### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AXIN1) # 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}}" "AXIN1" "axin 1" "16" "p13.3" "unknown" "NG_012267.1" "UD_132119067394" "" "https://www.LOVD.nl/AXIN1" "" "1" "903" "8312" "603816" "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/AXIN1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-12-10 12:55:13" "00000" "2026-01-20 18:57:21" ## 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}}" "00003192" "AXIN1" "transcript variant 1" "002" "NM_003502.3" "" "NP_003493.1" "" "" "" "-389" "3271" "2589" "402676" "337440" "" "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}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00091" "CRC" "cancer, colorectal, susceptibility to (CRC)" "AD;SMu" "114500" "" "" "" "00001" "2012-12-07 10:49:46" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01221" "cancer, liver" "cancer, hepatocellular (HCC)" "" "114550" "liver" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02718" "-" "Caudal duplication anomaly" "" "607864" "" "" "" "00006" "2014-09-25 23:29:40" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "AXIN1" "01221" "AXIN1" "02718" ## Individuals ## Do not remove or alter this header ## ## Count = 30 "{{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}}" "00090347" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090348" "" "" "" "18" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090350" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090351" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090352" "" "" "" "8" "" "01816" "" "gene panel study on controls" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090353" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090354" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090356" "" "" "" "2" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090357" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090358" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090359" "" "" "" "2" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090360" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090361" "" "" "" "1" "" "01816" "" "gene panel study on controls" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090362" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090363" "" "" "" "2" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090364" "" "" "" "7" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090365" "" "" "" "1" "" "01816" "" "gene panel study on controls" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090366" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090367" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090368" "" "" "" "1" "" "01816" "" "gene panel study on controls" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090369" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090370" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090880" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00436483" "" "" "" "2" "" "00006" "{PMID:Terhal 2023:37582359}" "2-generation family, 2 affected sisters, unaffected heterozygous parents/relatives" "F" "" "" "" "0" "" "" "" "Fam1PatII1" "00436484" "" "" "00436483" "1" "" "00006" "{PMID:Terhal 2023:37582359}" "sister" "F" "" "" "" "0" "" "" "" "Fam1PatII4" "00436485" "" "" "" "1" "" "00006" "{PMID:Terhal 2023:37582359}" "2-generation family, 1 affected, unaffected heterozygous parents/relatives" "M" "yes" "" "" "0" "" "" "" "Fam2PatII2" "00436486" "" "" "" "1" "" "00006" "{PMID:Terhal 2023:37582359}" "2-generation family, 1 affected, unaffected heterozygous parents/relatives" "F" "yes" "" "" "0" "" "" "" "Fam3PatIII1" "00436487" "" "" "" "3" "" "00006" "{PMID:Terhal 2023:37582359}" "2-generation family, 3 affected, unaffected heterozygous parents/relatives" "F" "yes" "" "" "0" "" "" "" "Fam4PatIII1" "00436488" "" "" "00436487" "1" "" "00006" "{PMID:Terhal 2023:37582359}" "relative" "F" "yes" "" "" "0" "" "" "" "Fam4PatIII3" "00436489" "" "" "00436487" "1" "" "00006" "{PMID:Terhal 2023:37582359}" "relative" "M" "yes" "" "" "0" "" "" "" "Fam4PatIII4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 30 "{{individualid}}" "{{diseaseid}}" "00090347" "00091" "00090348" "00091" "00090350" "00091" "00090351" "00091" "00090352" "00000" "00090353" "00091" "00090354" "00091" "00090356" "00091" "00090357" "00091" "00090358" "00091" "00090359" "00091" "00090360" "00091" "00090361" "00000" "00090362" "00091" "00090363" "00091" "00090364" "00091" "00090365" "00000" "00090366" "00091" "00090367" "00091" "00090368" "00000" "00090369" "00091" "00090370" "00091" "00090880" "00091" "00436483" "00198" "00436484" "00198" "00436485" "00198" "00436486" "00198" "00436487" "00198" "00436488" "00198" "00436489" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00091, 00198, 01221, 02718 ## Count = 7 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Cysts}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Eye/Retina}}" "{{Phenotype/Neoplasm}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000326661" "00198" "00436483" "00006" "Familial, autosomal recessive" "15y6m" "see paper; ..., height 158.2cm (−1.41 SD), OFC +2.2 SD; temporary selective mutism; hypertelorism; low nasal bridge; hip dysplasia/luxation; patent ductus arteriosus; no hematological abnormalities; calvarial thickening; sandwich vertebrae; cortical thickening; metaphyseal flaring; coarse trabeculae; MRI brain mild pachygyria with thick frontal/temporal cortex, choanal stenosis; ultrasound abdomen normal" "" "" "" "" "" "" "" "" "" "" "" "" "craniometadiaphyseal osteosclerosis, hip dysplasia" "" "0000326662" "00198" "00436484" "00006" "Familial, autosomal recessive" "8y5m" "see paper; ..., height 131.2cm (−0.44 SD), OFC +2.5 SD; selective mutism; hypertelorism; low nasal bridge; hip dysplasia/luxation; no cardiac abnormalities; mild anemia; calvarial thickening; sandwich vertebrae; cortical thickening; metaphyseal flaring; coarse trabeculae; MRI brain calcified cephalic hematoma; ultrasound abdomen normal" "" "" "" "" "" "" "" "" "" "" "" "" "craniometadiaphyseal osteosclerosis, hip dysplasia" "" "0000326663" "00198" "00436485" "00006" "Familial, autosomal recessive" "7y1m" "see paper; ..., height 113.5cm (−1.9 SD), OFC +3.4 SD; global developmental delay; hypertelorism; low nasal bridge; no hip dysplasia/luxation; atrium septum defect, ventricular septal defect; pancytopenia, transfusions; 28d-no calvarial thickening; sandwich vertebrae; coarse trabeculae; MRI brain ectopic pituitary gland, corpus callosum hypoplasia; ultrasound abdomen bilateral duplex kidneys" "" "" "" "" "" "" "" "" "" "" "" "" "craniometadiaphyseal osteosclerosis, hip dysplasia" "" "0000326664" "00198" "00436486" "00006" "Familial, autosomal recessive" "15y6m" "see paper; ..., height 160.6cm (−0.25 SD), OFC +6.1 SD; normal development; hypertelorism; low nasal bridge; hip dysplasia/luxation; no cardiac abnormalities; no hematological abnormalities; calvarial thickening; sandwich vertebrae; cortical thickening; coarse trabeculae; MRI brain arachnoid cyst middle cranial fossa; ultrasound abdomen mild hepatomegaly" "" "" "" "" "" "" "" "" "" "" "" "" "craniometadiaphyseal osteosclerosis, hip dysplasia" "" "0000326665" "00198" "00436487" "00006" "Familial, autosomal recessive" "3y" "see paper; ..., height 85cm (−2.95 SD); global developmental delay; hypertelorism; low nasal bridge; hip dysplasia/luxation; no cardiac abnormalities; pancytopenia, transfusions, dyserythropoietic changes; calvarial thickening; sandwich vertebrae; cortical thickening; coarse trabeculae; MRI brain brain atrophy; ultrasound abdomen hepatomegaly" "" "" "" "" "" "" "" "" "" "" "" "" "craniometadiaphyseal osteosclerosis, hip dysplasia" "" "0000326666" "00198" "00436488" "00006" "Familial, autosomal recessive" "3y" "see paper; ..., height 79cm (−3.87 SD), OFC +1.3 SD; global developmental delay; hypertelorism; low nasal bridge; hip dysplasia/luxation; no cardiac abnormalities; pancytopenia, transfusions; calvarial thickening; sandwich vertebrae; cortical thickening; metaphyseal flaring; ultrasound abdomen coarse trabeculae" "" "" "" "" "" "" "" "" "" "" "" "" "craniometadiaphyseal osteosclerosis, hip dysplasia" "" "0000326667" "00198" "00436489" "00006" "Familial, autosomal recessive" "3m" "see paper; ..., height 49cm (−4.3 SD), OFC +1.7 SD; motor developmental delay; hypertelorism; low nasal bridge; atrium septum defect, ventricular septal defect; mild anemia; MRI brain normal; ultrasound abdomen normal" "" "" "" "" "" "" "" "" "" "" "" "" "craniometadiaphyseal osteosclerosis, hip dysplasia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 30 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000090492" "00090347" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090493" "00090348" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090495" "00090350" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090496" "00090351" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090497" "00090352" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090498" "00090353" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090499" "00090354" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090501" "00090356" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090502" "00090357" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090503" "00090358" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090504" "00090359" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090505" "00090360" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090506" "00090361" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090507" "00090362" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090508" "00090363" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090509" "00090364" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090510" "00090365" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090511" "00090366" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090512" "00090367" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090513" "00090368" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090514" "00090369" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090515" "00090370" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000091025" "00090880" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000437967" "00436483" "1" "00006" "00006" "2023-09-18 15:25:36" "" "" "SEQ-NG" "DNA" "" "WES" "0000437968" "00436484" "1" "00006" "00006" "2023-09-18 15:25:36" "" "" "SEQ-NG" "DNA" "" "WES" "0000437969" "00436485" "1" "00006" "00006" "2023-09-18 15:25:36" "" "" "SEQ-NG" "DNA" "" "WES" "0000437970" "00436486" "1" "00006" "00006" "2023-09-18 15:25:36" "" "" "SEQ-NG" "DNA" "" "WES" "0000437971" "00436487" "1" "00006" "00006" "2023-09-18 15:25:36" "" "" "SEQ-NG" "DNA" "" "WES" "0000437972" "00436488" "1" "00006" "00006" "2023-09-18 15:25:36" "" "" "SEQ-NG" "DNA" "" "WES" "0000437973" "00436489" "1" "00006" "00006" "2023-09-18 15:25:36" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{geneid}}" "0000090492" "AXIN1" "0000090493" "AXIN1" "0000090495" "AXIN1" "0000090496" "AXIN1" "0000090497" "AXIN1" "0000090498" "AXIN1" "0000090499" "AXIN1" "0000090501" "AXIN1" "0000090502" "AXIN1" "0000090503" "AXIN1" "0000090504" "AXIN1" "0000090505" "AXIN1" "0000090506" "AXIN1" "0000090507" "AXIN1" "0000090508" "AXIN1" "0000090509" "AXIN1" "0000090510" "AXIN1" "0000090511" "AXIN1" "0000090512" "AXIN1" "0000090513" "AXIN1" "0000090514" "AXIN1" "0000090515" "AXIN1" "0000091025" "AXIN1" ## 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 = 89 "{{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}}" "0000148621" "1" "50" "16" "338148" "338148" "subst" "0" "01816" "AXIN1_000018" "g.338148T>C" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.288148T>C" "" "VUS" "" "0000148622" "1" "50" "16" "338189" "338189" "subst" "0.00861332" "01816" "AXIN1_000019" "g.338189C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.288189C>T" "" "VUS" "" "0000148624" "1" "50" "16" "339599" "339599" "subst" "0.000118718" "01816" "AXIN1_000020" "g.339599G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.289599G>A" "" "VUS" "" "0000148625" "1" "50" "16" "347063" "347063" "subst" "0.0164083" "01816" "AXIN1_000021" "g.347063C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.297063C>T" "" "VUS" "" "0000148626" "1" "50" "16" "347063" "347063" "subst" "0.0164083" "01816" "AXIN1_000021" "g.347063C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.297063C>T" "" "VUS" "" "0000148627" "1" "50" "16" "347173" "347173" "subst" "1.63555E-5" "01816" "AXIN1_000017" "g.347173T>C" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.297173T>C" "" "VUS" "" "0000148628" "1" "50" "16" "347213" "347213" "subst" "2.07135E-5" "01816" "AXIN1_000006" "g.347213C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.297213C>T" "" "VUS" "" "0000148630" "1" "50" "16" "354353" "354353" "subst" "0.000687188" "01816" "AXIN1_000007" "g.354353G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.304353G>A" "" "VUS" "" "0000148631" "1" "50" "16" "354411" "354411" "subst" "0.00026605" "01816" "AXIN1_000008" "g.354411C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.304411C>T" "" "VUS" "" "0000148632" "1" "50" "16" "354413" "354413" "subst" "0.000149688" "01816" "AXIN1_000009" "g.354413C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.304413C>T" "" "VUS" "" "0000148633" "1" "50" "16" "354414" "354414" "subst" "5.8228E-5" "01816" "AXIN1_000010" "g.354414G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.304414G>A" "" "VUS" "" "0000148634" "1" "50" "16" "354431" "354431" "subst" "2.51004E-5" "01816" "AXIN1_000011" "g.354431C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.304431C>T" "" "VUS" "" "0000148635" "1" "50" "16" "364555" "364555" "subst" "1.22226E-5" "01816" "AXIN1_000012" "g.364555G>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.314555G>T" "" "VUS" "" "0000148636" "1" "50" "16" "364598" "364598" "subst" "8.13491E-6" "01816" "AXIN1_000013" "g.364598C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.314598C>T" "" "VUS" "" "0000148637" "1" "50" "16" "396193" "396193" "subst" "0.00050849" "01816" "AXIN1_000014" "g.396193G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.346193G>A" "" "VUS" "" "0000148638" "1" "50" "16" "396221" "396221" "subst" "0.000743322" "01816" "AXIN1_000015" "g.396221G>C" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.346221G>C" "" "VUS" "" "0000148639" "1" "50" "16" "396239" "396239" "subst" "0.000154327" "01816" "AXIN1_000016" "g.396239G>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.346239G>T" "" "VUS" "" "0000148640" "1" "50" "16" "396440" "396440" "subst" "0" "01816" "AXIN1_000001" "g.396440T>C" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.346440T>C" "" "VUS" "" "0000148641" "1" "50" "16" "396626" "396626" "subst" "3.94775E-5" "01816" "AXIN1_000002" "g.396626C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.346626C>T" "" "VUS" "" "0000148642" "1" "50" "16" "396727" "396727" "subst" "0.000288108" "01816" "AXIN1_000003" "g.396727C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.346727C>T" "" "VUS" "" "0000148643" "1" "50" "16" "396838" "396838" "subst" "1.22056E-5" "01816" "AXIN1_000004" "g.396838C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.346838C>T" "" "VUS" "" "0000148644" "1" "50" "16" "396889" "396889" "subst" "1.62506E-5" "01816" "AXIN1_000005" "g.396889G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.346889G>A" "" "VUS" "" "0000149154" "3" "50" "16" "347063" "347063" "subst" "0.0164083" "01816" "AXIN1_000021" "g.347063C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.297063C>T" "" "VUS" "" "0000248683" "0" "10" "16" "396264" "396264" "subst" "0.608033" "02325" "AXIN1_000026" "g.396264A>G" "" "" "" "AXIN1(NM_003502.4):c.762T>C (p.D254=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.346264A>G" "" "benign" "" "0000249208" "0" "10" "16" "359953" "359953" "subst" "0.624511" "02325" "AXIN1_000024" "g.359953A>G" "" "" "" "AXIN1(NM_003502.4):c.1116+20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.309953A>G" "" "benign" "" "0000259214" "0" "10" "16" "397044" "397044" "subst" "0.222272" "02325" "AXIN1_000027" "g.397044G>T" "" "" "" "AXIN1(NM_003502.4):c.-19C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.347044G>T" "" "benign" "" "0000259215" "0" "10" "16" "354287" "354287" "subst" "0.139661" "02325" "AXIN1_000023" "g.354287C>T" "" "" "" "AXIN1(NM_003502.4):c.1254+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.304287C>T" "" "benign" "" "0000324351" "0" "30" "16" "334380" "334380" "subst" "0" "01804" "ARHGDIG_000007" "g.334380C>T" "" "" "" "PDIA2(NM_006849.2):c.200-7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.284380C>T" "" "likely benign" "" "0000324352" "0" "50" "16" "334920" "334920" "subst" "0.00878136" "01804" "PDIA2_000001" "g.334920C>T" "" "" "" "PDIA2(NM_006849.2):c.583C>T (p.(Gln195Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.284920C>T" "" "VUS" "" "0000324354" "0" "30" "16" "335639" "335639" "subst" "0.00702655" "01804" "PDIA2_000002" "g.335639G>T" "" "" "" "PDIA2(NM_006849.2):c.1055G>T (p.(Gly352Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.285639G>T" "" "likely benign" "" "0000324360" "0" "50" "16" "360035" "360035" "subst" "0.000102724" "01804" "AXIN1_000025" "g.360035G>T" "" "" "" "AXIN1(NM_003502.3):c.1054C>A (p.(His352Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.310035G>T" "" "VUS" "" "0000558056" "0" "30" "16" "333208" "333210" "dup" "0" "02325" "ARHGDIG_000003" "g.333208_333210dup" "" "" "" "PDIA2(NM_006849.4):c.39_41dupGCT (p.L14dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.283208_283210dup" "" "likely benign" "" "0000558057" "0" "30" "16" "333270" "333270" "subst" "1.23209E-5" "01943" "ARHGDIG_000004" "g.333270C>T" "" "" "" "PDIA2(NM_006849.3):c.101C>T (p.P34L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.283270C>T" "" "likely benign" "" "0000558058" "0" "30" "16" "333284" "333284" "subst" "0.00470493" "01804" "ARHGDIG_000005" "g.333284C>T" "" "" "" "PDIA2(NM_006849.2):c.115C>T (p.(Pro39Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.283284C>T" "" "likely benign" "" "0000558062" "0" "30" "16" "335151" "335151" "subst" "6.92244E-5" "01804" "ARHGDIG_000010" "g.335151G>T" "" "" "" "PDIA2(NM_006849.2):c.746G>T (p.(Arg249Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.285151G>T" "" "likely benign" "" "0000558065" "0" "30" "16" "335384" "335384" "subst" "0" "01943" "ARHGDIG_000013" "g.335384C>T" "" "" "" "PDIA2(NM_006849.3):c.868C>T (p.H290Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.285384C>T" "" "likely benign" "" "0000558066" "0" "50" "16" "335418" "335418" "subst" "2.07206E-5" "02325" "ARHGDIG_000014" "g.335418C>T" "" "" "" "PDIA2(NM_006849.4):c.902C>T (p.A301V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.285418C>T" "" "VUS" "" "0000558069" "0" "50" "16" "336866" "336866" "subst" "2.96811E-5" "01804" "ARHGDIG_000017" "g.336866A>G" "" "" "" "PDIA2(NM_006849.2):c.1454A>G (p.(Glu485Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.286866A>G" "" "VUS" "" "0000558070" "0" "30" "16" "336890" "336890" "dup" "0" "01804" "ARHGDIG_000018" "g.336890dup" "" "" "" "PDIA2(NM_006849.2):c.1476_1477insA (p.(Asn493LysfsTer64))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.286890dup" "" "likely benign" "" "0000558073" "0" "30" "16" "341241" "341241" "subst" "0" "01804" "AXIN1_000029" "g.341241G>A" "" "" "" "AXIN1(NM_003502.3):c.2243C>T (p.P748L, p.(Pro748Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.291241G>A" "" "likely benign" "" "0000558076" "0" "30" "16" "343484" "343484" "subst" "0.00150161" "01804" "AXIN1_000030" "g.343484G>A" "" "" "" "AXIN1(NM_003502.3):c.2186+4C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.293484G>A" "" "likely benign" "" "0000558077" "0" "30" "16" "343685" "343685" "subst" "8.20297E-6" "01804" "AXIN1_000031" "g.343685C>A" "" "" "" "AXIN1(NM_003502.3):c.1989G>T (p.(Glu663Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.293685C>A" "" "likely benign" "" "0000558078" "0" "30" "16" "343692" "343692" "subst" "1.23115E-5" "01804" "AXIN1_000032" "g.343692G>T" "" "" "" "AXIN1(NM_003502.3):c.1982C>A (p.(Pro661His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.293692G>T" "" "likely benign" "" "0000558080" "0" "30" "16" "347063" "347063" "subst" "0.0164083" "01804" "AXIN1_000021" "g.347063C>T" "" "" "" "AXIN1(NM_003502.4):c.1948G>A (p.(Gly650Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.297063C>T" "" "likely benign" "" "0000558081" "0" "50" "16" "347719" "347719" "subst" "0" "01943" "AXIN1_000033" "g.347719C>G" "" "" "" "AXIN1(NM_003502.3):c.1784+3G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.297719C>G" "" "VUS" "" "0000558082" "0" "30" "16" "347829" "347829" "subst" "0.00353619" "01943" "AXIN1_000034" "g.347829C>T" "" "" "" "AXIN1(NM_003502.3):c.1677G>A (p.Q559=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.297829C>T" "" "likely benign" "" "0000558083" "0" "30" "16" "347929" "347929" "subst" "0.000732416" "01804" "AXIN1_000035" "g.347929G>A" "" "" "" "AXIN1(NM_003502.3):c.1577C>T (p.(Ala526Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.297929G>A" "" "likely benign" "" "0000558084" "0" "30" "16" "347930" "347930" "subst" "0.000617004" "02325" "AXIN1_000036" "g.347930C>T" "" "" "" "AXIN1(NM_003502.4):c.1576G>A (p.A526T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.297930C>T" "" "likely benign" "" "0000558086" "0" "30" "16" "354425" "354425" "subst" "3.75817E-5" "01804" "AXIN1_000037" "g.354425G>C" "" "" "" "AXIN1(NM_003502.3):c.1133C>G (p.(Pro378Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.304425G>C" "" "likely benign" "" "0000558204" "0" "30" "16" "396193" "396193" "subst" "0.00050849" "01804" "AXIN1_000014" "g.396193G>A" "" "" "" "AXIN1(NM_003502.3):c.833C>T (p.(Pro278Leu)), AXIN1(NM_003502.4):c.833C>T (p.P278L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.346193G>A" "" "likely benign" "" "0000615964" "0" "50" "16" "354314" "354314" "subst" "0.000120195" "02325" "AXIN1_000040" "g.354314C>T" "" "" "" "AXIN1(NM_003502.3):c.1244G>A (p.(Arg415His)), AXIN1(NM_003502.4):c.1244G>A (p.R415H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.304314C>T" "" "VUS" "" "0000623452" "0" "50" "16" "335708" "335708" "subst" "0.00045938" "02325" "ARHGDIG_000015" "g.335708G>A" "" "" "" "PDIA2(NM_006849.4):c.1119+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.285708G>A" "" "VUS" "" "0000657837" "0" "30" "16" "343484" "343484" "subst" "0.00150161" "01943" "AXIN1_000030" "g.343484G>A" "" "" "" "AXIN1(NM_003502.3):c.2186+4C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.293484G>A" "" "likely benign" "" "0000680560" "0" "50" "16" "341241" "341241" "subst" "0" "01943" "AXIN1_000029" "g.341241G>A" "" "" "" "AXIN1(NM_003502.3):c.2243C>T (p.P748L, p.(Pro748Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692063" "0" "50" "16" "341287" "341287" "subst" "1.10562E-5" "01943" "AXIN1_000041" "g.341287C>A" "" "" "" "AXIN1(NM_003502.3):c.2197G>T (p.E733*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725765" "0" "50" "16" "334697" "334697" "subst" "3.40209E-5" "02325" "ARHGDIG_000020" "g.334697C>T" "" "" "" "PDIA2(NM_006849.4):c.445C>T (p.R149W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807379" "0" "50" "16" "335548" "335548" "subst" "8.13749E-5" "02325" "ARHGDIG_000021" "g.335548G>C" "" "" "" "PDIA2(NM_006849.4):c.964G>C (p.V322L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854513" "0" "50" "16" "396193" "396193" "subst" "0.00050849" "02325" "AXIN1_000014" "g.396193G>A" "" "" "" "AXIN1(NM_003502.3):c.833C>T (p.(Pro278Leu)), AXIN1(NM_003502.4):c.833C>T (p.P278L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000933454" "3" "90" "16" "338211" "338211" "dup" "0" "00006" "AXIN1_000043" "g.338211dup" "" "{PMID:Terhal 2023:37582359}" "" "2395dupG" "" "Germline" "yes" "" "0" "" "" "g.288211dup" "" "pathogenic (recessive)" "" "0000933455" "3" "90" "16" "338211" "338211" "dup" "0" "00006" "AXIN1_000043" "g.338211dup" "" "{PMID:Terhal 2023:37582359}" "" "2396dupG" "" "Germline" "yes" "" "0" "" "" "g.288211dup" "" "pathogenic (recessive)" "" "0000933456" "3" "90" "16" "343507" "343507" "subst" "0" "00006" "AXIN1_000044" "g.343507G>A" "" "{PMID:Terhal 2023:37582359}" "" "" "" "Germline" "" "" "0" "" "" "g.293507G>A" "" "pathogenic (recessive)" "" "0000933457" "3" "90" "16" "338190" "338190" "subst" "4.06868E-6" "00006" "AXIN1_000042" "g.338190G>A" "" "{PMID:Terhal 2023:37582359}" "" "" "" "Germline" "" "" "0" "" "" "g.288190G>A" "" "pathogenic (recessive)" "" "0000933458" "3" "90" "16" "343507" "343507" "subst" "0" "00006" "AXIN1_000044" "g.343507G>A" "" "{PMID:Terhal 2023:37582359}" "" "" "" "Germline" "yes" "" "0" "" "" "g.293507G>A" "" "pathogenic (recessive)" "" "0000933459" "3" "90" "16" "343507" "343507" "subst" "0" "00006" "AXIN1_000044" "g.343507G>A" "" "{PMID:Terhal 2023:37582359}" "" "" "" "Germline" "yes" "" "0" "" "" "g.293507G>A" "" "pathogenic (recessive)" "" "0000933460" "3" "90" "16" "343507" "343507" "subst" "0" "00006" "AXIN1_000044" "g.343507G>A" "" "{PMID:Terhal 2023:37582359}" "" "" "" "Germline" "yes" "" "0" "" "" "g.293507G>A" "" "pathogenic (recessive)" "" "0000950653" "0" "50" "16" "336413" "336413" "subst" "0.000187238" "02325" "ARHGDIG_000022" "g.336413G>A" "" "" "" "PDIA2(NM_006849.4):c.1180G>A (p.V394M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981875" "0" "30" "16" "336730" "336730" "subst" "0.00303303" "01804" "ARHGDIG_000023" "g.336730C>A" "" "" "" "PDIA2(NM_006849.4):c.1417C>A (p.(Arg473=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981876" "0" "50" "16" "360059" "360059" "subst" "0" "01804" "AXIN1_000045" "g.360059G>A" "" "" "" "AXIN1(NM_003502.4):c.1030C>T (p.(Pro344Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981906" "0" "30" "16" "396140" "396140" "subst" "0.000163639" "01804" "AXIN1_000046" "g.396140G>A" "" "" "" "AXIN1(NM_003502.4):c.878+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002299" "0" "50" "16" "333339" "333339" "subst" "4.19122E-5" "01804" "ARHGDIG_000024" "g.333339G>A" "" "" "" "PDIA2(NM_006849.2):c.170G>A (p.(Arg57Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002301" "0" "30" "16" "335097" "335097" "subst" "0" "01804" "ARHGDIG_000025" "g.335097G>C" "" "" "" "PDIA2(NM_006849.2):c.692G>C (p.(Arg231Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002302" "0" "30" "16" "339492" "339492" "subst" "3.25895E-5" "01804" "AXIN1_000047" "g.339492C>T" "" "" "" "AXIN1(NM_003502.3):c.2410G>A (p.(Ala804Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002303" "0" "30" "16" "343545" "343545" "subst" "2.88838E-5" "01804" "AXIN1_000048" "g.343545G>A" "" "" "" "AXIN1(NM_003502.3):c.2129C>T (p.(Ala710Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002305" "0" "30" "16" "347904" "347904" "subst" "8.71802E-6" "01804" "AXIN1_000049" "g.347904G>T" "" "" "" "AXIN1(NM_003502.3):c.1602C>A (p.(His534Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002306" "0" "50" "16" "348089" "348089" "subst" "0" "01804" "AXIN1_000050" "g.348089C>T" "" "" "" "AXIN1(NM_003502.3):c.1417G>A (p.(Glu473Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002307" "0" "50" "16" "354314" "354314" "subst" "0.000120195" "01804" "AXIN1_000040" "g.354314C>T" "" "" "" "AXIN1(NM_003502.3):c.1244G>A (p.(Arg415His)), AXIN1(NM_003502.4):c.1244G>A (p.R415H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002308" "0" "30" "16" "354413" "354413" "subst" "0.000149688" "01804" "AXIN1_000009" "g.354413C>T" "" "" "" "AXIN1(NM_003502.3):c.1145G>A (p.(Arg382His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002309" "0" "50" "16" "360015" "360015" "subst" "4.09048E-6" "01804" "AXIN1_000051" "g.360015C>G" "" "" "" "AXIN1(NM_003502.3):c.1074G>C (p.(Glu358Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002320" "0" "50" "16" "364555" "364555" "subst" "4.48164E-5" "01804" "AXIN1_000052" "g.364555G>A" "" "" "" "AXIN1(NM_003502.3):c.1007C>T (p.(Thr336Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002360" "0" "50" "16" "396155" "396155" "subst" "0" "01804" "AXIN1_000053" "g.396155C>G" "" "" "" "AXIN1(NM_003502.3):c.871G>C (p.(Glu291Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002361" "0" "30" "16" "396382" "396382" "subst" "0.000402024" "01804" "AXIN1_000054" "g.396382G>A" "" "" "" "AXIN1(NM_003502.3):c.644C>T (p.(Ser215Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002362" "0" "30" "16" "396727" "396727" "subst" "0.000288108" "01804" "AXIN1_000003" "g.396727C>T" "" "" "" "AXIN1(NM_003502.3):c.299G>A (p.(Ser100Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002363" "0" "50" "16" "396839" "396839" "subst" "1.2203E-5" "01804" "AXIN1_000055" "g.396839G>A" "" "" "" "AXIN1(NM_003502.3):c.187C>T (p.(Arg63Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041091" "0" "30" "16" "334531" "334531" "subst" "0.00440937" "01804" "ARHGDIG_000026" "g.334531C>T" "" "" "" "PDIA2(NM_006849.4):c.344C>T (p.(Thr115Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041092" "0" "50" "16" "339440" "339440" "subst" "4.0793E-6" "01804" "AXIN1_000056" "g.339440C>G" "" "" "" "AXIN1(NM_003502.4):c.2462G>C (p.(Arg821Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041093" "0" "50" "16" "354353" "354353" "subst" "0.000687188" "01804" "AXIN1_000007" "g.354353G>A" "" "" "" "AXIN1(NM_003502.4):c.1205C>T (p.(Thr402Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055285" "0" "50" "16" "341250" "341250" "subst" "8.84164E-5" "01804" "AXIN1_000057" "g.341250G>A" "" "" "" "AXIN1(NM_003502.4):c.2234C>T (p.(Ala745Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055286" "0" "50" "16" "348128" "348128" "subst" "0" "01804" "AXIN1_000058" "g.348128G>A" "" "" "" "AXIN1(NM_003502.4):c.1378C>T (p.(Arg460Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066319" "0" "50" "16" "335594" "335594" "subst" "1.62733E-5" "02325" "ARHGDIG_000027" "g.335594G>A" "" "" "" "" "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 AXIN1 ## Count = 89 "{{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}}" "0000148621" "00003192" "00" "2563" "0" "2563" "0" "c.2563A>G" "r.(?)" "p.(Ile855Val)" "" "0000148622" "00003192" "00" "2522" "0" "2522" "0" "c.2522G>A" "r.(?)" "p.(Arg841Gln)" "" "0000148624" "00003192" "00" "2303" "0" "2303" "0" "c.2303C>T" "r.(?)" "p.(Ser768Leu)" "" "0000148625" "00003192" "00" "1948" "0" "1948" "0" "c.1948G>A" "r.(?)" "p.(Gly650Ser)" "" "0000148626" "00003192" "00" "1948" "0" "1948" "0" "c.1948G>A" "r.(?)" "p.(Gly650Ser)" "" "0000148627" "00003192" "00" "1838" "0" "1838" "0" "c.1838A>G" "r.(?)" "p.(Lys613Arg)" "" "0000148628" "00003192" "00" "1798" "0" "1798" "0" "c.1798G>A" "r.(?)" "p.(Val600Met)" "" "0000148630" "00003192" "00" "1205" "0" "1205" "0" "c.1205C>T" "r.(?)" "p.(Thr402Met)" "" "0000148631" "00003192" "00" "1147" "0" "1147" "0" "c.1147G>A" "r.(?)" "p.(Val383Met)" "" "0000148632" "00003192" "00" "1145" "0" "1145" "0" "c.1145G>A" "r.(?)" "p.(Arg382His)" "" "0000148633" "00003192" "00" "1144" "0" "1144" "0" "c.1144C>T" "r.(?)" "p.(Arg382Cys)" "" "0000148634" "00003192" "00" "1127" "0" "1127" "0" "c.1127G>A" "r.(?)" "p.(Arg376Gln)" "" "0000148635" "00003192" "00" "1007" "0" "1007" "0" "c.1007C>A" "r.(?)" "p.(Thr336Lys)" "" "0000148636" "00003192" "00" "964" "0" "964" "0" "c.964G>A" "r.(?)" "p.(Glu322Lys)" "" "0000148637" "00003192" "00" "833" "0" "833" "0" "c.833C>T" "r.(?)" "p.(Pro278Leu)" "" "0000148638" "00003192" "00" "805" "0" "805" "0" "c.805C>G" "r.(?)" "p.(Gln269Glu)" "" "0000148639" "00003192" "00" "787" "0" "787" "0" "c.787C>A" "r.(?)" "p.(Pro263Thr)" "" "0000148640" "00003192" "00" "586" "0" "586" "0" "c.586A>G" "r.(?)" "p.(Asn196Asp)" "" "0000148641" "00003192" "00" "400" "0" "400" "0" "c.400G>A" "r.(?)" "p.(Glu134Lys)" "" "0000148642" "00003192" "00" "299" "0" "299" "0" "c.299G>A" "r.(?)" "p.(Ser100Asn)" "" "0000148643" "00003192" "00" "188" "0" "188" "0" "c.188G>A" "r.(?)" "p.(Arg63His)" "" "0000148644" "00003192" "00" "137" "0" "137" "0" "c.137C>T" "r.(?)" "p.(Ser46Phe)" "" "0000149154" "00003192" "00" "1948" "0" "1948" "0" "c.1948G>A" "r.(?)" "p.(Gly650Ser)" "" "0000248683" "00003192" "10" "762" "0" "762" "0" "c.762T>C" "r.(?)" "p.(Asp254=)" "" "0000249208" "00003192" "10" "1116" "20" "1116" "20" "c.1116+20T>C" "r.(=)" "p.(=)" "" "0000259214" "00003192" "10" "-19" "0" "-19" "0" "c.-19C>A" "r.(?)" "p.(=)" "" "0000259215" "00003192" "10" "1254" "17" "1254" "17" "c.1254+17G>A" "r.(=)" "p.(=)" "" "0000324351" "00003192" "30" "6331" "0" "6331" "0" "c.*3742G>A" "r.(=)" "p.(=)" "" "0000324352" "00003192" "50" "5791" "0" "5791" "0" "c.*3202G>A" "r.(=)" "p.(=)" "" "0000324354" "00003192" "30" "5072" "0" "5072" "0" "c.*2483C>A" "r.(=)" "p.(=)" "" "0000324360" "00003192" "50" "1054" "0" "1054" "0" "c.1054C>A" "r.(?)" "p.(His352Asn)" "" "0000558056" "00003192" "30" "7515" "0" "7517" "0" "c.*4926_*4928dup" "r.(=)" "p.(=)" "" "0000558057" "00003192" "30" "7441" "0" "7441" "0" "c.*4852G>A" "r.(=)" "p.(=)" "" "0000558058" "00003192" "30" "7427" "0" "7427" "0" "c.*4838G>A" "r.(=)" "p.(=)" "" "0000558062" "00003192" "30" "5560" "0" "5560" "0" "c.*2971C>A" "r.(=)" "p.(=)" "" "0000558065" "00003192" "30" "5327" "0" "5327" "0" "c.*2738G>A" "r.(=)" "p.(=)" "" "0000558066" "00003192" "50" "5293" "0" "5293" "0" "c.*2704G>A" "r.(=)" "p.(=)" "" "0000558069" "00003192" "50" "3845" "0" "3845" "0" "c.*1256T>C" "r.(=)" "p.(=)" "" "0000558070" "00003192" "30" "3822" "0" "3822" "0" "c.*1233dup" "r.(?)" "p.(=)" "" "0000558073" "00003192" "30" "2243" "0" "2243" "0" "c.2243C>T" "r.(?)" "p.(Pro748Leu)" "" "0000558076" "00003192" "30" "2186" "4" "2186" "4" "c.2186+4C>T" "r.spl?" "p.?" "" "0000558077" "00003192" "30" "1989" "0" "1989" "0" "c.1989G>T" "r.(?)" "p.(Glu663Asp)" "" "0000558078" "00003192" "30" "1982" "0" "1982" "0" "c.1982C>A" "r.(?)" "p.(Pro661His)" "" "0000558080" "00003192" "30" "1948" "0" "1948" "0" "c.1948G>A" "r.(?)" "p.(Gly650Ser)" "" "0000558081" "00003192" "50" "1784" "3" "1784" "3" "c.1784+3G>C" "r.spl?" "p.?" "" "0000558082" "00003192" "30" "1677" "0" "1677" "0" "c.1677G>A" "r.(?)" "p.(Gln559=)" "" "0000558083" "00003192" "30" "1577" "0" "1577" "0" "c.1577C>T" "r.(?)" "p.(Ala526Val)" "" "0000558084" "00003192" "30" "1576" "0" "1576" "0" "c.1576G>A" "r.(?)" "p.(Ala526Thr)" "" "0000558086" "00003192" "30" "1133" "0" "1133" "0" "c.1133C>G" "r.(?)" "p.(Pro378Arg)" "" "0000558204" "00003192" "30" "833" "0" "833" "0" "c.833C>T" "r.(?)" "p.(Pro278Leu)" "" "0000615964" "00003192" "50" "1244" "0" "1244" "0" "c.1244G>A" "r.(?)" "p.(Arg415His)" "" "0000623452" "00003192" "50" "5003" "0" "5003" "0" "c.*2414C>T" "r.(=)" "p.(=)" "" "0000657837" "00003192" "30" "2186" "4" "2186" "4" "c.2186+4C>T" "r.spl?" "p.?" "" "0000680560" "00003192" "50" "2243" "0" "2243" "0" "c.2243C>T" "r.(?)" "p.(Pro748Leu)" "" "0000692063" "00003192" "50" "2197" "0" "2197" "0" "c.2197G>T" "r.(?)" "p.(Glu733Ter)" "" "0000725765" "00003192" "50" "6014" "0" "6014" "0" "c.*3425G>A" "r.(=)" "p.(=)" "" "0000807379" "00003192" "50" "5163" "0" "5163" "0" "c.*2574C>G" "r.(=)" "p.(=)" "" "0000854513" "00003192" "50" "833" "0" "833" "0" "c.833C>T" "r.(?)" "p.(Pro278Leu)" "" "0000933454" "00003192" "90" "2395" "0" "2395" "0" "c.2395dup" "r.(?)" "p.(Val799GlyfsTer4)" "" "0000933455" "00003192" "90" "2395" "0" "2395" "0" "c.2395dup" "r.(?)" "p.(Val799GlyfsTer4)" "" "0000933456" "00003192" "90" "2167" "0" "2167" "0" "c.2167C>T" "r.(?)" "p.(Arg723Ter)" "" "0000933457" "00003192" "90" "2413" "0" "2413" "0" "c.2413C>T" "r.(?)" "p.(Arg805Ter)" "" "0000933458" "00003192" "90" "2167" "0" "2167" "0" "c.2167C>T" "r.(?)" "p.(Arg723Ter)" "" "0000933459" "00003192" "90" "2167" "0" "2167" "0" "c.2167C>T" "r.(?)" "p.(Arg723Ter)" "" "0000933460" "00003192" "90" "2167" "0" "2167" "0" "c.2167C>T" "r.(?)" "p.(Arg723Ter)" "" "0000950653" "00003192" "50" "4298" "0" "4298" "0" "c.*1709C>T" "r.(=)" "p.(=)" "" "0000981875" "00003192" "30" "3981" "0" "3981" "0" "c.*1392G>T" "r.(=)" "p.(=)" "" "0000981876" "00003192" "50" "1030" "0" "1030" "0" "c.1030C>T" "r.(?)" "p.(Pro344Ser)" "" "0000981906" "00003192" "30" "878" "8" "878" "8" "c.878+8C>T" "r.(=)" "p.(=)" "" "0001002299" "00003192" "50" "7372" "0" "7372" "0" "c.*4783C>T" "r.(=)" "p.(=)" "" "0001002301" "00003192" "30" "5614" "0" "5614" "0" "c.*3025C>G" "r.(=)" "p.(=)" "" "0001002302" "00003192" "30" "2410" "0" "2410" "0" "c.2410G>A" "r.(?)" "p.(Ala804Thr)" "" "0001002303" "00003192" "30" "2129" "0" "2129" "0" "c.2129C>T" "r.(?)" "p.(Ala710Val)" "" "0001002305" "00003192" "30" "1602" "0" "1602" "0" "c.1602C>A" "r.(?)" "p.(His534Gln)" "" "0001002306" "00003192" "50" "1417" "0" "1417" "0" "c.1417G>A" "r.(?)" "p.(Glu473Lys)" "" "0001002307" "00003192" "50" "1244" "0" "1244" "0" "c.1244G>A" "r.(?)" "p.(Arg415His)" "" "0001002308" "00003192" "30" "1145" "0" "1145" "0" "c.1145G>A" "r.(?)" "p.(Arg382His)" "" "0001002309" "00003192" "50" "1074" "0" "1074" "0" "c.1074G>C" "r.(?)" "p.(Glu358Asp)" "" "0001002320" "00003192" "50" "1007" "0" "1007" "0" "c.1007C>T" "r.(?)" "p.(Thr336Met)" "" "0001002360" "00003192" "50" "871" "0" "871" "0" "c.871G>C" "r.(?)" "p.(Glu291Gln)" "" "0001002361" "00003192" "30" "644" "0" "644" "0" "c.644C>T" "r.(?)" "p.(Ser215Leu)" "" "0001002362" "00003192" "30" "299" "0" "299" "0" "c.299G>A" "r.(?)" "p.(Ser100Asn)" "" "0001002363" "00003192" "50" "187" "0" "187" "0" "c.187C>T" "r.(?)" "p.(Arg63Cys)" "" "0001041091" "00003192" "30" "6180" "0" "6180" "0" "c.*3591G>A" "r.(=)" "p.(=)" "" "0001041092" "00003192" "50" "2462" "0" "2462" "0" "c.2462G>C" "r.(?)" "p.(Arg821Thr)" "" "0001041093" "00003192" "50" "1205" "0" "1205" "0" "c.1205C>T" "r.(?)" "p.(Thr402Met)" "" "0001055285" "00003192" "50" "2234" "0" "2234" "0" "c.2234C>T" "r.(?)" "p.(Ala745Val)" "" "0001055286" "00003192" "50" "1378" "0" "1378" "0" "c.1378C>T" "r.(?)" "p.(Arg460Trp)" "" "0001066319" "00003192" "50" "5117" "0" "5117" "0" "c.*2528C>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 30 "{{screeningid}}" "{{variantid}}" "0000090492" "0000148621" "0000090493" "0000148622" "0000090495" "0000148624" "0000090496" "0000148625" "0000090497" "0000148626" "0000090498" "0000148627" "0000090499" "0000148628" "0000090501" "0000148630" "0000090502" "0000148631" "0000090503" "0000148632" "0000090504" "0000148633" "0000090505" "0000148634" "0000090506" "0000148635" "0000090507" "0000148636" "0000090508" "0000148637" "0000090509" "0000148638" "0000090510" "0000148639" "0000090511" "0000148640" "0000090512" "0000148641" "0000090513" "0000148642" "0000090514" "0000148643" "0000090515" "0000148644" "0000091025" "0000149154" "0000437967" "0000933454" "0000437968" "0000933455" "0000437969" "0000933456" "0000437970" "0000933457" "0000437971" "0000933458" "0000437972" "0000933459" "0000437973" "0000933460"