### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SMAD6) # 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}}" "SMAD6" "SMAD family member 6" "15" "q21-q22" "unknown" "NG_012244.2" "UD_132084414103" "" "https://www.LOVD.nl/SMAD6" "Globin Gene Server databases \r\nHbVar " "1" "6772" "4091" "602931" "1" "1" "1" "1" "This gene is part of the Globin Gene Server databases.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/SMAD6_codingDNA.html" "1" "" "This gene is part of the Globin Gene Server databases." "-1" "" "-1" "00001" "2009-02-18 00:00:00" "00006" "2019-11-01 10:34:45" "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}}" "00019410" "SMAD6" "transcript variant 1" "002" "NM_005585.4" "" "NP_005576.3" "" "" "" "-923" "1956" "1491" "66994674" "67074338" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{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" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00152" "CHD" "heart disease, congenital (CHD)" "" "" "" "" "" "00008" "2013-06-19 09:27:11" "00006" "2015-01-23 22:14:45" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00291" "ADHD" "attention deficit-hyperactivity disorder (ADHD)" "AD" "143465" "" "" "" "00006" "2013-12-20 10:47:26" "00006" "2021-12-10 21:51:32" "03737" "AOVD2" "aortic valve disease, type 2 (AOVD-2)" "AD" "614823" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04327" "CRS" "craniosynostosis (CRS)" "" "" "" "" "" "00006" "2015-09-12 20:59:03" "" "" "05155" "OPLL" "ossification, posterior longitudinal ligament spine (OPLL)" "" "" "" "" "" "00006" "2016-04-14 16:02:41" "" "" "05690" "CRS7" "craniosynostosis, susceptibility to, type 7 (CRS7)" "AD" "617439" "" "" "" "00006" "2020-02-08 13:48:44" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SMAD6" "03737" "SMAD6" "05690" ## Individuals ## Do not remove or alter this header ## ## Count = 58 "{{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}}" "00019896" "" "" "" "1" "" "00705" "{PMID:Gilissen 2014:24896178}" "" "?" "?" "" "" "0" "" "" "" "" "00081433" "" "" "" "1" "" "01783" "" "" "" "" "China" "" "0" "" "" "Han" "" "00081435" "" "" "" "1" "" "01783" "" "" "" "" "China" "" "0" "" "" "Han" "" "00267094" "" "" "" "1" "" "03464" "{PMID:Sebastiani 2008:17918249}" "associated analtysis fetal hemoglobin (HbF) level" "" "" "" "" "0" "" "" "" "" "00267095" "" "" "" "1" "" "03464" "HTan direct submission" "" "" "" "" "" "0" "" "" "" "" "00267096" "" "" "" "1" "" "03464" "HTan direct submission" "" "" "" "" "" "0" "" "" "" "" "00267097" "" "" "" "1" "" "03464" "HTan direct submission" "" "" "" "" "" "0" "" "" "" "" "00285891" "" "" "" "2" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "3-generation family, 1 affected, unaffected heterozygous carrier mother (de novo)" "M" "" "" "" "0" "" "" "" "SAGMET101PatIII1" "00285892" "" "" "" "3" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "2-generation family, 2 affected, unaffected heterozygous carrier father" "M" "" "" "" "0" "" "" "" "SAGMET104-1PatII1" "00285893" "" "" "" "3" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "3-generation family, 2 affected, unaffected heterozygous carrier sister" "F" "" "" "" "0" "" "" "" "SAGMET100-1PatII1" "00285894" "" "" "" "2" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "2-generation family, 2 affected, unaffected heterozygous carrier father" "M" "" "" "" "0" "" "" "" "SAG2220-1PatII1" "00285895" "" "" "" "3" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "3-generation family, 1 affected, unaffected heterozygous carrier father/grandmother" "F" "" "" "" "0" "" "" "" "SAG210-1PatIII1" "00285896" "" "" "" "1" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "2-generation family, 2 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "SAG158-1PatII1" "00285897" "" "" "" "2" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "M" "" "" "" "0" "" "" "" "MET179-1PatII1" "00285898" "" "" "" "3" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "2-generation family, 1 affected, unaffected heterozygous carrier father/sister" "F" "" "" "" "0" "" "" "" "MET127-1PatII1" "00285899" "" "" "" "2" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "2-generation family, 1 affected, unaffected heterozygous carrier father/sister" "M" "" "" "" "0" "" "" "" "MET148-1PatII1" "00285900" "" "" "" "1" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "MET153-1PatII1" "00285901" "" "" "" "3" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "2-generation family, affected twin pair, unaffected heterozygous carrier father" "M" "" "" "" "0" "" "" "" "MET154-1PatII1/2" "00285902" "" "" "" "2" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "2-generation family, affected twin pair, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "MET111-1PatII1/2" "00285903" "" "" "" "3" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "3-generation family, 1 affected, unaffected heterozygous carrier father/grandfather" "M" "" "" "" "0" "" "" "" "MET115-1PatIII2" "00285904" "" "" "" "1" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "" "" "" "0" "" "" "" "SAG-PROBAND3" "00285905" "" "" "" "1" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "" "" "" "0" "" "" "" "SAGMET107-1P" "00285906" "" "" "00285891" "1" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "unaffected carrier mother" "F" "" "" "" "0" "" "" "" "SAGMET101PatII1" "00285907" "" "" "00285892" "1" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "unaffected carrier father" "M" "" "" "" "0" "" "" "" "SAGMET104-1PatI2" "00285908" "" "" "00285892" "1" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "brother" "M" "" "" "" "0" "" "" "" "SAGMET104-1PatII2" "00285909" "" "" "00285893" "1" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "unaffected carrier sister" "F" "" "" "" "0" "" "" "" "SAGMET100-1PatII2" "00285910" "" "" "00285893" "1" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "nephew" "M" "" "" "" "0" "" "" "" "SAGMET100-1PatIII1" "00285911" "" "" "00285894" "1" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "unaffected carrier father" "M" "" "" "" "0" "" "" "" "SAG2220-1PatI2" "00285912" "" "" "00285895" "1" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "unaffected carrier father" "M" "" "" "" "0" "" "" "" "SAG210-1PatII2" "00285913" "" "" "00285895" "1" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "unaffected carrier grandmother" "F" "" "" "" "0" "" "" "" "SAG210-1PatI1" "00285914" "" "" "00285897" "1" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "unaffected carrier mother" "F" "" "" "" "0" "" "" "" "MET179-1PatI1" "00285915" "" "" "00285898" "1" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "unaffected carrier father" "M" "" "" "" "0" "" "" "" "MET127-1PatI2" "00285916" "" "" "00285898" "1" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "unaffected carrier sister" "F" "" "" "" "0" "" "" "" "MET127-1PatII2" "00285917" "" "" "00285899" "1" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "unaffected carrier father" "M" "" "" "" "0" "" "" "" "MET148-1PatI2" "00285918" "" "" "00285901" "1" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "unaffected carrier father" "M" "" "" "" "0" "" "" "" "MET154-1PatI1" "00285919" "" "" "00285903" "1" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "unaffected carrier father" "M" "" "" "" "0" "" "" "" "MET115-1PatII2" "00285920" "" "" "00285903" "1" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "unaffected carrier grandfather" "M" "" "" "" "0" "" "" "" "MET115-1PatI2" "00285921" "" "" "" "2" "" "00006" "{PMID:Timberlake 2017:28808027}, {PMID:Timberlake 2018:30038786}" "2-generation family, 1 affected, unaffected parents" "F" "no" "United States" "" "0" "" "" "" "Fam18PatII2/FamPat1" "00285922" "" "" "" "3" "" "00006" "{PMID:Timberlake 2017:28808027}" "2-generation family, 1 affected" "F" "" "" "" "0" "" "" "" "Fam14PatI1" "00285923" "" "" "00285922" "1" "" "00006" "{PMID:Timberlake 2017:28808027}" "" "M" "" "" "" "0" "" "" "" "Fam14PatII1" "00285924" "" "" "00285922" "1" "" "00006" "{PMID:Timberlake 2017:28808027}" "sister" "F" "" "" "" "0" "" "" "" "Fam14PatII2" "00285925" "" "" "" "4" "" "00006" "{PMID:Timberlake 2017:28808027}" "3-generation family, 1 affected" "F" "" "" "" "0" "" "" "" "Fam15PatI1" "00285926" "" "" "00285925" "1" "" "00006" "{PMID:Timberlake 2017:28808027}" "daughter" "F" "" "" "" "0" "" "" "" "Fam15PatII1" "00285927" "" "" "00285925" "1" "" "00006" "{PMID:Timberlake 2017:28808027}" "grandson" "M" "" "" "" "0" "" "" "" "Fam15PatIII1" "00285928" "" "" "00285925" "1" "" "00006" "{PMID:Timberlake 2017:28808027}" "granddaughter" "F" "" "" "" "0" "" "" "" "Fam15PatIII2" "00285929" "" "" "00285925" "1" "" "00006" "{PMID:Timberlake 2017:28808027}" "2-generation family, 1 affected" "M" "" "" "" "0" "" "" "" "Fam16PatII1" "00285930" "" "" "" "3" "" "00006" "{PMID:Timberlake 2017:28808027}" "3-generation family, 1 affected" "M" "" "" "" "0" "" "" "" "Fam17PatI2" "00285931" "" "" "00285930" "1" "" "00006" "{PMID:Timberlake 2017:28808027}" "son" "M" "" "" "" "0" "" "" "" "Fam17PatII2" "00285932" "" "" "00285930" "1" "" "00006" "{PMID:Timberlake 2017:28808027}" "grandson" "M" "" "" "" "0" "" "" "" "Fam17PatIII2" "00285933" "" "" "00285921" "1" "" "00006" "{PMID:Timberlake 2017:28808027}" "father" "M" "" "" "" "0" "" "" "" "Fam18PatI2" "00291280" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00453422" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00453720" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV090" "00453727" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV128" "00453728" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV336" "00453729" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV325" "00453740" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV914" "00466331" "" "" "" "1" "" "04866" "" "" "M" "?" "Hong Kong" "" "" "" "" "Chinese" "329C" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 58 "{{individualid}}" "{{diseaseid}}" "00019896" "00139" "00081433" "05155" "00081435" "05155" "00267094" "00198" "00267095" "00198" "00267096" "00198" "00267097" "00198" "00285891" "04327" "00285892" "04327" "00285893" "04327" "00285894" "04327" "00285895" "04327" "00285896" "04327" "00285897" "04327" "00285898" "04327" "00285899" "04327" "00285900" "04327" "00285901" "04327" "00285902" "04327" "00285903" "04327" "00285904" "04327" "00285905" "04327" "00285906" "00000" "00285907" "00000" "00285908" "04327" "00285909" "00000" "00285910" "04327" "00285911" "00000" "00285912" "00000" "00285913" "00000" "00285914" "00000" "00285915" "00000" "00285916" "00000" "00285917" "00000" "00285918" "00000" "00285919" "00000" "00285920" "00000" "00285921" "04327" "00285922" "00000" "00285923" "04327" "00285924" "00000" "00285925" "00000" "00285926" "00000" "00285927" "04327" "00285928" "00000" "00285929" "04327" "00285930" "00000" "00285931" "00000" "00285932" "04327" "00285933" "00000" "00291280" "00198" "00453422" "00198" "00453720" "00152" "00453727" "00152" "00453728" "00152" "00453729" "00152" "00453740" "00152" "00466331" "00291" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00152, 00198, 00291, 03737, 04327, 05155, 05690 ## Count = 48 "{{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}}" "0000020350" "00139" "00019896" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061035" "05155" "00081433" "01783" "Unknown" "" "racic ossification of the ligamentum flavum,\r\nlong regional at the thoracic spine" "" "" "" "" "" "" "" "" "" "" "" "0000061037" "05155" "00081435" "01783" "Unknown" "" "thoracic ossification of the ligamentum flavum;\r\nlong regional at the thoracic spine" "" "" "" "" "" "" "" "" "" "" "" "0000204981" "00198" "00267095" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "congenital cardiovascular malformation" "" "0000204982" "00198" "00267096" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "congenital cardiovascular malformation" "" "0000204983" "00198" "00267097" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "congenital cardiovascular malformation" "" "0000219749" "00000" "00285906" "00006" "Di-genic" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000219750" "00000" "00285907" "00006" "Di-genic" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000219752" "00000" "00285909" "00006" "Di-genic" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000219754" "00000" "00285911" "00006" "Di-genic" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000219755" "00000" "00285912" "00006" "Di-genic" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000219756" "00000" "00285913" "00006" "Di-genic" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000219757" "00000" "00285914" "00006" "Di-genic" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000219758" "00000" "00285915" "00006" "Di-genic" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000219759" "00000" "00285916" "00006" "Di-genic" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000219760" "00000" "00285917" "00006" "Di-genic" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000219761" "00000" "00285918" "00006" "Di-genic" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000219762" "00000" "00285919" "00006" "Di-genic" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000219763" "00000" "00285920" "00006" "Di-genic" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000219764" "04327" "00285891" "00006" "Di-genic" "" "sagittal craniosynostosis, metopic craniosynostosis" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000219765" "04327" "00285892" "00006" "Di-genic" "" "sagittal craniosynostosis" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000219766" "04327" "00285893" "00006" "Di-genic" "" "sagittal craniosynostosis, metopic craniosynostosis" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000219767" "04327" "00285894" "00006" "Di-genic" "" "sagittal craniosynostosis" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000219768" "04327" "00285895" "00006" "Di-genic" "" "sagittal craniosynostosis" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000219769" "04327" "00285896" "00006" "Di-genic" "" "sagittal craniosynostosis" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000219770" "04327" "00285897" "00006" "Di-genic" "" "metopic craniosynostosis" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000219771" "04327" "00285898" "00006" "Di-genic" "" "metopic craniosynostosis" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000219772" "04327" "00285899" "00006" "Di-genic" "" "metopic craniosynostosis" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000219773" "04327" "00285900" "00006" "Isolated (sporadic)" "" "metopic craniosynostosis" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000219774" "04327" "00285901" "00006" "Di-genic" "" "metopic craniosynostosis" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000219775" "04327" "00285902" "00006" "Di-genic" "" "metopic craniosynostosis" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000219776" "04327" "00285903" "00006" "Di-genic" "" "metopic craniosynostosis" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000219777" "04327" "00285904" "00006" "Di-genic" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000219778" "04327" "00285905" "00006" "Di-genic" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000219781" "04327" "00285908" "00006" "Di-genic" "" "sagittal craniosynostosis" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000219783" "04327" "00285910" "00006" "Di-genic" "" "metopic craniosynostosis" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000219794" "04327" "00285921" "00006" "Di-genic" "" "see paper; ..., sagittal craniosynostosis, coronal craniosynostosis, recurrence of CS within two months initial surgery requiring second operatio" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000219795" "04327" "00285923" "00006" "Di-genic" "" "metopic craniosynostosis" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000219796" "04327" "00285927" "00006" "Di-genic" "" "metopic craniosynostosis" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000219797" "04327" "00285929" "00006" "Di-genic" "" "metopic craniosynostosis" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000219798" "04327" "00285932" "00006" "Di-genic" "" "metopic craniosynostosis" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000342085" "00198" "00453422" "03544" "Isolated (sporadic)" "" "HP:0001647, HP:0001650, HP:0004942, HP:0001250" "" "" "" "" "" "" "" "" "AOVD2" "abnormality of the aorta" "" "0000342377" "00152" "00453720" "00006" "Unknown" "" "large root and ascending aneurysm" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000342384" "00152" "00453727" "00006" "Unknown" "" "ascending aneurysm" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000342385" "00152" "00453728" "00006" "Unknown" "" "unicommisural aortic valve" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000342386" "00152" "00453729" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000342397" "00152" "00453740" "00006" "Unknown" "" "aortic valve replacement, ascending aortic replacement, mitral valve replacement; mitral valve prolapse, giant anterior mitral leaflet" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000351696" "00291" "00466331" "04866" "Unknown" "6y-15y" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 58 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000019889" "00019896" "1" "00705" "00705" "2014-09-15 11:42:47" "00006" "2014-11-08 10:07:05" "SEQ" "DNA" "" "" "0000081568" "00081433" "1" "01783" "01783" "2016-10-14 03:41:30" "" "" "SEQ-NG" "DNA" "blood" "" "0000081574" "00081435" "1" "01783" "01783" "2016-10-14 03:55:23" "" "" "SEQ-NG" "DNA" "blood" "" "0000268223" "00267094" "1" "03464" "00006" "2019-11-01 13:08:02" "" "" "?" "DNA" "" "" "0000268224" "00267095" "1" "03464" "00006" "2019-11-01 13:08:02" "" "" "?" "DNA" "" "" "0000268225" "00267096" "1" "03464" "00006" "2019-11-01 13:08:02" "" "" "?" "DNA" "" "" "0000268226" "00267097" "1" "03464" "00006" "2019-11-01 13:08:02" "" "" "?" "DNA" "" "" "0000287048" "00285891" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000287049" "00285892" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000287050" "00285893" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000287051" "00285894" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000287052" "00285895" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000287053" "00285896" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000287054" "00285897" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000287055" "00285898" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000287056" "00285899" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000287057" "00285900" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000287058" "00285901" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000287059" "00285902" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000287060" "00285903" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000287061" "00285904" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ" "DNA" "" "" "0000287062" "00285905" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ" "DNA" "" "" "0000287063" "00285906" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ" "DNA" "" "" "0000287064" "00285907" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ" "DNA" "" "" "0000287065" "00285908" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000287066" "00285909" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ" "DNA" "" "" "0000287067" "00285910" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000287068" "00285911" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ" "DNA" "" "" "0000287069" "00285912" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ" "DNA" "" "" "0000287070" "00285913" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ" "DNA" "" "" "0000287071" "00285914" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ" "DNA" "" "" "0000287072" "00285915" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ" "DNA" "" "" "0000287073" "00285916" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ" "DNA" "" "" "0000287074" "00285917" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ" "DNA" "" "" "0000287075" "00285918" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ" "DNA" "" "" "0000287076" "00285919" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ" "DNA" "" "" "0000287077" "00285920" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ" "DNA" "" "" "0000287078" "00285921" "1" "00006" "00006" "2020-02-09 11:12:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000287079" "00285922" "1" "00006" "00006" "2020-02-09 12:53:46" "" "" "SEQ" "DNA" "" "" "0000287080" "00285923" "1" "00006" "00006" "2020-02-09 12:53:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000287081" "00285924" "1" "00006" "00006" "2020-02-09 12:53:46" "" "" "SEQ" "DNA" "" "" "0000287082" "00285925" "1" "00006" "00006" "2020-02-09 12:53:46" "" "" "SEQ" "DNA" "" "" "0000287083" "00285926" "1" "00006" "00006" "2020-02-09 12:53:46" "" "" "SEQ" "DNA" "" "" "0000287084" "00285927" "1" "00006" "00006" "2020-02-09 12:53:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000287085" "00285928" "1" "00006" "00006" "2020-02-09 12:53:46" "" "" "SEQ" "DNA" "" "" "0000287086" "00285929" "1" "00006" "00006" "2020-02-09 12:53:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000287087" "00285930" "1" "00006" "00006" "2020-02-09 12:53:46" "" "" "SEQ" "DNA" "" "" "0000287088" "00285931" "1" "00006" "00006" "2020-02-09 12:53:46" "" "" "SEQ" "DNA" "" "" "0000287089" "00285932" "1" "00006" "00006" "2020-02-09 12:53:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000287090" "00285933" "1" "00006" "00006" "2020-02-09 12:53:46" "" "" "SEQ" "DNA" "" "" "0000292448" "00291280" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000455033" "00453422" "1" "03544" "03544" "2024-08-25 13:36:21" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000455332" "00453720" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000455339" "00453727" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000455340" "00453728" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000455341" "00453729" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000455352" "00453740" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000467989" "00466331" "1" "04866" "04866" "2025-08-18 09:53:50" "" "" "MS;SEQ-NG-I" "DNA" "blood" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 94 "{{screeningid}}" "{{geneid}}" "0000019889" "APPL2" "0000019889" "SMAD6" "0000019889" "ZNF423" "0000081568" "SMAD6" "0000081574" "SMAD6" "0000268223" "SMAD6" "0000268224" "SMAD6" "0000268225" "SMAD6" "0000268226" "SMAD6" "0000287048" "BMP2" "0000287048" "SMAD6" "0000287049" "BMP2" "0000287049" "SMAD6" "0000287050" "BMP2" "0000287050" "SMAD6" "0000287051" "BMP2" "0000287051" "SMAD6" "0000287052" "BMP2" "0000287052" "SMAD6" "0000287053" "BMP2" "0000287053" "SMAD6" "0000287054" "BMP2" "0000287054" "SMAD6" "0000287055" "BMP2" "0000287055" "SMAD6" "0000287056" "BMP2" "0000287056" "SMAD6" "0000287057" "BMP2" "0000287057" "SMAD6" "0000287058" "BMP2" "0000287058" "SMAD6" "0000287059" "BMP2" "0000287059" "SMAD6" "0000287060" "BMP2" "0000287060" "SMAD6" "0000287061" "SMAD6" "0000287062" "SMAD6" "0000287063" "BMP2" "0000287063" "SMAD6" "0000287064" "BMP2" "0000287064" "SMAD6" "0000287065" "BMP2" "0000287065" "SMAD6" "0000287066" "BMP2" "0000287066" "SMAD6" "0000287067" "BMP2" "0000287067" "SMAD6" "0000287068" "BMP2" "0000287068" "SMAD6" "0000287069" "BMP2" "0000287069" "SMAD6" "0000287070" "BMP2" "0000287070" "SMAD6" "0000287071" "BMP2" "0000287071" "SMAD6" "0000287072" "BMP2" "0000287072" "SMAD6" "0000287073" "BMP2" "0000287073" "SMAD6" "0000287074" "BMP2" "0000287074" "SMAD6" "0000287075" "BMP2" "0000287075" "SMAD6" "0000287076" "BMP2" "0000287076" "SMAD6" "0000287077" "BMP2" "0000287077" "SMAD6" "0000287078" "BMP2" "0000287078" "SMAD6" "0000287078" "TCF12" "0000287079" "BMP2" "0000287079" "SMAD6" "0000287080" "BMP2" "0000287080" "SMAD6" "0000287081" "BMP2" "0000287081" "SMAD6" "0000287082" "BMP2" "0000287082" "SMAD6" "0000287083" "BMP2" "0000287083" "SMAD6" "0000287084" "BMP2" "0000287084" "SMAD6" "0000287085" "BMP2" "0000287085" "SMAD6" "0000287086" "BMP2" "0000287086" "SMAD6" "0000287087" "BMP2" "0000287087" "SMAD6" "0000287088" "BMP2" "0000287088" "SMAD6" "0000287089" "BMP2" "0000287089" "SMAD6" "0000287090" "BMP2" "0000287090" "SMAD6" ## 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 = 188 "{{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}}" "0000040362" "0" "70" "15" "66995638" "66995638" "subst" "0" "00705" "SMAD6_000005" "g.66995638G>A" "" "{PMID:Gilissen 2014:24896178}" "" "" "variant not associated with ID phenotype" "De novo" "?" "" "0" "" "" "g.66703300G>A" "" "likely pathogenic" "" "0000132231" "0" "50" "15" "66996228" "66996228" "subst" "0" "01783" "SMAD6_000007" "g.66996228C>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.66703890C>G" "" "VUS" "" "0000132237" "0" "50" "15" "66996117" "66996117" "subst" "0" "01783" "SMAD6_000006" "g.66996117C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.66703779C>T" "" "VUS" "" "0000308574" "0" "10" "15" "66995735" "66995735" "subst" "0.000759278" "01943" "SMAD6_000010" "g.66995735C>T" "" "" "" "SMAD6(NM_005585.4):c.139C>T (p.P47S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66703397C>T" "" "benign" "" "0000308575" "0" "90" "15" "66996371" "66996371" "del" "0" "01943" "SMAD6_000013" "g.66996371del" "" "" "" "SMAD6(NM_005585.4):c.775delG (p.V259Cfs*280), SMAD6(NM_005585.5):c.775delG (p.V259Cfs*280)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66704033del" "" "pathogenic" "" "0000308576" "0" "50" "15" "66995675" "66995680" "del" "0" "01943" "SMAD6_000008" "g.66995675_66995680del" "" "" "" "SMAD6(NM_005585.4):c.79_84delAGCGGC (p.S27_G28del), SMAD6(NM_005585.5):c.79_84delAGCGGC (p.S27_G28del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66703337_66703342del" "" "VUS" "" "0000308577" "0" "50" "15" "66995688" "66995696" "del" "0" "01943" "SMAD6_000009" "g.66995688_66995696del" "" "" "" "SMAD6(NM_005585.4):c.92_100delGTGGCGGCG (p.G31_G33del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66703350_66703358del" "" "VUS" "" "0000324160" "0" "50" "15" "66995820" "66995820" "subst" "0" "01804" "SMAD6_000011" "g.66995820G>A" "" "" "" "SMAD6(NM_005585.4):c.224G>A (p.(Arg75Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66703482G>A" "" "VUS" "" "0000324161" "0" "50" "15" "66996188" "66996188" "subst" "2.35499E-5" "01804" "SMAD6_000012" "g.66996188C>G" "" "" "" "SMAD6(NM_005585.4):c.592C>G (p.(Arg198Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66703850C>G" "" "VUS" "" "0000555187" "0" "10" "15" "66994830" "66994830" "subst" "0" "01943" "SMAD6_000016" "g.66994830C>T" "" "" "" "SMAD6(NR_027654.1):n.157C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66702492C>T" "" "benign" "" "0000555188" "0" "30" "15" "66995553" "66995553" "subst" "0.0156542" "02327" "SMAD6_000017" "g.66995553C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66703215C>T" "" "likely benign" "" "0000555190" "0" "30" "15" "66995657" "66995657" "subst" "0.00515207" "02327" "SMAD6_000019" "g.66995657G>A" "" "" "" "SMAD6(NM_005585.5):c.61G>A (p.(Asp21Asn), p.D21N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66703319G>A" "" "likely benign" "" "0000555191" "0" "30" "15" "66995671" "66995671" "subst" "0" "01943" "SMAD6_000020" "g.66995671C>T" "" "" "" "SMAD6(NM_005585.4):c.75C>T (p.G25=), SMAD6(NM_005585.5):c.75C>T (p.G25=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66703333C>T" "" "likely benign" "" "0000555192" "0" "30" "15" "66995675" "66995675" "subst" "6.65159E-5" "01943" "SMAD6_000021" "g.66995675A>G" "" "" "" "SMAD6(NM_005585.4):c.79A>G (p.S27G), SMAD6(NM_005585.5):c.79A>G (p.S27G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66703337A>G" "" "likely benign" "" "0000555193" "0" "30" "15" "66995675" "66995680" "del" "0" "02327" "SMAD6_000008" "g.66995675_66995680del" "" "" "" "SMAD6(NM_005585.4):c.79_84delAGCGGC (p.S27_G28del), SMAD6(NM_005585.5):c.79_84delAGCGGC (p.S27_G28del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66703337_66703342del" "" "likely benign" "" "0000555194" "0" "10" "15" "66995716" "66995716" "subst" "0.0363901" "01943" "SMAD6_000022" "g.66995716C>T" "" "" "" "SMAD6(NM_005585.4):c.120C>T (p.G40=), SMAD6(NM_005585.5):c.120C>T (p.(Gly40=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66703378C>T" "" "benign" "" "0000555195" "0" "30" "15" "66995716" "66995716" "subst" "0.0363901" "02327" "SMAD6_000022" "g.66995716C>T" "" "" "" "SMAD6(NM_005585.4):c.120C>T (p.G40=), SMAD6(NM_005585.5):c.120C>T (p.(Gly40=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66703378C>T" "" "likely benign" "" "0000555196" "0" "30" "15" "66995726" "66995726" "subst" "0" "01943" "SMAD6_000023" "g.66995726G>C" "" "" "" "SMAD6(NM_005585.4):c.130G>C (p.E44Q), SMAD6(NM_005585.5):c.130G>C (p.(Glu44Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66703388G>C" "" "likely benign" "" "0000555197" "0" "90" "15" "66995804" "66995804" "del" "0" "01943" "SMAD6_000024" "g.66995804del" "" "" "" "SMAD6(NM_005585.4):c.208delG (p.D70Tfs*55)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66703466del" "" "pathogenic" "" "0000555198" "0" "90" "15" "66995940" "66995940" "subst" "0" "02327" "SMAD6_000025" "g.66995940G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66703602G>A" "" "pathogenic" "" "0000555199" "0" "30" "15" "66995995" "66995995" "subst" "0" "01943" "SMAD6_000026" "g.66995995C>T" "" "" "" "SMAD6(NM_005585.4):c.399C>T (p.D133=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66703657C>T" "" "likely benign" "" "0000555200" "0" "30" "15" "66996030" "66996030" "subst" "0" "01943" "SMAD6_000027" "g.66996030T>C" "" "" "" "SMAD6(NM_005585.4):c.434T>C (p.L145P), SMAD6(NM_005585.5):c.434T>C (p.(Leu145Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66703692T>C" "" "likely benign" "" "0000555201" "0" "50" "15" "66996132" "66996132" "subst" "0" "01943" "SMAD6_000028" "g.66996132T>C" "" "" "" "SMAD6(NM_005585.4):c.536T>C (p.L179P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66703794T>C" "" "VUS" "" "0000555202" "0" "30" "15" "66996259" "66996259" "subst" "0" "02327" "SMAD6_000029" "g.66996259G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66703921G>A" "" "likely benign" "" "0000555203" "0" "10" "15" "66996307" "66996307" "subst" "0.0117797" "01943" "SMAD6_000030" "g.66996307C>T" "" "" "" "SMAD6(NM_005585.4):c.711C>T (p.H237=), SMAD6(NM_005585.5):c.711C>T (p.(His237=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66703969C>T" "" "benign" "" "0000555204" "0" "30" "15" "66996307" "66996307" "subst" "0.0117797" "02327" "SMAD6_000030" "g.66996307C>T" "" "" "" "SMAD6(NM_005585.4):c.711C>T (p.H237=), SMAD6(NM_005585.5):c.711C>T (p.(His237=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66703969C>T" "" "likely benign" "" "0000555205" "0" "50" "15" "66996353" "66996353" "subst" "0" "01943" "SMAD6_000031" "g.66996353G>C" "" "" "" "SMAD6(NM_005585.4):c.757G>C (p.A253P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66704015G>C" "" "VUS" "" "0000555206" "0" "50" "15" "66996390" "66996390" "del" "0" "02327" "SMAD6_000032" "g.66996390del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66704052del" "" "VUS" "" "0000555207" "0" "30" "15" "67001053" "67001053" "subst" "1.34391E-5" "02327" "SMAD6_000033" "g.67001053T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66708715T>C" "" "likely benign" "" "0000555208" "0" "30" "15" "67004031" "67004031" "subst" "0" "02327" "SMAD6_000034" "g.67004031G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66711693G>C" "" "likely benign" "" "0000555209" "0" "50" "15" "67004039" "67004039" "subst" "2.03204E-5" "02327" "SMAD6_000035" "g.67004039C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66711701C>T" "" "VUS" "" "0000555210" "0" "30" "15" "67004042" "67004042" "subst" "4.87765E-5" "02327" "SMAD6_000036" "g.67004042G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66711704G>A" "" "likely benign" "" "0000555211" "0" "30" "15" "67008775" "67008775" "subst" "4.06068E-6" "02327" "SMAD6_000037" "g.67008775A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66716437A>G" "" "likely benign" "" "0000555212" "0" "50" "15" "67008780" "67008780" "del" "0" "02327" "SMAD6_000038" "g.67008780del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66716442del" "" "VUS" "" "0000555213" "0" "30" "15" "67073380" "67073380" "subst" "0.000106566" "01943" "SMAD6_000039" "g.67073380G>C" "" "" "" "SMAD6(NM_005585.4):c.998G>C (p.S333T), SMAD6(NM_005585.5):c.998G>C (p.(Ser333Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66781042G>C" "" "likely benign" "" "0000555214" "0" "10" "15" "67073549" "67073549" "subst" "0.0154177" "02327" "SMAD6_000040" "g.67073549C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66781211C>T" "" "benign" "" "0000555215" "0" "50" "15" "67073550" "67073550" "subst" "0" "02327" "SMAD6_000041" "g.67073550G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66781212G>T" "" "VUS" "" "0000555216" "0" "50" "15" "67073560" "67073560" "subst" "0" "01804" "SMAD6_000042" "g.67073560T>C" "" "" "" "SMAD6(NM_005585.4):c.1178T>C (p.(Leu393Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66781222T>C" "" "VUS" "" "0000555217" "0" "30" "15" "67073618" "67073618" "subst" "0" "01943" "SMAD6_000043" "g.67073618C>T" "" "" "" "SMAD6(NM_005585.4):c.1236C>T (p.V412=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66781280C>T" "" "likely benign" "" "0000555219" "0" "30" "15" "67073744" "67073744" "subst" "2.22096E-5" "01943" "SMAD6_000045" "g.67073744C>T" "" "" "" "SMAD6(NM_005585.4):c.1362C>T (p.A454=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66781406C>T" "" "likely benign" "" "0000555220" "0" "50" "15" "67073750" "67073750" "subst" "0" "02327" "SMAD6_000046" "g.67073750C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66781412C>A" "" "VUS" "" "0000600900" "0" "50" "15" "67033151" "67033151" "subst" "0" "03464" "SMAD6_000001" "g.67033151T>C" "" "{PMID:Sebastiani 2008:17918249}" "" "" "" "Germline" "" "rs1440372" "0" "" "" "g.66740813T>C" "" "VUS" "" "0000600901" "0" "70" "15" "67073833" "67073833" "subst" "0" "03464" "SMAD6_000002" "g.67073833G>T" "" "HTan direct submission" "" "" "" "Germline" "" "" "0" "" "" "g.66781495G>T" "" "likely pathogenic" "" "0000600902" "0" "70" "15" "67073626" "67073626" "subst" "0" "03464" "SMAD6_000003" "g.67073626C>T" "" "HTan direct submission" "" "" "" "Germline" "" "" "0" "" "" "g.66781288C>T" "" "likely pathogenic" "" "0000600903" "0" "30" "15" "67073355" "67073355" "subst" "0.00014445" "03464" "SMAD6_000004" "g.67073355G>A" "" "HTan direct submission" "" "" "" "Germline" "" "" "0" "" "" "g.66781017G>A" "" "likely benign" "" "0000615453" "0" "50" "15" "66995634" "66995634" "subst" "0" "02327" "SMAD6_000047" "g.66995634T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66703296T>G" "" "VUS" "" "0000615454" "0" "30" "15" "66995671" "66995671" "subst" "0" "02326" "SMAD6_000020" "g.66995671C>T" "" "" "" "SMAD6(NM_005585.4):c.75C>T (p.G25=), SMAD6(NM_005585.5):c.75C>T (p.G25=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66703333C>T" "" "likely benign" "" "0000615455" "0" "50" "15" "66995849" "66995849" "subst" "0" "01943" "SMAD6_000048" "g.66995849C>T" "" "" "" "SMAD6(NM_005585.4):c.253C>T (p.R85C), SMAD6(NM_005585.5):c.253C>T (p.R85C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66703511C>T" "" "VUS" "" "0000615456" "0" "70" "15" "66995865" "66995865" "dup" "0" "02327" "SMAD6_000049" "g.66995865dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66703527dup" "" "likely pathogenic" "" "0000615457" "0" "50" "15" "66995948" "66995948" "subst" "0" "02327" "SMAD6_000050" "g.66995948G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66703610G>T" "" "VUS" "" "0000615458" "0" "50" "15" "66995991" "66995991" "subst" "0" "01943" "SMAD6_000052" "g.66995991G>T" "" "" "" "SMAD6(NM_005585.4):c.395G>T (p.R132L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66703653G>T" "" "VUS" "" "0000615459" "0" "30" "15" "66996172" "66996172" "subst" "0" "01943" "SMAD6_000053" "g.66996172G>A" "" "" "" "SMAD6(NM_005585.4):c.576G>A (p.L192=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66703834G>A" "" "likely benign" "" "0000615460" "0" "30" "15" "66996219" "66996219" "subst" "0" "01804" "SMAD6_000054" "g.66996219T>C" "" "" "" "SMAD6(NM_005585.4):c.623T>C (p.(Val208Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66703881T>C" "" "likely benign" "" "0000615461" "0" "30" "15" "66996232" "66996232" "subst" "0.00034359" "02327" "SMAD6_000055" "g.66996232C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66703894C>T" "" "likely benign" "" "0000615462" "0" "70" "15" "66996248" "66996248" "subst" "0" "02327" "SMAD6_000056" "g.66996248C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66703910C>T" "" "likely pathogenic" "" "0000615463" "0" "50" "15" "66996288" "66996288" "subst" "0" "02325" "SMAD6_000057" "g.66996288G>T" "" "" "" "SMAD6(NM_005585.5):c.692G>T (p.R231L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66703950G>T" "" "VUS" "" "0000615464" "0" "90" "15" "66996371" "66996371" "del" "0" "02325" "SMAD6_000013" "g.66996371del" "" "" "" "SMAD6(NM_005585.4):c.775delG (p.V259Cfs*280), SMAD6(NM_005585.5):c.775delG (p.V259Cfs*280)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66704033del" "" "pathogenic" "" "0000615465" "0" "30" "15" "67073642" "67073642" "subst" "0.000268796" "02327" "SMAD6_000058" "g.67073642C>T" "" "" "" "SMAD6(NM_005585.4):c.1260C>T (p.P420=), SMAD6(NM_005585.5):c.1260C>T (p.P420=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66781304C>T" "" "likely benign" "" "0000615466" "0" "30" "15" "67073710" "67073710" "subst" "4.48185E-6" "02327" "SMAD6_000059" "g.67073710G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66781372G>A" "" "likely benign" "" "0000623286" "0" "50" "15" "66995970" "66995970" "subst" "0" "01943" "SMAD6_000051" "g.66995970C>T" "" "" "" "SMAD6(NM_005585.4):c.374C>T (p.T125I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66703632C>T" "" "VUS" "" "0000642788" "21" "90" "15" "66995828" "66995846" "del" "0" "00006" "SMAD6_000063" "g.66995828_66995846del" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "digenic inheritance" "De novo" "" "" "0" "" "" "g.66703490_66703508del" "" "pathogenic (!)" "" "0000642789" "11" "90" "15" "67073416" "67073416" "del" "0" "00006" "SMAD6_000071" "g.67073416del" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "1034delG" "digenic inheritance" "Germline" "" "" "0" "" "" "g.66781078del" "" "pathogenic (!)" "" "0000642790" "0" "90" "15" "67073437" "67073438" "ins" "0" "00006" "SMAD6_000072" "g.67073437_67073438insAT" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "839_840insT" "digenic inheritance" "Germline" "" "" "0" "" "" "g.66781099_66781100insAT" "" "pathogenic (!)" "" "0000642791" "11" "90" "15" "67008777" "67008777" "dup" "0" "00006" "SMAD6_000068" "g.67008777dup" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "digenic inheritance" "Germline" "" "" "0" "" "" "g.66716439dup" "" "pathogenic (!)" "" "0000642792" "11" "90" "15" "67008800" "67008800" "subst" "0" "00006" "SMAD6_000069" "g.67008800A>G" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "digenic inheritance" "Germline" "" "" "0" "" "" "g.66716462A>G" "" "pathogenic (!)" "" "0000642793" "0" "90" "15" "67073502" "67073502" "subst" "8.43768E-6" "00006" "SMAD6_000073" "g.67073502G>T" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "digenic inheritance" "De novo" "" "" "0" "" "" "g.66781164G>T" "" "pathogenic (!)" "" "0000642794" "21" "90" "15" "66995980" "66995981" "del" "0" "00006" "SMAD6_000065" "g.66995980_66995981del" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "381_382delTC" "digenic inheritance, 2nd variant?" "Germline" "" "" "0" "" "" "g.66703642_66703643del" "" "pathogenic (!)" "" "0000642795" "11" "90" "15" "66996263" "66996263" "subst" "0" "00006" "SMAD6_000066" "g.66996263C>T" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "digenic inheritance" "Germline" "" "" "0" "" "" "g.66703925C>T" "" "pathogenic (!)" "" "0000642796" "11" "90" "15" "67073350" "67073350" "subst" "0" "00006" "SMAD6_000070" "g.67073350C>T" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "digenic inheritance" "Germline" "" "" "0" "" "" "g.66781012C>T" "" "pathogenic (!)" "" "0000642797" "0" "90" "15" "67073550" "67073550" "subst" "0" "00006" "SMAD6_000041" "g.67073550G>T" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "digenic inheritance, 2nd variant?" "De novo" "" "" "0" "" "" "g.66781212G>T" "" "pathogenic (!)" "" "0000642798" "11" "90" "15" "67073601" "67073601" "subst" "0" "00006" "SMAD6_000074" "g.67073601G>T" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "digenic inheritance" "Germline" "" "" "0" "" "" "g.66781263G>T" "" "pathogenic (!)" "" "0000642799" "0" "90" "15" "67073775" "67073775" "subst" "5.68689E-5" "00006" "SMAD6_000075" "g.67073775C>T" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "digenic inheritance" "Germline" "" "" "0" "" "" "g.66781437C>T" "" "pathogenic (!)" "" "0000642800" "11" "90" "15" "67073851" "67073851" "subst" "0" "00006" "SMAD6_000077" "g.67073851T>C" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "digenic inheritance" "Germline" "" "" "0" "" "" "g.66781513T>C" "" "pathogenic (!)" "" "0000642801" "0" "90" "15" "66995873" "66995873" "subst" "0" "00006" "SMAD6_000064" "g.66995873A>T" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "digenic inheritance" "Germline/De novo (untested)" "" "" "0" "" "" "g.66703535A>T" "" "pathogenic (!)" "" "0000642802" "0" "90" "15" "67004047" "67004047" "subst" "3.65883E-5" "00006" "SMAD6_000067" "g.67004047G>A" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "digenic inheritance" "Germline/De novo (untested)" "" "" "0" "" "" "g.66711709G>A" "" "pathogenic (!)" "" "0000642803" "0" "90" "15" "66995828" "66995846" "del" "0" "00006" "SMAD6_000063" "g.66995828_66995846del" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "di-genic inheritance" "De novo" "" "" "0" "" "" "g.66703490_66703508del" "" "pathogenic (!)" "" "0000642804" "0" "90" "15" "67073416" "67073416" "del" "0" "00006" "SMAD6_000071" "g.67073416del" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "di-genic inheritance" "Germline/De novo (untested)" "" "" "0" "" "" "g.66781078del" "" "pathogenic (!)" "" "0000642805" "11" "90" "15" "67073416" "67073416" "del" "0" "00006" "SMAD6_000071" "g.67073416del" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "digenic inheritance, 2nd variant?" "Germline" "" "" "0" "" "" "g.66781078del" "" "pathogenic (!)" "" "0000642806" "0" "90" "15" "67073437" "67073438" "ins" "0" "00006" "SMAD6_000072" "g.67073437_67073438insAT" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "di-genic inheritance" "Germline" "" "" "0" "" "" "g.66781099_66781100insAT" "" "pathogenic (!)" "" "0000642807" "21" "90" "15" "67073437" "67073438" "ins" "0" "00006" "SMAD6_000072" "g.67073437_67073438insAT" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "digenic inheritance" "Germline" "" "" "0" "" "" "g.66781099_66781100insAT" "" "pathogenic (!)" "" "0000642808" "0" "90" "15" "67008777" "67008777" "dup" "0" "00006" "SMAD6_000068" "g.67008777dup" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "di-genic inheritance" "Germline/De novo (untested)" "" "" "0" "" "" "g.66716439dup" "" "pathogenic (!)" "" "0000642809" "21" "90" "15" "67008800" "67008800" "subst" "0" "00006" "SMAD6_000069" "g.67008800A>G" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "di-genic inheritance" "Germline" "" "" "0" "" "" "g.66716462A>G" "" "pathogenic (!)" "" "0000642810" "0" "90" "15" "67008800" "67008800" "subst" "0" "00006" "SMAD6_000069" "g.67008800A>G" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "di-genic inheritance" "Germline/De novo (untested)" "" "" "0" "" "" "g.66716462A>G" "" "pathogenic (!)" "" "0000642811" "0" "90" "15" "66995980" "66995981" "del" "0" "00006" "SMAD6_000065" "g.66995980_66995981del" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "di-genic inheritance" "Germline/De novo (untested)" "" "" "0" "" "" "g.66703642_66703643del" "" "pathogenic (!)" "" "0000642812" "0" "90" "15" "66996263" "66996263" "subst" "0" "00006" "SMAD6_000066" "g.66996263C>T" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "di-genic inheritance" "Germline/De novo (untested)" "" "" "0" "" "" "g.66703925C>T" "" "pathogenic (!)" "" "0000642813" "11" "90" "15" "66996263" "66996263" "subst" "0" "00006" "SMAD6_000066" "g.66996263C>T" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "di-genic inheritance" "Germline" "" "" "0" "" "" "g.66703925C>T" "" "pathogenic (!)" "" "0000642814" "0" "90" "15" "67073350" "67073350" "subst" "0" "00006" "SMAD6_000070" "g.67073350C>T" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "di-genic inheritance" "Germline/De novo (untested)" "" "" "0" "" "" "g.66781012C>T" "" "pathogenic (!)" "" "0000642815" "0" "90" "15" "67073601" "67073601" "subst" "0" "00006" "SMAD6_000074" "g.67073601G>T" "" "" "" "" "di-genic inheritance" "Germline/De novo (untested)" "" "" "0" "" "" "g.66781263G>T" "" "pathogenic (!)" "" "0000642816" "11" "90" "15" "67073851" "67073851" "subst" "0" "00006" "SMAD6_000077" "g.67073851T>C" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "di-genic inheritance" "Germline" "" "" "0" "" "" "g.66781513T>C" "" "pathogenic (!)" "" "0000642817" "0" "90" "15" "67073851" "67073851" "subst" "0" "00006" "SMAD6_000077" "g.67073851T>C" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "di-genic inheritance" "Germline/De novo (untested)" "" "" "0" "" "" "g.66781513T>C" "" "pathogenic (!)" "" "0000642846" "11" "90" "15" "66996061" "66996067" "del" "0" "00006" "SMAD6_000060" "g.66996061_66996067del" "" "{PMID:Timberlake 2018:30038786}" "" "455_461del" "suggested di-genic inheritance" "Germline" "" "" "0" "" "" "g.66703723_66703729del" "" "pathogenic (!)" "" "0000642853" "0" "90" "15" "66995598" "66995598" "subst" "0" "00006" "SMAD6_000061" "g.66995598T>G" "" "{PMID:Timberlake 2017:28808027}" "" "" "di-genic inheritance, 2nd variant?" "Germline/De novo (untested)" "" "" "0" "" "" "g.66703260T>G" "" "pathogenic (!)" "" "0000642854" "21" "90" "15" "66995598" "66995598" "subst" "0" "00006" "SMAD6_000061" "g.66995598T>G" "" "{PMID:Timberlake 2017:28808027}" "" "" "di-genic inheritance, 2nd variant?" "Germline" "" "" "0" "" "" "g.66703260T>G" "" "pathogenic (!)" "" "0000642855" "21" "90" "15" "66995598" "66995598" "subst" "0" "00006" "SMAD6_000061" "g.66995598T>G" "" "{PMID:Timberlake 2017:28808027}" "" "" "di-genic inheritance, 2nd variant?" "Germline" "" "" "0" "" "" "g.66703260T>G" "" "pathogenic (!)" "" "0000642856" "0" "90" "15" "66995639" "66995639" "subst" "0" "00006" "SMAD6_000062" "g.66995639C>T" "" "{PMID:Timberlake 2017:28808027}" "" "" "di-genic inheritance, 2nd variant?" "Germline/De novo (untested)" "" "" "0" "" "" "g.66703301C>T" "" "pathogenic (!)" "" "0000642857" "21" "90" "15" "66995639" "66995639" "subst" "0" "00006" "SMAD6_000062" "g.66995639C>T" "" "{PMID:Timberlake 2017:28808027}" "" "" "di-genic inheritance, 2nd variant?" "Germline" "" "" "0" "" "" "g.66703301C>T" "" "pathogenic (!)" "" "0000642858" "21" "90" "15" "66995639" "66995639" "subst" "0" "00006" "SMAD6_000062" "g.66995639C>T" "" "{PMID:Timberlake 2017:28808027}" "" "" "di-genic inheritance, 2nd variant?" "Germline" "" "" "0" "" "" "g.66703301C>T" "" "pathogenic (!)" "" "0000642859" "21" "90" "15" "66995639" "66995639" "subst" "0" "00006" "SMAD6_000062" "g.66995639C>T" "" "{PMID:Timberlake 2017:28808027}" "" "" "di-genic inheritance, 2nd variant?" "Germline" "" "" "0" "" "" "g.66703301C>T" "" "pathogenic (!)" "" "0000642860" "0" "90" "15" "66995865" "66995865" "dup" "0" "00006" "SMAD6_000049" "g.66995865dup" "" "{PMID:Timberlake 2017:28808027}" "" "264dup" "di-genic inheritance, 2nd variant?" "De novo" "" "" "0" "" "" "g.66703527dup" "" "pathogenic (!)" "" "0000642861" "0" "90" "15" "67073778" "67073778" "subst" "0" "00006" "SMAD6_000076" "g.67073778A>T" "" "{PMID:Timberlake 2017:28808027}" "" "" "di-genic inheritance, 2nd variant?" "Germline" "" "" "0" "" "" "g.66781440A>T" "" "pathogenic (!)" "" "0000642862" "11" "90" "15" "67073778" "67073778" "subst" "0" "00006" "SMAD6_000076" "g.67073778A>T" "" "{PMID:Timberlake 2017:28808027}" "" "" "di-genic inheritance, 2nd variant?" "Germline" "" "" "0" "" "" "g.66781440A>T" "" "pathogenic (!)" "" "0000642863" "11" "90" "15" "67073778" "67073778" "subst" "0" "00006" "SMAD6_000076" "g.67073778A>T" "" "{PMID:Timberlake 2017:28808027}" "" "" "di-genic inheritance" "Germline/De novo (untested)" "" "" "0" "" "" "g.66781440A>T" "" "pathogenic (!)" "" "0000642864" "0" "90" "15" "66996061" "66996067" "del" "0" "00006" "SMAD6_000060" "g.66996061_66996067del" "" "{PMID:Timberlake 2017:28808027}" "" "455_461del" "di-genic inheritance, 2nd variant?" "Germline" "" "" "0" "" "" "g.66703723_66703729del" "" "pathogenic (!)" "" "0000649137" "1" "30" "15" "67004029" "67004029" "subst" "0.000142207" "03575" "SMAD6_000014" "g.67004029C>G" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs200004068}" "Germline" "" "rs200004068" "0" "" "" "g.66711691C>G" "" "likely benign" "" "0000657637" "0" "30" "15" "66995860" "66995860" "subst" "0" "01943" "SMAD6_000078" "g.66995860C>G" "" "" "" "SMAD6(NM_005585.4):c.264C>G (p.G88=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66703522C>G" "" "likely benign" "" "0000657638" "0" "30" "15" "67073566" "67073566" "subst" "0.000118327" "02326" "SMAD6_000079" "g.67073566A>G" "" "" "" "SMAD6(NM_005585.5):c.1184A>G (p.K395R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66781228A>G" "" "likely benign" "" "0000657639" "0" "30" "15" "67073573" "67073573" "subst" "0.000101921" "01943" "SMAD6_000080" "g.67073573C>T" "" "" "" "SMAD6(NM_005585.4):c.1191C>T (p.P397=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66781235C>T" "" "likely benign" "" "0000657640" "0" "30" "15" "67073741" "67073741" "subst" "0.000311699" "01943" "SMAD6_000081" "g.67073741C>T" "" "" "" "SMAD6(NM_005585.4):c.1359C>T (p.D453=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66781403C>T" "" "likely benign" "" "0000680264" "0" "70" "15" "66995663" "66995663" "subst" "0" "01943" "SMAD6_000082" "g.66995663G>T" "" "" "" "SMAD6(NM_005585.4):c.67G>T (p.E23*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000691837" "0" "70" "15" "66995834" "66995834" "del" "0" "01943" "SMAD6_000083" "g.66995834del" "" "" "" "SMAD6(NM_005585.4):c.238delG (p.A80Rfs*45)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000691838" "0" "50" "15" "66996167" "66996167" "subst" "0" "01943" "SMAD6_000084" "g.66996167C>G" "" "" "" "SMAD6(NM_005585.4):c.571C>G (p.L191V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691839" "0" "70" "15" "66996201" "66996202" "dup" "0" "01943" "SMAD6_000085" "g.66996201_66996202dup" "" "" "" "SMAD6(NM_005585.4):c.605_606dupCG (p.G203Rfs*40)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000691840" "0" "50" "15" "67008822" "67008822" "subst" "2.84243E-5" "01943" "SMAD6_000086" "g.67008822C>T" "" "" "" "SMAD6(NM_005585.4):c.938C>T (p.P313L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725259" "0" "30" "15" "66995675" "66995675" "subst" "6.65159E-5" "02326" "SMAD6_000021" "g.66995675A>G" "" "" "" "SMAD6(NM_005585.4):c.79A>G (p.S27G), SMAD6(NM_005585.5):c.79A>G (p.S27G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725260" "0" "30" "15" "66995938" "66995938" "subst" "0" "01943" "SMAD6_000087" "g.66995938C>T" "" "" "" "SMAD6(NM_005585.4):c.342C>T (p.G114=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725261" "0" "50" "15" "66995999" "66996019" "del" "0" "01943" "SMAD6_000088" "g.66995999_66996019del" "" "" "" "SMAD6(NM_005585.4):c.403_423delGCCGGCGCGCCCCGGGACGCC (p.A135_A141del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725262" "0" "30" "15" "66996130" "66996130" "subst" "0" "01943" "SMAD6_000089" "g.66996130G>C" "" "" "" "SMAD6(NM_005585.4):c.534G>C (p.S178=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725263" "0" "70" "15" "66996211" "66996211" "subst" "0" "01804" "SMAD6_000090" "g.66996211C>A" "" "" "" "SMAD6(NM_005585.4):c.615C>A (p.(Cys205*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000725264" "0" "30" "15" "67073381" "67073381" "subst" "4.88498E-5" "01943" "SMAD6_000091" "g.67073381C>T" "" "" "" "SMAD6(NM_005585.4):c.999C>T (p.S333=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725265" "0" "30" "15" "67073642" "67073642" "subst" "0.000268796" "01943" "SMAD6_000058" "g.67073642C>T" "" "" "" "SMAD6(NM_005585.4):c.1260C>T (p.P420=), SMAD6(NM_005585.5):c.1260C>T (p.P420=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725266" "0" "50" "15" "67073678" "67073678" "dup" "0" "02329" "SMAD6_000044" "g.67073678dup" "" "" "" "SMAD6(NM_005585.5):c.1296dupC (p.G433Rfs*132)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725267" "0" "50" "15" "67073814" "67073814" "subst" "1.76869E-5" "01943" "SMAD6_000092" "g.67073814C>T" "" "" "" "SMAD6(NM_005585.4):c.1432C>T (p.R478W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806875" "0" "30" "15" "66995731" "66995731" "subst" "0" "01943" "SMAD6_000093" "g.66995731G>A" "" "" "" "SMAD6(NM_005585.4):c.135G>A (p.P45=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806876" "0" "50" "15" "66996287" "66996287" "subst" "0" "01943" "SMAD6_000094" "g.66996287C>G" "" "" "" "SMAD6(NM_005585.4):c.691C>G (p.R231G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806877" "0" "50" "15" "67073338" "67073338" "subst" "0.00046306" "01943" "SMAD6_000095" "g.67073338C>T" "" "" "" "SMAD6(NM_005585.4):c.956C>T (p.A319V), SMAD6(NM_005585.5):c.956C>T (p.A319V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854136" "0" "30" "15" "66995602" "66995602" "subst" "0" "02326" "SMAD6_000096" "g.66995602C>T" "" "" "" "SMAD6(NM_005585.5):c.6C>T (p.F2=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854137" "0" "30" "15" "66995958" "66995958" "subst" "0.00059004" "02325" "SMAD6_000097" "g.66995958G>A" "" "" "" "SMAD6(NM_005585.5):c.362G>A (p.C121Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854138" "0" "50" "15" "66996249" "66996249" "subst" "0" "01943" "SMAD6_000098" "g.66996249A>T" "" "" "" "SMAD6(NM_005585.4):c.653A>T (p.Q218L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854139" "0" "30" "15" "67073338" "67073338" "subst" "0.00046306" "02325" "SMAD6_000095" "g.67073338C>T" "" "" "" "SMAD6(NM_005585.4):c.956C>T (p.A319V), SMAD6(NM_005585.5):c.956C>T (p.A319V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854140" "0" "30" "15" "67073642" "67073642" "subst" "0.000268796" "02326" "SMAD6_000058" "g.67073642C>T" "" "" "" "SMAD6(NM_005585.4):c.1260C>T (p.P420=), SMAD6(NM_005585.5):c.1260C>T (p.P420=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854141" "0" "50" "15" "67073700" "67073700" "subst" "0" "01943" "SMAD6_000101" "g.67073700G>A" "" "" "" "SMAD6(NM_005585.4):c.1318G>A (p.D440N), SMAD6(NM_005585.5):c.1318G>A (p.D440N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854142" "0" "50" "15" "67073700" "67073700" "subst" "0" "02326" "SMAD6_000101" "g.67073700G>A" "" "" "" "SMAD6(NM_005585.4):c.1318G>A (p.D440N), SMAD6(NM_005585.5):c.1318G>A (p.D440N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854143" "0" "30" "15" "67073814" "67073814" "subst" "0" "01943" "SMAD6_000102" "g.67073814C>A" "" "" "" "SMAD6(NM_005585.4):c.1432C>A (p.R478=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863937" "0" "50" "15" "66995675" "66995680" "del" "0" "02325" "SMAD6_000008" "g.66995675_66995680del" "" "" "" "SMAD6(NM_005585.4):c.79_84delAGCGGC (p.S27_G28del), SMAD6(NM_005585.5):c.79_84delAGCGGC (p.S27_G28del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863938" "0" "50" "15" "67073532" "67073532" "subst" "0" "02325" "SMAD6_000099" "g.67073532C>T" "" "" "" "SMAD6(NM_005585.5):c.1150C>T (p.R384C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863939" "0" "70" "15" "67073670" "67073670" "del" "0" "01943" "SMAD6_000100" "g.67073670del" "" "" "" "SMAD6(NM_005585.4):c.1288delG (p.V430Cfs*109)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000892215" "0" "30" "15" "66996010" "66996010" "subst" "0" "02326" "SMAD6_000103" "g.66996010C>T" "" "" "" "SMAD6(NM_005585.5):c.414C>T (p.P138=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892216" "0" "70" "15" "67073514" "67073514" "subst" "0" "01804" "SMAD6_000104" "g.67073514G>T" "" "" "" "SMAD6(NM_005585.4):c.1132G>T (p.(Glu378*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000926017" "0" "50" "15" "66995849" "66995849" "subst" "0" "02326" "SMAD6_000048" "g.66995849C>T" "" "" "" "SMAD6(NM_005585.4):c.253C>T (p.R85C), SMAD6(NM_005585.5):c.253C>T (p.R85C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926018" "0" "30" "15" "66995958" "66995958" "subst" "0.00059004" "02326" "SMAD6_000097" "g.66995958G>A" "" "" "" "SMAD6(NM_005585.5):c.362G>A (p.C121Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930416" "0" "50" "15" "67073388" "67073388" "subst" "0" "02327" "SMAD6_000105" "g.67073388T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950408" "0" "50" "15" "66995638" "66995638" "subst" "0" "02327" "SMAD6_000005" "g.66995638G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950409" "0" "50" "15" "66995806" "66995806" "subst" "0" "02329" "SMAD6_000106" "g.66995806C>G" "" "" "" "SMAD6(NM_005585.5):c.210C>G (p.D70E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950410" "0" "90" "15" "66996061" "66996067" "dup" "0" "02329" "SMAD6_000107" "g.66996061_66996067dup" "" "" "" "SMAD6(NM_005585.5):c.465_471dupCGGGCGG (p.S158Rfs*147)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000950411" "0" "50" "15" "66996359" "66996359" "subst" "0" "01804" "SMAD6_000108" "g.66996359G>A" "" "" "" "SMAD6(NM_005585.4):c.763G>A (p.(Asp255Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950412" "0" "50" "15" "67073593" "67073593" "subst" "8.54212E-6" "02326" "SMAD6_000109" "g.67073593A>G" "" "" "" "SMAD6(NM_005585.5):c.1211A>G (p.N404S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000971575" "0" "50" "15" "67073596" "67073596" "subst" "0" "03779" "SMAD6_000111" "g.67073596G>C" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000981364" "0" "30" "15" "66995657" "66995657" "subst" "0.00515207" "01804" "SMAD6_000019" "g.66995657G>A" "" "" "" "SMAD6(NM_005585.5):c.61G>A (p.(Asp21Asn), p.D21N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981365" "0" "50" "15" "66995707" "66995707" "del" "0" "01804" "SMAD6_000112" "g.66995707del" "" "" "" "SMAD6(NM_005585.5):c.111del (p.(Ser38AlafsTer26))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981366" "0" "50" "15" "66996286" "66996286" "dup" "0" "01804" "SMAD6_000113" "g.66996286dup" "" "" "" "SMAD6(NM_005585.5):c.690dup (p.(Arg231SerfsTer72))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981367" "0" "30" "15" "66996307" "66996307" "subst" "0.0117797" "01804" "SMAD6_000030" "g.66996307C>T" "" "" "" "SMAD6(NM_005585.4):c.711C>T (p.H237=), SMAD6(NM_005585.5):c.711C>T (p.(His237=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981368" "0" "50" "15" "66996336" "66996336" "subst" "0" "02325" "SMAD6_000114" "g.66996336G>C" "" "" "" "SMAD6(NM_005585.5):c.740G>C (p.C247S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990008" "0" "70" "15" "66996192" "66996192" "subst" "0" "03544" "SMAD6_000115" "g.66996192G>A" "" "" "" "" "partial genotype-phenotype correlation (abnormality aortic valve), reported as VUS-LP" "Germline" "yes" "rs1427663505" "0" "" "" "g.66703854G>A" "" "likely pathogenic (!)" "ACMG" "0001001602" "0" "50" "15" "66995637" "66995637" "subst" "0" "01804" "SMAD6_000116" "g.66995637G>A" "" "" "" "SMAD6(NM_005585.4):c.41G>A (p.(Trp14*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001603" "0" "50" "15" "66995769" "66995769" "subst" "0.000392403" "01804" "SMAD6_000117" "g.66995769C>G" "" "" "" "SMAD6(NM_005585.4):c.173C>G (p.(Ser58Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001604" "0" "90" "15" "66995828" "66995846" "del" "0" "01804" "SMAD6_000063" "g.66995828_66995846del" "" "" "" "SMAD6(NM_005585.4):c.232_250delCAGGGCGCGGGGAGGCGCC (p.(Gln78fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001001605" "0" "30" "15" "66996101" "66996101" "subst" "0" "01804" "SMAD6_000118" "g.66996101G>C" "" "" "" "SMAD6(NM_005585.4):c.505G>C (p.(Glu169Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001606" "0" "50" "15" "66996104" "66996104" "subst" "0" "01804" "SMAD6_000119" "g.66996104C>T" "" "" "" "SMAD6(NM_005585.4):c.508C>T (p.(Gln170*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001607" "0" "50" "15" "66996279" "66996279" "subst" "0" "01804" "SMAD6_000120" "g.66996279G>C" "" "" "" "SMAD6(NM_005585.4):c.683G>C (p.(Arg228Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001608" "0" "50" "15" "66996398" "66996398" "subst" "0" "02329" "SMAD6_000121" "g.66996398C>T" "" "" "" "SMAD6(NM_005585.5):c.802C>T (p.R268W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001609" "0" "50" "15" "67073472" "67073472" "subst" "0" "02329" "SMAD6_000122" "g.67073472A>G" "" "" "" "SMAD6(NM_005585.5):c.1090A>G (p.S364G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001610" "0" "50" "15" "67073482" "67073482" "subst" "8.42226E-6" "01804" "SMAD6_000123" "g.67073482G>A" "" "" "" "SMAD6(NM_005585.4):c.1100G>A (p.(Cys367Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001611" "0" "50" "15" "67073682" "67073683" "ins" "0" "02325" "SMAD6_000124" "g.67073682_67073683insGTG" "" "" "" "SMAD6(NM_005585.5):c.1300_1301insGTG (p.Y434delinsCD)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001612" "0" "50" "15" "67073711" "67073711" "del" "0" "01804" "SMAD6_000125" "g.67073711del" "" "" "" "SMAD6(NM_005585.4):c.1329delC (p.(Ser444fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001007446" "0" "70" "15" "67073457" "67073457" "del" "0" "00006" "SMAD6_000129" "g.67073457del" "" "{PMID:Mansoorshahi 2024:39226896}" "" "NM_005585.5:c.1074CG>C" "" "Germline" "" "" "0" "" "" "g.66781119del" "" "VUS" "" "0001007447" "0" "70" "15" "66995675" "66995680" "dup" "0" "00006" "SMAD6_000126" "g.66995675_66995680dup" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "rs769605183" "0" "" "" "g.66703337_66703342dup" "" "VUS" "" "0001007448" "0" "70" "15" "66996168" "66996168" "subst" "0" "00006" "SMAD6_000127" "g.66996168T>C" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "rs1213841516" "0" "" "" "g.66703830T>C" "" "VUS" "" "0001007531" "0" "70" "15" "67073523" "67073523" "del" "0" "00006" "SMAD6_000130" "g.67073523del" "" "{PMID:Mansoorshahi 2024:39226896}" "" "NM_005585.5:c.1140GC>G" "" "Germline" "" "" "0" "" "" "g.66781185del" "" "VUS" "" "0001007535" "0" "70" "15" "67004044" "67004044" "subst" "1.62608E-5" "00006" "SMAD6_000128" "g.67004044G>A" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "rs759918873" "0" "" "" "g.66711706G>A" "" "VUS" "" "0001015221" "0" "10" "15" "66995657" "66995657" "subst" "0.00515207" "02329" "SMAD6_000019" "g.66995657G>A" "" "" "" "SMAD6(NM_005585.5):c.61G>A (p.(Asp21Asn), p.D21N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001026482" "0" "30" "15" "66995886" "66995886" "subst" "0" "02329" "SMAD6_000131" "g.66995886G>A" "" "" "" "SMAD6(NM_005585.5):c.290G>A (p.G97E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026483" "0" "50" "15" "67073785" "67073785" "del" "0" "02325" "SMAD6_000132" "g.67073785del" "" "" "" "SMAD6(NM_005585.5):c.1403delT (p.F468Sfs*71)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027787" "0" "50" "15" "67073787" "67073787" "subst" "0" "03779" "SMAD6_000133" "g.67073787G>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs1416212959" "0" "" "" "" "" "VUS" "" "0001040518" "0" "50" "15" "66995612" "66995612" "subst" "0" "01804" "SMAD6_000134" "g.66995612C>T" "" "" "" "SMAD6(NM_005585.5):c.16C>T (p.(Arg6Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040519" "0" "30" "15" "66995716" "66995716" "subst" "0.0363901" "01804" "SMAD6_000022" "g.66995716C>T" "" "" "" "SMAD6(NM_005585.4):c.120C>T (p.G40=), SMAD6(NM_005585.5):c.120C>T (p.(Gly40=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040520" "0" "50" "15" "66995726" "66995726" "subst" "0" "01804" "SMAD6_000023" "g.66995726G>C" "" "" "" "SMAD6(NM_005585.4):c.130G>C (p.E44Q), SMAD6(NM_005585.5):c.130G>C (p.(Glu44Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040521" "0" "50" "15" "66995847" "66995847" "subst" "0" "01804" "SMAD6_000135" "g.66995847G>T" "" "" "" "SMAD6(NM_005585.5):c.251G>T (p.(Arg84Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040522" "0" "30" "15" "66996030" "66996030" "subst" "0" "01804" "SMAD6_000027" "g.66996030T>C" "" "" "" "SMAD6(NM_005585.4):c.434T>C (p.L145P), SMAD6(NM_005585.5):c.434T>C (p.(Leu145Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040523" "0" "30" "15" "67008756" "67008756" "subst" "0" "01804" "SMAD6_000136" "g.67008756C>T" "" "" "" "SMAD6(NM_005585.5):c.875-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040524" "0" "30" "15" "67073355" "67073355" "subst" "0.00014445" "01804" "SMAD6_000004" "g.67073355G>A" "" "" "" "SMAD6(NM_005585.5):c.973G>A (p.(Ala325Thr), p.A325T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040525" "0" "50" "15" "67073679" "67073679" "subst" "7.12086E-5" "01804" "SMAD6_000137" "g.67073679G>A" "" "" "" "SMAD6(NM_005585.5):c.1297G>A (p.(Gly433Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046502" "0" "50" "15" "67073355" "67073355" "subst" "0.00014445" "02326" "SMAD6_000004" "g.67073355G>A" "" "" "" "SMAD6(NM_005585.5):c.973G>A (p.(Ala325Thr), p.A325T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001047042" "0" "50" "15" "66996380" "66996380" "subst" "0" "03779" "SMAD6_000138" "g.66996380A>G" "" "" "" "" "" "Unknown" "" "rs1270534646" "0" "" "" "" "" "VUS" "" "0001047436" "0" "50" "15" "66994606" "66994606" "subst" "0" "04866" "SMAD6_000139" "g.66994606G>C" "1/12 patients" "" "" "" "" "De novo" "-" "" "0" "" "" "g.66702268G>C" "" "VUS" "ACMG" "0001055169" "0" "50" "15" "66995675" "66995683" "del" "0" "01804" "SMAD6_000140" "g.66995675_66995683del" "" "" "" "SMAD6(NM_005585.5):c.79_87del (p.(Ser27_Gly29del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055170" "0" "30" "15" "67073380" "67073380" "subst" "0.000106566" "01804" "SMAD6_000039" "g.67073380G>C" "" "" "" "SMAD6(NM_005585.4):c.998G>C (p.S333T), SMAD6(NM_005585.5):c.998G>C (p.(Ser333Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055171" "0" "50" "15" "67073680" "67073680" "subst" "0" "01804" "SMAD6_000141" "g.67073680G>T" "" "" "" "SMAD6(NM_005585.5):c.1298G>T (p.(Gly433Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055172" "0" "50" "15" "67073836" "67073836" "subst" "4.80174E-6" "01804" "SMAD6_000142" "g.67073836C>T" "" "" "" "SMAD6(NM_005585.5):c.1454C>T (p.(Pro485Leu))" "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 SMAD6 ## Count = 188 "{{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}}" "0000040362" "00019410" "70" "42" "0" "42" "0" "c.42G>A" "r.(42g>a)" "p.(Trp14*)" "1" "0000132231" "00019410" "50" "632" "0" "632" "0" "c.632C>G" "r.(632c>u)" "p.(Ala211Gly)" "1" "0000132237" "00019410" "90" "521" "0" "521" "0" "c.521C>T" "r.(521c>u)" "p.(Thr174Ile)" "1" "0000308574" "00019410" "10" "139" "0" "139" "0" "c.139C>T" "r.(?)" "p.(Pro47Ser)" "" "0000308575" "00019410" "90" "775" "0" "775" "0" "c.775del" "r.(?)" "p.(Val259CysfsTer280)" "" "0000308576" "00019410" "50" "79" "0" "84" "0" "c.79_84del" "r.(?)" "p.(Ser27_Gly28del)" "" "0000308577" "00019410" "50" "92" "0" "100" "0" "c.92_100del" "r.(?)" "p.(Gly31_Gly33del)" "" "0000324160" "00019410" "50" "224" "0" "224" "0" "c.224G>A" "r.(?)" "p.(Arg75Gln)" "" "0000324161" "00019410" "50" "592" "0" "592" "0" "c.592C>G" "r.(?)" "p.(Arg198Gly)" "" "0000555187" "00019410" "10" "-767" "0" "-767" "0" "c.-767C>T" "r.(?)" "p.(=)" "" "0000555188" "00019410" "30" "-44" "0" "-44" "0" "c.-44C>T" "r.(?)" "p.(=)" "" "0000555190" "00019410" "30" "61" "0" "61" "0" "c.61G>A" "r.(?)" "p.(Asp21Asn)" "" "0000555191" "00019410" "30" "75" "0" "75" "0" "c.75C>T" "r.(?)" "p.(Gly25=)" "" "0000555192" "00019410" "30" "79" "0" "79" "0" "c.79A>G" "r.(?)" "p.(Ser27Gly)" "" "0000555193" "00019410" "30" "79" "0" "84" "0" "c.79_84del" "r.(?)" "p.(Ser27_Gly28del)" "" "0000555194" "00019410" "10" "120" "0" "120" "0" "c.120C>T" "r.(?)" "p.(Gly40=)" "" "0000555195" "00019410" "30" "120" "0" "120" "0" "c.120C>T" "r.(?)" "p.(Gly40=)" "" "0000555196" "00019410" "30" "130" "0" "130" "0" "c.130G>C" "r.(?)" "p.(Glu44Gln)" "" "0000555197" "00019410" "90" "208" "0" "208" "0" "c.208del" "r.(?)" "p.(Asp70ThrfsTer55)" "" "0000555198" "00019410" "90" "344" "0" "344" "0" "c.344G>A" "r.(?)" "p.(Trp115Ter)" "" "0000555199" "00019410" "30" "399" "0" "399" "0" "c.399C>T" "r.(?)" "p.(Asp133=)" "" "0000555200" "00019410" "30" "434" "0" "434" "0" "c.434T>C" "r.(?)" "p.(Leu145Pro)" "" "0000555201" "00019410" "50" "536" "0" "536" "0" "c.536T>C" "r.(?)" "p.(Leu179Pro)" "" "0000555202" "00019410" "30" "663" "0" "663" "0" "c.663G>A" "r.(?)" "p.(Pro221=)" "" "0000555203" "00019410" "10" "711" "0" "711" "0" "c.711C>T" "r.(?)" "p.(His237=)" "" "0000555204" "00019410" "30" "711" "0" "711" "0" "c.711C>T" "r.(?)" "p.(His237=)" "" "0000555205" "00019410" "50" "757" "0" "757" "0" "c.757G>C" "r.(?)" "p.(Ala253Pro)" "" "0000555206" "00019410" "50" "794" "0" "794" "0" "c.794del" "r.(?)" "p.(His265ProfsTer274)" "" "0000555207" "00019410" "30" "818" "-2953" "818" "-2953" "c.818-2953T>C" "r.(=)" "p.(=)" "" "0000555208" "00019410" "30" "843" "0" "843" "0" "c.843G>C" "r.(?)" "p.(Arg281=)" "" "0000555209" "00019410" "50" "851" "0" "851" "0" "c.851C>T" "r.(?)" "p.(Pro284Leu)" "" "0000555210" "00019410" "30" "854" "0" "854" "0" "c.854G>A" "r.(?)" "p.(Arg285His)" "" "0000555211" "00019410" "30" "891" "0" "891" "0" "c.891A>G" "r.(?)" "p.(Thr297=)" "" "0000555212" "00019410" "50" "896" "0" "896" "0" "c.896del" "r.(?)" "p.(Ser299PhefsTer240)" "" "0000555213" "00019410" "30" "998" "0" "998" "0" "c.998G>C" "r.(?)" "p.(Ser333Thr)" "" "0000555214" "00019410" "10" "1167" "0" "1167" "0" "c.1167C>T" "r.(?)" "p.(Phe389=)" "" "0000555215" "00019410" "50" "1168" "0" "1168" "0" "c.1168G>T" "r.(?)" "p.(Gly390Cys)" "" "0000555216" "00019410" "50" "1178" "0" "1178" "0" "c.1178T>C" "r.(?)" "p.(Leu393Pro)" "" "0000555217" "00019410" "30" "1236" "0" "1236" "0" "c.1236C>T" "r.(?)" "p.(Val412=)" "" "0000555219" "00019410" "30" "1362" "0" "1362" "0" "c.1362C>T" "r.(?)" "p.(Ala454=)" "" "0000555220" "00019410" "50" "1368" "0" "1368" "0" "c.1368C>A" "r.(?)" "p.(Asp456Glu)" "" "0000600900" "00019410" "50" "952" "24315" "952" "24315" "c.952+24315T>C" "r.(=)" "p.(=)" "" "0000600901" "00019410" "70" "1451" "0" "1451" "0" "c.1451G>T" "r.(?)" "p.(Cys484Phe)" "" "0000600902" "00019410" "70" "1244" "0" "1244" "0" "c.1244C>T" "r.(?)" "p.(Pro415Leu)" "" "0000600903" "00019410" "30" "973" "0" "973" "0" "c.973G>A" "r.(?)" "p.(Ala325Thr)" "" "0000615453" "00019410" "50" "38" "0" "38" "0" "c.38T>G" "r.(?)" "p.(Leu13Arg)" "" "0000615454" "00019410" "30" "75" "0" "75" "0" "c.75C>T" "r.(?)" "p.(Gly25=)" "" "0000615455" "00019410" "50" "253" "0" "253" "0" "c.253C>T" "r.(?)" "p.(Arg85Cys)" "" "0000615456" "00019410" "70" "269" "0" "269" "0" "c.269dup" "r.(?)" "p.(Arg91GlufsTer30)" "" "0000615457" "00019410" "50" "352" "0" "352" "0" "c.352G>T" "r.(?)" "p.(Glu118Ter)" "" "0000615458" "00019410" "50" "395" "0" "395" "0" "c.395G>T" "r.(?)" "p.(Arg132Leu)" "" "0000615459" "00019410" "30" "576" "0" "576" "0" "c.576G>A" "r.(?)" "p.(Leu192=)" "" "0000615460" "00019410" "30" "623" "0" "623" "0" "c.623T>C" "r.(?)" "p.(Val208Ala)" "" "0000615461" "00019410" "30" "636" "0" "636" "0" "c.636C>T" "r.(?)" "p.(Asp212=)" "" "0000615462" "00019410" "70" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(Gln218Ter)" "" "0000615463" "00019410" "50" "692" "0" "692" "0" "c.692G>T" "r.(?)" "p.(Arg231Leu)" "" "0000615464" "00019410" "90" "775" "0" "775" "0" "c.775del" "r.(?)" "p.(Val259CysfsTer280)" "" "0000615465" "00019410" "30" "1260" "0" "1260" "0" "c.1260C>T" "r.(?)" "p.(Pro420=)" "" "0000615466" "00019410" "30" "1328" "0" "1328" "0" "c.1328G>A" "r.(?)" "p.(Arg443His)" "" "0000623286" "00019410" "50" "374" "0" "374" "0" "c.374C>T" "r.(?)" "p.(Thr125Ile)" "" "0000642788" "00019410" "90" "232" "0" "250" "0" "c.232_250del" "r.(?)" "p.(Gln78Glyfs*41)" "" "0000642789" "00019410" "90" "1034" "0" "1034" "0" "c.1034del" "r.(?)" "p.(Arg345Profs*194)" "" "0000642790" "00019410" "90" "1055" "0" "1056" "0" "c.1055_1056insAT" "r.(?)" "p.(Ala353Trpfs*187)" "" "0000642791" "00019410" "90" "893" "0" "893" "0" "c.893dup" "r.(?)" "p.(Arg281Serfs*22)" "" "0000642792" "00019410" "90" "916" "0" "916" "0" "c.916A>G" "r.(?)" "p.(Thr306Ala)" "" "0000642793" "00019410" "90" "1120" "0" "1120" "0" "c.1120G>T" "r.(?)" "p.(Glu374*)" "" "0000642794" "00019410" "90" "384" "0" "385" "0" "c.384_385del" "r.(?)" "p.(Ser130Glyfs*172)" "" "0000642795" "00019410" "90" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Gln223*)" "" "0000642796" "00019410" "90" "968" "0" "968" "0" "c.968C>T" "r.(?)" "p.(Pro323Leu)" "" "0000642797" "00019410" "90" "1168" "0" "1168" "0" "c.1168G>T" "r.(?)" "p.(Gly390Cys)" "" "0000642798" "00019410" "90" "1219" "0" "1219" "0" "c.1219G>T" "r.(?)" "p.(Glu407*)" "" "0000642799" "00019410" "90" "1393" "0" "1393" "0" "c.1393C>T" "r.(?)" "p.(Arg465Cys)" "" "0000642800" "00019410" "90" "1469" "0" "1469" "0" "c.1469T>C" "r.(?)" "p.(Ile490Thr)" "" "0000642801" "00019410" "90" "277" "0" "277" "0" "c.277A>T" "r.(?)" "p.(Met93Leu)" "" "0000642802" "00019410" "90" "859" "0" "859" "0" "c.859G>A" "r.(?)" "p.(Glu287Lys)" "" "0000642803" "00019410" "90" "232" "0" "250" "0" "c.232_250del" "r.(?)" "p.(Gln78Glyfs*41)" "" "0000642804" "00019410" "90" "1034" "0" "1034" "0" "c.1034del" "r.(?)" "p.(Arg345Profs*194)" "" "0000642805" "00019410" "90" "1034" "0" "1034" "0" "c.1034del" "r.(?)" "p.(Arg345Profs*194)" "" "0000642806" "00019410" "90" "1055" "0" "1056" "0" "c.1055_1056insAT" "r.(?)" "p.(Ala353Trpfs*187)" "" "0000642807" "00019410" "90" "1055" "0" "1056" "0" "c.1055_1056insAT" "r.(?)" "p.(Ala353Trpfs*187)" "" "0000642808" "00019410" "90" "893" "0" "893" "0" "c.893dup" "r.(?)" "p.(Arg281Serfs*22)" "" "0000642809" "00019410" "90" "916" "0" "916" "0" "c.916A>G" "r.(?)" "p.(Thr306Ala)" "" "0000642810" "00019410" "90" "916" "0" "916" "0" "c.916A>G" "r.(?)" "p.(Thr306Ala)" "" "0000642811" "00019410" "90" "384" "0" "385" "0" "c.384_385del" "r.(?)" "p.(Ser130Glyfs*172)" "" "0000642812" "00019410" "90" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Gln223*)" "" "0000642813" "00019410" "90" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Gln223*)" "" "0000642814" "00019410" "90" "968" "0" "968" "0" "c.968C>T" "r.(?)" "p.(Pro323Leu)" "" "0000642815" "00019410" "90" "1219" "0" "1219" "0" "c.1219G>T" "r.(?)" "p.(Glu407*)" "" "0000642816" "00019410" "90" "1469" "0" "1469" "0" "c.1469T>C" "r.(?)" "p.(Ile490Thr)" "" "0000642817" "00019410" "90" "1469" "0" "1469" "0" "c.1469T>C" "r.(?)" "p.(Ile490Thr)" "" "0000642846" "00019410" "90" "465" "0" "471" "0" "c.465_471del" "r.(?)" "p.(Gly156Valfs*23)" "" "0000642853" "00019410" "90" "2" "0" "2" "0" "c.2T>G" "r.(?)" "p.0?" "" "0000642854" "00019410" "90" "2" "0" "2" "0" "c.2T>G" "r.(?)" "p.0?" "" "0000642855" "00019410" "90" "2" "0" "2" "0" "c.2T>G" "r.(?)" "p.0?" "" "0000642856" "00019410" "90" "43" "0" "43" "0" "c.43C>T" "r.(?)" "p.(Arg15*)" "" "0000642857" "00019410" "90" "43" "0" "43" "0" "c.43C>T" "r.(?)" "p.(Arg15*)" "" "0000642858" "00019410" "90" "43" "0" "43" "0" "c.43C>T" "r.(?)" "p.(Arg15*)" "" "0000642859" "00019410" "90" "43" "0" "43" "0" "c.43C>T" "r.(?)" "p.(Arg15*)" "" "0000642860" "00019410" "90" "269" "0" "269" "0" "c.269dup" "r.(?)" "p.(Arg91Glufs*30)" "" "0000642861" "00019410" "90" "1396" "0" "1396" "0" "c.1396A>T" "r.(?)" "p.(Ile466Phe)" "" "0000642862" "00019410" "90" "1396" "0" "1396" "0" "c.1396A>T" "r.(?)" "p.(Ile466Phe)" "" "0000642863" "00019410" "90" "1396" "0" "1396" "0" "c.1396A>T" "r.(?)" "p.(Ile466Phe)" "" "0000642864" "00019410" "90" "465" "0" "471" "0" "c.465_471del" "r.(?)" "p.(Gly156Valfs*23)" "" "0000649137" "00019410" "30" "841" "0" "841" "0" "c.841C>G" "r.(?)" "p.(Arg281Gly)" "" "0000657637" "00019410" "30" "264" "0" "264" "0" "c.264C>G" "r.(?)" "p.(Gly88=)" "" "0000657638" "00019410" "30" "1184" "0" "1184" "0" "c.1184A>G" "r.(?)" "p.(Lys395Arg)" "" "0000657639" "00019410" "30" "1191" "0" "1191" "0" "c.1191C>T" "r.(?)" "p.(Pro397=)" "" "0000657640" "00019410" "30" "1359" "0" "1359" "0" "c.1359C>T" "r.(?)" "p.(Asp453=)" "" "0000680264" "00019410" "70" "67" "0" "67" "0" "c.67G>T" "r.(?)" "p.(Glu23Ter)" "" "0000691837" "00019410" "70" "238" "0" "238" "0" "c.238del" "r.(?)" "p.(Ala80ArgfsTer45)" "" "0000691838" "00019410" "50" "571" "0" "571" "0" "c.571C>G" "r.(?)" "p.(Leu191Val)" "" "0000691839" "00019410" "70" "605" "0" "606" "0" "c.605_606dup" "r.(?)" "p.(Gly203ArgfsTer40)" "" "0000691840" "00019410" "50" "938" "0" "938" "0" "c.938C>T" "r.(?)" "p.(Pro313Leu)" "" "0000725259" "00019410" "30" "79" "0" "79" "0" "c.79A>G" "r.(?)" "p.(Ser27Gly)" "" "0000725260" "00019410" "30" "342" "0" "342" "0" "c.342C>T" "r.(?)" "p.(Gly114=)" "" "0000725261" "00019410" "50" "403" "0" "423" "0" "c.403_423del" "r.(?)" "p.(Ala135_Ala141del)" "" "0000725262" "00019410" "30" "534" "0" "534" "0" "c.534G>C" "r.(?)" "p.(Ser178=)" "" "0000725263" "00019410" "70" "615" "0" "615" "0" "c.615C>A" "r.(?)" "p.(Cys205*)" "" "0000725264" "00019410" "30" "999" "0" "999" "0" "c.999C>T" "r.(?)" "p.(Ser333=)" "" "0000725265" "00019410" "30" "1260" "0" "1260" "0" "c.1260C>T" "r.(?)" "p.(Pro420=)" "" "0000725266" "00019410" "50" "1296" "0" "1296" "0" "c.1296dup" "r.(?)" "p.(Gly433ArgfsTer132)" "" "0000725267" "00019410" "50" "1432" "0" "1432" "0" "c.1432C>T" "r.(?)" "p.(Arg478Trp)" "" "0000806875" "00019410" "30" "135" "0" "135" "0" "c.135G>A" "r.(?)" "p.(Pro45=)" "" "0000806876" "00019410" "50" "691" "0" "691" "0" "c.691C>G" "r.(?)" "p.(Arg231Gly)" "" "0000806877" "00019410" "50" "956" "0" "956" "0" "c.956C>T" "r.(?)" "p.(Ala319Val)" "" "0000854136" "00019410" "30" "6" "0" "6" "0" "c.6C>T" "r.(?)" "p.(Phe2=)" "" "0000854137" "00019410" "30" "362" "0" "362" "0" "c.362G>A" "r.(?)" "p.(Cys121Tyr)" "" "0000854138" "00019410" "50" "653" "0" "653" "0" "c.653A>T" "r.(?)" "p.(Gln218Leu)" "" "0000854139" "00019410" "30" "956" "0" "956" "0" "c.956C>T" "r.(?)" "p.(Ala319Val)" "" "0000854140" "00019410" "30" "1260" "0" "1260" "0" "c.1260C>T" "r.(?)" "p.(Pro420=)" "" "0000854141" "00019410" "50" "1318" "0" "1318" "0" "c.1318G>A" "r.(?)" "p.(Asp440Asn)" "" "0000854142" "00019410" "50" "1318" "0" "1318" "0" "c.1318G>A" "r.(?)" "p.(Asp440Asn)" "" "0000854143" "00019410" "30" "1432" "0" "1432" "0" "c.1432C>A" "r.(?)" "p.(Arg478=)" "" "0000863937" "00019410" "50" "79" "0" "84" "0" "c.79_84del" "r.(?)" "p.(Ser27_Gly28del)" "" "0000863938" "00019410" "50" "1150" "0" "1150" "0" "c.1150C>T" "r.(?)" "p.(Arg384Cys)" "" "0000863939" "00019410" "70" "1288" "0" "1288" "0" "c.1288del" "r.(?)" "p.(Val430Cysfs*109)" "" "0000892215" "00019410" "30" "414" "0" "414" "0" "c.414C>T" "r.(?)" "p.(Pro138=)" "" "0000892216" "00019410" "70" "1132" "0" "1132" "0" "c.1132G>T" "r.(?)" "p.(Glu378*)" "" "0000926017" "00019410" "50" "253" "0" "253" "0" "c.253C>T" "r.(?)" "p.(Arg85Cys)" "" "0000926018" "00019410" "30" "362" "0" "362" "0" "c.362G>A" "r.(?)" "p.(Cys121Tyr)" "" "0000930416" "00019410" "50" "1006" "0" "1006" "0" "c.1006T>G" "r.(?)" "p.(Tyr336Asp)" "" "0000950408" "00019410" "50" "42" "0" "42" "0" "c.42G>A" "r.(?)" "p.(Trp14*)" "" "0000950409" "00019410" "50" "210" "0" "210" "0" "c.210C>G" "r.(?)" "p.(Asp70Glu)" "" "0000950410" "00019410" "90" "465" "0" "471" "0" "c.465_471dup" "r.(?)" "p.(Ser158Argfs*147)" "" "0000950411" "00019410" "50" "763" "0" "763" "0" "c.763G>A" "r.(?)" "p.(Asp255Asn)" "" "0000950412" "00019410" "50" "1211" "0" "1211" "0" "c.1211A>G" "r.(?)" "p.(Asn404Ser)" "" "0000971575" "00019410" "50" "1214" "0" "1214" "0" "c.1214G>C" "r.(?)" "p.(Arg405Pro)" "" "0000981364" "00019410" "30" "61" "0" "61" "0" "c.61G>A" "r.(?)" "p.(Asp21Asn)" "" "0000981365" "00019410" "50" "111" "0" "111" "0" "c.111del" "r.(?)" "p.(Ser38Alafs*26)" "" "0000981366" "00019410" "50" "690" "0" "690" "0" "c.690dup" "r.(?)" "p.(Arg231Serfs*72)" "" "0000981367" "00019410" "30" "711" "0" "711" "0" "c.711C>T" "r.(?)" "p.(His237=)" "" "0000981368" "00019410" "50" "740" "0" "740" "0" "c.740G>C" "r.(?)" "p.(Cys247Ser)" "" "0000990008" "00019410" "70" "596" "0" "596" "0" "c.596G>A" "r.(?)" "p.(Gly199Asp)" "1" "0001001602" "00019410" "50" "41" "0" "41" "0" "c.41G>A" "r.(?)" "p.(Trp14*)" "" "0001001603" "00019410" "50" "173" "0" "173" "0" "c.173C>G" "r.(?)" "p.(Ser58Cys)" "" "0001001604" "00019410" "90" "232" "0" "250" "0" "c.232_250del" "r.(?)" "p.(Gln78Glyfs*41)" "" "0001001605" "00019410" "30" "505" "0" "505" "0" "c.505G>C" "r.(?)" "p.(Glu169Gln)" "" "0001001606" "00019410" "50" "508" "0" "508" "0" "c.508C>T" "r.(?)" "p.(Gln170*)" "" "0001001607" "00019410" "50" "683" "0" "683" "0" "c.683G>C" "r.(?)" "p.(Arg228Pro)" "" "0001001608" "00019410" "50" "802" "0" "802" "0" "c.802C>T" "r.(?)" "p.(Arg268Trp)" "" "0001001609" "00019410" "50" "1090" "0" "1090" "0" "c.1090A>G" "r.(?)" "p.(Ser364Gly)" "" "0001001610" "00019410" "50" "1100" "0" "1100" "0" "c.1100G>A" "r.(?)" "p.(Cys367Tyr)" "" "0001001611" "00019410" "50" "1300" "0" "1301" "0" "c.1300_1301insGTG" "r.(?)" "p.(Tyr434delinsCysAsp)" "" "0001001612" "00019410" "50" "1329" "0" "1329" "0" "c.1329del" "r.(?)" "p.(Ser444Argfs*95)" "" "0001007446" "00019410" "70" "1075" "0" "1075" "0" "c.1075del" "r.(?)" "p.(Asp359ThrfsTer180)" "" "0001007447" "00019410" "70" "79" "0" "84" "0" "c.79_84dup" "r.(?)" "p.(Ser27_Gly28dup)" "" "0001007448" "00019410" "70" "572" "0" "572" "0" "c.572T>C" "r.(?)" "p.(Leu191Pro)" "" "0001007531" "00019410" "70" "1141" "0" "1141" "0" "c.1141del" "r.(?)" "p.(Arg381GlyfsTer158)" "" "0001007535" "00019410" "70" "856" "0" "856" "0" "c.856G>A" "r.(?)" "p.(Asp286Asn)" "" "0001015221" "00019410" "10" "61" "0" "61" "0" "c.61G>A" "r.(?)" "p.(Asp21Asn)" "" "0001026482" "00019410" "30" "290" "0" "290" "0" "c.290G>A" "r.(?)" "p.(Gly97Glu)" "" "0001026483" "00019410" "50" "1403" "0" "1403" "0" "c.1403del" "r.(?)" "p.(Phe468Serfs*71)" "" "0001027787" "00019410" "50" "1405" "0" "1405" "0" "c.1405G>C" "r.(?)" "p.(Ala469Pro)" "" "0001040518" "00019410" "50" "16" "0" "16" "0" "c.16C>T" "r.(?)" "p.(Arg6Cys)" "" "0001040519" "00019410" "30" "120" "0" "120" "0" "c.120C>T" "r.(?)" "p.(Gly40=)" "" "0001040520" "00019410" "50" "130" "0" "130" "0" "c.130G>C" "r.(?)" "p.(Glu44Gln)" "" "0001040521" "00019410" "50" "251" "0" "251" "0" "c.251G>T" "r.(?)" "p.(Arg84Leu)" "" "0001040522" "00019410" "30" "434" "0" "434" "0" "c.434T>C" "r.(?)" "p.(Leu145Pro)" "" "0001040523" "00019410" "30" "875" "-3" "875" "-3" "c.875-3C>T" "r.spl?" "p.?" "" "0001040524" "00019410" "30" "973" "0" "973" "0" "c.973G>A" "r.(?)" "p.(Ala325Thr)" "" "0001040525" "00019410" "50" "1297" "0" "1297" "0" "c.1297G>A" "r.(?)" "p.(Gly433Ser)" "" "0001046502" "00019410" "50" "973" "0" "973" "0" "c.973G>A" "r.(?)" "p.(Ala325Thr)" "" "0001047042" "00019410" "50" "784" "0" "784" "0" "c.784A>G" "r.(?)" "p.(Asn262Asp)" "" "0001047436" "00019410" "50" "-991" "0" "-991" "0" "c.-991G>C" "r.(?)" "p.(=)" "" "0001055169" "00019410" "50" "79" "0" "87" "0" "c.79_87del" "r.(?)" "p.(Ser27_Gly29del)" "" "0001055170" "00019410" "30" "998" "0" "998" "0" "c.998G>C" "r.(?)" "p.(Ser333Thr)" "" "0001055171" "00019410" "50" "1298" "0" "1298" "0" "c.1298G>T" "r.(?)" "p.(Gly433Val)" "" "0001055172" "00019410" "50" "1454" "0" "1454" "0" "c.1454C>T" "r.(?)" "p.(Pro485Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 58 "{{screeningid}}" "{{variantid}}" "0000019889" "0000040362" "0000081568" "0000132231" "0000081574" "0000132237" "0000268223" "0000600900" "0000268224" "0000600901" "0000268225" "0000600902" "0000268226" "0000600903" "0000287048" "0000642788" "0000287049" "0000642789" "0000287050" "0000642790" "0000287051" "0000642791" "0000287052" "0000642792" "0000287053" "0000642793" "0000287054" "0000642794" "0000287055" "0000642795" "0000287056" "0000642796" "0000287057" "0000642797" "0000287058" "0000642798" "0000287059" "0000642799" "0000287060" "0000642800" "0000287061" "0000642801" "0000287062" "0000642802" "0000287063" "0000642803" "0000287064" "0000642804" "0000287065" "0000642805" "0000287066" "0000642806" "0000287067" "0000642807" "0000287068" "0000642808" "0000287069" "0000642809" "0000287070" "0000642810" "0000287071" "0000642811" "0000287072" "0000642812" "0000287073" "0000642813" "0000287074" "0000642814" "0000287075" "0000642815" "0000287076" "0000642816" "0000287077" "0000642817" "0000287078" "0000642846" "0000287079" "0000642853" "0000287080" "0000642854" "0000287081" "0000642855" "0000287082" "0000642856" "0000287083" "0000642857" "0000287084" "0000642858" "0000287085" "0000642859" "0000287086" "0000642860" "0000287087" "0000642861" "0000287088" "0000642862" "0000287089" "0000642863" "0000287090" "0000642864" "0000292448" "0000649137" "0000455033" "0000990008" "0000455332" "0001007531" "0000455339" "0001007446" "0000455340" "0001007447" "0000455341" "0001007448" "0000455352" "0001007535" "0000467989" "0001047436"