19" "1466862" "1466862" "subst" "0" "02329" "APC2_000073" "g.1466862C>T" "" "" "" "APC2(NM_005883.3):c.3562C>T (p.Q1188*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000915145" "0" "30" "19" "1461954" "1461954" "subst" "0" "02326" "APC2_000074" "g.1461954T>A" "" "" "" "APC2(NM_005883.2):c.1639-8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983248" "0" "50" "19" "1456942" "1456942" "subst" "0" "01804" "APC2_000075" "g.1456942G>A" "" "" "" "APC2(NM_005883.3):c.907G>A (p.(Glu303Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983249" "0" "30" "19" "1457006" "1457006" "subst" "0.00495418" "01804" "APC2_000005" "g.1457006C>T" "" "" "" "APC2(NM_005883.2):c.971C>T (p.T324I), APC2(NM_005883.3):c.971C>T (p.(Thr324Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983250" "0" "30" "19" "1460193" "1460193" "subst" "0.0241184" "01804" "APC2_000076" "g.1460193C>T" "" "" "" "APC2(NM_005883.3):c.1317C>T (p.(Ala439=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983251" "0" "50" "19" "1460245" "1460245" "subst" "8.53659E-5" "01804" "APC2_000077" "g.1460245C>A" "" "" "" "APC2(NM_005883.3):c.1369C>A (p.(Pro457Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983252" "0" "50" "19" "1462058" "1462058" "subst" "4.0712E-5" "01804" "APC2_000078" "g.1462058G>C" "" "" "" "APC2(NM_005883.3):c.1735G>C (p.(Gly579Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983253" "0" "50" "19" "1462119" "1462119" "subst" "0.000119049" "01804" "APC2_000079" "g.1462119G>A" "" "" "" "APC2(NM_005883.3):c.1796G>A (p.(Ser599Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983254" "0" "50" "19" "1462127" "1462127" "subst" "0" "01804" "APC2_000080" "g.1462127G>A" "" "" "" "APC2(NM_005883.3):c.1804G>A (p.(Gly602Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983255" "0" "50" "19" "1465833" "1465838" "dup" "0" "01804" "APC2_000081" "g.1465833_1465838dup" "" "" "" "APC2(NM_005883.3):c.2533_2538dup (p.(Ala845_Lys846dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983256" "0" "50" "19" "1467227" "1467235" "del" "0" "01804" "APC2_000057" "g.1467227_1467235del" "" "" "" "APC2(NM_005883.3):c.3927_3935del (p.(Gly1310_Gly1312del)), APC2(NM_005883.3):c.3927_3935delGGGCGCCGG (p.G1310_G1312del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983257" "0" "30" "19" "1467926" "1467926" "subst" "0.00112121" "01804" "APC2_000048" "g.1467926G>A" "" "" "" "APC2(NM_005883.2):c.4626G>A (p.P1542=), APC2(NM_005883.3):c.4626G>A (p.(Pro1542=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983258" "0" "50" "19" "1468338" "1468338" "subst" "0" "01804" "APC2_000082" "g.1468338G>A" "" "" "" "APC2(NM_005883.3):c.5038G>A (p.(Asp1680Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983259" "0" "50" "19" "1468408" "1468408" "subst" "0.000485331" "01804" "APC2_000083" "g.1468408C>A" "" "" "" "APC2(NM_005883.2):c.5108C>A (p.(Ala1703Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983260" "0" "50" "19" "1468506" "1468506" "subst" "0" "01804" "APC2_000084" "g.1468506A>G" "" "" "" "APC2(NM_005883.3):c.5206A>G (p.(Arg1736Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983261" "0" "50" "19" "1469824" "1469824" "subst" "0.000108409" "01804" "APC2_000085" "g.1469824A>G" "" "" "" "APC2(NM_005883.3):c.6524A>G (p.(Glu2175Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983262" "0" "30" "19" "1469841" "1469841" "subst" "0.000674961" "01804" "APC2_000086" "g.1469841C>T" "" "" "" "APC2(NM_005883.3):c.6541C>T (p.(Pro2181Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004422" "0" "30" "19" "1453438" "1453438" "subst" "3.3401E-5" "01804" "APC2_000087" "g.1453438A>G" "" "" "" "APC2(NM_005883.2):c.241A>G (p.(Met81Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004423" "0" "30" "19" "1455153" "1455153" "subst" "0.00153861" "01804" "APC2_000088" "g.1455153T>C" "" "" "" "APC2(NM_005883.2):c.419T>C (p.(Phe140Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004431" "0" "30" "19" "1460240" "1460240" "subst" "2.84574E-5" "01804" "APC2_000089" "g.1460240G>A" "" "" "" "APC2(NM_005883.2):c.1364G>A (p.(Arg455Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004432" "0" "50" "19" "1462121" "1462121" "subst" "2.46473E-5" "01804" "APC2_000090" "g.1462121G>A" "" "" "" "APC2(NM_005883.2):c.1798G>A (p.(Gly600Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004433" "0" "30" "19" "1462157" "1462157" "subst" "0" "01804" "APC2_000091" "g.1462157G>A" "" "" "" "APC2(NM_005883.2):c.1834G>A (p.(Ala612Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004434" "0" "30" "19" "1466229" "1466229" "subst" "0" "01804" "APC2_000092" "g.1466229G>A" "" "" "" "APC2(NM_005883.2):c.2929G>A (p.(Glu977Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004435" "0" "50" "19" "1466236" "1466236" "subst" "0" "01804" "APC2_000093" "g.1466236C>T" "" "" "" "APC2(NM_005883.2):c.2936C>T (p.(Pro979Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004436" "0" "30" "19" "1467862" "1467862" "subst" "9.26687E-5" "01804" "APC2_000094" "g.1467862C>A" "" "" "" "APC2(NM_005883.2):c.4562C>A (p.(Ala1521Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004437" "0" "50" "19" "1467866" "1467867" "del" "0" "01804" "APC2_000095" "g.1467866_1467867del" "" "" "" "APC2(NM_005883.2):c.4566_4567delGC (p.(Pro1523fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004438" "0" "30" "19" "1468666" "1468666" "subst" "0" "01804" "APC2_000096" "g.1468666G>A" "" "" "" "APC2(NM_005883.2):c.5366G>A (p.(Arg1789Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004439" "0" "30" "19" "1469496" "1469496" "subst" "0" "01804" "APC2_000014" "g.1469496C>G" "" "" "" "APC2(NM_005883.2):c.6196C>G (p.P2066A, p.(Pro2066Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004440" "0" "30" "19" "1469695" "1469695" "subst" "0" "01804" "APC2_000097" "g.1469695A>G" "" "" "" "APC2(NM_005883.2):c.6395A>G (p.(Glu2132Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004441" "0" "30" "19" "1469713" "1469713" "subst" "0" "01804" "APC2_000098" "g.1469713G>T" "" "" "" "APC2(NM_005883.2):c.6413G>T (p.(Arg2138Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004442" "0" "30" "19" "1469832" "1469832" "subst" "7.21722E-5" "01804" "APC2_000099" "g.1469832C>T" "" "" "" "APC2(NM_005883.2):c.6532C>T (p.(Pro2178Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042681" "0" "50" "19" "1453519" "1453519" "subst" "0.000382955" "01804" "APC2_000100" "g.1453519A>C" "" "" "" "APC2(NM_005883.3):c.322A>C (p.(Ser108Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042682" "0" "50" "19" "1453520" "1453520" "subst" "0.000382765" "01804" "APC2_000101" "g.1453520G>T" "" "" "" "APC2(NM_005883.3):c.323G>T (p.(Ser108Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042683" "0" "50" "19" "1455474" "1455474" "subst" "0" "01804" "APC2_000102" "g.1455474C>A" "" "" "" "APC2(NM_005883.3):c.614C>A (p.(Ser205*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042684" "0" "30" "19" "1456114" "1456114" "subst" "0.0039925" "01804" "APC2_000103" "g.1456114C>T" "" "" "" "APC2(NM_005883.3):c.679C>T (p.(Leu227=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042685" "0" "50" "19" "1456845" "1456850" "dup" "0" "01804" "APC2_000104" "g.1456845_1456850dup" "" "" "" "APC2(NM_005883.3):c.817-7_817-2dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042686" "0" "50" "19" "1457002" "1457002" "subst" "0.000168087" "01804" "APC2_000105" "g.1457002G>A" "" "" "" "APC2(NM_005883.3):c.967G>A (p.(Gly323Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042687" "0" "50" "19" "1460795" "1460795" "subst" "0.000418064" "01804" "APC2_000106" "g.1460795G>A" "" "" "" "APC2(NM_005883.3):c.1460G>A (p.(Arg487His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042688" "0" "30" "19" "1461125" "1461125" "subst" "0.00341773" "01804" "APC2_000107" "g.1461125G>A" "" "" "" "APC2(NM_005883.3):c.1611G>A (p.(Leu537=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042689" "0" "30" "19" "1462180" "1462180" "subst" "4.2684E-5" "01804" "APC2_000108" "g.1462180G>A" "" "" "" "APC2(NM_005883.3):c.1853+4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042690" "0" "50" "19" "1465603" "1465603" "subst" "0" "01804" "APC2_000109" "g.1465603C>T" "" "" "" "APC2(NM_005883.3):c.2303C>T (p.(Ala768Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042691" "0" "50" "19" "1465890" "1465890" "subst" "4.97221E-6" "01804" "APC2_000110" "g.1465890C>G" "" "" "" "APC2(NM_005883.3):c.2590C>G (p.(Leu864Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042692" "0" "50" "19" "1467367" "1467367" "subst" "3.57961E-5" "01804" "APC2_000111" "g.1467367G>T" "" "" "" "APC2(NM_005883.3):c.4067G>T (p.(Arg1356Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042694" "0" "50" "19" "1469159" "1469188" "del" "0" "01804" "APC2_000112" "g.1469159_1469188del" "" "" "" "APC2(NM_005883.3):c.5859_5888del (p.(Arg1954_Pro1963del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056400" "0" "50" "19" "1453079" "1453079" "subst" "0" "01804" "APC2_000113" "g.1453079C>G" "" "" "" "APC2(NM_005883.3):c.79C>G (p.(Gln27Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056401" "0" "30" "19" "1453453" "1453453" "subst" "0.00239063" "01804" "APC2_000114" "g.1453453C>T" "" "" "" "APC2(NM_005883.3):c.256C>T (p.(Leu86=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056402" "0" "30" "19" "1455217" "1455217" "subst" "0.000243293" "01804" "APC2_000046" "g.1455217C>T" "" "" "" "APC2(NM_005883.2):c.483C>T (p.G161=), APC2(NM_005883.3):c.483C>T (p.(Gly161=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056403" "0" "30" "19" "1456068" "1456068" "subst" "0" "01804" "APC2_000115" "g.1456068T>C" "" "" "" "APC2(NM_005883.3):c.640-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056404" "0" "10" "19" "1456122" "1456122" "subst" "0.00994739" "01804" "APC2_000116" "g.1456122G>A" "" "" "" "APC2(NM_005883.3):c.687G>A (p.(Ala229=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001056405" "0" "50" "19" "1460192" "1460192" "subst" "0" "01804" "APC2_000117" "g.1460192C>A" "" "" "" "APC2(NM_005883.3):c.1316C>A (p.(Ala439Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056406" "0" "50" "19" "1460860" "1460860" "subst" "9.40272E-5" "01804" "APC2_000118" "g.1460860C>A" "" "" "" "APC2(NM_005883.3):c.1521+4C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056407" "0" "30" "19" "1460865" "1460865" "subst" "8.18049E-6" "01804" "APC2_000119" "g.1460865C>T" "" "" "" "APC2(NM_005883.3):c.1521+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056408" "0" "50" "19" "1465567" "1465567" "subst" "0" "01804" "APC2_000120" "g.1465567A>G" "" "" "" "APC2(NM_005883.3):c.2267A>G (p.(Lys756Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056409" "0" "30" "19" "1466099" "1466099" "subst" "0.000564107" "01804" "APC2_000121" "g.1466099C>T" "" "" "" "APC2(NM_005883.3):c.2799C>T (p.(Ser933=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056410" "0" "50" "19" "1466203" "1466203" "subst" "0" "01804" "APC2_000122" "g.1466203A>G" "" "" "" "APC2(NM_005883.3):c.2903A>G (p.(Asp968Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056411" "0" "50" "19" "1466506" "1466506" "subst" "4.14823E-5" "01804" "APC2_000123" "g.1466506G>A" "" "" "" "APC2(NM_005883.3):c.3206G>A (p.(Arg1069Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056412" "0" "50" "19" "1467037" "1467037" "subst" "8.56472E-6" "01804" "APC2_000124" "g.1467037G>A" "" "" "" "APC2(NM_005883.3):c.3737G>A (p.(Cys1246Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056413" "0" "30" "19" "1467770" "1467770" "subst" "0.0041797" "01804" "APC2_000125" "g.1467770C>T" "" "" "" "APC2(NM_005883.3):c.4470C>T (p.(Asp1490=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056414" "0" "30" "19" "1468328" "1468328" "subst" "0.00459472" "01804" "APC2_000126" "g.1468328C>T" "" "" "" "APC2(NM_005883.3):c.5028C>T (p.(Asp1676=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056415" "0" "50" "19" "1468896" "1468896" "subst" "0" "01804" "APC2_000127" "g.1468896G>A" "" "" "" "APC2(NM_005883.3):c.5596G>A (p.(Ala1866Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056416" "0" "50" "19" "1470207" "1470207" "subst" "0" "01804" "APC2_000128" "g.1470207G>A" "" "" "" "APC2(NM_005883.3):c.6907G>A (p.(Glu2303Lys))" "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 APC2 ## Count = 135 "{{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}}" "0000261013" "00002661" "30" "4854" "0" "4854" "0" "c.4854C>T" "r.(?)" "p.(Ser1618=)" "" "0000326042" "00002661" "50" "4145" "0" "4150" "0" "c.4145_4150del" "r.(?)" "p.(Pro1382_Ala1383del)" "" "0000326043" "00002661" "50" "19602" "0" "19602" "0" "c.*12690G>T" "r.(=)" "p.(=)" "" "0000326044" "00002661" "30" "20094" "0" "20094" "0" "c.*13182C>A" "r.(=)" "p.(=)" "" "0000566327" "00002661" "30" "781" "0" "781" "0" "c.781C>G" "r.(?)" "p.(Pro261Ala)" "" "0000566328" "00002661" "30" "971" "0" "971" "0" "c.971C>T" "r.(?)" "p.(Thr324Ile)" "" "0000566329" "00002661" "50" "1226" "0" "1226" "0" "c.1226C>T" "r.(?)" "p.(Pro409Leu)" "" "0000566331" "00002661" "30" "2148" "0" "2148" "0" "c.2148C>G" "r.(?)" "p.(Pro716=)" "" "0000566334" "00002661" "30" "4367" "0" "4367" "0" "c.4367G>C" "r.(?)" "p.(Arg1456Pro)" "" "0000566335" "00002661" "30" "5396" "0" "5396" "0" "c.5396C>T" "r.(?)" "p.(Pro1799Leu)" "" "0000566336" "00002661" "30" "5396" "0" "5396" "0" "c.5396C>T" "r.(?)" "p.(Pro1799Leu)" "" "0000566337" "00002661" "30" "6071" "0" "6071" "0" "c.6071C>T" "r.(?)" "p.(Ala2024Val)" "" "0000566338" "00002661" "30" "6167" "0" "6167" "0" "c.6167C>A" "r.(?)" "p.(Pro2056Gln)" "" "0000566339" "00002661" "30" "6169" "0" "6169" "0" "c.6169G>A" "r.(?)" "p.(Ala2057Thr)" "" "0000566340" "00002661" "30" "6196" "0" "6196" "0" "c.6196C>G" "r.(?)" "p.(Pro2066Ala)" "" "0000566342" "00002661" "30" "6721" "0" "6721" "0" "c.6721T>G" "r.(?)" "p.(Ser2241Ala)" "" "0000566343" "00002661" "30" "18616" "0" "18616" "0" "c.*11704G>A" "r.(=)" "p.(=)" "" "0000566344" "00002661" "30" "20818" "0" "20818" "0" "c.*13906C>A" "r.(=)" "p.(=)" "" "0000566345" "00002661" "30" "20829" "0" "20829" "0" "c.*13917G>A" "r.(=)" "p.(=)" "" "0000598388" "00002661" "90" "1081" "0" "1081" "0" "c.1081C>T" "r.(?)" "p.(Gln361*)" "" "0000598389" "00002661" "90" "1882" "0" "1882" "0" "c.1882C>T" "r.(?)" "p.(Gln628*)" "" "0000598390" "00002661" "90" "6645" "0" "6645" "0" "c.6645del" "r.(?)" "p.(Ala2217Profs*118)" "" "0000598391" "00002661" "90" "1694" "0" "1695" "0" "c.1694_1695del" "r.(?)" "p.(Thr565Argfs*50)" "" "0000598392" "00002661" "90" "1175" "0" "1188" "0" "c.1175_1188del" "r.(?)" "p.(Asp392Glyfs*28)" "" "0000598393" "00002661" "90" "737" "0" "737" "0" "c.737C>A" "r.(?)" "p.(Ser246*)" "" "0000598394" "00002661" "90" "2840" "0" "2846" "0" "c.2840_2846del" "r.(?)" "p.(Leu947Hisfs*88)" "" "0000598395" "00002661" "90" "1863" "1" "1863" "1" "c.1863+1G>C" "r.spl" "p.?" "" "0000598396" "00002661" "90" "4256" "0" "4268" "0" "c.4256_4268del" "r.(?)" "p.(Pro1419Argfs*157)" "" "0000604414" "00002661" "70" "1063" "0" "1063" "0" "c.1063G>A" "r.(?)" "p.(Val355Ile)" "" "0000604415" "00002661" "70" "6620" "0" "6620" "0" "c.6620C>T" "r.(?)" "p.(Pro2207Leu)" "" "0000617392" "00002661" "50" "797" "0" "797" "0" "c.797dup" "r.(?)" "p.(Gln267SerfsTer158)" "" "0000617393" "00002661" "50" "1541" "0" "1541" "0" "c.1541G>A" "r.(?)" "p.(Arg514Gln)" "" "0000617394" "00002661" "30" "1638" "17" "1638" "17" "c.1638+17C>T" "r.(=)" "p.(=)" "" "0000617396" "00002661" "30" "1959" "0" "1959" "0" "c.1959G>A" "r.(?)" "p.(Ser653=)" "" "0000617397" "00002661" "30" "4557" "0" "4557" "0" "c.4557G>A" "r.(?)" "p.(Pro1519=)" "" "0000617398" "00002661" "30" "4739" "0" "4739" "0" "c.4739G>A" "r.(?)" "p.(Ser1580Asn)" "" "0000617399" "00002661" "50" "5080" "0" "5080" "0" "c.5080A>T" "r.(?)" "p.(Asn1694Tyr)" "" "0000617400" "00002661" "30" "5504" "0" "5504" "0" "c.5504C>T" "r.(?)" "p.(Pro1835Leu)" "" "0000617401" "00002661" "30" "5674" "0" "5674" "0" "c.5674C>T" "r.(?)" "p.(Pro1892Ser)" "" "0000617402" "00002661" "30" "5708" "0" "5708" "0" "c.5708C>T" "r.(?)" "p.(Pro1903Leu)" "" "0000617403" "00002661" "50" "6551" "0" "6551" "0" "c.6551G>C" "r.(?)" "p.(Arg2184Pro)" "" "0000623945" "00002661" "30" "4146" "0" "4146" "0" "c.4146G>A" "r.(?)" "p.(Pro1382=)" "" "0000623946" "00002661" "30" "4573" "0" "4573" "0" "c.4573C>A" "r.(?)" "p.(Pro1525Thr)" "" "0000658509" "00002661" "50" "6588" "0" "6588" "0" "c.6588C>A" "r.(?)" "p.(Val2196=)" "" "0000660550" "00002661" "30" "5761" "0" "5761" "0" "c.5761C>A" "r.(?)" "p.(His1921Asn)" "" "0000681309" "00002661" "50" "483" "0" "483" "0" "c.483C>T" "r.(?)" "p.(Gly161=)" "" "0000681310" "00002661" "30" "2198" "0" "2198" "0" "c.2198G>A" "r.(?)" "p.(Arg733Gln)" "" "0000681311" "00002661" "30" "4626" "0" "4626" "0" "c.4626G>A" "r.(?)" "p.(Pro1542=)" "" "0000692707" "00002661" "50" "6521" "0" "6521" "0" "c.6521C>A" "r.(?)" "p.(Pro2174His)" "" "0000727168" "00002661" "30" "564" "0" "564" "0" "c.564G>A" "r.(?)" "p.(Glu188=)" "" "0000727169" "00002661" "30" "849" "0" "849" "0" "c.849G>A" "r.(?)" "p.(Leu283=)" "" "0000727170" "00002661" "30" "3044" "0" "3044" "0" "c.3044C>T" "r.(?)" "p.(Pro1015Leu)" "" "0000727171" "00002661" "30" "6288" "0" "6288" "0" "c.6288C>T" "r.(?)" "p.(Val2096=)" "" "0000808717" "00002661" "30" "1479" "0" "1479" "0" "c.1479C>T" "r.(?)" "p.(Ala493=)" "" "0000808718" "00002661" "30" "2836" "0" "2836" "0" "c.2836C>A" "r.(?)" "p.(Pro946Thr)" "" "0000808719" "00002661" "30" "2837" "0" "2837" "0" "c.2837C>A" "r.(?)" "p.(Pro946Gln)" "" "0000808720" "00002661" "50" "3927" "0" "3935" "0" "c.3927_3935del" "r.(?)" "p.(Gly1310_Gly1312del)" "" "0000808722" "00002661" "30" "4210" "0" "4210" "0" "c.4210G>A" "r.(?)" "p.(Ala1404Thr)" "" "0000808723" "00002661" "30" "4215" "0" "4215" "0" "c.4215G>A" "r.(?)" "p.(Ser1405=)" "" "0000808724" "00002661" "30" "4684" "0" "4684" "0" "c.4684G>A" "r.(?)" "p.(Ala1562Thr)" "" "0000808725" "00002661" "30" "6693" "0" "6693" "0" "c.6693C>G" "r.(?)" "p.(Asp2231Glu)" "" "0000808726" "00002661" "30" "6723" "0" "6723" "0" "c.6723C>T" "r.(?)" "p.(Ser2241=)" "" "0000808727" "00002661" "30" "6858" "0" "6858" "0" "c.6858C>A" "r.(?)" "p.(Thr2286=)" "" "0000808728" "00002661" "30" "20409" "0" "20409" "0" "c.*13497C>T" "r.(=)" "p.(=)" "" "0000855464" "00002661" "30" "4557" "0" "4557" "0" "c.4557G>A" "r.(?)" "p.(Pro1519=)" "" "0000865906" "00002661" "50" "334" "0" "334" "0" "c.334G>A" "r.(?)" "p.(Gly112Ser)" "" "0000865907" "00002661" "30" "967" "0" "967" "0" "c.967G>C" "r.(?)" "p.(Gly323Arg)" "" "0000865908" "00002661" "30" "1063" "0" "1063" "0" "c.1063G>A" "r.(?)" "p.(Val355Ile)" "" "0000865909" "00002661" "30" "2845" "0" "2845" "0" "c.2845G>A" "r.(?)" "p.(Ala949Thr)" "" "0000865910" "00002661" "30" "3654" "0" "3654" "0" "c.3654C>T" "r.(?)" "p.(Pro1218=)" "" "0000865911" "00002661" "30" "4473" "0" "4473" "0" "c.4473G>A" "r.(?)" "p.(Gly1491=)" "" "0000865912" "00002661" "30" "4503" "0" "4503" "0" "c.4503C>T" "r.(?)" "p.(Pro1501=)" "" "0000865913" "00002661" "30" "4677" "0" "4677" "0" "c.4677G>A" "r.(?)" "p.(Pro1559=)" "" "0000865914" "00002661" "30" "6519" "0" "6519" "0" "c.6519G>C" "r.(?)" "p.(Thr2173=)" "" "0000894819" "00002661" "90" "3562" "0" "3562" "0" "c.3562C>T" "r.(?)" "p.(Gln1188*)" "" "0000915145" "00002661" "30" "1639" "-8" "1639" "-8" "c.1639-8T>A" "r.(=)" "p.(=)" "" "0000983248" "00002661" "50" "907" "0" "907" "0" "c.907G>A" "r.(?)" "p.(Glu303Lys)" "" "0000983249" "00002661" "30" "971" "0" "971" "0" "c.971C>T" "r.(?)" "p.(Thr324Ile)" "" "0000983250" "00002661" "30" "1317" "0" "1317" "0" "c.1317C>T" "r.(?)" "p.(=)" "" "0000983251" "00002661" "50" "1369" "0" "1369" "0" "c.1369C>A" "r.(?)" "p.(Pro457Thr)" "" "0000983252" "00002661" "50" "1735" "0" "1735" "0" "c.1735G>C" "r.(?)" "p.(Gly579Arg)" "" "0000983253" "00002661" "50" "1796" "0" "1796" "0" "c.1796G>A" "r.(?)" "p.(Ser599Asn)" "" "0000983254" "00002661" "50" "1804" "0" "1804" "0" "c.1804G>A" "r.(?)" "p.(Gly602Ser)" "" "0000983255" "00002661" "50" "2533" "0" "2538" "0" "c.2533_2538dup" "r.(?)" "p.(Ala845_Lys846dup)" "" "0000983256" "00002661" "50" "3927" "0" "3935" "0" "c.3927_3935del" "r.(?)" "p.(Gly1310_Gly1312del)" "" "0000983257" "00002661" "30" "4626" "0" "4626" "0" "c.4626G>A" "r.(?)" "p.(Pro1542=)" "" "0000983258" "00002661" "50" "5038" "0" "5038" "0" "c.5038G>A" "r.(?)" "p.(Asp1680Asn)" "" "0000983259" "00002661" "50" "5108" "0" "5108" "0" "c.5108C>A" "r.(?)" "p.(Ala1703Glu)" "" "0000983260" "00002661" "50" "5206" "0" "5206" "0" "c.5206A>G" "r.(?)" "p.(Arg1736Gly)" "" "0000983261" "00002661" "50" "6524" "0" "6524" "0" "c.6524A>G" "r.(?)" "p.(Glu2175Gly)" "" "0000983262" "00002661" "30" "6541" "0" "6541" "0" "c.6541C>T" "r.(?)" "p.(Pro2181Ser)" "" "0001004422" "00002661" "30" "241" "0" "241" "0" "c.241A>G" "r.(?)" "p.(Met81Val)" "" "0001004423" "00002661" "30" "419" "0" "419" "0" "c.419T>C" "r.(?)" "p.(Phe140Ser)" "" "0001004431" "00002661" "30" "1364" "0" "1364" "0" "c.1364G>A" "r.(?)" "p.(Arg455Gln)" "" "0001004432" "00002661" "50" "1798" "0" "1798" "0" "c.1798G>A" "r.(?)" "p.(Gly600Ser)" "" "0001004433" "00002661" "30" "1834" "0" "1834" "0" "c.1834G>A" "r.(?)" "p.(Ala612Thr)" "" "0001004434" "00002661" "30" "2929" "0" "2929" "0" "c.2929G>A" "r.(?)" "p.(Glu977Lys)" "" "0001004435" "00002661" "50" "2936" "0" "2936" "0" "c.2936C>T" "r.(?)" "p.(Pro979Leu)" "" "0001004436" "00002661" "30" "4562" "0" "4562" "0" "c.4562C>A" "r.(?)" "p.(Ala1521Asp)" "" "0001004437" "00002661" "50" "4566" "0" "4567" "0" "c.4566_4567del" "r.(?)" "p.(Pro1523Hisfs*48)" "" "0001004438" "00002661" "30" "5366" "0" "5366" "0" "c.5366G>A" "r.(?)" "p.(Arg1789Gln)" "" "0001004439" "00002661" "30" "6196" "0" "6196" "0" "c.6196C>G" "r.(?)" "p.(Pro2066Ala)" "" "0001004440" "00002661" "30" "6395" "0" "6395" "0" "c.6395A>G" "r.(?)" "p.(Glu2132Gly)" "" "0001004441" "00002661" "30" "6413" "0" "6413" "0" "c.6413G>T" "r.(?)" "p.(Arg2138Met)" "" "0001004442" "00002661" "30" "6532" "0" "6532" "0" "c.6532C>T" "r.(?)" "p.(Pro2178Ser)" "" "0001042681" "00002661" "50" "322" "0" "322" "0" "c.322A>C" "r.(?)" "p.(Ser108Arg)" "" "0001042682" "00002661" "50" "323" "0" "323" "0" "c.323G>T" "r.(?)" "p.(Ser108Ile)" "" "0001042683" "00002661" "50" "614" "0" "614" "0" "c.614C>A" "r.(?)" "p.(Ser205*)" "" "0001042684" "00002661" "30" "679" "0" "679" "0" "c.679C>T" "r.(?)" "p.(=)" "" "0001042685" "00002661" "50" "817" "-7" "817" "-2" "c.817-7_817-2dup" "r.spl?" "p.?" "" "0001042686" "00002661" "50" "967" "0" "967" "0" "c.967G>A" "r.(?)" "p.(Gly323Ser)" "" "0001042687" "00002661" "50" "1460" "0" "1460" "0" "c.1460G>A" "r.(?)" "p.(Arg487His)" "" "0001042688" "00002661" "30" "1611" "0" "1611" "0" "c.1611G>A" "r.(?)" "p.(=)" "" "0001042689" "00002661" "30" "1853" "4" "1853" "4" "c.1853+4G>A" "r.spl?" "p.?" "" "0001042690" "00002661" "50" "2303" "0" "2303" "0" "c.2303C>T" "r.(?)" "p.(Ala768Val)" "" "0001042691" "00002661" "50" "2590" "0" "2590" "0" "c.2590C>G" "r.(?)" "p.(Leu864Val)" "" "0001042692" "00002661" "50" "4067" "0" "4067" "0" "c.4067G>T" "r.(?)" "p.(Arg1356Leu)" "" "0001042694" "00002661" "50" "5859" "0" "5888" "0" "c.5859_5888del" "r.(?)" "p.(Arg1954_Pro1963del)" "" "0001056400" "00002661" "50" "79" "0" "79" "0" "c.79C>G" "r.(?)" "p.(Gln27Glu)" "" "0001056401" "00002661" "30" "256" "0" "256" "0" "c.256C>T" "r.(?)" "p.(=)" "" "0001056402" "00002661" "30" "483" "0" "483" "0" "c.483C>T" "r.(?)" "p.(Gly161=)" "" "0001056403" "00002661" "30" "640" "-7" "640" "-7" "c.640-7T>C" "r.(=)" "p.(=)" "" "0001056404" "00002661" "10" "687" "0" "687" "0" "c.687G>A" "r.(?)" "p.(=)" "" "0001056405" "00002661" "50" "1316" "0" "1316" "0" "c.1316C>A" "r.(?)" "p.(Ala439Asp)" "" "0001056406" "00002661" "50" "1521" "4" "1521" "4" "c.1521+4C>A" "r.spl?" "p.?" "" "0001056407" "00002661" "30" "1521" "9" "1521" "9" "c.1521+9C>T" "r.(=)" "p.(=)" "" "0001056408" "00002661" "50" "2267" "0" "2267" "0" "c.2267A>G" "r.(?)" "p.(Lys756Arg)" "" "0001056409" "00002661" "30" "2799" "0" "2799" "0" "c.2799C>T" "r.(?)" "p.(=)" "" "0001056410" "00002661" "50" "2903" "0" "2903" "0" "c.2903A>G" "r.(?)" "p.(Asp968Gly)" "" "0001056411" "00002661" "50" "3206" "0" "3206" "0" "c.3206G>A" "r.(?)" "p.(Arg1069Gln)" "" "0001056412" "00002661" "50" "3737" "0" "3737" "0" "c.3737G>A" "r.(?)" "p.(Cys1246Tyr)" "" "0001056413" "00002661" "30" "4470" "0" "4470" "0" "c.4470C>T" "r.(?)" "p.(=)" "" "0001056414" "00002661" "30" "5028" "0" "5028" "0" "c.5028C>T" "r.(?)" "p.(=)" "" "0001056415" "00002661" "50" "5596" "0" "5596" "0" "c.5596G>A" "r.(?)" "p.(Ala1866Thr)" "" "0001056416" "00002661" "50" "6907" "0" "6907" "0" "c.6907G>A" "r.(?)" "p.(Glu2303Lys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000267329" "0000598388" "0000267330" "0000598389" "0000267331" "0000598390" "0000267332" "0000598391" "0000267333" "0000598392" "0000267333" "0000598396" "0000267334" "0000598393" "0000267335" "0000598394" "0000267336" "0000598395" "0000270632" "0000604414" "0000270632" "0000604415" "0000297850" "0000660550"