### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DACT1) # 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}}" "DACT1" "dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)" "14" "q22.3" "unknown" "NG_032025.1" "UD_136086497791" "" "https://www.LOVD.nl/DACT1" "" "1" "17748" "51339" "607861" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/DACT1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2012-01-18 00:00:00" "00006" "2017-06-29 16:08:14" "00000" "2024-08-28 13:16:32" ## 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}}" "00006076" "DACT1" "transcript variant 1" "002" "NM_016651.5" "" "NP_057735.2" "" "" "" "-164" "3698" "2511" "59104757" "59115039" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00719" "TBS" "Townes-Brocks syndrome (TBS)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00860" "NTD" "neural tube defects, susceptibility to (NTD)" "AD" "182940" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05297" "TBS2" "Townes-Brocks syndrome, type 2 (TBS-2)" "AD" "617466" "" "" "" "00006" "2017-06-29 16:17:39" "00006" "2021-12-10 21:51:32" "05342" "CAKUT" "kidney and urinary tract, anomalies, congenital (CAKUT)" "" "" "" "" "" "00006" "2017-11-10 19:49:59" "00006" "2017-11-10 19:51:20" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "DACT1" "00719" "DACT1" "05297" ## Individuals ## Do not remove or alter this header ## ## Count = 15 "{{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}}" "00092289" "" "" "" "5" "" "01857" "{PMID:Web 2017:28054444}, {DOI:Web 2017:10.1002/humu.23171}" "3-generation family, 5 affecteds (4F, M)" "F;M" "no" "United States" "" "0" "" "" "" "28054444-Fam" "00106647" "" "" "" "1" "" "02069" "" "" "F" "" "China" "" "0" "" "" "Chinese" "" "00106648" "" "" "" "1" "" "02069" "" "" "F" "" "China" "" "0" "" "" "Chinese" "" "00106649" "" "" "" "1" "" "02069" "" "" "F" "" "China" "" "0" "" "" "Chinese" "" "00106650" "" "" "" "1" "" "02069" "" "" "F" "" "China" "" "0" "" "" "Chinese" "" "00106651" "" "" "" "1" "" "02069" "" "" "" "" "China" "" "0" "" "" "Chinese" "" "00303418" "" "" "" "1" "" "00006" "Christians ESHG2020 C14.2" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "M" "" "" "" "0" "" "" "" "PatV005" "00303419" "" "" "" "1" "" "00006" "Christians ESHG2020 C14.2" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "M" "" "" "" "0" "" "" "" "PatC003" "00303420" "" "" "" "1" "" "00006" "Christians ESHG2020 C14.2" "2-generation family, 2 affected (2M), unaffected heterozygous carrier mother" "M" "" "" "" "0" "" "" "" "PatT004" "00303421" "" "" "" "1" "" "00006" "Christians ESHG2020 C14.2" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "F" "" "" "" "0" "" "" "" "PatN032" "00303422" "" "" "" "2" "" "00006" "Christians ESHG2020 C14.2" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "" "" "0" "" "" "" "PatN062" "00303423" "" "" "" "1" "" "00006" "Christians ESHG2020 C14.2" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "F" "" "" "" "0" "" "" "" "PatH452" "00303424" "" "" "" "1" "" "00006" "Christians ESHG2020 C14.2" "2-generation family, 1 affected, unaffected heterozygous carrier mother and sister" "F" "" "" "" "0" "" "" "" "PatH402" "00303425" "" "" "" "1" "" "00006" "Lahrouchi ESHG2020 C05.3" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "M" "" "" "" "0" "" "" "" "PatB036" "00316169" "" "" "" "1" "" "00006" "{PMID:Heidet 2017:28566479}" "fetus" "" "" "France" "" "0" "" "" "" "K65" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00092289" "00198" "00106647" "00860" "00106648" "00860" "00106649" "00860" "00106650" "00860" "00106651" "00860" "00303418" "00198" "00303419" "00198" "00303420" "00198" "00303421" "00198" "00303422" "00198" "00303423" "00198" "00303424" "00198" "00303425" "00198" "00316169" "05342" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00719, 00860, 05297, 05342 ## Count = 15 "{{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}}" "0000083942" "00198" "00092289" "00006" "Familial, autosomal dominant" "" "see paper; ..., features overlapping\r\nTownes–Brocks syndrome, imperforate anus, structural renal abnormalities, genitourinary\r\nanomalies, ear anomalies" "" "" "" "" "" "" "" "" "" "" "" "0000084454" "00860" "00106647" "02069" "Isolated (sporadic)" "" "Neural tube defects; Anencephalus, occipital cervical thoracic lumbal spinal bifida aperta, left eye exophthalmos, lung lobe deformity" "" "" "" "" "" "" "" "" "" "" "" "0000084455" "00860" "00106648" "02069" "Isolated (sporadic)" "" "Neural tube defects; Complete anencephalus, whole spinal bifida aperta; absence of neck; thorax\r\ndeformity; both upper limb overlength; lung lobe deformity (both lungs deformity of having one lobe each), atelectasis" "" "" "" "" "" "" "" "" "" "" "" "0000084456" "00860" "00106649" "02069" "Isolated (sporadic)" "" "Neural tube defects; Anencephalus, cervial occipital spina bifida\r\naperta; atrial septal defect; left lung lobe deformity; bilateral adrenal dysplasia; atelectasis" "" "" "" "" "" "" "" "" "" "" "" "0000084457" "00860" "00106650" "02069" "Isolated (sporadic)" "" "Neural tube defects" "" "" "" "" "" "" "" "" "" "" "" "0000084458" "00860" "00106651" "02069" "Isolated (sporadic)" "" "Neural tube defects" "" "" "" "" "" "" "" "" "" "" "" "0000230495" "00198" "00303418" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Townes-Brocks syndrome like" "" "0000230496" "00198" "00303419" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Townes-Brocks syndrome like" "" "0000230497" "00198" "00303420" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Townes-Brocks syndrome like" "" "0000230498" "00198" "00303421" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Townes-Brocks syndrome like" "" "0000230499" "00198" "00303422" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Townes-Brocks syndrome like" "" "0000230500" "00198" "00303423" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Townes-Brocks syndrome like" "" "0000230501" "00198" "00303424" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Townes-Brocks syndrome like" "" "0000230502" "00198" "00303425" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Townes-Brocks syndrome like" "" "0000239916" "05342" "00316169" "00006" "Unknown" "" "bilateral multicystic dysplasia" "" "" "" "" "" "" "" "" "" "bilateral multicystic dysplasia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000092429" "00092289" "1" "01857" "01857" "2016-12-21 21:04:56" "00006" "2017-06-29 16:14:39" "SEQ-NG-I" "DNA" "" "WES" "0000107118" "00106647" "0" "02069" "02069" "2012-01-29 02:09:42" "00004" "2012-01-30 08:42:48" "SEQ" "DNA" "" "" "0000107119" "00106648" "0" "02069" "02069" "2012-01-29 02:13:49" "" "" "SEQ" "DNA" "" "" "0000107120" "00106649" "0" "02069" "02069" "2012-01-29 02:16:50" "" "" "SEQ" "DNA" "" "" "0000107121" "00106650" "0" "02069" "02069" "2012-01-29 02:18:50" "" "" "SEQ" "DNA" "" "" "0000107122" "00106651" "0" "02069" "02069" "2012-01-29 02:20:33" "" "" "SEQ" "DNA" "" "" "0000304544" "00303418" "1" "00006" "00006" "2020-06-12 13:11:25" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304545" "00303419" "1" "00006" "00006" "2020-06-12 13:11:25" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304546" "00303420" "1" "00006" "00006" "2020-06-12 13:11:25" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304547" "00303421" "1" "00006" "00006" "2020-06-12 13:11:25" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304548" "00303422" "1" "00006" "00006" "2020-06-12 13:11:25" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304549" "00303423" "1" "00006" "00006" "2020-06-12 13:11:25" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304550" "00303424" "1" "00006" "00006" "2020-06-12 13:11:25" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304551" "00303425" "1" "00006" "00006" "2020-06-12 13:11:25" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317351" "00316169" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{geneid}}" "0000092429" "DACT1" "0000107118" "DACT1" "0000107119" "DACT1" "0000107120" "DACT1" "0000107121" "DACT1" "0000107122" "DACT1" "0000304544" "DACT1" "0000304545" "DACT1" "0000304546" "DACT1" "0000304547" "DACT1" "0000304548" "DACT1" "0000304549" "DACT1" "0000304550" "DACT1" "0000304551" "DACT1" "0000317351" "DACT1" "0000317351" "LAMC1" ## 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 = 38 "{{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}}" "0000150753" "1" "90" "14" "59112597" "59112597" "subst" "4.06474E-6" "01857" "DACT1_000006" "g.59112597G>A" "" "{PMID:Web 2017:28054444}, {DOI:Web 2017:10.1002/humu.23171}" "" "" "" "Germline" "yes" "" "0" "" "" "g.58645879G>A" "" "pathogenic" "" "0000172873" "1" "50" "14" "59105053" "59105053" "subst" "0.000597729" "02069" "DACT1_000001" "g.59105053C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58638335C>T" "" "VUS" "" "0000172874" "1" "50" "14" "59107533" "59107533" "subst" "0" "02069" "DACT1_000002" "g.59107533A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58640815A>G" "" "VUS" "" "0000172875" "1" "70" "14" "59112409" "59112409" "subst" "0" "02069" "DACT1_000003" "g.59112409C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58645691C>A" "" "likely pathogenic" "" "0000172876" "1" "70" "14" "59113446" "59113446" "subst" "0" "02069" "DACT1_000004" "g.59113446T>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58646728T>G" "" "likely pathogenic" "" "0000172877" "1" "70" "14" "59113764" "59113764" "subst" "4.06055E-6" "02069" "DACT1_000005" "g.59113764C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58647046C>A" "" "likely pathogenic" "" "0000267269" "0" "10" "14" "59112732" "59112732" "subst" "0.278592" "02325" "DACT1_000008" "g.59112732C>T" "" "" "" "DACT1(NM_016651.6):c.1391C>T (p.A464V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58646014C>T" "" "benign" "" "0000267270" "0" "10" "14" "59105188" "59105188" "subst" "0.530043" "02325" "DACT1_000007" "g.59105188C>T" "" "" "" "DACT1(NM_016651.6):c.268C>T (p.L90=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58638470C>T" "" "benign" "" "0000343571" "0" "50" "14" "59107456" "59107456" "subst" "0" "02327" "DACT1_000009" "g.59107456C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58640738C>A" "" "VUS" "" "0000552739" "0" "30" "14" "59112874" "59112874" "subst" "3.67548E-5" "01943" "DACT1_000010" "g.59112874G>A" "" "" "" "DACT1(NM_016651.5):c.1533G>A (p.Q511=), DACT1(NM_016651.6):c.1533G>A (p.Q511=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58646156G>A" "" "likely benign" "" "0000552740" "0" "30" "14" "59113087" "59113087" "subst" "0" "01943" "DACT1_000011" "g.59113087C>T" "" "" "" "DACT1(NM_016651.5):c.1746C>T (p.S582=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58646369C>T" "" "likely benign" "" "0000552741" "0" "30" "14" "59113231" "59113231" "subst" "0.000473153" "01943" "DACT1_000012" "g.59113231G>T" "" "" "" "DACT1(NM_016651.5):c.1890G>T (p.K630N), DACT1(NM_016651.6):c.1890G>T (p.K630N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58646513G>T" "" "likely benign" "" "0000552742" "0" "30" "14" "59113390" "59113390" "subst" "8.32584E-6" "01943" "DACT1_000013" "g.59113390C>T" "" "" "" "DACT1(NM_016651.5):c.2049C>T (p.A683=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58646672C>T" "" "likely benign" "" "0000668010" "21" "70" "14" "59112441" "59112441" "subst" "0.000341164" "00006" "DACT1_000014" "g.59112441C>A" "" "Christians ESHG2020 C14.2" "" "" "" "Germline" "" "" "0" "" "" "g.58645723C>A" "" "likely pathogenic" "" "0000668011" "21" "70" "14" "59113044" "59113044" "subst" "0" "00006" "DACT1_000015" "g.59113044G>A" "" "Christians ESHG2020 C14.2" "" "" "" "Germline" "" "" "0" "" "" "g.58646326G>A" "" "likely pathogenic" "" "0000668012" "21" "70" "14" "59113112" "59113112" "subst" "4.78045E-5" "00006" "DACT1_000016" "g.59113112C>T" "" "Christians ESHG2020 C14.2" "" "" "" "Germline" "" "" "0" "" "" "g.58646394C>T" "" "likely pathogenic" "" "0000668013" "21" "70" "14" "59113809" "59113809" "subst" "0" "00006" "DACT1_000017" "g.59113809T>G" "" "Christians ESHG2020 C14.2" "" "" "" "Germline" "" "" "0" "" "" "g.58647091T>G" "" "likely pathogenic" "" "0000668014" "20" "70" "14" "59112441" "59112441" "subst" "0.000341164" "00006" "DACT1_000014" "g.59112441C>A" "" "Christians ESHG2020 C14.2" "" "" "" "Germline" "" "" "0" "" "" "g.58645723C>A" "" "likely pathogenic" "" "0000668015" "21" "70" "14" "59113231" "59113231" "subst" "0.000473153" "00006" "DACT1_000012" "g.59113231G>T" "" "Christians ESHG2020 C14.2" "" "" "" "Germline" "" "" "0" "" "" "g.58646513G>T" "" "likely pathogenic" "" "0000668016" "21" "70" "14" "59113272" "59113272" "subst" "7.62776E-5" "00006" "DACT1_000018" "g.59113272G>A" "" "Christians ESHG2020 C14.2" "" "" "" "Germline" "" "" "0" "" "" "g.58646554G>A" "" "likely pathogenic" "" "0000668017" "21" "70" "14" "59113346" "59113346" "subst" "0" "00006" "DACT1_000019" "g.59113346C>G" "" "Christians ESHG2020 C14.2" "" "" "" "Germline" "" "" "0" "" "" "g.58646628C>G" "" "likely pathogenic" "" "0000679999" "0" "30" "14" "59105157" "59105157" "subst" "0.00134853" "02326" "DACT1_000020" "g.59105157G>C" "" "" "" "DACT1(NM_016651.6):c.237G>C (p.A79=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691681" "0" "30" "14" "59112645" "59112645" "subst" "0.000984412" "02326" "DACT1_000021" "g.59112645T>C" "" "" "" "DACT1(NM_016651.6):c.1304T>C (p.L435P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000699942" "0" "50" "14" "0" "0" "" "0" "00006" "SERPINA1_000009" "g.?" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000891824" "0" "30" "14" "59107595" "59107595" "subst" "0.00102765" "02326" "DACT1_000022" "g.59107595T>G" "" "" "" "DACT1(NM_016651.6):c.478+9T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891825" "0" "10" "14" "59112221" "59112221" "subst" "0.0022252" "02326" "DACT1_000023" "g.59112221G>A" "" "" "" "DACT1(NM_016651.6):c.880G>A (p.E294K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000891826" "0" "30" "14" "59112874" "59112874" "subst" "3.67548E-5" "02326" "DACT1_000010" "g.59112874G>A" "" "" "" "DACT1(NM_016651.5):c.1533G>A (p.Q511=), DACT1(NM_016651.6):c.1533G>A (p.Q511=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891827" "0" "30" "14" "59113313" "59113313" "subst" "0.000442021" "02326" "DACT1_000024" "g.59113313C>T" "" "" "" "DACT1(NM_016651.6):c.1972C>T (p.H658Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914203" "0" "30" "14" "59113231" "59113231" "subst" "0.000473153" "02326" "DACT1_000012" "g.59113231G>T" "" "" "" "DACT1(NM_016651.5):c.1890G>T (p.K630N), DACT1(NM_016651.6):c.1890G>T (p.K630N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950257" "0" "50" "14" "59112414" "59112414" "subst" "0" "02329" "DACT1_000025" "g.59112414C>T" "" "" "" "DACT1(NM_016651.6):c.1073C>T (p.P358L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950258" "0" "30" "14" "59112952" "59112952" "subst" "0.00347999" "02326" "DACT1_000026" "g.59112952C>G" "" "" "" "DACT1(NM_016651.6):c.1611C>G (p.A537=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950259" "0" "30" "14" "59113348" "59113348" "subst" "0.00327271" "02326" "DACT1_000027" "g.59113348T>G" "" "" "" "DACT1(NM_016651.6):c.2007T>G (p.P669=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980942" "0" "30" "14" "59112382" "59112382" "subst" "0.000589258" "01804" "DACT1_000028" "g.59112382G>C" "" "" "" "DACT1(NM_001079520.2):c.930G>C (p.(Gln310His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001050" "0" "30" "14" "59105186" "59105186" "subst" "0" "01804" "DACT1_000029" "g.59105186T>C" "" "" "" "DACT1(NM_001079520.1):c.266T>C (p.(Leu89Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001051" "0" "30" "14" "59112592" "59112603" "dup" "0" "01804" "DACT1_000030" "g.59112592_59112603dup" "" "" "" "DACT1(NM_001079520.1):c.1140_1151dupGCAGTGGTCGAA (p.(Lys384_Glu385insGlnTrpSerLys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001052" "0" "50" "14" "59112828" "59112828" "subst" "0" "01804" "DACT1_000031" "g.59112828C>T" "" "" "" "DACT1(NM_001079520.1):c.1376C>T (p.(Pro459Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001053" "0" "50" "14" "59113584" "59113584" "subst" "4.06068E-6" "01804" "DACT1_000032" "g.59113584A>G" "" "" "" "DACT1(NM_001079520.1):c.2132A>G (p.(Asn711Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001054" "0" "30" "14" "59113803" "59113805" "del" "0" "01804" "DACT1_000033" "g.59113803_59113805del" "" "" "" "DACT1(NM_001079520.1):c.2351_2353delAGA (p.(Lys784del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes DACT1 ## Count = 38 "{{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}}" "0000150753" "00006076" "90" "1256" "0" "1256" "0" "c.1256G>A" "r.(1256g.a)" "p.(Trp419*)" "4" "0000172873" "00006076" "50" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "1" "0000172874" "00006076" "50" "425" "0" "425" "0" "c.425A>G" "r.(?)" "p.(Asp142Gly)" "2" "0000172875" "00006076" "70" "1068" "0" "1068" "0" "c.1068C>A" "r.(?)" "p.(Asn356Lys)" "4" "0000172876" "00006076" "70" "2105" "0" "2105" "0" "c.2105T>G" "r.(?)" "p.(Val702Gly)" "4" "0000172877" "00006076" "70" "2423" "0" "2423" "0" "c.2423C>A" "r.(?)" "p.(Thr808Asn)" "4" "0000267269" "00006076" "10" "1391" "0" "1391" "0" "c.1391C>T" "r.(?)" "p.(Ala464Val)" "" "0000267270" "00006076" "10" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Leu90=)" "" "0000343571" "00006076" "50" "348" "0" "348" "0" "c.348C>A" "r.(?)" "p.(Asn116Lys)" "" "0000552739" "00006076" "30" "1533" "0" "1533" "0" "c.1533G>A" "r.(?)" "p.(Gln511=)" "" "0000552740" "00006076" "30" "1746" "0" "1746" "0" "c.1746C>T" "r.(?)" "p.(Ser582=)" "" "0000552741" "00006076" "30" "1890" "0" "1890" "0" "c.1890G>T" "r.(?)" "p.(Lys630Asn)" "" "0000552742" "00006076" "30" "2049" "0" "2049" "0" "c.2049C>T" "r.(?)" "p.(Ala683=)" "" "0000668010" "00006076" "70" "1100" "0" "1100" "0" "c.1100C>A" "r.(?)" "p.(Thr367Lys)" "" "0000668011" "00006076" "70" "1703" "0" "1703" "0" "c.1703G>A" "r.(?)" "p.(Arg568Lys)" "" "0000668012" "00006076" "70" "1771" "0" "1771" "0" "c.1771C>T" "r.(?)" "p.(Leu591Phe)" "" "0000668013" "00006076" "70" "2468" "0" "2468" "0" "c.2468T>G" "r.(?)" "p.(Leu823Arg)" "" "0000668014" "00006076" "70" "1100" "0" "1100" "0" "c.1100C>A" "r.(?)" "p.(Thr367Lys)" "" "0000668015" "00006076" "70" "1890" "0" "1890" "0" "c.1890G>T" "r.(?)" "p.(Lys630Asn)" "" "0000668016" "00006076" "70" "1931" "0" "1931" "0" "c.1931G>A" "r.(?)" "p.(Gly644Asp)" "" "0000668017" "00006076" "70" "2005" "0" "2005" "0" "c.2005C>G" "r.(?)" "p.(Pro669Ala)" "" "0000679999" "00006076" "30" "237" "0" "237" "0" "c.237G>C" "r.(?)" "p.(Ala79=)" "" "0000691681" "00006076" "30" "1304" "0" "1304" "0" "c.1304T>C" "r.(?)" "p.(Leu435Pro)" "" "0000699942" "00006076" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Glu57Lys)" "" "0000891824" "00006076" "30" "478" "9" "478" "9" "c.478+9T>G" "r.(=)" "p.(=)" "" "0000891825" "00006076" "10" "880" "0" "880" "0" "c.880G>A" "r.(?)" "p.(Glu294Lys)" "" "0000891826" "00006076" "30" "1533" "0" "1533" "0" "c.1533G>A" "r.(?)" "p.(Gln511=)" "" "0000891827" "00006076" "30" "1972" "0" "1972" "0" "c.1972C>T" "r.(?)" "p.(His658Tyr)" "" "0000914203" "00006076" "30" "1890" "0" "1890" "0" "c.1890G>T" "r.(?)" "p.(Lys630Asn)" "" "0000950257" "00006076" "50" "1073" "0" "1073" "0" "c.1073C>T" "r.(?)" "p.(Pro358Leu)" "" "0000950258" "00006076" "30" "1611" "0" "1611" "0" "c.1611C>G" "r.(?)" "p.(=)" "" "0000950259" "00006076" "30" "2007" "0" "2007" "0" "c.2007T>G" "r.(?)" "p.(=)" "" "0000980942" "00006076" "30" "1041" "0" "1041" "0" "c.1041G>C" "r.(?)" "p.(Gln347His)" "" "0001001050" "00006076" "30" "266" "0" "266" "0" "c.266T>C" "r.(?)" "p.(Leu89Pro)" "" "0001001051" "00006076" "30" "1251" "0" "1262" "0" "c.1251_1262dup" "r.(?)" "p.(Gln418_Lys421dup)" "" "0001001052" "00006076" "50" "1487" "0" "1487" "0" "c.1487C>T" "r.(?)" "p.(Pro496Leu)" "" "0001001053" "00006076" "50" "2243" "0" "2243" "0" "c.2243A>G" "r.(?)" "p.(Asn748Ser)" "" "0001001054" "00006076" "30" "2462" "0" "2464" "0" "c.2462_2464del" "r.(?)" "p.(Lys821del)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000092429" "0000150753" "0000107118" "0000172873" "0000107119" "0000172874" "0000107120" "0000172875" "0000107121" "0000172876" "0000107122" "0000172877" "0000304544" "0000668010" "0000304545" "0000668011" "0000304546" "0000668012" "0000304547" "0000668013" "0000304548" "0000668014" "0000304549" "0000668015" "0000304550" "0000668016" "0000304551" "0000668017" "0000317351" "0000699942"