### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DDX11) # 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}}" "DDX11" "DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11" "12" "p11.21" "unknown" "NG_023352.1" "UD_132084397747" "" "http://www.LOVD.nl/DDX11" "" "1" "2736" "1663" "601150" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/DDX11_codingDNA.html" "1" "" "" "-1" "" "-1" "00008" "2012-07-01 00:00:00" "00006" "2014-12-12 14:00:45" "00000" "2026-01-20 18:57:21" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000264" "DDX11" "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11, transcript variant 1" "001" "NM_030653.3" "" "NP_085911.2" "" "" "" "-251" "3676" "2721" "31226779" "31257725" "00008" "2012-08-01 11:29:47" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00024" "WABS" "Warsaw breakage syndrome (WABS)" "Mu" "613398" "" "cognitive delay; growth retardation; neuropsychiatric behaviors; microcephaly; craniofacial dysmorphia; cleft/arched palate; syndactyly; organ abnormalitie; cardiac defects; no limb reductions; hearing loss; skin pigmentation abnormalities; no elevated cancer incidence; no bone marrow/hematopoietic defects" "" "00008" "2012-08-01 11:27:24" "00006" "2023-08-31 23:30:08" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00932" "NBS" "Nijmegen breakage syndrome (NBS)" "AR" "251260" "" "cognitive delay; growth retardation; neuropsychiatric behaviors; microcephaly; craniofacial dysmorphia; cleft/arched palate; syndactyly; organ abnormalitie; no cardiac defects; limb reductions; no hearing loss; skin pigmentation abnormalities; elevated cancer incidence; no bone marrow/hematopoietic defects" "" "00006" "2014-09-25 23:29:40" "00006" "2023-08-31 23:31:15" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "DDX11" "00024" "DDX11" "00139" ## Individuals ## Do not remove or alter this header ## ## Count = 24 "{{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}}" "00000200" "" "" "" "3" "" "00028" "{PMID:Capo-Chichi 2013:23033317}" "5-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents/relatives" "F" "yes" "Lebanon" "" "0" "" "" "Lebanon" "FamPat1" "00025472" "" "" "" "1" "" "00075" "{PMID:van Schie 2020:32855419}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "F" "no" "Netherlands" "" "0" "" "" "white" "WABS04" "00025473" "" "" "" "1" "" "00075" "{PMID:van Schie 2020:32855419}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Uruguay" "" "0" "" "" "" "WABS03" "00025474" "" "" "" "2" "" "00075" "{PMID:van Schie 2020:32855419}" "2-generation family, affected brother/sister, unaffected heterozygous carrier mother" "M" "" "Croatia (Hrvatska)" "" "0" "" "" "white" "WABS05" "00374709" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "R-0100" "00397931" "" "" "00025474" "1" "" "00075" "{PMID:van Schie 2020:32855419}" "sister" "F" "" "Croatia (Hrvatska)" "" "0" "" "" "white" "WABS06" "00397932" "" "" "00000200" "1" "" "00028" "{PMID:Capo-Chichi 2013:23033317}" "brother" "M" "yes" "Lebanon" "" "0" "" "" "Lebanon" "FamPat2" "00397933" "" "" "00000200" "1" "" "00028" "{PMID:Capo-Chichi 2013:23033317}" "sister" "F" "yes" "Lebanon" "" "0" "" "" "Lebanon" "FamPat3" "00397934" "" "" "" "1" "" "00006" "{PMID:Bailey 2015:25701697}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00397936" "" "" "" "1" "" "00006" "{PMID:van der Lelij 2010:20137776}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Netherlands" "" "0" "" "" "" "WABS01" "00397937" "" "" "" "1" "" "00006" "{PMID:van Schie 2020:32855419}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Netherlands" "" "0" "" "" "" "WABS02" "00397938" "" "" "" "2" "" "00006" "{PMID:van Schie 2020:32855419}" "2-generation family, 2 affected fetuses, unaffected heterozygous carrier parents" "M" "no" "Netherlands" "<0d" "0" "" "" "" "WABS07" "00397939" "" "" "00397938" "1" "" "00006" "{PMID:van Schie 2020:32855419}" "fetus" "M" "no" "Netherlands" "<0d" "0" "" "" "" "WABS08" "00397940" "" "" "" "2" "" "00006" "{PMID:Eppley 2017:28960803}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "no" "United States" "" "0" "" "" "" "FamPat1" "00397941" "" "" "00397940" "1" "" "00006" "{PMID:Eppley 2017:28960803}" "sister" "F" "no" "United States" "" "0" "" "" "" "FamPat2" "00397942" "" "" "" "1" "" "00006" "{PMID:Alkhunazi 2018:30216658}" "" "M" "no" "Croatia (Hrvatska)" "" "0" "" "" "" "Pat1" "00397943" "" "" "" "1" "" "00006" "{PMID:Alkhunazi 2018:30216658}" "" "M" "yes" "Pakistan" "" "0" "" "" "" "Pat2" "00397944" "" "" "" "1" "" "00006" "{PMID:Alkhunazi 2018:30216658}" "" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "Pat3" "00397945" "" "" "" "1" "" "00006" "{PMID:Alkhunazi 2018:30216658}" "" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "Pat4" "00397946" "" "" "" "1" "" "00006" "{PMID:Alkhunazi 2018:30216658}" "" "M" "yes" "Egypt" "" "0" "" "" "" "Pat5" "00397947" "" "" "" "2" "" "00006" "{PMID:Bottega 2019:30924321}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "no" "Italy" "" "0" "" "" "" "FamPat1" "00397948" "" "" "00397947" "1" "" "00006" "{PMID:Bottega 2019:30924321}" "sister" "F" "no" "Italy" "" "0" "" "" "" "FamPat2" "00397949" "" "" "" "1" "" "00006" "{PMID:Rabin 2019:31287223}" "" "M" "no" "United States" "" "0" "" "" "Jewish" "Pat1" "00397950" "" "" "" "1" "" "00006" "{PMID:Rabin 2019:31287223}" "" "F" "no" "United States" "" "0" "" "" "Jewish" "Pat2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 24 "{{individualid}}" "{{diseaseid}}" "00000200" "00024" "00025472" "00024" "00025473" "00024" "00025474" "00024" "00374709" "00198" "00397931" "00024" "00397932" "00024" "00397933" "00024" "00397934" "00024" "00397936" "00024" "00397937" "00932" "00397938" "00024" "00397939" "00024" "00397940" "00024" "00397941" "00024" "00397942" "00024" "00397943" "00024" "00397944" "00024" "00397945" "00024" "00397946" "00024" "00397947" "00024" "00397948" "00024" "00397949" "00024" "00397950" "00024" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00024, 00139, 00198, 00932 ## Count = 24 "{{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}}" "0000021583" "00024" "00025472" "00075" "Familial, autosomal recessive" "" "no family history malignancy; microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; skin abnormalities; clinodactily; bulbous nose; seizures; lung abnormality; diabetes mellitus; hypotelorism" "" "" "" "" "" "" "" "" "WABS" "Warsaw breakage syndrome" "" "0000021585" "00024" "00025473" "00075" "Familial, autosomal recessive" "" "microcephaly; sensorineural hearing loss; postnatal growth restriction; retrognathia; congenital hypothyroidism; broncho-obstructive episodes" "" "" "" "" "" "" "" "" "WABS" "Warsaw breakage syndrome" "" "0000021586" "00024" "00025474" "00075" "Familial, autosomal recessive" "" "microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; sloping/small forehead; skin abnormalities; clinodactily; bulbous nose; epicanthus; no small/dysplastic ears; brain abnormalities; congenital hypothyroidism; short neck; single palmar crease; high-arched palate; lung abnormality" "" "" "" "" "" "" "" "" "WABS" "Warsaw breakage syndrome" "" "0000269919" "00198" "00374709" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "microcephaly" "" "0000291059" "00024" "00397931" "00075" "Familial, autosomal recessive" "" "microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; sloping/small forehead; skin abnormalities; clinodactily; bulbous nose; epicanthus; brain abnormalities; short neck; single palmar crease; high-arched palate" "" "" "" "" "" "" "" "" "WABS" "Warsaw breakage syndrome" "" "0000291060" "00024" "00000200" "00006" "Familial, autosomal recessive" "" "no family history miscarriages; microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; no retrognathia; sloping/small forehead; clinodactily; no bulbous nose; cochlear abnormalities; small nares; short neck; single palmar crease; no syndactyly; no heart abnormality; hypotonia" "" "" "" "" "" "" "" "" "WABS" "Warsaw breakage syndrome" "" "0000291061" "00024" "00397932" "00006" "Familial, autosomal recessive" "" "no family history miscarriages; microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; sloping/small forehead; no clinodactily; no bulbous nose; small nares; short neck; no syndactyly; tetraology of Fallot" "" "" "" "" "" "" "" "" "WABS" "Warsaw breakage syndrome" "" "0000291062" "00024" "00397933" "00006" "Familial, autosomal recessive" "" "no family history miscarriages; microcephaly; sensorineural hearing loss; postnatal growth restriction; intellectual disability; sloping/small forehead; no clinodactily; no bulbous nose; small nares; short neck; no syndactyly; no heart abnormality" "" "" "" "" "" "" "" "" "WABS" "Warsaw breakage syndrome" "" "0000291063" "00024" "00397934" "00006" "Familial, autosomal recessive" "13y" "see paper; ..., family history malignancy; microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; sloping/small forehead; skin abnormalities; bulbous nose; cochlear abnormalities; epicanthus; small/dysplastic ears; congenital hypothyroidism; no seizures; syndactyly; patent ductus arteriosus; feeding problems; multicystic kidney" "" "" "" "" "" "" "" "" "WABS" "Warsaw breakage syndrome" "" "0000291064" "00024" "00397936" "00006" "Isolated (sporadic)" "" "see paper; ..., family history malignancy; family history miscarriages; microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; sloping/small forehead; skin abnormalities; clinodactily; bulbous nose; cochlear abnormalities; epicanthus; small/dysplastic ears; no congenital hypothyroidism; syndactyly; ventricular septal defect; high-arched palate" "" "" "" "" "" "" "" "" "WABS" "Warsaw breakage syndrome" "" "0000291065" "00932" "00397937" "00006" "Isolated (sporadic)" "" "microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; skin abnormalities; cochlear abnormalities; epicanthus; no small/dysplastic ears; no brain abnormalities; seizures; feeding problems;" "" "" "" "" "" "" "" "" "WABS" "Nijmegen Breakage Syndrome" "" "0000291066" "00024" "00397938" "00006" "Familial, autosomal recessive" "" "family history miscarriages; aborted fetus, microcephaly; prenatal growth restriction, abnormal placenta; retrognathia; skin abnormalities; bulbous nose; no small nares; brain abnormalities; pulmonary hypoplasia; kidney dysplasia" "" "" "" "" "" "" "" "" "WABS" "Warsaw breakage syndrome" "" "0000291067" "00024" "00397939" "00006" "Familial, autosomal recessive" "" "family history miscarriages; aborted fetus, microcephaly; prenatal growth restriction, abnormal placenta; retrognathia; skin abnormalities; bulbous nose;" "" "" "" "" "" "" "" "" "WABS" "Warsaw breakage syndrome" "" "0000291068" "00024" "00397940" "00006" "Familial, autosomal recessive" "" "see paper; ..., microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; sloping/small forehead; skin abnormalities; clinodactily; cochlear abnormalities; epicanthus; small nares; small/dysplastic ears; small thumbs; no seizures; no single palmar crease; no syndactyly; hypotonia; early menarche" "" "" "" "" "" "" "" "" "WABS" "Warsaw breakage syndrome" "" "0000291069" "00024" "00397941" "00006" "Familial, autosomal recessive" "" "see paper; ..., microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; sloping/small forehead; skin abnormalities; clinodactily; cochlear abnormalities; epicanthus; small nares; small/dysplastic ears; small thumbs, small fibulae; no seizures; no single palmar crease; no syndactyly; hypotonia; early menarche" "" "" "" "" "" "" "" "" "WABS" "Warsaw breakage syndrome" "" "0000291070" "00024" "00397942" "00006" "Isolated (sporadic)" "" "see paper; ..., family history malignancy; ; microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; sloping/small forehead; no skin abnormalities; clinodactily; bulbous nose; cochlear abnormalities; epicanthus; small/dysplastic ears; brain abnormalities; seizures; syndactyly; no heart abnormality; no hypotonia" "" "" "" "" "" "" "" "" "WABS" "Warsaw breakage syndrome" "" "0000291071" "00024" "00397943" "00006" "Isolated (sporadic)" "" "see paper; ..., family history malignancy; family history miscarriages; microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; sloping/small forehead; skin abnormalities; clinodactily; bulbous nose; cochlear abnormalities; small nares; small/dysplastic ears; brain abnormalities; syndactyly; patent ductus arteriosus, atrial septal defect; hypotonia; no kidney abnormality;" "" "" "" "" "" "" "" "" "WABS" "Warsaw breakage syndrome" "" "0000291072" "00024" "00397944" "00006" "Isolated (sporadic)" "" "see paper; ..., no family history malignancy; ; microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; sloping/small forehead; skin abnormalities; clinodactily; bulbous nose; cochlear abnormalities; epicanthus; talipes equino varus; syndactyly; ventricular septal defect; no hypotonia" "" "" "" "" "" "" "" "" "WABS" "Warsaw breakage syndrome" "" "0000291073" "00024" "00397945" "00006" "Isolated (sporadic)" "" "see paper; ..., microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; sloping/small forehead; no skin abnormalities; clinodactily; bulbous nose; cochlear abnormalities; brain abnormalities; craniosynostosis; no heart abnormality; no hypotonia; no kidney abnormality" "" "" "" "" "" "" "" "" "WABS" "Warsaw breakage syndrome" "" "0000291074" "00024" "00397946" "00006" "Isolated (sporadic)" "" "see paper; ..., no family history malignancy; microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; sloping/small forehead; no skin abnormalities; clinodactily; bulbous nose; small nares; small/dysplastic ears; brain abnormalities; no heart abnormality; no hypotonia; no kidney abnormality;" "" "" "" "" "" "" "" "" "WABS" "Warsaw breakage syndrome" "" "0000291075" "00024" "00397947" "00006" "Familial, autosomal recessive" "" "see paper; ..., microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; no intellectual disability; retrognathia; sloping/small forehead; skin abnormalities; bulbous nose; cochlear abnormalities; epicanthus; small nares; small/dysplastic ears;" "" "" "" "" "" "" "" "" "WABS" "Warsaw breakage syndrome" "" "0000291076" "00024" "00397948" "00006" "Familial, autosomal recessive" "" "see paper; ..., microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; sloping/small forehead; skin abnormalities; bulbous nose; cochlear abnormalities; epicanthus; small nares; small/dysplastic ears; bilateral shortening first metacarpal bone" "" "" "" "" "" "" "" "" "WABS" "Warsaw breakage syndrome" "" "0000291077" "00024" "00397949" "00006" "Isolated (sporadic)" "" "see paper; ..., family history malignancy; no family history miscarriages; microcephaly; sensorineural hearing loss; abnormal placenta; postnatal growth restriction; intellectual disability; no skin abnormalities; clinodactily; bilateral limitation extension elbow; congenital hypothyroidism; seizures; no heart abnormality; high-arched palate, narrow palate; no feeding problems; diabetes mellitus; no kidney abnormality; hypotelorism" "" "" "" "" "" "" "" "" "WABS" "Warsaw breakage syndrome" "" "0000291078" "00024" "00397950" "00006" "Isolated (sporadic)" "" "see paper; ..., family history miscarriages; microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; skin abnormalities; clinodactily; cochlear abnormalities; brain abnormalities; dislocation elbow; congenital hypothyroidism; seizures; systolic murmur; high-arched palate; feeding problems; no diabetes mellitus" "" "" "" "" "" "" "" "" "WABS" "Warsaw breakage syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 24 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000194" "00000200" "1" "00028" "00028" "2012-08-08 22:04:46" "00008" "2012-09-19 15:12:57" "SEQ;SEQ-NG-S" "DNA" "" "" "0000025476" "00025472" "1" "00075" "00075" "2014-12-09 15:25:53" "" "" "RT-PCR;SEQ;SEQ-NG-I;Western" "DNA;RNA;protein" "Lymphoblast,fibroblast" "" "0000025477" "00025473" "1" "00075" "00075" "2014-12-09 15:51:43" "" "" "RT-PCR;SEQ;SEQ-NG-I;Western" "DNA;RNA;protein" "fibroblast" "" "0000025478" "00025474" "1" "00075" "00075" "2014-12-09 15:59:25" "" "" "RT-PCR;SEQ;SEQ-NG-I;Western" "DNA;RNA;protein" "fibroblasts" "" "0000375903" "00374709" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000399173" "00397931" "1" "00075" "00075" "2014-12-09 15:59:25" "" "" "RT-PCR;SEQ;SEQ-NG-I;Western" "DNA;RNA;protein" "fibroblasts" "" "0000399174" "00397932" "1" "00028" "00028" "2012-08-08 22:04:46" "00008" "2012-09-19 15:12:57" "SEQ;SEQ-NG-S" "DNA" "" "" "0000399175" "00397933" "1" "00028" "00028" "2012-08-08 22:04:46" "00008" "2012-09-19 15:12:57" "SEQ;SEQ-NG-S" "DNA" "" "" "0000399176" "00397934" "1" "00006" "00006" "2021-12-29 17:24:10" "" "" "arrayCGH;SEQ" "DNA" "" "" "0000399180" "00397936" "1" "00006" "00006" "2021-12-30 09:50:05" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000399181" "00397937" "1" "00006" "00006" "2021-12-30 09:50:05" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000399182" "00397938" "1" "00006" "00006" "2021-12-30 09:50:05" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000399183" "00397939" "1" "00006" "00006" "2021-12-30 09:50:05" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000399184" "00397940" "1" "00006" "00006" "2021-12-30 09:50:05" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000399185" "00397941" "1" "00006" "00006" "2021-12-30 09:50:05" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000399186" "00397942" "1" "00006" "00006" "2021-12-30 09:50:05" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000399187" "00397943" "1" "00006" "00006" "2021-12-30 09:50:05" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000399188" "00397944" "1" "00006" "00006" "2021-12-30 09:50:05" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000399189" "00397945" "1" "00006" "00006" "2021-12-30 09:50:05" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000399190" "00397946" "1" "00006" "00006" "2021-12-30 09:50:05" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000399191" "00397947" "1" "00006" "00006" "2021-12-30 09:50:05" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000399192" "00397948" "1" "00006" "00006" "2021-12-30 09:50:05" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000399193" "00397949" "1" "00006" "00006" "2021-12-30 09:50:05" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000399194" "00397950" "1" "00006" "00006" "2021-12-30 09:50:05" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 24 "{{screeningid}}" "{{geneid}}" "0000000194" "DDX11" "0000025476" "DDX11" "0000025477" "DDX11" "0000025478" "DDX11" "0000375903" "COL4A1" "0000399173" "DDX11" "0000399174" "DDX11" "0000399175" "DDX11" "0000399176" "DDX11" "0000399180" "DDX11" "0000399181" "DDX11" "0000399182" "DDX11" "0000399183" "DDX11" "0000399184" "DDX11" "0000399185" "DDX11" "0000399186" "DDX11" "0000399187" "DDX11" "0000399188" "DDX11" "0000399189" "DDX11" "0000399190" "DDX11" "0000399191" "DDX11" "0000399192" "DDX11" "0000399193" "DDX11" "0000399194" "DDX11" ## 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 = 129 "{{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}}" "0000001469" "3" "90" "12" "31242081" "31242081" "subst" "0" "00028" "DDX11_000001" "g.31242081G>A" "" "{PMID:Capo-Chichi 2013:23033317}" "" "" "" "Germline" "yes" "" "0" "" "" "g.31089147G>A" "" "pathogenic (recessive)" "" "0000048357" "10" "70" "12" "31253623" "31253623" "subst" "1.99008E-5" "00075" "DDX11_000002" "g.31253623G>A" "" "{PMID:van Schie 2020:32855419}" "" "" "targeted RNAseq confirmed variant resides in DDX11 instead of pseudogene DDX12P" "Germline" "" "" "0" "" "" "g.31100689G>A" "" "likely pathogenic (recessive)" "" "0000048358" "21" "70" "12" "31254828" "31254828" "subst" "8.13279E-6" "00075" "DDX11_000003" "g.31254828G>A" "" "{PMID:van Schie 2020:32855419}" "" "" "targeted RNAseq confirmed variant resides in DDX11 instead of pseudogene DDX12P" "Germline" "" "" "0" "" "" "g.31101894G>A" "" "likely pathogenic (recessive)" "" "0000048359" "11" "70" "12" "31237542" "31237542" "subst" "0.00358216" "00075" "DDX11_000004" "g.31237542G>A" "" "{PMID:van Schie 2020:32855419}" "" "" "targeted RNAseq confirmed variant resides in DDX11 instead of pseudogene DDX12P" "Germline" "" "" "0" "" "" "g.31084608G>A" "" "likely pathogenic (recessive)" "" "0000048360" "21" "70" "12" "31247557" "31247557" "dup" "0" "00075" "DDX11_000005" "g.31247557dup" "" "{PMID:van Schie 2020:32855419}" "" "" "targeted RNAseq confirmed variant resides in DDX11 instead of pseudogene DDX12P" "Germline" "" "" "0" "" "" "g.31094623dup" "" "likely pathogenic (recessive)" "" "0000048361" "21" "70" "12" "31249834" "31249834" "subst" "6.09162E-5" "00075" "DDX11_000006" "g.31249834C>T" "" "{PMID:van Schie 2020:32855419}" "" "" "" "Germline" "yes" "rs201180239" "0" "" "" "g.31096900C>T" "" "likely pathogenic (recessive)" "" "0000048362" "10" "70" "12" "31256545" "31256545" "subst" "0" "00075" "DDX11_000007" "g.31256545C>A" "" "{PMID:van Schie 2020:32855419}" "" "" "" "Germline" "yes" "" "0" "" "" "g.31103611C>A" "" "likely pathogenic (recessive)" "" "0000249167" "0" "10" "12" "31238946" "31238946" "subst" "0" "02325" "DDX11_000016" "g.31238946A>G" "" "" "" "DDX11(NM_030653.4):c.638+886A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31086012A>G" "" "benign" "" "0000249168" "0" "10" "12" "31240862" "31240862" "subst" "0.51237" "02325" "DDX11_000017" "g.31240862A>T" "" "" "" "DDX11(NM_030653.4):c.639-10A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31087928A>T" "" "benign" "" "0000253586" "0" "10" "12" "31242362" "31242362" "subst" "0.0182667" "01943" "DDX11_000018" "g.31242362A>G" "" "" "" "DDX11(NM_030653.3):c.818A>G (p.K273R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31089428A>G" "" "benign" "" "0000267302" "0" "10" "12" "31242999" "31242999" "subst" "0" "02325" "DDX11_000019" "g.31242999G>A" "" "" "" "DDX11(NM_030653.4):c.1060G>A (p.G354R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31090065G>A" "" "benign" "" "0000267303" "0" "10" "12" "31249861" "31249861" "subst" "0.528885" "02325" "DDX11_000034" "g.31249861C>G" "" "" "" "DDX11(NM_030653.4):c.1699C>G (p.Q567E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31096927C>G" "" "benign" "" "0000267304" "0" "10" "12" "31254752" "31254752" "subst" "0.528824" "02325" "DDX11_000039" "g.31254752C>T" "" "" "" "DDX11(NM_030653.4):c.2053-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31101818C>T" "" "benign" "" "0000267305" "0" "10" "12" "31255263" "31255263" "subst" "0.556752" "02325" "DDX11_000044" "g.31255263G>A" "" "" "" "DDX11(NM_030653.4):c.2271+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31102329G>A" "" "benign" "" "0000267306" "0" "10" "12" "31256546" "31256546" "subst" "0.522263" "02325" "DDX11_000046" "g.31256546G>A" "" "" "" "DDX11(NM_030653.4):c.2572G>A (p.V858I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31103612G>A" "" "benign" "" "0000267307" "0" "10" "12" "31256905" "31256905" "subst" "0.49854" "02325" "DDX11_000048" "g.31256905T>C" "" "" "" "DDX11(NM_152438.2):c.2851T>C (p.C951R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31103971T>C" "" "benign" "" "0000267308" "0" "10" "12" "31238075" "31238075" "subst" "0.528119" "02325" "DDX11_000015" "g.31238075G>A" "" "" "" "DDX11(NM_030653.4):c.638+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31085141G>A" "" "benign" "" "0000270688" "0" "90" "12" "31250818" "31250818" "subst" "0.000414196" "02326" "DDX11_000035" "g.31250818G>C" "" "" "" "DDX11(NM_030653.3):c.1763-1G>C, DDX11(NM_030653.4):c.1763-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31097884G>C" "" "pathogenic" "" "0000274915" "0" "10" "12" "31244703" "31244703" "subst" "0" "01943" "DDX11_000024" "g.31244703C>T" "" "" "" "DDX11(NM_030653.3):c.1140C>T (p.A380=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31091769C>T" "" "benign" "" "0000274916" "0" "50" "12" "31244784" "31244784" "subst" "4.48807E-5" "01943" "DDX11_000026" "g.31244784C>A" "" "" "" "DDX11(NM_030653.3):c.1221C>A (p.S407R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31091850C>A" "" "VUS" "" "0000274917" "0" "10" "12" "31247682" "31247682" "subst" "0" "01943" "DDX11_000029" "g.31247682T>C" "" "" "" "DDX11(NM_001257144.1):c.1415-7T>C (p.(=)), DDX11(NM_030653.3):c.1415-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31094748T>C" "" "benign" "" "0000274918" "0" "30" "12" "31249819" "31249819" "subst" "0.00142545" "01943" "DDX11_000031" "g.31249819C>G" "" "" "" "DDX11(NM_001257144.1):c.1657C>G (p.(Gln553Glu)), DDX11(NM_030653.3):c.1657C>G (p.Q553E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31096885C>G" "" "likely benign" "" "0000274919" "0" "10" "12" "31249860" "31249860" "subst" "0.00173459" "01943" "DDX11_000033" "g.31249860C>T" "" "" "" "DDX11(NM_030653.3):c.1698C>T (p.I566=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31096926C>T" "" "benign" "" "0000274920" "0" "70" "12" "31250818" "31250818" "subst" "0.000414196" "01943" "DDX11_000035" "g.31250818G>C" "" "" "" "DDX11(NM_030653.3):c.1763-1G>C, DDX11(NM_030653.4):c.1763-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31097884G>C" "" "likely pathogenic" "" "0000274921" "0" "10" "12" "31250875" "31250875" "subst" "0" "01943" "DDX11_000036" "g.31250875G>C" "" "" "" "DDX11(NM_030653.3):c.1819G>C (p.A607P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31097941G>C" "" "benign" "" "0000274922" "0" "50" "12" "31253642" "31253644" "del" "0" "01943" "DDX11_000037" "g.31253642_31253644del" "" "" "" "DDX11(NM_030653.3):c.1946_1948delGTG (p.G650del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31100708_31100710del" "" "VUS" "" "0000274923" "0" "50" "12" "31237904" "31237904" "subst" "0" "01943" "DDX11_000012" "g.31237904G>T" "" "" "" "DDX11(NM_030653.3):c.482G>T (p.R161M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31084970G>T" "" "VUS" "" "0000322721" "0" "30" "12" "31236856" "31236856" "subst" "0.00542877" "01804" "DDX11_000008" "g.31236856A>G" "" "" "" "DDX11(NM_001257144.1):c.254A>G (p.(His85Arg)), DDX11(NM_030653.3):c.254A>G (p.H85R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31083922A>G" "" "likely benign" "" "0000322723" "0" "30" "12" "31237510" "31237510" "subst" "0.000116602" "01804" "DDX11_000010" "g.31237510C>T" "" "" "" "DDX11(NM_001257144.1):c.394-7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31084576C>T" "" "likely benign" "" "0000322726" "0" "30" "12" "31238033" "31238033" "subst" "0.00208836" "01804" "DDX11_000014" "g.31238033G>A" "" "" "" "DDX11(NM_001257144.1):c.611G>A (p.(Ser204Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31085099G>A" "" "likely benign" "" "0000322727" "0" "50" "12" "31244665" "31244665" "subst" "0" "01804" "DDX11_000020" "g.31244665C>T" "" "" "" "DDX11(NM_001257144.1):c.1102C>T (p.(Pro368Ser)), DDX11(NM_030653.4):c.1102C>T (p.P368S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31091731C>T" "" "VUS" "" "0000322728" "0" "50" "12" "31244669" "31244669" "subst" "0" "01804" "DDX11_000021" "g.31244669A>G" "" "" "" "DDX11(NM_001257144.1):c.1106A>G (p.(Tyr369Cys)), DDX11(NM_030653.4):c.1106A>G (p.Y369C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31091735A>G" "" "VUS" "" "0000322729" "0" "50" "12" "31244692" "31244692" "subst" "0" "01804" "DDX11_000022" "g.31244692A>G" "" "" "" "DDX11(NM_001257144.1):c.1129A>G (p.(Thr377Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31091758A>G" "" "VUS" "" "0000322730" "0" "50" "12" "31244693" "31244693" "subst" "1.22483E-5" "01804" "DDX11_000023" "g.31244693C>T" "" "" "" "DDX11(NM_001257144.1):c.1130C>T (p.(Thr377Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31091759C>T" "" "VUS" "" "0000322731" "0" "50" "12" "31244774" "31244774" "subst" "0.000126173" "01804" "DDX11_000025" "g.31244774G>T" "" "" "" "DDX11(NM_001257144.1):c.1211G>T (p.(Gly404Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31091840G>T" "" "VUS" "" "0000322733" "0" "30" "12" "31244809" "31244809" "subst" "0" "01804" "DDX11_000027" "g.31244809T>C" "" "" "" "DDX11(NM_001257144.1):c.1242+4T>C (p.?), DDX11(NM_030653.4):c.1242+4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31091875T>C" "" "likely benign" "" "0000322734" "0" "30" "12" "31246163" "31246201" "del" "0" "01804" "DDX11_000028" "g.31246163_31246201del" "" "" "" "DDX11(NM_001257144.1):c.1290-18_1310del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31093229_31093267del" "" "likely benign" "" "0000322736" "0" "30" "12" "31249858" "31249858" "subst" "0.000454926" "01804" "DDX11_000032" "g.31249858A>G" "" "" "" "DDX11(NM_001257144.1):c.1696A>G (p.(Ile566Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31096924A>G" "" "likely benign" "" "0000322739" "0" "50" "12" "31254790" "31254790" "subst" "0" "01804" "DDX11_000041" "g.31254790C>T" "" "" "" "DDX11(NM_001257144.1):c.2076C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31101856C>T" "" "VUS" "" "0000322742" "0" "50" "12" "31256263" "31256263" "subst" "1.66392E-5" "01804" "DDX11_000045" "g.31256263G>A" "" "" "" "DDX11(NM_001257144.1):c.2465G>A (p.(Arg822Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31103329G>A" "" "VUS" "" "0000322743" "0" "50" "12" "31256609" "31256609" "subst" "2.43643E-5" "01804" "DDX11_000047" "g.31256609C>T" "" "" "" "DDX11(NM_001257144.1):c.2630C>T (p.(Pro877Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31103675C>T" "" "VUS" "" "0000547783" "0" "50" "12" "31237542" "31237542" "subst" "0.00358216" "01943" "DDX11_000004" "g.31237542G>A" "" "" "" "DDX11(NM_030653.3):c.419G>A (p.R140Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31084608G>A" "" "VUS" "" "0000547785" "0" "30" "12" "31237921" "31237921" "subst" "0.000210246" "01943" "DDX11_000013" "g.31237921A>G" "" "" "" "DDX11(NM_030653.3):c.499A>G (p.R167G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31084987A>G" "" "likely benign" "" "0000547787" "0" "30" "12" "31242329" "31242329" "subst" "2.43942E-5" "01804" "DDX11_000055" "g.31242329T>C" "" "" "" "DDX11(NM_001257144.1):c.793-8T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31089395T>C" "" "likely benign" "" "0000547789" "0" "10" "12" "31242358" "31242358" "subst" "0.0221523" "01943" "DDX11_000057" "g.31242358G>A" "" "" "" "DDX11(NM_030653.3):c.814G>A (p.V272M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31089424G>A" "" "benign" "" "0000547790" "0" "10" "12" "31242862" "31242864" "dup" "0" "01943" "DDX11_000058" "g.31242862_31242864dup" "" "" "" "DDX11(NM_030653.3):c.923_925dupGGC (p.R308dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31089928_31089930dup" "" "benign" "" "0000547791" "0" "30" "12" "31244665" "31244665" "subst" "0" "02325" "DDX11_000020" "g.31244665C>T" "" "" "" "DDX11(NM_001257144.1):c.1102C>T (p.(Pro368Ser)), DDX11(NM_030653.4):c.1102C>T (p.P368S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31091731C>T" "" "likely benign" "" "0000547792" "0" "50" "12" "31244669" "31244669" "subst" "0" "02325" "DDX11_000021" "g.31244669A>G" "" "" "" "DDX11(NM_001257144.1):c.1106A>G (p.(Tyr369Cys)), DDX11(NM_030653.4):c.1106A>G (p.Y369C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31091735A>G" "" "VUS" "" "0000547796" "0" "30" "12" "31245820" "31245820" "subst" "3.6591E-5" "01804" "DDX11_000061" "g.31245820G>A" "" "" "" "DDX11(NM_001257144.1):c.1283G>A (p.(Arg428Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31092886G>A" "" "likely benign" "" "0000547797" "0" "30" "12" "31247682" "31247682" "subst" "0" "01804" "DDX11_000029" "g.31247682T>C" "" "" "" "DDX11(NM_001257144.1):c.1415-7T>C (p.(=)), DDX11(NM_030653.3):c.1415-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31094748T>C" "" "likely benign" "" "0000547798" "0" "50" "12" "31247740" "31247740" "subst" "0" "01804" "DDX11_000062" "g.31247740A>T" "" "" "" "DDX11(NM_001257144.1):c.1466A>T (p.(Asn489Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31094806A>T" "" "VUS" "" "0000547799" "0" "30" "12" "31249611" "31249611" "subst" "0" "01804" "DDX11_000063" "g.31249611C>T" "" "" "" "DDX11(NM_001257144.1):c.1562C>T (p.(Ser521Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31096677C>T" "" "likely benign" "" "0000547800" "0" "30" "12" "31249819" "31249819" "subst" "0.00142545" "01804" "DDX11_000031" "g.31249819C>G" "" "" "" "DDX11(NM_001257144.1):c.1657C>G (p.(Gln553Glu)), DDX11(NM_030653.3):c.1657C>G (p.Q553E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31096885C>G" "" "likely benign" "" "0000547802" "0" "10" "12" "31253995" "31253995" "subst" "0.527265" "02325" "DDX11_000065" "g.31253995C>T" "" "" "" "DDX11(NM_030653.4):c.1983C>T (p.L661=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31101061C>T" "" "benign" "" "0000547803" "0" "10" "12" "31256342" "31256342" "subst" "0.537592" "02325" "DDX11_000066" "g.31256342G>A" "" "" "" "DDX11(NM_030653.4):c.2536+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31103408G>A" "" "benign" "" "0000547805" "0" "30" "12" "31256795" "31256795" "subst" "2.84678E-5" "01804" "DDX11_000068" "g.31256795G>A" "" "" "" "DDX11(NM_001257144.1):c.2741G>A (p.(Arg914His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31103861G>A" "" "likely benign" "" "0000547806" "0" "30" "12" "31256839" "31256839" "subst" "0.000744435" "01804" "DDX11_000069" "g.31256839G>A" "" "" "" "DDX11(NM_001257144.1):c.2785G>A (p.(Val929Met)), DDX11(NM_152438.1):c.2785G>A (p.V929M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31103905G>A" "" "likely benign" "" "0000547807" "0" "30" "12" "31256929" "31256929" "subst" "0.0112178" "01804" "DDX11_000070" "g.31256929G>A" "" "" "" "DDX11(NM_001257144.1):c.2875G>A (p.(Val959Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31103995G>A" "" "likely benign" "" "0000614088" "0" "50" "12" "31242081" "31242081" "subst" "0" "01804" "DDX11_000001" "g.31242081G>A" "" "" "" "DDX11(NM_001257144.1):c.788G>A (p.(Arg263Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31089147G>A" "" "VUS" "" "0000614089" "0" "30" "12" "31244784" "31244784" "subst" "6.93611E-5" "01943" "DDX11_000071" "g.31244784C>T" "" "" "" "DDX11(NM_030653.3):c.1221C>T (p.S407=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31091850C>T" "" "likely benign" "" "0000614090" "0" "30" "12" "31253609" "31253609" "subst" "0" "01804" "DDX11_000072" "g.31253609T>C" "" "" "" "DDX11(NM_001257144.1):c.1916T>C (p.(Val639Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31100675T>C" "" "likely benign" "" "0000614091" "0" "30" "12" "31256839" "31256839" "subst" "0.000744435" "01943" "DDX11_000069" "g.31256839G>A" "" "" "" "DDX11(NM_001257144.1):c.2785G>A (p.(Val929Met)), DDX11(NM_152438.1):c.2785G>A (p.V929M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31103905G>A" "" "likely benign" "" "0000657075" "0" "30" "12" "31240868" "31240868" "subst" "8.35862E-6" "01804" "DDX11_000073" "g.31240868A>C" "" "" "" "DDX11(NM_001257144.1):c.639-4A>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31087934A>C" "" "likely benign" "" "0000679491" "0" "30" "12" "31242845" "31242845" "subst" "0.00048782" "01943" "DDX11_000074" "g.31242845G>A" "" "" "" "DDX11(NM_030653.3):c.906G>A (p.E302=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679492" "0" "50" "12" "31247712" "31247712" "subst" "0" "01943" "DDX11_000075" "g.31247712G>A" "" "" "" "DDX11(NM_030653.3):c.1438G>A (p.D480N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691324" "0" "30" "12" "31238059" "31238059" "subst" "0" "02326" "DDX11_000054" "g.31238059A>G" "" "" "" "DDX11(NM_030653.4):c.637A>G (p.R213G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691325" "0" "90" "12" "31249834" "31249834" "subst" "6.09162E-5" "01943" "DDX11_000006" "g.31249834C>T" "" "" "" "DDX11(NM_030653.3):c.1672C>T (p.R558*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000724002" "0" "30" "12" "31236856" "31236856" "subst" "0.00542877" "01943" "DDX11_000008" "g.31236856A>G" "" "" "" "DDX11(NM_001257144.1):c.254A>G (p.(His85Arg)), DDX11(NM_030653.3):c.254A>G (p.H85R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000787580" "1" "50" "12" "31244784" "31244784" "subst" "4.48807E-5" "00000" "DDX11_000026" "g.31244784C>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs138190731" "0" "" "" "g.31091850C>A" "" "VUS" "" "0000787581" "2" "50" "12" "31250830" "31250830" "subst" "0" "00000" "DDX11_000076" "g.31250830C>G" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs2911826" "0" "" "" "g.31097896C>G" "{CV-RCV:000203006.1}" "VUS" "" "0000805689" "0" "30" "12" "31236749" "31236749" "subst" "0.00267234" "02327" "DDX11_000051" "g.31236749G>A" "" "" "" "DDX11(NM_030653.4):c.147G>A (p.G49=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805690" "0" "50" "12" "31244656" "31244656" "subst" "4.31678E-6" "01943" "DDX11_000077" "g.31244656G>A" "" "" "" "DDX11(NM_030653.3):c.1093G>A (p.V365M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000831518" "21" "70" "12" "31249834" "31249834" "subst" "6.09162E-5" "00075" "DDX11_000006" "g.31249834C>T" "" "{PMID:van Schie 2020:32855419}" "" "" "" "Germline" "yes" "rs201180239" "0" "" "" "g.31096900C>T" "" "likely pathogenic (recessive)" "" "0000831519" "10" "70" "12" "31256545" "31256545" "subst" "0" "00075" "DDX11_000007" "g.31256545C>A" "" "{PMID:van Schie 2020:32855419}" "" "" "" "Germline" "yes" "" "0" "" "" "g.31103611C>A" "" "likely pathogenic (recessive)" "" "0000831520" "3" "90" "12" "31242081" "31242081" "subst" "0" "00028" "DDX11_000001" "g.31242081G>A" "" "{PMID:Capo-Chichi 2013:23033317}" "" "" "" "Germline" "yes" "" "0" "" "" "g.31089147G>A" "" "pathogenic (recessive)" "" "0000831521" "3" "90" "12" "31242081" "31242081" "subst" "0" "00028" "DDX11_000001" "g.31242081G>A" "" "{PMID:Capo-Chichi 2013:23033317}" "" "" "" "Germline" "yes" "" "0" "" "" "g.31089147G>A" "" "pathogenic (recessive)" "" "0000831522" "1" "90" "12" "31238061" "31238061" "subst" "0" "00006" "DDX11_000078" "g.31238061G>A" "" "{PMID:Bailey 2015:25701697}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000831523" "2" "90" "12" "31253581" "31253581" "del" "0" "00006" "DDX11_000079" "g.31253581del" "" "{PMID:Bailey 2015:25701697}" "" "1888delC" "" "Germline" "" "" "0" "" "" "g.31100647del" "" "pathogenic (recessive)" "" "0000831526" "21" "90" "12" "31255247" "31255247" "subst" "0" "00006" "DDX11_000086" "g.31255247T>C" "" "{PMID:van der Lelij 2010:20137776}" "" "IVS22+2T>C" "" "Germline" "" "" "0" "" "" "g.31102313T>C" "" "pathogenic (recessive)" "" "0000831527" "1" "90" "12" "31236771" "31236771" "subst" "0" "00006" "DDX11_000080" "g.31236771G>C" "" "{PMID:van Schie 2020:32855419}" "" "" "" "Germline" "" "" "0" "" "" "g.31083837G>C" "" "pathogenic (recessive)" "" "0000831528" "1" "90" "12" "31253642" "31253644" "del" "0" "00006" "DDX11_000037" "g.31253642_31253644del" "" "{PMID:van Schie 2020:32855419}" "" "c.1946_1948del" "" "Germline" "yes" "" "0" "" "" "g.31100708_31100710del" "" "pathogenic (recessive)" "" "0000831529" "1" "90" "12" "31253642" "31253644" "del" "0" "00006" "DDX11_000037" "g.31253642_31253644del" "" "{PMID:van Schie 2020:32855419}" "" "c.1946_1948del" "" "Germline" "yes" "" "0" "" "" "g.31100708_31100710del" "" "pathogenic (recessive)" "" "0000831530" "1" "90" "12" "31249572" "31249572" "subst" "0" "00006" "DDX11_000084" "g.31249572T>G" "" "{PMID:Eppley 2017:28960803}" "" "" "" "Germline" "yes" "" "0" "" "" "g.31096638T>G" "" "pathogenic (recessive)" "" "0000831531" "1" "90" "12" "31249572" "31249572" "subst" "0" "00006" "DDX11_000084" "g.31249572T>G" "" "{PMID:Eppley 2017:28960803}" "" "" "" "Germline" "yes" "" "0" "" "" "g.31096638T>G" "" "pathogenic (recessive)" "" "0000831532" "1" "90" "12" "31238028" "31238028" "del" "0" "00006" "DDX11_000081" "g.31238028del" "" "{PMID:Alkhunazi 2018:30216658}" "" "c.606delC" "" "Germline" "" "" "0" "" "" "g.31085094del" "" "pathogenic (recessive)" "" "0000831533" "3" "90" "12" "31244696" "31244696" "subst" "4.0802E-6" "00006" "DDX11_000083" "g.31244696G>C" "" "{PMID:Alkhunazi 2018:30216658}" "" "" "" "Germline" "" "" "0" "" "" "g.31091762G>C" "" "pathogenic (recessive)" "" "0000831534" "3" "90" "12" "31256550" "31256550" "subst" "0" "00006" "DDX11_000089" "g.31256550T>G" "" "{PMID:Alkhunazi 2018:30216658}" "" "" "" "Germline" "" "" "0" "" "" "g.31103616T>G" "" "pathogenic (recessive)" "" "0000831535" "3" "90" "12" "31256550" "31256550" "subst" "0" "00006" "DDX11_000089" "g.31256550T>G" "" "{PMID:Alkhunazi 2018:30216658}" "" "" "" "Germline" "" "" "0" "" "" "g.31103616T>G" "" "pathogenic (recessive)" "" "0000831536" "3" "90" "12" "31256612" "31256612" "dup" "0" "00006" "DDX11_000090" "g.31256612dup" "" "{PMID:Alkhunazi 2018:30216658}" "" "c.2638dupG" "" "Germline" "" "" "0" "" "" "g.31103678dup" "" "pathogenic (recessive)" "" "0000831537" "11" "90" "12" "31242846" "31242859" "del" "0" "00006" "DDX11_000082" "g.31242846_31242859del" "" "{PMID:Bottega 2019:30924321}" "" "" "" "Germline" "yes" "" "0" "" "" "g.31089912_31089925del" "" "pathogenic (recessive)" "" "0000831538" "11" "90" "12" "31242846" "31242859" "del" "0" "00006" "DDX11_000082" "g.31242846_31242859del" "" "{PMID:Bottega 2019:30924321}" "" "" "" "Germline" "yes" "" "0" "" "" "g.31089912_31089925del" "" "pathogenic (recessive)" "" "0000831539" "3" "90" "12" "31250818" "31250818" "subst" "0.000414196" "00006" "DDX11_000035" "g.31250818G>C" "" "{PMID:Rabin 2019:31287223}" "" "" "variant 1/68 Ashkenazi Jewish controls, 1/129 mixed Ashkenazi/Sephardi Jewish controls, 1/895 in Sephardi Jewish controls" "Germline" "" "" "0" "" "" "g.31097884G>C" "" "pathogenic (recessive)" "" "0000831540" "3" "90" "12" "31250818" "31250818" "subst" "0.000414196" "00006" "DDX11_000035" "g.31250818G>C" "" "{PMID:Rabin 2019:31287223}" "" "" "variant 1/68 Ashkenazi Jewish controls, 1/129 mixed Ashkenazi/Sephardi Jewish controls, 1/895 in Sephardi Jewish controls" "Germline" "" "" "0" "" "" "g.31097884G>C" "" "pathogenic (recessive)" "" "0000831541" "10" "90" "12" "31256663" "31256665" "del" "0" "00006" "DDX11_000091" "g.31256663_31256665del" "" "{PMID:van der Lelij 2010:20137776}" "" "" "" "Germline" "" "" "0" "" "" "g.31103729_31103731del" "" "pathogenic (recessive)" "" "0000831542" "2" "90" "12" "31256740" "31256740" "subst" "2.44021E-5" "00006" "DDX11_000092" "g.31256740G>A" "" "{PMID:van Schie 2020:32855419}" "" "" "" "Germline" "" "" "0" "" "" "g.31103806G>A" "" "pathogenic (recessive)" "" "0000831543" "2" "90" "12" "31250818" "31250818" "subst" "0.000414196" "00006" "DDX11_000035" "g.31250818G>C" "" "{PMID:van Schie 2020:32855419}" "" "" "" "Germline" "yes" "" "0" "" "" "g.31097884G>C" "" "pathogenic (recessive)" "" "0000831544" "2" "90" "12" "31250818" "31250818" "subst" "0.000414196" "00006" "DDX11_000035" "g.31250818G>C" "" "{PMID:van Schie 2020:32855419}" "" "" "" "Germline" "yes" "" "0" "" "" "g.31097884G>C" "" "pathogenic (recessive)" "" "0000831545" "2" "90" "12" "31253960" "31253960" "subst" "8.12137E-6" "00006" "DDX11_000085" "g.31253960G>A" "" "{PMID:Eppley 2017:28960803}" "" "IVS19-1G>A" "" "Germline" "yes" "" "0" "" "" "g.31101026G>A" "" "pathogenic (recessive)" "" "0000831546" "2" "90" "12" "31253960" "31253960" "subst" "8.12137E-6" "00006" "DDX11_000085" "g.31253960G>A" "" "{PMID:Eppley 2017:28960803}" "" "IVS19-1G>A" "" "Germline" "yes" "" "0" "" "" "g.31101026G>A" "" "pathogenic (recessive)" "" "0000831547" "2" "90" "12" "31255461" "31255461" "subst" "0.000138362" "00006" "DDX11_000087" "g.31255461G>A" "" "{PMID:Alkhunazi 2018:30216658}" "" "" "" "Germline" "" "" "0" "" "" "g.31102527G>A" "" "pathogenic (recessive)" "" "0000831548" "21" "90" "12" "31256300" "31256300" "subst" "0" "00006" "DDX11_000088" "g.31256300T>C" "" "{PMID:Bottega 2019:30924321}" "" "" "" "Germline" "yes" "" "0" "" "" "g.31103366T>C" "" "pathogenic (recessive)" "" "0000831549" "21" "90" "12" "31256300" "31256300" "subst" "0" "00006" "DDX11_000088" "g.31256300T>C" "" "{PMID:Bottega 2019:30924321}" "" "" "" "Germline" "yes" "" "0" "" "" "g.31103366T>C" "" "pathogenic (recessive)" "" "0000853373" "0" "50" "12" "31237518" "31237518" "subst" "0.000425048" "01943" "DDX11_000053" "g.31237518C>T" "" "" "" "DDX11(NM_030653.3):c.395C>T (p.A132V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853374" "0" "70" "12" "31247557" "31247557" "dup" "0" "01943" "DDX11_000005" "g.31247557dup" "" "" "" "DDX11(NM_030653.3):c.1403dupT (p.S469Vfs*32), DDX11(NM_030653.4):c.1403dup (p.(Ser469ValfsTer32))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000862959" "0" "70" "12" "31255240" "31255249" "dup" "0" "02326" "DDX11_000093" "g.31255240_31255249dup" "" "" "" "DDX11(NM_030653.4):c.2263_2272dupTGCATCCAGG (p.A758Vfs*27)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000890522" "0" "30" "12" "31227045" "31227045" "subst" "0" "02326" "DDX11_000094" "g.31227045C>T" "" "" "" "DDX11(NM_030653.4):c.-5+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890523" "0" "10" "12" "31236749" "31236749" "subst" "0.00267234" "02326" "DDX11_000051" "g.31236749G>A" "" "" "" "DDX11(NM_030653.4):c.147G>A (p.G49=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890524" "0" "30" "12" "31242869" "31242869" "subst" "0" "02326" "DDX11_000095" "g.31242869G>A" "" "" "" "DDX11(NM_030653.4):c.930G>A (p.E310=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890525" "0" "30" "12" "31244809" "31244809" "subst" "0" "02326" "DDX11_000027" "g.31244809T>C" "" "" "" "DDX11(NM_001257144.1):c.1242+4T>C (p.?), DDX11(NM_030653.4):c.1242+4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890526" "0" "50" "12" "31256598" "31256598" "subst" "2.84264E-5" "01804" "DDX11_000096" "g.31256598C>T" "" "" "" "DDX11(NM_001257145.1):c.2546C>T (p.(Pro875Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930076" "0" "50" "12" "31244740" "31244740" "subst" "8.14445E-6" "02325" "DDX11_000097" "g.31244740G>A" "" "" "" "DDX11(NM_030653.3):c.1177G>A (p.(Asp393Asn)), DDX11(NM_030653.4):c.1177G>A (p.D393N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930077" "0" "50" "12" "31253623" "31253623" "subst" "1.99008E-5" "02325" "DDX11_000002" "g.31253623G>A" "" "" "" "DDX11(NM_030653.3):c.1930G>A (p.(Val644Met)), DDX11(NM_030653.4):c.1930G>A (p.V644M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980225" "0" "50" "12" "31247530" "31247530" "subst" "0" "01804" "DDX11_000100" "g.31247530T>A" "" "" "" "DDX11(NM_030653.4):c.1376T>A (p.(Ile459Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980226" "0" "90" "12" "31247557" "31247557" "dup" "0" "01804" "DDX11_000005" "g.31247557dup" "" "" "" "DDX11(NM_030653.3):c.1403dupT (p.S469Vfs*32), DDX11(NM_030653.4):c.1403dup (p.(Ser469ValfsTer32))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000980227" "0" "30" "12" "31253563" "31253563" "subst" "0" "01804" "DDX11_000101" "g.31253563C>T" "" "" "" "DDX11(NM_030653.4):c.1876-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999951" "0" "50" "12" "31244740" "31244740" "subst" "8.14445E-6" "01804" "DDX11_000097" "g.31244740G>A" "" "" "" "DDX11(NM_030653.3):c.1177G>A (p.(Asp393Asn)), DDX11(NM_030653.4):c.1177G>A (p.D393N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999952" "0" "50" "12" "31253623" "31253623" "subst" "1.99008E-5" "01804" "DDX11_000002" "g.31253623G>A" "" "" "" "DDX11(NM_030653.3):c.1930G>A (p.(Val644Met)), DDX11(NM_030653.4):c.1930G>A (p.V644M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999953" "0" "50" "12" "31254836" "31254836" "subst" "4.88015E-5" "01804" "DDX11_000102" "g.31254836C>T" "" "" "" "DDX11(NM_030653.3):c.2122C>T (p.(Pro708Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999954" "0" "50" "12" "31255933" "31255933" "subst" "4.47253E-5" "01804" "DDX11_000103" "g.31255933G>T" "" "" "" "DDX11(NM_030653.3):c.2436G>T (p.(Met812Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999955" "0" "70" "12" "31256740" "31256740" "subst" "2.44021E-5" "01804" "DDX11_000092" "g.31256740G>A" "" "" "" "DDX11(NM_152438.1):c.2687-1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001014958" "0" "30" "12" "31240866" "31240866" "subst" "0.000267778" "02325" "DDX11_000104" "g.31240866A>T" "" "" "" "DDX11(NM_030653.4):c.639-6A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014959" "0" "30" "12" "31242855" "31242855" "subst" "1.83361E-5" "02325" "DDX11_000105" "g.31242855A>C" "" "" "" "DDX11(NM_030653.4):c.916A>C (p.R306=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039188" "0" "50" "12" "31246230" "31246230" "subst" "1.62714E-5" "01804" "DDX11_000106" "g.31246230G>T" "" "" "" "DDX11(NM_030653.4):c.1341G>T (p.(Leu447Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039189" "0" "30" "12" "31249855" "31249855" "subst" "0.0045045" "01804" "DDX11_000107" "g.31249855C>T" "" "" "" "DDX11(NM_030653.4):c.1693C>T (p.(His565Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039190" "0" "50" "12" "31256538" "31256538" "subst" "8.20735E-6" "01804" "DDX11_000108" "g.31256538T>G" "" "" "" "DDX11(NM_030653.4):c.2564T>G (p.(Phe855Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054269" "0" "50" "12" "31236769" "31236769" "subst" "3.2533E-5" "01804" "DDX11_000109" "g.31236769G>T" "" "" "" "DDX11(NM_030653.4):c.167G>T (p.(Cys56Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054270" "0" "50" "12" "31247713" "31247713" "subst" "0" "01804" "DDX11_000110" "g.31247713A>G" "" "" "" "DDX11(NM_030653.4):c.1439A>G (p.(Asp480Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001065716" "0" "50" "12" "31237936" "31237936" "subst" "3.38395E-5" "01804" "DDX11_000111" "g.31237936C>T" "" "" "" "DDX11(NM_030653.4):c.514C>T (p.(Arg172Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001065717" "0" "50" "12" "31255902" "31255902" "subst" "0" "01804" "DDX11_000112" "g.31255902A>G" "" "" "" "DDX11(NM_030653.4):c.2405A>G (p.(Asn802Ser))" "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 DDX11 ## Count = 129 "{{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}}" "0000001469" "00000264" "90" "788" "0" "788" "0" "c.788G>A" "r.(?)" "p.(Arg263Gln)" "7" "0000048357" "00000264" "70" "1930" "0" "1930" "0" "c.1930G>A" "r.1930g>a" "p.Val644Met" "19" "0000048358" "00000264" "70" "2114" "0" "2114" "0" "c.2114G>A" "r.2114g>a" "p.Cys705Tyr" "21" "0000048359" "00000264" "70" "419" "0" "419" "0" "c.419G>A" "r.419g>a" "p.Arg140Gln" "4" "0000048360" "00000264" "70" "1403" "0" "1403" "0" "c.1403dup" "r.1403dup" "p.Ser469Valfs*32" "13" "0000048361" "00000264" "70" "1672" "0" "1672" "0" "c.1672C>T" "r.(?)" "p.(Arg558*)" "17" "0000048362" "00000264" "70" "2571" "0" "2571" "0" "c.2571C>A" "r.(?)" "p.(Ser857Arg)" "26" "0000249167" "00000264" "10" "638" "886" "638" "886" "c.638+886A>G" "r.(=)" "p.(=)" "" "0000249168" "00000264" "10" "639" "-10" "639" "-10" "c.639-10A>T" "r.(=)" "p.(=)" "" "0000253586" "00000264" "10" "818" "0" "818" "0" "c.818A>G" "r.(?)" "p.(Lys273Arg)" "" "0000267302" "00000264" "10" "1060" "0" "1060" "0" "c.1060G>A" "r.(?)" "p.(Gly354Arg)" "" "0000267303" "00000264" "10" "1699" "0" "1699" "0" "c.1699C>G" "r.(?)" "p.(Gln567Glu)" "" "0000267304" "00000264" "10" "2053" "-15" "2053" "-15" "c.2053-15C>T" "r.(=)" "p.(=)" "" "0000267305" "00000264" "10" "2271" "18" "2271" "18" "c.2271+18G>A" "r.(=)" "p.(=)" "" "0000267306" "00000264" "10" "2572" "0" "2572" "0" "c.2572G>A" "r.(?)" "p.(Val858Ile)" "" "0000267307" "00000264" "10" "2856" "0" "2856" "0" "c.*135T>C" "r.(=)" "p.(=)" "" "0000267308" "00000264" "10" "638" "15" "638" "15" "c.638+15G>A" "r.(=)" "p.(=)" "" "0000270688" "00000264" "90" "1763" "-1" "1763" "-1" "c.1763-1G>C" "r.spl?" "p.?" "" "0000274915" "00000264" "10" "1140" "0" "1140" "0" "c.1140C>T" "r.(?)" "p.(Ala380=)" "" "0000274916" "00000264" "50" "1221" "0" "1221" "0" "c.1221C>A" "r.(?)" "p.(Ser407Arg)" "" "0000274917" "00000264" "10" "1415" "-7" "1415" "-7" "c.1415-7T>C" "r.(=)" "p.(=)" "" "0000274918" "00000264" "30" "1657" "0" "1657" "0" "c.1657C>G" "r.(?)" "p.(Gln553Glu)" "" "0000274919" "00000264" "10" "1698" "0" "1698" "0" "c.1698C>T" "r.(?)" "p.(Ile566=)" "" "0000274920" "00000264" "70" "1763" "-1" "1763" "-1" "c.1763-1G>C" "r.spl?" "p.?" "" "0000274921" "00000264" "10" "1819" "0" "1819" "0" "c.1819G>C" "r.(?)" "p.(Ala607Pro)" "" "0000274922" "00000264" "50" "1948" "1" "1948" "3" "c.1948+1_1948+3del" "r.spl?" "p.?" "" "0000274923" "00000264" "50" "482" "0" "482" "0" "c.482G>T" "r.(?)" "p.(Arg161Met)" "" "0000322721" "00000264" "30" "254" "0" "254" "0" "c.254A>G" "r.(?)" "p.(His85Arg)" "" "0000322723" "00000264" "30" "394" "-7" "394" "-7" "c.394-7C>T" "r.(=)" "p.(=)" "" "0000322726" "00000264" "30" "611" "0" "611" "0" "c.611G>A" "r.(?)" "p.(Ser204Asn)" "" "0000322727" "00000264" "50" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Pro368Ser)" "" "0000322728" "00000264" "50" "1106" "0" "1106" "0" "c.1106A>G" "r.(?)" "p.(Tyr369Cys)" "" "0000322729" "00000264" "50" "1129" "0" "1129" "0" "c.1129A>G" "r.(?)" "p.(Thr377Ala)" "" "0000322730" "00000264" "50" "1130" "0" "1130" "0" "c.1130C>T" "r.(?)" "p.(Thr377Ile)" "" "0000322731" "00000264" "50" "1211" "0" "1211" "0" "c.1211G>T" "r.(?)" "p.(Gly404Val)" "" "0000322733" "00000264" "30" "1242" "4" "1242" "4" "c.1242+4T>C" "r.spl?" "p.?" "" "0000322734" "00000264" "30" "1290" "-16" "1312" "0" "c.1290-16_1312del" "r.spl?" "p.?" "" "0000322736" "00000264" "30" "1696" "0" "1696" "0" "c.1696A>G" "r.(?)" "p.(Ile566Val)" "" "0000322739" "00000264" "50" "2076" "0" "2076" "0" "c.2076C>T" "r.(?)" "p.(Leu692=)" "" "0000322742" "00000264" "50" "2470" "0" "2470" "0" "c.2470G>A" "r.(?)" "p.(Gly824Ser)" "" "0000322743" "00000264" "50" "2635" "0" "2635" "0" "c.2635C>T" "r.(?)" "p.(Arg879Ter)" "" "0000547783" "00000264" "50" "419" "0" "419" "0" "c.419G>A" "r.(?)" "p.(Arg140Gln)" "" "0000547785" "00000264" "30" "499" "0" "499" "0" "c.499A>G" "r.(?)" "p.(Arg167Gly)" "" "0000547787" "00000264" "30" "793" "-8" "793" "-8" "c.793-8T>C" "r.(=)" "p.(=)" "" "0000547789" "00000264" "10" "814" "0" "814" "0" "c.814G>A" "r.(?)" "p.(Val272Met)" "" "0000547790" "00000264" "10" "923" "0" "925" "0" "c.923_925dup" "r.(?)" "p.(Arg308dup)" "" "0000547791" "00000264" "30" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Pro368Ser)" "" "0000547792" "00000264" "50" "1106" "0" "1106" "0" "c.1106A>G" "r.(?)" "p.(Tyr369Cys)" "" "0000547796" "00000264" "30" "1283" "0" "1283" "0" "c.1283G>A" "r.(?)" "p.(Arg428Gln)" "" "0000547797" "00000264" "30" "1415" "-7" "1415" "-7" "c.1415-7T>C" "r.(=)" "p.(=)" "" "0000547798" "00000264" "50" "1466" "0" "1466" "0" "c.1466A>T" "r.(?)" "p.(Asn489Ile)" "" "0000547799" "00000264" "30" "1562" "0" "1562" "0" "c.1562C>T" "r.(?)" "p.(Ser521Phe)" "" "0000547800" "00000264" "30" "1657" "0" "1657" "0" "c.1657C>G" "r.(?)" "p.(Gln553Glu)" "" "0000547802" "00000264" "10" "1983" "0" "1983" "0" "c.1983C>T" "r.(?)" "p.(Leu661=)" "" "0000547803" "00000264" "10" "2536" "13" "2536" "13" "c.2536+13G>A" "r.(=)" "p.(=)" "" "0000547805" "00000264" "30" "2746" "0" "2746" "0" "c.*25G>A" "r.(=)" "p.(=)" "" "0000547806" "00000264" "30" "2790" "0" "2790" "0" "c.*69G>A" "r.(=)" "p.(=)" "" "0000547807" "00000264" "30" "2880" "0" "2880" "0" "c.*159G>A" "r.(=)" "p.(=)" "" "0000614088" "00000264" "50" "788" "0" "788" "0" "c.788G>A" "r.(?)" "p.(Arg263Gln)" "" "0000614089" "00000264" "30" "1221" "0" "1221" "0" "c.1221C>T" "r.(?)" "p.(Ser407=)" "" "0000614090" "00000264" "30" "1916" "0" "1916" "0" "c.1916T>C" "r.(?)" "p.(Val639Ala)" "" "0000614091" "00000264" "30" "2790" "0" "2790" "0" "c.*69G>A" "r.(=)" "p.(=)" "" "0000657075" "00000264" "30" "639" "-4" "639" "-4" "c.639-4A>C" "r.spl?" "p.?" "" "0000679491" "00000264" "30" "906" "0" "906" "0" "c.906G>A" "r.(?)" "p.(Glu302=)" "" "0000679492" "00000264" "50" "1438" "0" "1438" "0" "c.1438G>A" "r.(?)" "p.(Asp480Asn)" "" "0000691324" "00000264" "30" "637" "0" "637" "0" "c.637A>G" "r.(?)" "p.(Arg213Gly)" "" "0000691325" "00000264" "90" "1672" "0" "1672" "0" "c.1672C>T" "r.(?)" "p.(Arg558Ter)" "" "0000724002" "00000264" "30" "254" "0" "254" "0" "c.254A>G" "r.(?)" "p.(His85Arg)" "" "0000787580" "00000264" "50" "1221" "0" "1221" "0" "c.1221C>A" "r.(?)" "p.(Ser407Arg)" "10" "0000787581" "00000264" "50" "1774" "0" "1774" "0" "c.1774C>G" "r.(?)" "p.(Gln592Glu)" "18" "0000805689" "00000264" "30" "147" "0" "147" "0" "c.147G>A" "r.(?)" "p.(Gly49=)" "" "0000805690" "00000264" "50" "1093" "0" "1093" "0" "c.1093G>A" "r.(?)" "p.(Val365Met)" "" "0000831518" "00000264" "70" "1672" "0" "1672" "0" "c.1672C>T" "r.(?)" "p.(Arg558*)" "17" "0000831519" "00000264" "70" "2571" "0" "2571" "0" "c.2571C>A" "r.(?)" "p.(Ser857Arg)" "26" "0000831520" "00000264" "90" "788" "0" "788" "0" "c.788G>A" "r.(?)" "p.(Arg263Gln)" "7" "0000831521" "00000264" "90" "788" "0" "788" "0" "c.788G>A" "r.(?)" "p.(Arg263Gln)" "7" "0000831522" "00000264" "90" "638" "1" "638" "1" "c.638+1G>A" "r.spl" "p.?" "" "0000831523" "00000264" "90" "1888" "0" "1888" "0" "c.1888del" "r.(?)" "p.(Arg630Glyfs*23)" "" "0000831526" "00000264" "90" "2271" "2" "2271" "2" "c.2271+2T>C" "r.2262_2271del" "p.Cys755Profs*9" "" "0000831527" "00000264" "90" "169" "0" "169" "0" "c.169G>C" "r.(?)" "p.(Gly57Arg)" "" "0000831528" "00000264" "90" "1948" "1" "1948" "3" "c.1948+1_1948+3del" "r.spl?" "p.(Gly650del)" "" "0000831529" "00000264" "90" "1948" "1" "1948" "3" "c.1948+1_1948+3del" "r.spl?" "p.(Gly650del)" "" "0000831530" "00000264" "90" "1523" "0" "1523" "0" "c.1523T>G" "r.(?)" "p.(Leu508Arg)" "" "0000831531" "00000264" "90" "1523" "0" "1523" "0" "c.1523T>G" "r.(?)" "p.(Leu508Arg)" "" "0000831532" "00000264" "90" "606" "0" "606" "0" "c.606del" "r.(?)" "p.(Tyr202Ter)" "" "0000831533" "00000264" "90" "1133" "0" "1133" "0" "c.1133G>C" "r.(?)" "p.(Arg378Pro)" "" "0000831534" "00000264" "90" "2576" "0" "2576" "0" "c.2576T>G" "r.(?)" "p.(Val859Gly)" "" "0000831535" "00000264" "90" "2576" "0" "2576" "0" "c.2576T>G" "r.(?)" "p.(Val859Gly)" "" "0000831536" "00000264" "90" "2638" "0" "2638" "0" "c.2638dup" "r.(?)" "p.(Ala880GlyfsTer94)" "" "0000831537" "00000264" "90" "907" "0" "920" "0" "c.907_920del" "r.(?)" "p.(Lys303GlufsTer22)" "" "0000831538" "00000264" "90" "907" "0" "920" "0" "c.907_920del" "r.(?)" "p.(Lys303GlufsTer22)" "" "0000831539" "00000264" "90" "1763" "-1" "1763" "-1" "c.1763-1G>C" "r.1763_1766del" "p.?" "" "0000831540" "00000264" "90" "1763" "-1" "1763" "-1" "c.1763-1G>C" "r.1763_1766del" "p.?" "" "0000831541" "00000264" "90" "2689" "0" "2691" "0" "c.2689_2691del" "r.(?)" "p.(Lys897del)" "" "0000831542" "00000264" "90" "2692" "-1" "2692" "-1" "c.2692-1G>A" "r.spl" "p.?" "" "0000831543" "00000264" "90" "1763" "-1" "1763" "-1" "c.1763-1G>C" "r.spl" "p.?" "" "0000831544" "00000264" "90" "1763" "-1" "1763" "-1" "c.1763-1G>C" "r.spl" "p.?" "" "0000831545" "00000264" "90" "1949" "-1" "1949" "-1" "c.1949-1G>A" "r.spl" "p.?" "" "0000831546" "00000264" "90" "1949" "-1" "1949" "-1" "c.1949-1G>A" "r.spl" "p.?" "" "0000831547" "00000264" "90" "2372" "0" "2372" "0" "c.2372G>A" "r.(?)" "p.(Arg791Gln)" "" "0000831548" "00000264" "90" "2507" "0" "2507" "0" "c.2507T>C" "r.(?)" "p.(Leu836Pro)" "" "0000831549" "00000264" "90" "2507" "0" "2507" "0" "c.2507T>C" "r.(?)" "p.(Leu836Pro)" "" "0000853373" "00000264" "50" "395" "0" "395" "0" "c.395C>T" "r.(?)" "p.(Ala132Val)" "" "0000853374" "00000264" "70" "1403" "0" "1403" "0" "c.1403dup" "r.(?)" "p.(Ser469Valfs*32)" "" "0000862959" "00000264" "70" "2266" "0" "2271" "4" "c.2266_2271+4dup" "r.spl?" "p.?" "" "0000890522" "00000264" "30" "-5" "20" "-5" "20" "c.-5+20C>T" "r.(=)" "p.(=)" "" "0000890523" "00000264" "10" "147" "0" "147" "0" "c.147G>A" "r.(?)" "p.(Gly49=)" "" "0000890524" "00000264" "30" "930" "0" "930" "0" "c.930G>A" "r.(?)" "p.(Glu310=)" "" "0000890525" "00000264" "30" "1242" "4" "1242" "4" "c.1242+4T>C" "r.spl?" "p.?" "" "0000890526" "00000264" "50" "2624" "0" "2624" "0" "c.2624C>T" "r.(?)" "p.(Pro875Leu)" "" "0000930076" "00000264" "50" "1177" "0" "1177" "0" "c.1177G>A" "r.(?)" "p.(Asp393Asn)" "" "0000930077" "00000264" "50" "1930" "0" "1930" "0" "c.1930G>A" "r.(?)" "p.(Val644Met)" "" "0000980225" "00000264" "50" "1376" "0" "1376" "0" "c.1376T>A" "r.(?)" "p.(Ile459Asn)" "" "0000980226" "00000264" "90" "1403" "0" "1403" "0" "c.1403dup" "r.(?)" "p.(Ser469Valfs*32)" "" "0000980227" "00000264" "30" "1876" "-6" "1876" "-6" "c.1876-6C>T" "r.(=)" "p.(=)" "" "0000999951" "00000264" "50" "1177" "0" "1177" "0" "c.1177G>A" "r.(?)" "p.(Asp393Asn)" "" "0000999952" "00000264" "50" "1930" "0" "1930" "0" "c.1930G>A" "r.(?)" "p.(Val644Met)" "" "0000999953" "00000264" "50" "2122" "0" "2122" "0" "c.2122C>T" "r.(?)" "p.(Pro708Ser)" "" "0000999954" "00000264" "50" "2436" "0" "2436" "0" "c.2436G>T" "r.(?)" "p.(Met812Ile)" "" "0000999955" "00000264" "70" "2692" "-1" "2692" "-1" "c.2692-1G>A" "r.spl?" "p.?" "" "0001014958" "00000264" "30" "639" "-6" "639" "-6" "c.639-6A>T" "r.(=)" "p.(=)" "" "0001014959" "00000264" "30" "916" "0" "916" "0" "c.916A>C" "r.(?)" "p.(=)" "" "0001039188" "00000264" "50" "1341" "0" "1341" "0" "c.1341G>T" "r.(?)" "p.(Leu447Phe)" "" "0001039189" "00000264" "30" "1693" "0" "1693" "0" "c.1693C>T" "r.(?)" "p.(His565Tyr)" "" "0001039190" "00000264" "50" "2564" "0" "2564" "0" "c.2564T>G" "r.(?)" "p.(Phe855Cys)" "" "0001054269" "00000264" "50" "167" "0" "167" "0" "c.167G>T" "r.(?)" "p.(Cys56Phe)" "" "0001054270" "00000264" "50" "1439" "0" "1439" "0" "c.1439A>G" "r.(?)" "p.(Asp480Gly)" "" "0001065716" "00000264" "50" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Cys)" "" "0001065717" "00000264" "50" "2405" "0" "2405" "0" "c.2405A>G" "r.(?)" "p.(Asn802Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 39 "{{screeningid}}" "{{variantid}}" "0000000194" "0000001469" "0000025476" "0000048357" "0000025476" "0000048358" "0000025477" "0000048359" "0000025477" "0000048360" "0000025478" "0000048361" "0000025478" "0000048362" "0000375903" "0000787580" "0000375903" "0000787581" "0000399173" "0000831518" "0000399173" "0000831519" "0000399174" "0000831520" "0000399175" "0000831521" "0000399176" "0000831522" "0000399176" "0000831523" "0000399180" "0000831526" "0000399180" "0000831541" "0000399181" "0000831527" "0000399181" "0000831542" "0000399182" "0000831528" "0000399182" "0000831543" "0000399183" "0000831529" "0000399183" "0000831544" "0000399184" "0000831530" "0000399184" "0000831545" "0000399185" "0000831531" "0000399185" "0000831546" "0000399186" "0000831532" "0000399186" "0000831547" "0000399187" "0000831533" "0000399188" "0000831534" "0000399189" "0000831535" "0000399190" "0000831536" "0000399191" "0000831537" "0000399191" "0000831548" "0000399192" "0000831538" "0000399192" "0000831549" "0000399193" "0000831539" "0000399194" "0000831540"