### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RNU4ATAC) # 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}}" "RNU4ATAC" "RNA, U4atac small nuclear (U12-dependent splicing)" "2" "q14.2" "unknown" "NG_029832.1" "UD_136090700180" "" "https://www.LOVD.nl/RNU4ATAC" "" "1" "34016" "100151683" "601428" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-02-02 17:36:19" "00000" "2025-07-08 13:22:38" ## 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}}" "00017971" "RNU4ATAC" "RNA, U4atac small nuclear (U12-dependent splicing)" "001" "NR_023343.1" "" "" "" "" "" "1" "130" "130" "122288456" "122288585" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01681" "MOPD1" "dwarfism, primordial, osteodysplastic, microcephalic, type 1 (MOPD-1, Taybi-Linder syndrome)" "AR" "210710" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05109" "JBTS" "Joubert syndrome (JBTS)" "" "" "" "" "" "00006" "2016-01-09 00:37:44" "" "" "05393" "RFMN" "Roifman syndrome (RFMN)" "AR" "616651" "" "autosomal recessive" "" "00006" "2018-02-02 17:30:39" "00006" "2021-12-10 21:51:32" "05421" "microcephaly" "microcephaly" "" "" "" "" "" "00006" "2018-04-15 11:41:15" "" "" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "05525" "MOPD" "dwarfism, primordial, osteodysplastic, microcephalic (MOPD)" "" "" "" "" "" "00006" "2018-12-01 16:39:22" "" "" "05526" "LWS" "Lowry Wood syndrome" "AR" "226960" "" "" "" "00006" "2018-12-02 16:33:06" "00006" "2025-05-06 15:28:42" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "RNU4ATAC" "01681" "RNU4ATAC" "05393" "RNU4ATAC" "05525" "RNU4ATAC" "05526" ## Individuals ## Do not remove or alter this header ## ## Count = 72 "{{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}}" "00151831" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "109859" "00207814" "00005525" "" "" "3" "" "00006" "{PMID:He 2011:21474760}" "7-generation family, 3 affected (6F), unaffected heterozygous carrier parents/relatives (linked to Fam2)" "F" "yes" "United States" "" "0" "" "" "Amish, Ohio" "21474760-Fam1" "00207815" "00005525" "" "" "3" "" "00006" "{PMID:He 2011:21474760}" "7-generation family, 3 affected (6F), unaffected heterozygous carrier parents/relatives (linked to Fam1)" "F" "yes" "United States" "" "0" "" "" "Amish, Ohio" "21474760-Fam2" "00207816" "00005525" "" "" "2" "" "00006" "{PMID:He 2011:21474760}" "3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "United States" "" "0" "" "" "Amish, Ohio" "21474760-Fam3" "00207817" "00005525" "" "" "1" "" "00006" "{PMID:He 2011:21474760}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "Amish, Ohio" "21474760-Fam4" "00207818" "00005525" "" "" "1" "" "00006" "{PMID:He 2011:21474760}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "Amish, Ohio" "21474760-Fam5" "00207819" "00005525" "" "" "1" "" "00006" "{PMID:He 2011:21474760}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "United States" "" "0" "" "" "Amish, Ohio" "21474760-Fam6" "00207820" "00005525" "" "" "1" "" "00006" "{PMID:He 2011:21474760}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "United States" "" "0" "" "" "Amish, Ohio" "21474760-Fam7" "00207821" "00005525" "" "" "1" "" "00006" "{PMID:He 2011:21474760}" "unaffected heterozygous carrier parents" "" "" "Australia" "" "0" "" "" "" "21474760-FamPat8" "00207822" "00005525" "" "" "1" "" "00006" "{PMID:He 2011:21474760}" "unaffected heterozygous carrier parents" "" "" "Germany" "" "0" "" "" "" "21474760-FamPat9" "00207823" "00005525" "" "" "1" "" "00006" "{PMID:He 2011:21474760}" "unaffected heterozygous carrier parents" "" "" "Germany" "" "0" "" "" "" "21474760-FamPat10" "00207824" "00005525" "" "" "2" "" "00006" "{PMID:Edery 2011:21474761}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "yes" "Algeria" "" "0" "" "" "" "21474761-Fam1" "00207825" "00005525" "" "" "1" "" "00006" "{PMID:Edery 2011:21474761}" "3-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Turkey" "" "0" "" "" "" "21474761-Fam2" "00207826" "00005525" "" "" "1" "" "00006" "{PMID:Edery 2011:21474761}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Morocco" "" "0" "" "" "" "21474761-Fam3" "00207827" "00005525" "" "" "2" "" "00006" "{PMID:Edery 2011:21474761}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "Morocco" "" "0" "" "" "" "21474761-Fam4" "00207828" "00005525" "" "" "1" "" "00006" "{PMID:Edery 2011:21474761}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "India" "" "0" "" "" "" "21474761-Fam5" "00207829" "00005525" "" "" "1" "" "00006" "{PMID:Edery 2011:21474761}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "white" "21474761-Fam6" "00207830" "00005525" "" "" "1" "" "00006" "{PMID:Edery 2011:21474761}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "white" "21474761-Fam7" "00207831" "00005525" "" "" "1" "" "00006" "{PMID:Edery 2011:21474761}" "2-generation family, 1 affected fetus, unaffected heterozygous carrier parents" "F" "" "Norway" "" "0" "" "" "" "21474761-Fam8" "00207832" "" "" "" "2" "" "00006" "{PMID:Merico 2015:26522830}" "2-generation family, affected brothers, unaffected heterozygous carrier parents/relatives" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "26522830-FamK1" "00207833" "" "" "" "1" "" "00006" "{PMID:Merico 2015:26522830}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Italy" "" "0" "" "" "" "26522830-FamK2" "00207834" "" "" "" "2" "" "00006" "{PMID:Merico 2015:26522830}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F;M" "no" "Lebanon" "" "0" "" "" "" "26522830-FamK3" "00207835" "" "" "" "1" "" "00006" "{PMID:Merico 2015:26522830}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Albania" "" "0" "" "" "" "26522830-FamK4" "00207836" "" "" "" "1" "" "00006" "{PMID:Abdel-Salam 2012:22581640}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "no" "Egypt" "" "0" "" "" "" "22581640-Fam1Pat1" "00207837" "" "" "" "2" "" "00006" "{PMID:Abdel-Salam 2012:22581640}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F;M" "yes" "Yemen" "" "0" "" "" "" "22581640-Fam2Pat2/3" "00207838" "" "" "" "1" "" "00006" "{PMID:Nagy 2012:21815888}" "" "F" "" "United States" "1y6m" "0" "" "" "Amish" "21815888-Pat1" "00207839" "" "" "" "1" "" "00006" "{PMID:Nagy 2012:21815888}" "" "F" "" "United States" "3m15d" "0" "" "" "Amish" "21815888-Pat2" "00207840" "" "" "" "1" "" "00006" "{PMID:Nagy 2012:21815888}" "" "F" "" "United States" "2m23d" "0" "" "" "Amish" "21815888-Pat3" "00207841" "" "" "" "1" "" "00006" "{PMID:Nagy 2012:21815888}" "" "F" "" "United States" "10m" "0" "" "" "Amish" "21815888-Pat4" "00207842" "" "" "" "1" "" "00006" "{PMID:Nagy 2012:21815888}" "" "M" "" "United States" "9m15d" "0" "" "" "Amish" "21815888-Pat5" "00207843" "" "" "" "1" "" "00006" "{PMID:Nagy 2012:21815888}" "" "F" "" "United States" "" "0" "" "" "Amish" "21815888-Pat6" "00207844" "" "" "" "1" "" "00006" "{PMID:Nagy 2012:21815888}" "" "" "" "United States" "" "0" "" "" "Amish" "21815888-Pat7" "00207845" "" "" "" "1" "" "00006" "{PMID:Nagy 2012:21815888}" "" "" "" "United States" "" "0" "" "" "Amish" "21815888-Pat8" "00207846" "" "" "" "1" "" "00006" "{PMID:Nagy 2012:21815888}" "" "M" "" "United States" "10m" "0" "" "" "Amish" "21815888-Pat9" "00207847" "" "" "" "1" "" "00006" "{PMID:Nagy 2012:21815888}" "" "F" "" "United States" "10m" "0" "" "" "Amish" "21815888-Pat10" "00207848" "" "" "" "1" "" "00006" "{PMID:Nagy 2012:21815888}" "" "F" "" "United States" "4m15d" "0" "" "" "Amish" "21815888-Pat11" "00207849" "" "" "" "1" "" "00006" "{PMID:Nagy 2012:21815888}" "" "F" "" "United States" "8m15d" "0" "" "" "Amish" "21815888-Pat12" "00207850" "" "" "" "1" "" "00006" "{PMID:Nagy 2012:21815888}" "" "F" "" "United States" ">1y" "0" "" "" "Amish" "21815888-Pat13" "00207851" "" "" "" "1" "" "00006" "{PMID:Nagy 2012:21815888}" "" "F" "" "United States" "8m15d" "0" "" "" "Amish" "21815888-Pat14" "00207852" "" "" "" "1" "" "00006" "{PMID:Nagy 2012:21815888}, Haan 1989" "" "M" "" "Malta" "1m" "0" "" "" "" "21815888-Pat15" "00207853" "" "" "" "1" "" "00006" "{PMID:Nagy 2012:21815888}" "" "F" "" "Germany" ">9y" "0" "" "" "" "21815888-Pat16" "00207854" "" "" "" "1" "" "00006" "{PMID:Nagy 2012:21815888},Klinge 2002" "" "M" "" "Germany" ">12y9m" "0" "" "" "" "21815888-Pat17" "00207855" "" "" "" "1" "" "00006" "{PMID:Abdel-Salam 2011:21990275}" "4-generation family, affected brothers, unaffected heterozygous carrier parents/relatives" "M" "yes" "Egypt" "" "0" "" "" "" "21990275-Fam1PatIV2/3" "00207856" "" "" "" "2" "" "00006" "{PMID:Abdel-Salam 2013:23794361}" "2-generation family, affected brothers, unaffected heterozygous carrier parents" "M" "" "Egypt" "" "0" "" "" "" "23794361-Fam1Pat1/2" "00207857" "" "" "" "1" "" "00006" "{PMID:Abdel-Salam 2013:23794361}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Egypt" "" "0" "" "" "" "23794361-Fam2Pat3" "00207858" "" "" "" "2" "" "00006" "{PMID:Abdel-Salam 2013:23794361}" "2-generation family, affected sisters, unaffected heterozygous carrier parents" "F" "yes" "Egypt" "" "0" "" "" "" "23794361-Fam3Pat4/5" "00207859" "" "" "" "1" "" "00006" "{PMID:Kilic 2015:25735804}" "" "M" "yes" "Turkey" ">03y" "0" "" "" "" "25735804-Fam1Pat1" "00207860" "" "" "" "1" "" "00006" "{PMID:Abdel-Salam 2016:26419500}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Egypt" ">18y" "0" "" "" "" "26419500-FamPat1" "00207861" "" "" "" "2" "" "00006" "{PMID:Kroigard 2016:26641461}, {PMID:Kroigard 2016:27591150}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F;M" "no" "New Zealand" "" "0" "" "" "" "26641461-FamPat1/2" "00207862" "" "" "" "1" "" "00006" "{PMID:Putoux 2016:27040866}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "India" "" "0" "" "" "" "21815888-Pat1" "00207863" "" "" "" "1" "" "00006" "{PMID:Putoux 2016:27040866}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Malta" "" "0" "" "" "" "21815888-Pat2" "00207864" "" "" "" "1" "" "00006" "{PMID:Putoux 2016:27040866}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Turkey" "" "0" "" "" "" "21815888-Pat3" "00207865" "" "" "" "1" "" "00006" "{PMID:Putoux 2016:27040866}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Rwanda" "" "0" "" "" "" "21815888-Pat4" "00207866" "" "" "" "1" "" "00006" "{PMID:Putoux 2016:27040866}" "2-generation family, affected fetus, unaffected heterozygous carrier parents" "" "" "France" "" "0" "" "" "" "21815888-Fet1" "00207867" "" "" "" "1" "" "00006" "{PMID:Putoux 2016:27040866}" "2-generation family, affected fetus, unaffected heterozygous carrier parents" "" "" "Netherlands" "" "0" "" "" "" "21815888-Fet2" "00207868" "" "" "" "2" "" "00006" "{PMID:Putoux 2016:27040866}" "2-generation family, affected twin fetuses, unaffected heterozygous carrier parents" "" "" "France" "" "0" "" "" "" "21815888-Fet3/4" "00207869" "" "" "" "1" "" "00006" "{PMID:Ferrell 2016:27312855}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "United States" "" "0" "" "" "" "27312855-FamPat" "00207870" "" "" "" "2" "" "00006" "{PMID:Bogaert 2017:28623346}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "F;M" "no" "Belgium" "" "0" "" "" "" "28623346-Fam2PatII1/2" "00207872" "" "" "" "1" "" "00006" "{PMID:Lionel 2018:28771251}" "" "M" "no" "Canada" "" "0" "" "" "" "28771251-Pat5" "00207873" "" "" "" "1" "" "00006" "{PMID:Dinur Schejter 2018:29263834}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "Pakistan" "" "0" "" "" "" "29263834-FamK1PatIII3" "00207874" "" "" "" "1" "" "00006" "{PMID:Dinur Schejter 2018:29263834}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "India" "" "0" "" "" "Tamil" "29263834-FamK2PatII1" "00207875" "" "" "" "1" "" "00006" "{PMID:Farach 2018:29265708}" "adopted child" "F" "" "" "" "0" "" "" "" "29265708-Pat1" "00207876" "" "" "" "2" "" "00006" "{PMID:Farach 2018:29265708}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "F;M" "no" "" "" "0" "" "" "" "29265708-FamPat2/3" "00207877" "" "" "" "1" "" "00006" "{PMID:Wang 2018:29370840}" "2-generation family, 2 affected fetuses, unaffected heterozygous carrier parents" "" "no" "China" "" "0" "" "" "north" "29370840-FamFet1/2" "00207878" "" "" "" "1" "" "00006" "{PMID:Shelihan 2018:30368667}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "no" "Italy" "" "0" "" "" "" "30368667-Pat1" "00207879" "" "" "" "1" "" "00006" "{PMID:Shelihan 2018:30368667}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "no" "Italy" "" "0" "" "" "" "30368667-Pat2" "00207880" "" "" "" "1" "" "00006" "{PMID:Hallermayr 2018:30455926}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Germany" "" "0" "" "" "" "30455926-Pat1" "00331554" "" "" "" "3" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 3 affected (F, 2M)" "F;M" "yes" "" "" "0" "" "" "Arab" "10DG0295 , 10DG0296, 10DG0297" "00447204" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "M" "" "Germany" "" "0" "" "" "" "MISC-293" "00465288" "" "" "" "1" "" "04682" "" "" "" "" "" "" "" "" "" "" "" "00465289" "" "" "" "1" "" "04682" "" "" "" "" "" "" "" "" "" "" "" "00465290" "" "" "" "1" "" "04682" "" "" "" "" "" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 72 "{{individualid}}" "{{diseaseid}}" "00151831" "05393" "00207814" "05525" "00207815" "05525" "00207816" "05525" "00207817" "05525" "00207818" "05525" "00207819" "05525" "00207820" "05525" "00207821" "05525" "00207822" "05525" "00207823" "05525" "00207824" "05525" "00207825" "05525" "00207826" "05525" "00207827" "05525" "00207828" "05525" "00207829" "05525" "00207830" "05525" "00207831" "05525" "00207832" "05393" "00207833" "05393" "00207834" "05393" "00207835" "05393" "00207836" "05525" "00207837" "05525" "00207838" "05525" "00207839" "05525" "00207840" "05525" "00207841" "05525" "00207842" "05525" "00207843" "05525" "00207844" "05525" "00207845" "05525" "00207846" "05525" "00207847" "05525" "00207848" "05525" "00207849" "05525" "00207850" "05525" "00207851" "05525" "00207852" "05525" "00207853" "05525" "00207854" "05525" "00207855" "05525" "00207856" "05525" "00207857" "05525" "00207858" "05525" "00207859" "05525" "00207860" "05525" "00207861" "00198" "00207862" "05525" "00207863" "05525" "00207864" "05525" "00207865" "05525" "00207866" "05525" "00207867" "05525" "00207868" "05525" "00207869" "05525" "00207870" "05525" "00207872" "00198" "00207873" "05525" "00207874" "05525" "00207875" "05526" "00207876" "05526" "00207877" "05421" "00207878" "05526" "00207879" "05526" "00207880" "05525" "00331554" "05517" "00447204" "00198" "00465288" "05109" "00465289" "05109" "00465290" "05109" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01681, 05109, 05393, 05421, 05517, 05525, 05526 ## Count = 69 "{{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}}" "0000125491" "05393" "00151831" "01164" "Familial, autosomal recessive" "00y" "Hepatomegaly, neonatal jaundice, short stature, Intrauterine growth restriction (IUGR), recurrent infections, Eczema, Hypotonia" "" "05y" "neonatal jaundice" "" "" "" "" "" "" "syndrome, Roifman" "" "0000155598" "05525" "00207814" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "MOPD-1" "microcephalic osteodysplastic primordial dwarfism" "" "0000155599" "05525" "00207815" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "MOPD-1" "microcephalic osteodysplastic primordial dwarfism" "" "0000155600" "05525" "00207816" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "MOPD-1" "microcephalic osteodysplastic primordial dwarfism" "" "0000155601" "05525" "00207817" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "MOPD-1" "microcephalic osteodysplastic primordial dwarfism" "" "0000155602" "05525" "00207818" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "MOPD-1" "microcephalic osteodysplastic primordial dwarfism" "" "0000155603" "05525" "00207819" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "MOPD-1" "microcephalic osteodysplastic primordial dwarfism" "" "0000155604" "05525" "00207820" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "MOPD-1" "microcephalic osteodysplastic primordial dwarfism" "" "0000155605" "05525" "00207821" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "MOPD-1" "microcephalic osteodysplastic primordial dwarfism" "" "0000155606" "05525" "00207822" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "MOPD-1" "microcephalic osteodysplastic primordial dwarfism" "" "0000155607" "05525" "00207823" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "MOPD-1" "microcephalic osteodysplastic primordial dwarfism" "" "0000155608" "05525" "00207824" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "MOPD-1" "Taybi-Linder syndrome" "" "0000155609" "05525" "00207825" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "MOPD-1" "Taybi-Linder syndrome" "" "0000155610" "05525" "00207826" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "MOPD-1" "Taybi-Linder syndrome" "" "0000155611" "05525" "00207827" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "MOPD-1" "Taybi-Linder syndrome" "" "0000155612" "05525" "00207828" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "MOPD-1" "Taybi-Linder syndrome" "" "0000155613" "05525" "00207829" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "MOPD-1" "Taybi-Linder syndrome" "" "0000155614" "05525" "00207830" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "MOPD-1" "Taybi-Linder syndrome" "" "0000155615" "05525" "00207831" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "MOPD-1" "Taybi-Linder syndrome" "" "0000155616" "05393" "00207832" "00006" "Familial, autosomal recessive" "" "see paper; markedly long philtrum with thin upper lip, narrow, tubular and upturned nose with hypoplastic alae nasi, widely spaced eyes with long palpebral fissures, prominent lashes, ..." "" "" "" "" "" "" "" "" "RFMN" "Roifman syndrome" "" "0000155617" "05393" "00207833" "00006" "Familial, autosomal recessive" "" "see paper; markedly long philtrum with thin upper lip, narrow, tubular and upturned nose with hypoplastic alae nasi, widely spaced eyes with long palpebral fissures, prominent lashes, ..." "" "" "" "" "" "" "" "" "RFMN" "Roifman syndrome" "" "0000155618" "05393" "00207834" "00006" "Familial, autosomal recessive" "" "see paper; markedly long philtrum with thin upper lip, narrow, tubular and upturned nose with hypoplastic alae nasi, widely spaced eyes with long palpebral fissures, prominent lashes, ..." "" "" "" "" "" "" "" "" "RFMN" "Roifman syndrome" "" "0000155619" "05393" "00207835" "00006" "Familial, autosomal recessive" "" "see paper; markedly long philtrum with thin upper lip, narrow, tubular and upturned nose with hypoplastic alae nasi, widely spaced eyes with long palpebral fissures, prominent lashes, ..." "" "" "" "" "" "" "" "" "RFMN" "Roifman syndrome" "" "0000155620" "05525" "00207836" "00006" "Familial, autosomal recessive" "" "see paper; no severe developmental delay, no neurological symptoms, ..." "" "" "" "" "" "" "" "" "MOPD-1" "" "" "0000155621" "05525" "00207837" "00006" "Familial, autosomal recessive" "" "see paper; no severe developmental delay, no neurological symptoms, ..." "" "" "" "" "" "" "" "" "MOPD-1" "" "" "0000155622" "05525" "00207838" "00006" "Familial, autosomal recessive" "" "microcephaly (HP:0000252); typical face; musculoskeletal features" "" "" "" "" "" "" "" "" "MOPD-1" "MOPD" "" "0000155623" "05525" "00207839" "00006" "Familial, autosomal recessive" "" "microcephaly (HP:0000252); typical face; musculoskeletal features" "" "" "" "" "" "" "" "" "MOPD-1" "MOPD" "" "0000155624" "05525" "00207840" "00006" "Familial, autosomal recessive" "" "microcephaly (HP:0000252); typical face; musculoskeletal features; skin/hair features" "" "" "" "" "" "" "" "" "MOPD-1" "MOPD" "" "0000155625" "05525" "00207841" "00006" "Familial, autosomal recessive" "" "microcephaly (HP:0000252); typical face; musculoskeletal features; radiographic findings; no other organ anomalies; skin/hair features" "" "" "" "" "" "" "" "" "MOPD-1" "MOPD" "" "0000155626" "05525" "00207842" "00006" "Familial, autosomal recessive" "" "microcephaly (HP:0000252); typical face; musculoskeletal features; no other organ anomalies; skin/hair features" "" "" "" "" "" "" "" "" "MOPD-1" "MOPD" "" "0000155627" "05525" "00207843" "00006" "Familial, autosomal recessive" "" "microcephaly (HP:0000252); typical face; musculoskeletal features" "" "" "" "" "" "" "" "" "MOPD-1" "MOPD" "" "0000155628" "05525" "00207844" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MOPD-1" "MOPD" "" "0000155629" "05525" "00207845" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MOPD-1" "MOPD" "" "0000155630" "05525" "00207846" "00006" "Familial, autosomal recessive" "" "microcephaly (HP:0000252); typical brain anomalies; typical face; musculoskeletal features; radiographic findings; no other organ anomalies; skin/hair features" "" "" "" "" "" "" "" "" "MOPD-1" "MOPD" "" "0000155631" "05525" "00207847" "00006" "Familial, autosomal recessive" "" "microcephaly (HP:0000252); typical brain anomalies; typical face; musculoskeletal features; radiographic findings; no other organ anomalies; skin/hair featuresm" "" "" "" "" "" "" "" "" "MOPD-1" "MOPD" "" "0000155632" "05525" "00207848" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MOPD-1" "MOPD" "" "0000155633" "05525" "00207849" "00006" "Familial, autosomal recessive" "" "microcephaly (HP:0000252); typical brain anomalies; typical face; musculoskeletal features; no other organ anomalies; skin/hair features" "" "" "" "" "" "" "" "" "MOPD-1" "MOPD" "" "0000155634" "05525" "00207850" "00006" "Familial, autosomal recessive" "" "microcephaly (HP:0000252); typical brain anomalies; typical face; musculoskeletal features; radiographic findings; no other organ anomalies; skin/hair features" "" "" "" "" "" "" "" "" "MOPD-1" "MOPD" "" "0000155635" "05525" "00207851" "00006" "Familial, autosomal recessive" "" "microcephaly (HP:0000252); typical face; musculoskeletal features; hydrocephaly; skin/hair features" "" "" "" "" "" "" "" "" "MOPD-1" "MOPD" "" "0000155636" "05525" "00207852" "00006" "Familial, autosomal recessive" "" "microcephaly (HP:0000252); typical brain anomalies; typical face; musculoskeletal features; radiographic findings; bilateral cryptorchidism; skin/hair features" "" "" "" "" "" "" "" "" "MOPD-1" "MOPD" "" "0000155637" "05525" "00207853" "00006" "Familial, autosomal recessive" "" "microcephaly (HP:0000252); typical brain anomalies; typical face; no musculoskeletal features; skin/hair features" "" "" "" "" "" "" "" "" "MOPD-1" "MOPD" "" "0000155638" "05525" "00207854" "00006" "Familial, autosomal recessive" "" "microcephaly (HP:0000252); typical brain anomalies; typical face; musculoskeletal features; radiographic findings; bilateral cryptorchidism; 2y-acute lymphocytic leukemia; skin/hair features" "" "" "" "" "" "" "" "" "MOPD-1" "MOPD" "" "0000155639" "05525" "00207855" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MOPD-1" "microcephaly, seizures, developmental delay" "" "0000155640" "05525" "00207856" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MOPD-1" "microcephaly, seizures, developmental delay" "" "0000155641" "05525" "00207857" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MOPD-1" "microcephaly, seizures, developmental delay" "" "0000155642" "05525" "00207858" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MOPD-1" "microcephaly, seizures, developmental delay" "" "0000155643" "05525" "00207859" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MOPD-1" "microcephaly, seizures, developmental delay" "" "0000155644" "05525" "00207860" "00006" "Familial, autosomal recessive" "18y" "see paper; ..." "" "" "" "" "" "" "" "" "MOPD-1" "microcephaly, seizures, developmental delay" "" "0000155645" "00198" "00207861" "00006" "Familial, autosomal recessive" "" "see paper; prenatal and postnatal growth retardation, microcephaly, developmental delay, cataract, hearing loss, dysmorphic features, ..." "" "" "" "" "" "" "" "" "MOPD-1" "" "" "0000155646" "05525" "00207862" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "MOPD-1" "Taybi-Linder syndrome" "" "0000155647" "05525" "00207863" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "MOPD-1" "Taybi-Linder syndrome" "" "0000155648" "05525" "00207864" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "MOPD-1" "Taybi-Linder syndrome" "" "0000155649" "05525" "00207865" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "MOPD-1" "Taybi-Linder syndrome" "" "0000155650" "05525" "00207866" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "MOPD-1" "Taybi-Linder syndrome" "" "0000155651" "05525" "00207867" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "MOPD-1" "Taybi-Linder syndrome" "" "0000155652" "05525" "00207868" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "MOPD-1" "Taybi-Linder syndrome" "" "0000155653" "05525" "00207869" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MOPD-1" "microcephaly, seizures, developmental delay" "" "0000155654" "05525" "00207870" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MOPD-1" "" "" "0000155656" "00198" "00207872" "00006" "Familial, autosomal recessive" "" "rod-cone dystrophy; microcephaly; short stature; cognitive impairment; abnormality of epiphysis morphology" "" "" "" "" "" "" "" "" "MOPD-1" "" "" "0000155657" "05525" "00207873" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MOPD-1" "microcephaly, seizures, developmental delay" "" "0000155658" "05525" "00207874" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MOPD-1" "microcephaly, seizures, developmental delay" "" "0000155659" "05526" "00207875" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MOPD-1" "Lowry Wood syndrome" "" "0000155660" "05526" "00207876" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MOPD-1" "Lowry Wood syndrome" "" "0000155661" "05421" "00207877" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MOPD-1" "microcephaly" "" "0000155662" "05526" "00207878" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MOPD-1" "Lowry Wood syndrome" "" "0000155663" "05526" "00207879" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MOPD-1" "Lowry Wood syndrome" "" "0000155664" "05525" "00207880" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MOPD-1" "Roifman syndrome" "" "0000249746" "05517" "00331554" "00000" "Familial, autosomal recessive" "" "Short stature, Congenital microcephaly, Intellectual disability, Hydronephrosis, Ichthyosis No" "" "" "" "" "" "" "" "" "Slender bone dysplasia group" "skeletal dysplasia" "" "0000336403" "00198" "00447204" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "eye diseaes" "" ## Screenings ## Do not remove or alter this header ## ## Count = 72 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000152688" "00151831" "1" "01164" "01164" "2018-01-26 16:29:25" "" "" "SEQ-NG-I" "DNA" "EDTA blood" "" "0000208856" "00207814" "1" "00006" "00006" "2018-12-01 16:54:10" "" "" "SEQ" "DNA" "" "" "0000208857" "00207815" "1" "00006" "00006" "2018-12-01 16:54:10" "" "" "SEQ" "DNA" "" "" "0000208858" "00207816" "1" "00006" "00006" "2018-12-01 16:54:10" "" "" "SEQ" "DNA" "" "" "0000208859" "00207817" "1" "00006" "00006" "2018-12-01 16:54:10" "" "" "SEQ" "DNA" "" "" "0000208860" "00207818" "1" "00006" "00006" "2018-12-01 16:54:10" "" "" "SEQ" "DNA" "" "" "0000208861" "00207819" "1" "00006" "00006" "2018-12-01 16:54:10" "" "" "SEQ" "DNA" "" "" "0000208862" "00207820" "1" "00006" "00006" "2018-12-01 16:54:10" "" "" "SEQ" "DNA" "" "" "0000208863" "00207821" "1" "00006" "00006" "2018-12-01 16:54:10" "" "" "SEQ" "DNA" "" "" "0000208864" "00207822" "1" "00006" "00006" "2018-12-01 16:54:10" "" "" "SEQ" "DNA" "" "" "0000208865" "00207823" "1" "00006" "00006" "2018-12-01 16:54:10" "" "" "SEQ" "DNA" "" "" "0000208866" "00207824" "1" "00006" "00006" "2018-12-01 17:42:50" "" "" "SEQ" "DNA" "" "" "0000208867" "00207825" "1" "00006" "00006" "2018-12-01 17:42:50" "" "" "SEQ" "DNA" "" "" "0000208868" "00207826" "1" "00006" "00006" "2018-12-01 17:42:50" "" "" "SEQ" "DNA" "" "" "0000208869" "00207827" "1" "00006" "00006" "2018-12-01 17:42:50" "" "" "SEQ" "DNA" "" "" "0000208870" "00207828" "1" "00006" "00006" "2018-12-01 17:42:50" "" "" "SEQ" "DNA" "" "" "0000208871" "00207829" "1" "00006" "00006" "2018-12-01 17:42:50" "" "" "SEQ" "DNA" "" "" "0000208872" "00207830" "1" "00006" "00006" "2018-12-01 17:42:50" "" "" "SEQ" "DNA" "" "" "0000208873" "00207831" "1" "00006" "00006" "2018-12-01 17:42:50" "" "" "SEQ" "DNA" "" "" "0000208874" "00207832" "1" "00006" "00006" "2018-12-01 18:25:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000208875" "00207833" "1" "00006" "00006" "2018-12-01 18:30:52" "" "" "SEQ" "DNA" "" "" "0000208876" "00207834" "1" "00006" "00006" "2018-12-01 18:35:46" "" "" "SEQ" "DNA" "" "" "0000208877" "00207835" "1" "00006" "00006" "2018-12-01 18:40:04" "" "" "SEQ" "DNA" "" "" "0000208878" "00207836" "1" "00006" "00006" "2018-12-02 10:29:25" "" "" "SEQ" "DNA" "" "" "0000208879" "00207837" "1" "00006" "00006" "2018-12-02 10:34:52" "" "" "SEQ" "DNA" "" "" "0000208880" "00207838" "1" "00006" "00006" "2018-12-02 14:22:28" "" "" "SEQ" "DNA" "" "" "0000208881" "00207839" "1" "00006" "00006" "2018-12-02 14:22:28" "" "" "SEQ" "DNA" "" "" "0000208882" "00207840" "1" "00006" "00006" "2018-12-02 14:22:28" "" "" "SEQ" "DNA" "" "" "0000208883" "00207841" "1" "00006" "00006" "2018-12-02 14:22:28" "" "" "SEQ" "DNA" "" "" "0000208884" "00207842" "1" "00006" "00006" "2018-12-02 14:22:28" "" "" "SEQ" "DNA" "" "" "0000208885" "00207843" "1" "00006" "00006" "2018-12-02 14:22:28" "" "" "SEQ" "DNA" "" "" "0000208886" "00207844" "1" "00006" "00006" "2018-12-02 14:22:28" "" "" "SEQ" "DNA" "" "" "0000208887" "00207845" "1" "00006" "00006" "2018-12-02 14:22:28" "" "" "SEQ" "DNA" "" "" "0000208888" "00207846" "1" "00006" "00006" "2018-12-02 14:22:28" "" "" "SEQ" "DNA" "" "" "0000208889" "00207847" "1" "00006" "00006" "2018-12-02 14:22:28" "" "" "SEQ" "DNA" "" "" "0000208890" "00207848" "1" "00006" "00006" "2018-12-02 14:22:28" "" "" "SEQ" "DNA" "" "" "0000208891" "00207849" "1" "00006" "00006" "2018-12-02 14:22:28" "" "" "SEQ" "DNA" "" "" "0000208892" "00207850" "1" "00006" "00006" "2018-12-02 14:22:28" "" "" "SEQ" "DNA" "" "" "0000208893" "00207851" "1" "00006" "00006" "2018-12-02 14:22:28" "" "" "SEQ" "DNA" "" "" "0000208894" "00207852" "1" "00006" "00006" "2018-12-02 14:22:28" "" "" "SEQ" "DNA" "" "" "0000208895" "00207853" "1" "00006" "00006" "2018-12-02 14:22:28" "" "" "SEQ" "DNA" "" "" "0000208896" "00207854" "1" "00006" "00006" "2018-12-02 14:22:28" "" "" "SEQ" "DNA" "" "" "0000208897" "00207855" "1" "00006" "00006" "2018-12-02 14:31:40" "" "" "SEQ" "DNA" "" "" "0000208898" "00207856" "1" "00006" "00006" "2018-12-02 14:38:26" "" "" "SEQ" "DNA" "" "" "0000208899" "00207857" "1" "00006" "00006" "2018-12-02 14:41:18" "" "" "SEQ" "DNA" "" "" "0000208900" "00207858" "1" "00006" "00006" "2018-12-02 14:43:42" "" "" "SEQ" "DNA" "" "" "0000208901" "00207859" "1" "00006" "00006" "2018-12-02 14:48:15" "" "" "SEQ" "DNA" "" "" "0000208902" "00207860" "1" "00006" "00006" "2018-12-02 14:52:29" "" "" "SEQ" "DNA" "" "" "0000208903" "00207861" "1" "00006" "00006" "2018-12-02 14:57:08" "" "" "SEQ" "DNA" "" "" "0000208904" "00207862" "1" "00006" "00006" "2018-12-02 15:12:37" "" "" "SEQ" "DNA" "" "" "0000208905" "00207863" "1" "00006" "00006" "2018-12-02 15:12:37" "" "" "SEQ" "DNA" "" "" "0000208906" "00207864" "1" "00006" "00006" "2018-12-02 15:12:37" "" "" "SEQ" "DNA" "" "" "0000208907" "00207865" "1" "00006" "00006" "2018-12-02 15:12:37" "" "" "SEQ" "DNA" "" "" "0000208908" "00207866" "1" "00006" "00006" "2018-12-02 15:12:37" "" "" "SEQ" "DNA" "" "" "0000208909" "00207867" "1" "00006" "00006" "2018-12-02 15:12:37" "" "" "SEQ" "DNA" "" "" "0000208910" "00207868" "1" "00006" "00006" "2018-12-02 15:12:37" "" "" "SEQ" "DNA" "" "" "0000208911" "00207869" "1" "00006" "00006" "2018-12-02 15:26:37" "" "" "SEQ" "DNA" "" "" "0000208912" "00207870" "1" "00006" "00006" "2018-12-02 15:35:29" "00006" "2018-12-02 15:57:50" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000208914" "00207872" "1" "00006" "00006" "2018-12-02 15:54:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000208915" "00207873" "1" "00006" "00006" "2018-12-02 16:01:33" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000208916" "00207874" "1" "00006" "00006" "2018-12-02 16:26:20" "" "" "SEQ" "DNA" "" "" "0000208917" "00207875" "1" "00006" "00006" "2018-12-02 16:36:23" "" "" "SEQ" "DNA" "" "" "0000208918" "00207876" "1" "00006" "00006" "2018-12-02 16:40:33" "" "" "SEQ" "DNA" "" "" "0000208919" "00207877" "1" "00006" "00006" "2018-12-02 16:49:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES, RNU4ATAC" "0000208920" "00207878" "1" "00006" "00006" "2018-12-02 16:56:20" "" "" "SEQ" "DNA" "" "" "0000208921" "00207879" "1" "00006" "00006" "2018-12-02 17:00:19" "" "" "SEQ" "DNA" "" "" "0000208922" "00207880" "1" "00006" "00006" "2018-12-02 17:06:21" "" "" "SEQ" "DNA" "" "" "0000332773" "00331554" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000448781" "00447204" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000466936" "00465288" "1" "04682" "04682" "2025-05-06 13:16:29" "" "" "SEQ-NG-I" "DNA" "" "" "0000466937" "00465289" "1" "04682" "04682" "2025-05-06 13:21:18" "" "" "SEQ-NG-I" "DNA" "" "" "0000466938" "00465290" "1" "04682" "04682" "2025-05-06 13:24:27" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 68 "{{screeningid}}" "{{geneid}}" "0000152688" "RNU4ATAC" "0000208856" "RNU4ATAC" "0000208857" "RNU4ATAC" "0000208858" "RNU4ATAC" "0000208859" "RNU4ATAC" "0000208860" "RNU4ATAC" "0000208861" "RNU4ATAC" "0000208862" "RNU4ATAC" "0000208863" "RNU4ATAC" "0000208864" "RNU4ATAC" "0000208865" "RNU4ATAC" "0000208866" "RNU4ATAC" "0000208867" "RNU4ATAC" "0000208868" "RNU4ATAC" "0000208869" "RNU4ATAC" "0000208870" "RNU4ATAC" "0000208871" "RNU4ATAC" "0000208872" "RNU4ATAC" "0000208873" "RNU4ATAC" "0000208874" "RNU4ATAC" "0000208875" "RNU4ATAC" "0000208876" "RNU4ATAC" "0000208877" "RNU4ATAC" "0000208878" "RNU4ATAC" "0000208879" "RNU4ATAC" "0000208880" "RNU4ATAC" "0000208881" "RNU4ATAC" "0000208882" "RNU4ATAC" "0000208883" "RNU4ATAC" "0000208884" "RNU4ATAC" "0000208885" "RNU4ATAC" "0000208886" "RNU4ATAC" "0000208887" "RNU4ATAC" "0000208888" "RNU4ATAC" "0000208889" "RNU4ATAC" "0000208890" "RNU4ATAC" "0000208891" "RNU4ATAC" "0000208892" "RNU4ATAC" "0000208893" "RNU4ATAC" "0000208894" "RNU4ATAC" "0000208895" "RNU4ATAC" "0000208896" "RNU4ATAC" "0000208897" "RNU4ATAC" "0000208898" "RNU4ATAC" "0000208899" "RNU4ATAC" "0000208900" "RNU4ATAC" "0000208901" "RNU4ATAC" "0000208902" "RNU4ATAC" "0000208903" "RNU4ATAC" "0000208904" "RNU4ATAC" "0000208905" "RNU4ATAC" "0000208906" "RNU4ATAC" "0000208907" "RNU4ATAC" "0000208908" "RNU4ATAC" "0000208909" "RNU4ATAC" "0000208910" "RNU4ATAC" "0000208911" "RNU4ATAC" "0000208912" "RNU4ATAC" "0000208914" "RNU4ATAC" "0000208915" "RNU4ATAC" "0000208916" "RNU4ATAC" "0000208917" "RNU4ATAC" "0000208918" "RNU4ATAC" "0000208919" "RNU4ATAC" "0000208920" "RNU4ATAC" "0000208921" "RNU4ATAC" "0000208922" "RNU4ATAC" "0000332773" "RNU4ATAC" ## 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 = 132 "{{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}}" "0000351690" "11" "90" "2" "122288468" "122288468" "subst" "0.000368171" "01164" "RNU4ATAC_000001" "g.122288468C>T" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.121530892C>T" "" "pathogenic" "ACMG" "0000351692" "21" "90" "2" "122288571" "122288571" "subst" "7.9628E-6" "01164" "RNU4ATAC_000002" "g.122288571A>C" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.121530995A>C" "" "pathogenic" "ACMG" "0000438863" "3" "90" "2" "122288506" "122288506" "subst" "0.00044569" "00006" "RNU4ATAC_000005" "g.122288506G>A" "" "{PMID:He 2011:21474760}" "" "" "" "Germline" "" "" "0" "" "" "g.121530930G>A" "" "pathogenic (recessive)" "" "0000438864" "3" "90" "2" "122288506" "122288506" "subst" "0.00044569" "00006" "RNU4ATAC_000005" "g.122288506G>A" "" "{PMID:He 2011:21474760}" "" "" "" "Germline" "" "" "0" "" "" "g.121530930G>A" "" "pathogenic (recessive)" "" "0000438865" "3" "90" "2" "122288506" "122288506" "subst" "0.00044569" "00006" "RNU4ATAC_000005" "g.122288506G>A" "" "{PMID:He 2011:21474760}" "" "" "" "Germline" "" "" "0" "" "" "g.121530930G>A" "" "pathogenic (recessive)" "" "0000438866" "3" "90" "2" "122288506" "122288506" "subst" "0.00044569" "00006" "RNU4ATAC_000005" "g.122288506G>A" "" "{PMID:He 2011:21474760}" "" "" "" "Germline" "" "" "0" "" "" "g.121530930G>A" "" "pathogenic (recessive)" "" "0000438867" "3" "90" "2" "122288506" "122288506" "subst" "0.00044569" "00006" "RNU4ATAC_000005" "g.122288506G>A" "" "{PMID:He 2011:21474760}" "" "" "" "Germline" "" "" "0" "" "" "g.121530930G>A" "" "pathogenic (recessive)" "" "0000438868" "3" "90" "2" "122288506" "122288506" "subst" "0.00044569" "00006" "RNU4ATAC_000005" "g.122288506G>A" "" "{PMID:He 2011:21474760}" "" "" "" "Germline" "" "" "0" "" "" "g.121530930G>A" "" "pathogenic (recessive)" "" "0000438869" "3" "90" "2" "122288506" "122288506" "subst" "0.00044569" "00006" "RNU4ATAC_000005" "g.122288506G>A" "" "{PMID:He 2011:21474760}" "" "" "" "Germline" "" "" "0" "" "" "g.121530930G>A" "" "pathogenic (recessive)" "" "0000438870" "3" "90" "2" "122288506" "122288506" "subst" "0.00044569" "00006" "RNU4ATAC_000005" "g.122288506G>A" "" "{PMID:He 2011:21474760}" "" "" "" "Germline" "" "" "0" "" "" "g.121530930G>A" "" "pathogenic (recessive)" "" "0000438871" "3" "90" "2" "122288510" "122288510" "subst" "6.36679E-5" "00006" "RNU4ATAC_000016" "g.122288510G>A" "" "{PMID:He 2011:21474760}" "" "" "" "Germline" "" "" "0" "" "" "g.121530934G>A" "" "pathogenic (recessive)" "" "0000438872" "1" "90" "2" "122288485" "122288485" "subst" "5.57565E-5" "00006" "RNU4ATAC_000003" "g.122288485G>A" "" "{PMID:He 2011:21474760}" "" "" "" "Germline" "" "" "0" "" "" "g.121530909G>A" "" "pathogenic (recessive)" "" "0000438873" "2" "90" "2" "122288566" "122288566" "subst" "3.18405E-5" "00006" "RNU4ATAC_000004" "g.122288566G>A" "" "{PMID:He 2011:21474760}" "" "" "" "Germline" "" "" "0" "" "" "g.121530990G>A" "" "pathogenic (recessive)" "" "0000438874" "3" "90" "2" "122288506" "122288506" "subst" "0.00044569" "00006" "RNU4ATAC_000005" "g.122288506G>A" "" "{PMID:Edery 2011:21474761}" "" "" "" "Germline" "" "" "0" "" "" "g.121530930G>A" "" "pathogenic (recessive)" "" "0000438875" "3" "90" "2" "122288506" "122288506" "subst" "0.00044569" "00006" "RNU4ATAC_000005" "g.122288506G>A" "" "{PMID:Edery 2011:21474761}" "" "" "" "Germline" "" "" "0" "" "" "g.121530930G>A" "" "pathogenic (recessive)" "" "0000438876" "3" "90" "2" "122288506" "122288506" "subst" "0.00044569" "00006" "RNU4ATAC_000005" "g.122288506G>A" "" "{PMID:Edery 2011:21474761}" "" "" "" "Germline" "" "" "0" "" "" "g.121530930G>A" "" "pathogenic (recessive)" "" "0000438877" "3" "90" "2" "122288506" "122288506" "subst" "0.00044569" "00006" "RNU4ATAC_000005" "g.122288506G>A" "" "{PMID:Edery 2011:21474761}" "" "" "" "Germline" "" "" "0" "" "" "g.121530930G>A" "" "pathogenic (recessive)" "" "0000438878" "3" "90" "2" "122288506" "122288506" "subst" "0.00044569" "00006" "RNU4ATAC_000005" "g.122288506G>A" "" "{PMID:Edery 2011:21474761}" "" "" "" "Germline" "" "" "0" "" "" "g.121530930G>A" "" "pathogenic (recessive)" "" "0000438879" "1" "90" "2" "122288506" "122288506" "subst" "0.00044569" "00006" "RNU4ATAC_000005" "g.122288506G>A" "" "{PMID:Edery 2011:21474761}" "" "" "" "Germline" "" "" "0" "" "" "g.121530930G>A" "" "pathogenic (recessive)" "" "0000438880" "1" "90" "2" "122288506" "122288506" "subst" "0.00044569" "00006" "RNU4ATAC_000005" "g.122288506G>A" "" "{PMID:Edery 2011:21474761}" "" "" "" "Germline" "" "" "0" "" "" "g.121530930G>A" "" "pathogenic (recessive)" "" "0000438881" "1" "90" "2" "122288506" "122288506" "subst" "0.00044569" "00006" "RNU4ATAC_000005" "g.122288506G>A" "" "{PMID:Edery 2011:21474761}" "" "" "" "Germline" "" "" "0" "" "" "g.121530930G>A" "" "pathogenic (recessive)" "" "0000438882" "2" "90" "2" "122288505" "122288505" "subst" "0.000127346" "00006" "RNU4ATAC_000006" "g.122288505G>A" "" "{PMID:Edery 2011:21474761}" "" "" "" "Germline" "" "" "0" "" "" "g.121530929G>A" "" "pathogenic (recessive)" "" "0000438883" "2" "90" "2" "122288505" "122288505" "subst" "1.59182E-5" "00006" "RNU4ATAC_000007" "g.122288505G>C" "" "{PMID:Edery 2011:21474761}" "" "" "" "Germline" "" "" "0" "" "" "g.121530929G>C" "" "pathogenic (recessive)" "" "0000438884" "2" "90" "2" "122288508" "122288508" "subst" "7.16287E-5" "00006" "RNU4ATAC_000008" "g.122288508C>G" "" "{PMID:Edery 2011:21474761}" "" "" "" "Germline" "" "" "0" "" "" "g.121530932C>G" "" "pathogenic (recessive)" "" "0000438885" "2" "90" "2" "122288508" "122288508" "subst" "7.16287E-5" "00006" "RNU4ATAC_000008" "g.122288508C>G" "" "{PMID:Edery 2011:21474761}" "" "" "" "Germline" "" "" "0" "" "" "g.121530932C>G" "" "pathogenic (recessive)" "" "0000438886" "11" "90" "2" "122288468" "122288468" "subst" "0.000368171" "00006" "RNU4ATAC_000001" "g.122288468C>T" "" "{PMID:Merico 2015:26522830}" "" "" "" "Germline" "yes" "" "0" "" "" "g.121530892C>T" "" "pathogenic (recessive)" "" "0000438887" "21" "90" "2" "122288492" "122288492" "subst" "6.37014E-5" "00006" "RNU4ATAC_000009" "g.122288492G>A" "" "{PMID:Merico 2015:26522830}" "" "" "" "Germline" "yes" "" "0" "" "" "g.121530916G>A" "" "pathogenic (recessive)" "" "0000438888" "11" "90" "2" "122288468" "122288468" "subst" "0.000368171" "00006" "RNU4ATAC_000001" "g.122288468C>T" "" "{PMID:Merico 2015:26522830}" "" "" "" "Germline" "" "" "0" "" "" "g.121530892C>T" "" "pathogenic (recessive)" "" "0000438889" "21" "90" "2" "122288503" "122288503" "subst" "4.77547E-5" "00006" "RNU4ATAC_000010" "g.122288503G>A" "" "{PMID:Merico 2015:26522830}" "" "" "" "Germline" "" "" "0" "" "" "g.121530927G>A" "" "pathogenic (recessive)" "" "0000438890" "11" "90" "2" "122288506" "122288506" "subst" "0.00044569" "00006" "RNU4ATAC_000005" "g.122288506G>A" "" "{PMID:Merico 2015:26522830}" "" "" "" "Germline" "yes" "" "0" "" "" "g.121530930G>A" "" "pathogenic (recessive)" "" "0000438891" "21" "90" "2" "122288471" "122288471" "subst" "0.000144025" "00006" "RNU4ATAC_000011" "g.122288471G>A" "" "{PMID:Merico 2015:26522830}" "" "" "" "Germline" "yes" "" "0" "" "" "g.121530895G>A" "" "pathogenic (recessive)" "" "0000438892" "11" "90" "2" "122288573" "122288573" "subst" "2.38796E-5" "00006" "RNU4ATAC_000012" "g.122288573T>C" "" "{PMID:Merico 2015:26522830}" "" "" "" "Germline" "" "" "0" "" "" "g.121530997T>C" "" "pathogenic (recessive)" "" "0000438893" "21" "90" "2" "122288463" "122288463" "subst" "0.000400808" "00006" "RNU4ATAC_000013" "g.122288463C>T" "" "{PMID:Merico 2015:26522830}" "" "" "" "Germline" "" "" "0" "" "" "g.121530887C>T" "" "pathogenic (recessive)" "" "0000438894" "21" "90" "2" "122288521" "122288521" "subst" "7.95963E-6" "00006" "RNU4ATAC_000014" "g.122288521G>C" "" "{PMID:Abdel-Salam 2012:22581640}" "" "" "" "Germline" "" "" "0" "" "" "g.121530945G>C" "" "pathogenic (recessive)" "" "0000438895" "11" "90" "2" "122288579" "122288579" "subst" "5.57254E-5" "00006" "RNU4ATAC_000015" "g.122288579G>A" "" "{PMID:Abdel-Salam 2012:22581640}" "" "" "" "Germline" "" "" "0" "" "" "g.121531003G>A" "" "pathogenic (recessive)" "" "0000438896" "3" "90" "2" "122288510" "122288510" "subst" "6.36679E-5" "00006" "RNU4ATAC_000016" "g.122288510G>A" "" "{PMID:Abdel-Salam 2012:22581640}" "" "" "" "Germline" "yes" "" "0" "" "" "g.121530934G>A" "" "pathogenic (recessive)" "" "0000438897" "3" "90" "2" "122288506" "122288506" "subst" "0.00044569" "00006" "RNU4ATAC_000005" "g.122288506G>A" "" "{PMID:Nagy 2012:21815888}" "" "" "" "Germline" "" "" "0" "" "" "g.121530930G>A" "" "pathogenic (recessive)" "" "0000438898" "3" "90" "2" "122288506" "122288506" "subst" "0.00044569" "00006" "RNU4ATAC_000005" "g.122288506G>A" "" "{PMID:Nagy 2012:21815888}" "" "" "" "Germline" "" "" "0" "" "" "g.121530930G>A" "" "pathogenic (recessive)" "" "0000438899" "3" "90" "2" "122288506" "122288506" "subst" "0.00044569" "00006" "RNU4ATAC_000005" "g.122288506G>A" "" "{PMID:Nagy 2012:21815888}" "" "" "" "Germline" "" "" "0" "" "" "g.121530930G>A" "" "pathogenic (recessive)" "" "0000438900" "3" "90" "2" "122288506" "122288506" "subst" "0.00044569" "00006" "RNU4ATAC_000005" "g.122288506G>A" "" "{PMID:Nagy 2012:21815888}" "" "" "" "Germline" "" "" "0" "" "" "g.121530930G>A" "" "pathogenic (recessive)" "" "0000438901" "3" "90" "2" "122288506" "122288506" "subst" "0.00044569" "00006" "RNU4ATAC_000005" "g.122288506G>A" "" "{PMID:Nagy 2012:21815888}" "" "" "" "Germline" "" "" "0" "" "" "g.121530930G>A" "" "pathogenic (recessive)" "" "0000438902" "3" "90" "2" "122288506" "122288506" "subst" "0.00044569" "00006" "RNU4ATAC_000005" "g.122288506G>A" "" "{PMID:Nagy 2012:21815888}" "" "" "" "Germline" "" "" "0" "" "" "g.121530930G>A" "" "pathogenic (recessive)" "" "0000438903" "3" "90" "2" "122288506" "122288506" "subst" "0.00044569" "00006" "RNU4ATAC_000005" "g.122288506G>A" "" "{PMID:Nagy 2012:21815888}" "" "" "" "Germline" "" "" "0" "" "" "g.121530930G>A" "" "pathogenic (recessive)" "" "0000438904" "3" "90" "2" "122288506" "122288506" "subst" "0.00044569" "00006" "RNU4ATAC_000005" "g.122288506G>A" "" "{PMID:Nagy 2012:21815888}" "" "" "" "Germline" "" "" "0" "" "" "g.121530930G>A" "" "pathogenic (recessive)" "" "0000438905" "3" "90" "2" "122288506" "122288506" "subst" "0.00044569" "00006" "RNU4ATAC_000005" "g.122288506G>A" "" "{PMID:Nagy 2012:21815888}" "" "" "" "Germline" "" "" "0" "" "" "g.121530930G>A" "" "pathogenic (recessive)" "" "0000438906" "3" "90" "2" "122288506" "122288506" "subst" "0.00044569" "00006" "RNU4ATAC_000005" "g.122288506G>A" "" "{PMID:Nagy 2012:21815888}" "" "" "" "Germline" "" "" "0" "" "" "g.121530930G>A" "" "pathogenic (recessive)" "" "0000438907" "3" "90" "2" "122288506" "122288506" "subst" "0.00044569" "00006" "RNU4ATAC_000005" "g.122288506G>A" "" "{PMID:Nagy 2012:21815888}" "" "" "" "Germline" "" "" "0" "" "" "g.121530930G>A" "" "pathogenic (recessive)" "" "0000438908" "3" "90" "2" "122288506" "122288506" "subst" "0.00044569" "00006" "RNU4ATAC_000005" "g.122288506G>A" "" "{PMID:Nagy 2012:21815888}" "" "" "" "Germline" "" "" "0" "" "" "g.121530930G>A" "" "pathogenic (recessive)" "" "0000438909" "3" "90" "2" "122288506" "122288506" "subst" "0.00044569" "00006" "RNU4ATAC_000005" "g.122288506G>A" "" "{PMID:Nagy 2012:21815888}" "" "" "" "Germline" "" "" "0" "" "" "g.121530930G>A" "" "pathogenic (recessive)" "" "0000438910" "3" "90" "2" "122288506" "122288506" "subst" "0.00044569" "00006" "RNU4ATAC_000005" "g.122288506G>A" "" "{PMID:Nagy 2012:21815888}" "" "" "" "Germline" "" "" "0" "" "" "g.121530930G>A" "" "pathogenic (recessive)" "" "0000438911" "3" "90" "2" "122288506" "122288506" "subst" "0.00044569" "00006" "RNU4ATAC_000005" "g.122288506G>A" "" "{PMID:Nagy 2012:21815888}" "" "" "" "Germline" "" "" "0" "" "" "g.121530930G>A" "" "pathogenic (recessive)" "" "0000438912" "3" "90" "2" "122288510" "122288510" "subst" "6.36679E-5" "00006" "RNU4ATAC_000016" "g.122288510G>A" "" "{PMID:Nagy 2012:21815888}" "" "" "" "Germline" "" "" "0" "" "" "g.121530934G>A" "" "pathogenic (recessive)" "" "0000438913" "1" "90" "2" "122288510" "122288510" "subst" "6.36679E-5" "00006" "RNU4ATAC_000016" "g.122288510G>A" "" "{PMID:Nagy 2012:21815888}" "" "" "Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000438914" "2" "90" "2" "122288566" "122288566" "subst" "3.18405E-5" "00006" "RNU4ATAC_000004" "g.122288566G>A" "" "{PMID:Nagy 2012:21815888}" "" "" "" "Germline" "" "" "0" "" "" "g.121530990G>A" "" "pathogenic (recessive)" "" "0000438915" "3" "90" "2" "122288510" "122288510" "subst" "6.36679E-5" "00006" "RNU4ATAC_000016" "g.122288510G>A" "" "{PMID:Abdel-Salam 2011:21990275}" "" "" "" "Germline" "yes" "" "0" "" "" "g.121530934G>A" "" "pathogenic (recessive)" "" "0000438916" "3" "90" "2" "122288510" "122288510" "subst" "6.36679E-5" "00006" "RNU4ATAC_000016" "g.122288510G>A" "" "{PMID:Abdel-Salam 2013:23794361}" "" "" "" "Germline" "" "" "0" "" "" "g.121530934G>A" "" "pathogenic (recessive)" "" "0000438917" "3" "90" "2" "122288506" "122288506" "subst" "0.00044569" "00006" "RNU4ATAC_000005" "g.122288506G>A" "" "{PMID:Abdel-Salam 2013:23794361}" "" "" "" "Germline" "" "" "0" "" "" "g.121530930G>A" "" "pathogenic (recessive)" "" 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"{PMID:Putoux 2016:27040866}" "" "" "" "Germline" "" "" "0" "" "" "g.121530930G>A" "" "pathogenic (recessive)" "" "0000438927" "3" "90" "2" "122288506" "122288506" "subst" "0.00044569" "00006" "RNU4ATAC_000005" "g.122288506G>A" "" "{PMID:Putoux 2016:27040866}" "" "" "" "Germline" "" "" "0" "" "" "g.121530930G>A" "" "pathogenic (recessive)" "" "0000438928" "1" "90" "2" "122288506" "122288506" "subst" "0.00044569" "00006" "RNU4ATAC_000005" "g.122288506G>A" "" "{PMID:Putoux 2016:27040866}" "" "" "" "Germline" "" "" "0" "" "" "g.121530930G>A" "" "pathogenic (recessive)" "" "0000438929" "1" "90" "2" "122288495" "122288495" "subst" "4.77699E-5" "00006" "RNU4ATAC_000018" "g.122288495C>T" "" "{PMID:Putoux 2016:27040866}" "" "" "" "Germline" "" "" "0" "" "" "g.121530919C>T" "" "pathogenic (recessive)" "" "0000438930" "2" "90" "2" "122288510" "122288510" "subst" "6.36679E-5" "00006" "RNU4ATAC_000016" "g.122288510G>A" "" "{PMID:Putoux 2016:27040866}" "" "" "" "Germline" "" "" "0" "" "" "g.121530934G>A" "" "pathogenic (recessive)" "" "0000438931" "2" "90" "2" "122288579" "122288579" "subst" "5.57254E-5" "00006" "RNU4ATAC_000015" "g.122288579G>A" "" "{PMID:Putoux 2016:27040866}" "" "" "" "Germline" "" "" "0" "" "" "g.121531003G>A" "" "pathogenic (recessive)" "" "0000438932" "2" "90" "2" "122288579" "122288579" "subst" "5.57254E-5" "00006" "RNU4ATAC_000015" "g.122288579G>A" "" "{PMID:Putoux 2016:27040866}" "" "" "" "Germline" "" "" "0" "" "" "g.121531003G>A" "" "pathogenic (recessive)" "" "0000438933" "3" "90" "2" "122288506" "122288506" "subst" "0.00044569" "00006" "RNU4ATAC_000005" "g.122288506G>A" "" "{PMID:Ferrell 2016:27312855}" "" "" "" "Germline" "" "" "0" "" "" "g.121530930G>A" "" "pathogenic (recessive)" "" "0000438934" "11" "90" "2" "122288468" "122288468" "subst" "0.000368171" "00006" "RNU4ATAC_000001" "g.122288468C>T" "" "{PMID:Bogaert 2017:28623346}" "" "" "" "Germline" "yes" "" "0" "" "" "g.121530892C>T" "" "pathogenic (recessive)" "" "0000438935" "21" "90" "2" "122288571" "122288571" "subst" "1.59256E-5" "00006" "RNU4ATAC_000020" "g.122288571A>T" "" "{PMID:Bogaert 2017:28623346}" "" "" "" "Germline" "yes" "" "0" "" "" "g.121530995A>T" "" "pathogenic (recessive)" "" "0000438937" "1" "90" "2" "122288468" "122288468" "subst" "2.40111E-5" "00006" "RNU4ATAC_000021" "g.122288468C>G" "" "{PMID:Lionel 2018:28771251}" "" "" "" "Germline" "" "" "0" "" "" "g.121530892C>G" "" "pathogenic (recessive)" "" "0000438938" "2" "90" "2" "122288484" "122288484" "subst" "1.59444E-5" "00006" "RNU4ATAC_000022" "g.122288484T>C" "" "{PMID:Lionel 2018:28771251}" "" "" "" "Germline" "" "" "0" "" "" "g.121530908T>C" "" "pathogenic (recessive)" "" "0000438939" "3" "90" "2" "122288471" "122288471" "subst" "0.000144025" "00006" "RNU4ATAC_000011" "g.122288471G>A" "" "{PMID:Dinur Schejter 2018:29263834}" "" "" "" "Germline" "" "" "0" "" "" "g.121530895G>A" "" "pathogenic (recessive)" "" "0000438940" "11" "90" "2" "122288571" "122288571" "subst" "7.9628E-6" "00006" "RNU4ATAC_000023" "g.122288571A>G" "" "{PMID:Dinur Schejter 2018:29263834}" "" "" "" "Germline" "" "" "0" "" "" "g.121530995A>G" "" "pathogenic (recessive)" "" "0000438941" "21" "90" "2" "122288472" "122288472" "subst" "8.78875E-5" "00006" "RNU4ATAC_000024" "g.122288472G>A" "" "{PMID:Dinur Schejter 2018:29263834}" "" "" "" "Germline" "" "" "0" "" "" "g.121530896G>A" "" "pathogenic (recessive)" "" "0000438942" "1" "90" "2" "122288506" "122288506" "subst" "0.00044569" "00006" "RNU4ATAC_000005" "g.122288506G>A" "" "{PMID:Farach 2018:29265708}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.121530930G>A" "" "pathogenic (recessive)" "" "0000438943" "2" "90" "2" "122288460" "122288460" "subst" "1.60403E-5" "00006" "RNU4ATAC_000025" "g.122288460A>C" "" "{PMID:Farach 2018:29265708}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.121530884A>C" "" "pathogenic (recessive)" "" "0000438944" "1" "90" "2" "122288566" "122288566" "subst" "3.18405E-5" "00006" "RNU4ATAC_000004" "g.122288566G>A" "" "{PMID:Farach 2018:29265708}" "" "" "ACMG PS3, PS4" "Germline" "yes" "" "0" "" "" "g.121530990G>A" "" "pathogenic" "ACMG" "0000438945" "2" "90" "2" "122288501" "122288501" "subst" "0.00012735" "00006" "RNU4ATAC_000017" "g.122288501G>A" "" "{PMID:Farach 2018:29265708}" "" "" "ACMG criteria PS4, PM2, PM3, PP1, PP4" "Germline" "yes" "" "0" "" "" "g.121530925G>A" "" "pathogenic" "ACMG" "0000438946" "2" "50" "2" "122288578" "122288578" "subst" "7.96014E-5" "00006" "RNU4ATAC_000026" "g.122288578G>A" "" "{PMID:Farach 2018:29265708}" "" "" "" "Germline" "" "" "0" "" "" "g.121531002G>A" "" "VUS" "" "0000438947" "1" "90" "2" "122288506" "122288506" "subst" "0.00044569" "00006" "RNU4ATAC_000005" "g.122288506G>A" "" "{PMID:Wang 2018:29370840}" "" "" "" "Germline" "yes" "" "0" "" "" "g.121530930G>A" "" "pathogenic (recessive)" "" "0000438948" "2" "90" "2" "122288484" "122288484" "subst" "0" "00006" "RNU4ATAC_000027" "g.122288484T>A" "" "{PMID:Wang 2018:29370840}" "" "" "" "Germline" "yes" "" "0" "" "" "g.121530908T>A" "" "pathogenic (recessive)" "" "0000438949" "21" "90" "2" "122288508" "122288508" "subst" "0.000159175" "00006" "RNU4ATAC_000028" "g.122288508C>T" "" "{PMID:Shelihan 2018:30368667}" "" "" "" "Germline" "" "" "0" "" "" "g.121530932C>T" "" "pathogenic (recessive)" "" "0000438950" "11" "90" "2" "122288463" "122288463" "subst" "0" "00006" "RNU4ATAC_000029" "g.122288463C>A" "" "{PMID:Shelihan 2018:30368667}" "" "" "" "Germline" "" "" "0" "" "" "g.121530887C>A" "" "pathogenic (recessive)" "" "0000438951" "11" "90" "2" "122288575" "122288575" "subst" "0" "00006" "RNU4ATAC_000030" "g.122288575T>G" "" "{PMID:Shelihan 2018:30368667}" "" "" "" "Germline" "" "" "0" "" "" "g.121530999T>G" "" "pathogenic (recessive)" "" "0000438952" "21" "90" "2" "122288569" "122288569" "subst" "7.96014E-6" "00006" "RNU4ATAC_000031" "g.122288569G>C" "" "{PMID:Shelihan 2018:30368667}" "" "" "" "Germline" "" "" "0" "" "" "g.121530993G>C" "" "pathogenic (recessive)" "" "0000438953" "11" "90" "2" "122288468" "122288468" "subst" "0.000368171" "00006" "RNU4ATAC_000001" "g.122288468C>T" "" "{PMID:Hallermayr 2018:30455926}" "" "" "" "Germline" "" "" "0" "" "" "g.121530892C>T" "" "pathogenic (recessive)" "" "0000438954" "21" "90" "2" "122288571" "122288571" "subst" "1.59256E-5" "00006" "RNU4ATAC_000020" "g.122288571A>T" "" "{PMID:Hallermayr 2018:30455926}" "" "" "" "Germline" "" "" "0" "" "" "g.121530995A>T" "" "pathogenic (recessive)" "" "0000509126" "0" "50" "2" "122288460" "122288460" "subst" "0.000232584" "01943" "CLASP1_000003" "g.122288460A>G" "" "" "" "RNU4ATAC(NR_023343.1):n.5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121530884A>G" "" "VUS" "" "0000509127" "0" "90" "2" "122288468" "122288468" "subst" "0.000368171" "02326" "RNU4ATAC_000001" "g.122288468C>T" "" "" "" "RNU4ATAC(NR_023343.1):n.13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121530892C>T" "" "pathogenic" "" "0000509128" "0" "50" "2" "122288478" "122288478" "subst" "0.00282693" "01943" "CLASP1_000004" "g.122288478C>T" "" "" "" "RNU4ATAC(NR_023343.1):n.23C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121530902C>T" "" "VUS" "" "0000509129" "0" "50" "2" "122288488" "122288488" "subst" "0" "02327" "CLASP1_000005" "g.122288488C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121530912C>G" "" "VUS" "" "0000509130" "0" "50" "2" "122288497" "122288497" "subst" "0.000923449" "01943" "CLASP1_000006" "g.122288497C>T" "" "" "" "RNU4ATAC(NR_023343.1):n.42C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121530921C>T" "" "VUS" "" "0000509131" "0" "90" "2" "122288506" "122288506" "subst" "0.00044569" "02327" "RNU4ATAC_000005" "g.122288506G>A" "" "" "" "RNU4ATAC(NR_023343.1):n.51G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121530930G>A" "" "pathogenic" "" "0000509132" "0" "90" "2" "122288579" "122288579" "subst" "5.57254E-5" "02327" "RNU4ATAC_000015" "g.122288579G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121531003G>A" "" "pathogenic" "" "0000606083" "0" "50" "2" "122288462" "122288462" "subst" "0.000384751" "01943" "CLASP1_000008" "g.122288462C>T" "" "" "" "RNU4ATAC(NR_023343.1):n.7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121530886C>T" "" "VUS" "" "0000606084" "0" "90" "2" "122288471" "122288471" "subst" "0.000144025" "01943" "RNU4ATAC_000011" "g.122288471G>A" "" "" "" "RNU4ATAC(NR_023343.1):n.16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121530895G>A" "" "pathogenic" "" "0000606085" "0" "50" "2" "122288480" "122288480" "subst" "0.000255179" "01943" "CLASP1_000009" "g.122288480C>T" "" "" "" "RNU4ATAC(NR_023343.1):n.25C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121530904C>T" "" "VUS" "" "0000654187" "0" "70" "2" "122288463" "122288463" "subst" "0.000400808" "01943" "RNU4ATAC_000013" "g.122288463C>T" "" "" "" "RNU4ATAC(NR_023343.1):n.8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121530887C>T" "" "likely pathogenic" "" "0000654188" "0" "50" "2" "122288488" "122288488" "subst" "0.000167251" "01943" "CLASP1_000010" "g.122288488C>T" "" "" "" "RNU4ATAC(NR_023343.1):n.33C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121530912C>T" "" "VUS" "" "0000654189" "0" "50" "2" "122288496" "122288496" "subst" "0.000398102" "01943" "CLASP1_000011" "g.122288496G>A" "" "" "" "RNU4ATAC(NR_023343.1):n.41G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121530920G>A" "" "VUS" "" "0000654190" "0" "70" "2" "122288505" "122288505" "subst" "0.000127346" "01943" "RNU4ATAC_000006" "g.122288505G>A" "" "" "" "RNU4ATAC(NR_023343.1):n.50G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121530929G>A" "" "likely pathogenic" "" "0000676007" "0" "50" "2" "122288528" "122288528" "subst" "0.00020695" "01943" "CLASP1_000012" "g.122288528C>G" "" "" "" "RNU4ATAC(NR_023343.1):n.73C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000730055" "1" "90" "2" "122288468" "122288468" "subst" "0.000368171" "00000" "RNU4ATAC_000001" "g.122288468C>T" "" "{PMID:Maddirevula 2018:29620724}" "" "NR_023343.1:n.13C>T" "" "Germline" "" "" "0" "" "" "g.121530892C>T" "" "likely pathogenic (recessive)" "" "0000730105" "2" "90" "2" "122288501" "122288501" "subst" "0.00012735" "00000" "RNU4ATAC_000017" "g.122288501G>A" "" "{PMID:Maddirevula 2018:29620724}" "" "NR_023343.1:n.46G>A" "" "Germline" "" "" "0" "" "" "g.121530925G>A" "" "likely pathogenic (recessive)" "" "0000799657" "0" "50" "2" "122288555" "122288555" "dup" "0" "01943" "CLASP1_000013" "g.122288555dup" "" "" "" "RNU4ATAC(NR_023343.1):n.96_97insT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848937" "0" "70" "2" "122288501" "122288501" "subst" "0.00012735" "02326" "RNU4ATAC_000017" "g.122288501G>A" "" "" "" "RNU4ATAC(NR_023343.1):n.46G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000883729" "0" "90" "2" "122288506" "122288506" "subst" "0.00044569" "02325" "RNU4ATAC_000005" "g.122288506G>A" "" "" "" "RNU4ATAC(NR_023343.1):n.51G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000883730" "0" "50" "2" "122288535" "122288535" "subst" "6.3678E-5" "02325" "CLASP1_000015" "g.122288535C>T" "" "" "" "RNU4ATAC(NR_023343.1):n.80C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911176" "0" "30" "2" "122288497" "122288497" "subst" "0.000923449" "02325" "CLASP1_000006" "g.122288497C>T" "" "" "" "RNU4ATAC(NR_023343.1):n.42C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928261" "0" "90" "2" "122288463" "122288463" "subst" "0.000400808" "02327" "RNU4ATAC_000013" "g.122288463C>T" "" "" "" "RNU4ATAC(NR_023343.1):n.8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000928262" "0" "70" "2" "122288485" "122288485" "subst" "5.57565E-5" "02325" "RNU4ATAC_000003" "g.122288485G>A" "" "" "" "RNU4ATAC(NR_023343.1):n.30G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000928263" "0" "90" "2" "122288503" "122288503" "subst" "4.77547E-5" "02327" "RNU4ATAC_000010" "g.122288503G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000928264" "0" "30" "2" "122288548" "122288548" "subst" "0.00238766" "02325" "CLASP1_000017" "g.122288548G>A" "" "" "" "RNU4ATAC(NR_023343.1):n.93G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000958267" "0" "90" "2" "122288468" "122288468" "subst" "0.000368171" "00006" "RNU4ATAC_000001" "g.122288468C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "" "218083" "pathogenic (recessive)" "ACMG" "0000958587" "0" "70" "2" "122288503" "122288503" "subst" "4.77547E-5" "00006" "RNU4ATAC_000010" "g.122288503G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5_STRONG" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000974264" "0" "50" "2" "122288573" "122288583" "dup" "0" "02325" "CLASP1_000020" "g.122288573_122288583dup" "" "" "" "RNU4ATAC(NR_023343.1):n.117_118insTTTTTGGAAAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013375" "0" "50" "2" "122288478" "122288478" "subst" "0.00282693" "02325" "CLASP1_000004" "g.122288478C>T" "" "" "" "RNU4ATAC(NR_023343.1):n.23C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024229" "0" "50" "2" "122288488" "122288488" "subst" "0.000167251" "02325" "CLASP1_000010" "g.122288488C>T" "" "" "" "RNU4ATAC(NR_023343.1):n.33C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032349" "0" "50" "2" "122288527" "122288527" "subst" "7.16401E-5" "02325" "CLASP1_000029" "g.122288527A>G" "" "" "" "RNU4ATAC(NR_023343.1):n.72A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044558" "0" "70" "2" "122288471" "122288471" "subst" "0.000144025" "04682" "RNU4ATAC_000011" "g.122288471G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.121530895G>A" "" "likely pathogenic (recessive)" "" "0001044559" "0" "70" "2" "122288506" "122288506" "subst" "0.00044569" "04682" "RNU4ATAC_000005" "g.122288506G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.121530930G>A" "" "likely pathogenic (recessive)" "" "0001044560" "0" "70" "2" "122288468" "122288468" "subst" "0.000368171" "04682" "RNU4ATAC_000001" "g.122288468C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.121530892C>T" "" "likely pathogenic (recessive)" "" "0001044561" "0" "70" "2" "122288485" "122288485" "subst" "5.57565E-5" "04682" "RNU4ATAC_000003" "g.122288485G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.121530909G>A" "" "likely pathogenic (recessive)" "" "0001044562" "0" "70" "2" "122288471" "122288471" "subst" "0.000144025" "04682" "RNU4ATAC_000011" "g.122288471G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.121530895G>A" "" "likely pathogenic (recessive)" "" "0001044563" "0" "70" "2" "122288506" "122288506" "subst" "0.00044569" "04682" "RNU4ATAC_000005" "g.122288506G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.121530930G>A" "" "likely pathogenic (recessive)" "" "0001045708" "0" "50" "2" "122288548" "122288548" "subst" "0.000191013" "02325" "CLASP1_000030" "g.122288548G>C" "" "" "" "RNU4ATAC(NR_023343.1):n.93G>C" "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 RNU4ATAC ## Count = 132 "{{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}}" "0000351690" "00017971" "90" "13" "0" "13" "0" "n.13C>T" "r.(13c>u)" "-" "" "0000351692" "00017971" "90" "116" "0" "116" "0" "n.116A>C" "r.(116a>c)" "-" "" "0000438863" "00017971" "90" "51" "0" "51" "0" "n.51G>A" "r.(51g>a)" "-" "" "0000438864" "00017971" "90" "51" "0" "51" "0" "n.51G>A" "r.(51g>a)" "-" "" "0000438865" "00017971" "90" "51" "0" "51" "0" "n.51G>A" "r.(51g>a)" "-" "" "0000438866" "00017971" "90" "51" "0" "51" "0" "n.51G>A" "r.(51g>a)" "-" "" "0000438867" "00017971" "90" "51" "0" "51" "0" "n.51G>A" "r.(51g>a)" "-" "" "0000438868" "00017971" "90" "51" "0" "51" "0" "n.51G>A" "r.(51g>a)" "-" "" "0000438869" "00017971" "90" "51" "0" "51" "0" "n.51G>A" "r.(51g>a)" "-" "" "0000438870" "00017971" "90" "51" "0" "51" "0" "n.51G>A" "r.(51g>a)" "-" "" "0000438871" "00017971" "90" "55" "0" "55" "0" "n.55G>A" "r.(55g>a)" "-" "" "0000438872" "00017971" "90" "30" "0" "30" "0" "n.30G>A" "r.(?)" "-" "" "0000438873" "00017971" "90" "111" "0" "111" "0" "n.111G>A" "r.(?)" "-" "" "0000438874" "00017971" "90" "51" "0" "51" "0" "n.51G>A" "r.(51g>a)" "-" "" "0000438875" "00017971" "90" "51" "0" "51" "0" "n.51G>A" "r.(51g>a)" "-" "" "0000438876" "00017971" "90" "51" "0" "51" "0" "n.51G>A" "r.(51g>a)" "-" "" "0000438877" "00017971" "90" "51" "0" "51" "0" "n.51G>A" "r.(51g>a)" "-" "" "0000438878" "00017971" "90" "51" "0" "51" "0" "n.51G>A" "r.(51g>a)" "-" "" "0000438879" "00017971" "90" "51" "0" "51" "0" "n.51G>A" "r.(51g>a)" "-" "" "0000438880" "00017971" "90" "51" "0" "51" "0" "n.51G>A" "r.(51g>a)" "-" "" "0000438881" "00017971" "90" "51" "0" "51" "0" "n.51G>A" "r.(51g>a)" "-" "" "0000438882" "00017971" "90" "50" "0" "50" "0" "n.50G>A" "r.(50g>a)" "-" "" "0000438883" "00017971" "90" "50" "0" "50" "0" "n.50G>C" "r.(50g>c)" "-" "" "0000438884" "00017971" "90" "53" "0" "53" "0" "n.53C>G" "r.(53c>g)" "-" "" "0000438885" "00017971" "90" "53" "0" "53" "0" "n.53C>G" "r.(53c>g)" "-" "" "0000438886" "00017971" "90" "13" "0" "13" "0" "n.13C>T" "r.(13c>u)" "-" "" "0000438887" "00017971" "90" "37" "0" "37" "0" "n.37G>A" "r.(?)" "-" "" "0000438888" "00017971" "90" "13" "0" "13" "0" "n.13C>T" "r.(13c>u)" "-" "" "0000438889" "00017971" "90" "48" "0" "48" "0" "n.48G>A" "r.(48g>a)" "-" "" "0000438890" "00017971" "90" "51" "0" "51" "0" "n.51G>A" "r.(51g>a)" "-" "" "0000438891" "00017971" "90" "16" "0" "16" "0" "n.16G>A" "r.(?)" "-" "" "0000438892" "00017971" "90" "118" "0" "118" "0" "n.118T>C" "r.(118u>c)" "-" "" "0000438893" "00017971" "90" "8" "0" "8" "0" "n.8C>T" "r.(8c>u)" "-" "" "0000438894" "00017971" "90" "66" "0" "66" "0" "n.66G>C" "r.(66g>c)" "-" "" "0000438895" "00017971" "90" "124" "0" "124" "0" "n.124G>A" "r.(124g>a)" "-" "" "0000438896" "00017971" "90" "55" "0" "55" "0" "n.55G>A" "r.(55g>a)" "-" "" "0000438897" "00017971" "90" "51" "0" "51" "0" "n.51G>A" "r.(51g>a)" "-" "" "0000438898" "00017971" "90" "51" "0" "51" "0" "n.51G>A" "r.(51g>a)" "-" "" "0000438899" "00017971" "90" "51" "0" "51" "0" "n.51G>A" "r.(51g>a)" "-" "" "0000438900" "00017971" "90" "51" "0" "51" "0" "n.51G>A" "r.(51g>a)" "-" "" "0000438901" "00017971" "90" "51" "0" "51" "0" "n.51G>A" "r.(51g>a)" "-" "" "0000438902" "00017971" "90" "51" "0" "51" "0" "n.51G>A" "r.(51g>a)" "-" "" "0000438903" "00017971" "90" "51" "0" "51" "0" "n.51G>A" "r.(51g>a)" "-" "" "0000438904" "00017971" "90" "51" "0" "51" "0" "n.51G>A" "r.(51g>a)" "-" "" "0000438905" "00017971" "90" "51" "0" "51" "0" "n.51G>A" "r.(51g>a)" "-" "" "0000438906" "00017971" "90" "51" "0" "51" "0" "n.51G>A" "r.(51g>a)" "-" "" "0000438907" "00017971" "90" "51" "0" "51" "0" "n.51G>A" "r.(51g>a)" "-" "" "0000438908" "00017971" "90" "51" "0" "51" "0" "n.51G>A" "r.(51g>a)" "-" "" "0000438909" "00017971" "90" "51" "0" "51" "0" "n.51G>A" "r.(51g>a)" "-" "" "0000438910" "00017971" "90" "51" "0" "51" "0" "n.51G>A" "r.(51g>a)" "-" "" "0000438911" "00017971" "90" "51" "0" "51" "0" "n.51G>A" "r.(51g>a)" "-" "" "0000438912" "00017971" "90" "55" "0" "55" "0" "n.55G>A" "r.(55g>a)" "-" "" "0000438913" "00017971" "90" "30" "0" "30" "0" "n.30G>A" "r.(30g>a)" "-" "" "0000438914" "00017971" "90" "111" "0" "111" "0" "n.111G>A" "r.(111g>a)" "-" "" "0000438915" "00017971" "90" "55" "0" "55" "0" "n.55G>A" "r.(55g>a)" "-" "" "0000438916" "00017971" "90" "55" "0" "55" "0" "n.55G>A" "r.(55g>a)" "-" "" "0000438917" "00017971" "90" "51" "0" "51" "0" "n.51G>A" "r.(51g>a)" "-" "" "0000438918" "00017971" "90" "51" "0" "51" "0" "n.51G>A" "r.(51g>a)" "-" "" "0000438919" "00017971" "90" "46" "0" "46" "0" "n.46G>A" "r.(46g>a)" "-" "" "0000438920" "00017971" "90" "55" "0" "55" "0" "n.55G>A" "r.(55g>a)" "-" "" "0000438921" "00017971" "90" "40" "0" "40" "0" "n.40C>T" "r.(40c>u)" "-" "" "0000438922" "00017971" "90" "17" "0" "101" "0" "n.17_101dup" "r.?" "-" "" "0000438923" "00017971" "90" "51" "0" "51" "0" "n.51G>A" "r.(51g>a)" "-" "" "0000438924" "00017971" "90" "51" "0" "51" "0" "n.51G>A" "r.(51g>a)" "-" "" "0000438925" "00017971" "90" "51" "0" "51" "0" "n.51G>A" "r.(51g>a)" "-" "" "0000438926" "00017971" "90" "51" "0" "51" "0" "n.51G>A" "r.(51g>a)" "-" "" "0000438927" "00017971" "90" "51" "0" "51" "0" "n.51G>A" "r.(51g>a)" "-" "" "0000438928" "00017971" "90" "51" "0" "51" "0" "n.51G>A" "r.(51g>a)" "-" "" "0000438929" "00017971" "90" "40" "0" "40" "0" "n.40C>T" "r.(40c>u)" "-" "" "0000438930" "00017971" "90" "55" "0" "55" "0" "n.55G>A" "r.(55g>a)" "-" "" "0000438931" "00017971" "90" "124" "0" "124" "0" "n.124G>A" "r.(124g>a)" "-" "" "0000438932" "00017971" "90" "124" "0" "124" "0" "n.124G>A" "r.(124g>a)" "-" "" "0000438933" "00017971" "90" "51" "0" "51" "0" "n.51G>A" "r.(51g>a)" "-" "" "0000438934" "00017971" "90" "13" "0" "13" "0" "n.13C>T" "r.(13c>u)" "-" "" "0000438935" "00017971" "90" "116" "0" "116" "0" "n.116A>T" "r.(116a>u)" "-" "" "0000438937" "00017971" "90" "13" "0" "13" "0" "n.13C>G" "r.(13c>ug)" "-" "" "0000438938" "00017971" "90" "29" "0" "29" "0" "n.29T>C" "r.(29u>c" "-" "" "0000438939" "00017971" "90" "16" "0" "16" "0" "n.16G>A" "r.(16g>a)" "-" "" "0000438940" "00017971" "90" "116" "0" "116" "0" "n.116A>G" "r.(116a>g)" "-" "" "0000438941" "00017971" "90" "17" "0" "17" "0" "n.17G>A" "r.(17g>a)" "-" "" "0000438942" "00017971" "90" "51" "0" "51" "0" "n.51G>A" "r.(51g>a)" "-" "" "0000438943" "00017971" "90" "5" "0" "5" "0" "n.5A>C" "r.(5a>c)" "-" "" "0000438944" "00017971" "90" "111" "0" "111" "0" "n.111G>A" "r.(111g>a)" "-" "" "0000438945" "00017971" "90" "46" "0" "46" "0" "n.46G>A" "r.(46g>a)" "-" "" "0000438946" "00017971" "50" "123" "0" "123" "0" "n.123G>A" "r.(123g>a)" "-" "" "0000438947" "00017971" "90" "51" "0" "51" "0" "n.51G>A" "r.(51g>a)" "-" "" "0000438948" "00017971" "90" "29" "0" "29" "0" "n.29T>A" "r.(29u>a)" "-" "" "0000438949" "00017971" "90" "53" "0" "53" "0" "n.53C>T" "r.(53c>u)" "-" "" "0000438950" "00017971" "90" "8" "0" "8" "0" "n.8C>A" "r.(8c>a)" "-" "" "0000438951" "00017971" "90" "120" "0" "120" "0" "n.120T>G" "r.(120u>g)" "-" "" "0000438952" "00017971" "90" "114" "0" "114" "0" "n.114G>C" "r.(114g>c)" "-" "" "0000438953" "00017971" "90" "13" "0" "13" "0" "n.13C>T" "r.(13c>u)" "-" "" "0000438954" "00017971" "90" "116" "0" "116" "0" "n.116A>T" "r.(116a>u)" "-" "" "0000509126" "00017971" "50" "5" "0" "5" "0" "n.5A>G" "r.(?)" "-" "" "0000509127" "00017971" "90" "13" "0" "13" "0" "n.13C>T" "r.(?)" "-" "" "0000509128" "00017971" "50" "23" "0" "23" "0" "n.23C>T" "r.(?)" "-" "" "0000509129" "00017971" "50" "33" "0" "33" "0" "n.33C>G" "r.(?)" "-" "" "0000509130" "00017971" "50" "42" "0" "42" "0" "n.42C>T" "r.(?)" "-" "" "0000509131" "00017971" "90" "51" "0" "51" "0" "n.51G>A" "r.(?)" "-" "" "0000509132" "00017971" "90" "124" "0" "124" "0" "n.124G>A" "r.(?)" "-" "" "0000606083" "00017971" "50" "7" "0" "7" "0" "n.7C>T" "r.(?)" "-" "" "0000606084" "00017971" "90" "16" "0" "16" "0" "n.16G>A" "r.(?)" "-" "" "0000606085" "00017971" "50" "25" "0" "25" "0" "n.25C>T" "r.(?)" "-" "" "0000654187" "00017971" "70" "8" "0" "8" "0" "n.8C>T" "r.(?)" "-" "" "0000654188" "00017971" "50" "33" "0" "33" "0" "n.33C>T" "r.(?)" "-" "" "0000654189" "00017971" "50" "41" "0" "41" "0" "n.41G>A" "r.(?)" "-" "" "0000654190" "00017971" "70" "50" "0" "50" "0" "n.50G>A" "r.(?)" "-" "" "0000676007" "00017971" "50" "73" "0" "73" "0" "n.73C>G" "r.(?)" "-" "" "0000730055" "00017971" "90" "13" "0" "13" "0" "n.13C>T" "r.(?)" "-" "" "0000730105" "00017971" "90" "46" "0" "46" "0" "n.46G>A" "r.(?)" "-" "" "0000799657" "00017971" "50" "100" "0" "100" "0" "n.100dup" "r.(?)" "-" "" "0000848937" "00017971" "70" "46" "0" "46" "0" "n.46G>A" "r.(?)" "-" "" "0000883729" "00017971" "90" "51" "0" "51" "0" "n.51G>A" "r.(?)" "-" "" "0000883730" "00017971" "50" "80" "0" "80" "0" "n.80C>T" "r.(?)" "-" "" "0000911176" "00017971" "30" "42" "0" "42" "0" "n.42C>T" "r.(?)" "-" "" "0000928261" "00017971" "90" "8" "0" "8" "0" "n.8C>T" "r.(?)" "-" "" "0000928262" "00017971" "70" "30" "0" "30" "0" "n.30G>A" "r.(?)" "-" "" "0000928263" "00017971" "90" "48" "0" "48" "0" "n.48G>A" "r.(?)" "-" "" "0000928264" "00017971" "30" "93" "0" "93" "0" "n.93G>A" "r.(?)" "-" "" "0000958267" "00017971" "90" "13" "0" "13" "0" "n.13C>T" "r.(?)" "-" "" "0000958587" "00017971" "70" "48" "0" "48" "0" "n.48G>A" "r.(?)" "-" "" "0000974264" "00017971" "50" "118" "0" "128" "0" "n.118_128dup" "r.(?)" "-" "" "0001013375" "00017971" "50" "23" "0" "23" "0" "n.23C>T" "r.(?)" "-" "" "0001024229" "00017971" "50" "33" "0" "33" "0" "n.33C>T" "r.(?)" "-" "" "0001032349" "00017971" "50" "72" "0" "72" "0" "n.72A>G" "r.(?)" "-" "" "0001044558" "00017971" "70" "16" "0" "16" "0" "n.16G>A" "r.(16G>A)" "-" "" "0001044559" "00017971" "70" "51" "0" "51" "0" "n.51G>A" "r.(51G>A)" "-" "" "0001044560" "00017971" "70" "13" "0" "13" "0" "n.13C>T" "r.(13C>T)" "-" "" "0001044561" "00017971" "70" "30" "0" "30" "0" "n.30G>A" "r.(30G>A)" "-" "" "0001044562" "00017971" "70" "16" "0" "16" "0" "n.16G>A" "r.(16G>A)" "-" "" "0001044563" "00017971" "70" "51" "0" "51" "0" "n.51G>A" "r.(51G>A)" "-" "" "0001045708" "00017971" "50" "93" "0" "93" "0" "n.93G>C" "r.(?)" "-" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 103 "{{screeningid}}" "{{variantid}}" "0000152688" "0000351690" "0000152688" "0000351692" "0000208856" "0000438863" "0000208857" "0000438864" "0000208858" "0000438865" "0000208859" "0000438866" "0000208860" "0000438867" "0000208861" "0000438868" "0000208862" "0000438869" "0000208863" "0000438870" "0000208864" "0000438871" "0000208865" "0000438872" "0000208865" "0000438873" "0000208866" "0000438874" "0000208867" "0000438875" "0000208868" "0000438876" "0000208869" "0000438877" "0000208870" "0000438878" "0000208871" "0000438879" "0000208871" "0000438882" "0000208872" "0000438880" "0000208872" "0000438883" "0000208873" "0000438881" "0000208873" "0000438884" "0000208873" "0000438885" "0000208874" "0000438886" "0000208874" "0000438887" "0000208875" "0000438888" "0000208875" "0000438889" "0000208876" "0000438890" "0000208876" "0000438891" "0000208877" "0000438892" "0000208877" "0000438893" "0000208878" "0000438894" "0000208878" "0000438895" "0000208879" "0000438896" "0000208880" "0000438897" "0000208881" "0000438898" "0000208882" "0000438899" "0000208883" "0000438900" "0000208884" "0000438901" "0000208885" "0000438902" "0000208886" "0000438903" "0000208887" "0000438904" "0000208888" "0000438905" "0000208889" "0000438906" "0000208890" "0000438907" "0000208891" "0000438908" "0000208892" "0000438909" "0000208893" "0000438910" "0000208894" "0000438911" "0000208895" "0000438912" "0000208896" "0000438913" "0000208896" "0000438914" "0000208897" "0000438915" "0000208898" "0000438916" "0000208899" "0000438917" "0000208900" "0000438918" "0000208901" "0000438919" "0000208902" "0000438920" "0000208903" "0000438921" "0000208903" "0000438922" "0000208904" "0000438923" "0000208904" "0000438930" "0000208905" "0000438924" "0000208906" "0000438925" "0000208907" "0000438926" "0000208908" "0000438927" "0000208909" "0000438928" "0000208909" "0000438931" "0000208910" "0000438929" "0000208910" "0000438932" "0000208911" "0000438933" "0000208912" "0000438934" "0000208912" "0000438935" "0000208914" "0000438937" "0000208914" "0000438938" "0000208915" "0000438939" "0000208916" "0000438940" "0000208916" "0000438941" "0000208917" "0000438942" "0000208917" "0000438943" "0000208918" "0000438944" "0000208918" "0000438945" "0000208918" "0000438946" "0000208919" "0000438947" "0000208919" "0000438948" "0000208920" "0000438949" "0000208920" "0000438950" "0000208921" "0000438951" "0000208921" "0000438952" "0000208922" "0000438953" "0000208922" "0000438954" "0000332773" "0000730055" "0000332773" "0000730105" "0000448781" "0000958267" "0000448781" "0000958587" "0000466936" "0001044558" "0000466936" "0001044559" "0000466937" "0001044560" "0000466937" "0001044561" "0000466938" "0001044562" "0000466938" "0001044563"