### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DNAJB11) # 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}}" "DNAJB11" "DnaJ (Hsp40) homolog, subfamily B, member 11" "3" "q27" "unknown" "NG_034024.1" "UD_133490837451" "" "https://www.LOVD.nl/DNAJB11" "" "1" "14889" "51726" "611341" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/DNAJB11_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-05-08 22:23:36" "00000" "2025-05-05 21:14:00" ## 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}}" "00006545" "DNAJB11" "DnaJ (Hsp40) homolog, subfamily B, member 11" "001" "NM_016306.4" "" "NP_057390.1" "" "" "" "-220" "1469" "1077" "186288467" "186303589" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "05427" "ADPKD" "kidney, polycystic, disease, autosomal dominant (ADPKD)" "" "" "" "" "" "00006" "2018-05-08 22:37:08" "" "" "06580" "PKD6" "Polycystic kidney disease 6 with or without polycystic liver disease" "AD" "618061" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "DNAJB11" "05427" "DNAJB11" "06580" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00164037" "" "" "" "3" "" "00006" "{PMID:Cornec-Le Gall 2018:29706351}" "3-generation family, 3 affecteds (3F)" "F" "no" "" "" "0" "" "" "" "29706351-Fam1" "00164038" "" "" "" "4" "" "00006" "{PMID:Cornec-Le Gall 2018:29706351}" "2-generation family, 4 affecteds (3F, M)" "F;M" "no" "" "" "0" "" "" "" "29706351-Fam2" "00164039" "" "" "" "6" "" "00006" "{PMID:Cornec-Le Gall 2018:29706351}" "4-generation family, 6 affecteds (4F, 2M)" "F;M" "no" "" "" "0" "" "" "" "29706351-Fam3" "00164040" "" "" "" "2" "" "00006" "{PMID:Cornec-Le Gall 2018:29706351}" "2-generation family, 2 affecteds (F, M)" "F;M" "no" "" "" "0" "" "" "" "29706351-Fam4" "00164041" "" "" "" "5" "" "00006" "{PMID:Cornec-Le Gall 2018:29706351}" "4-generation family, 5 affecteds (4F, M)" "F;M" "no" "" "" "0" "" "" "" "29706351-Fam5" "00164042" "" "" "" "2" "" "00006" "{PMID:Cornec-Le Gall 2018:29706351}" "3-generation family, 2 affecteds (F, M)" "F;M" "no" "" "" "0" "" "" "" "29706351-Fam6" "00164043" "" "" "" "1" "" "00006" "{PMID:Cornec-Le Gall 2018:29706351}" "2-generation family, affected female" "F" "no" "" "" "0" "" "" "" "29706351-Fam7" "00428021" "" "" "" "1" "" "00006" "{PMID:Bournazos 2022:34906502}" "family, 1 affected" "" "" "Australia" "" "0" "" "" "" "A168" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00164037" "05427" "00164038" "05427" "00164039" "05427" "00164040" "05427" "00164041" "05427" "00164042" "05427" "00164043" "05427" "00428021" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05427, 06580 ## Count = 8 "{{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}}" "0000129147" "05427" "00164037" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000129148" "05427" "00164038" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000129149" "05427" "00164039" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000129150" "05427" "00164040" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000129151" "05427" "00164041" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000129152" "05427" "00164042" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000129153" "05427" "00164043" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000318967" "00198" "00428021" "00006" "Familial, autosomal recessive" "15y" "" "" "" "" "" "" "" "" "" "Nephronophthisis" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000164904" "00164037" "1" "00006" "00006" "2018-05-08 22:40:29" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000164905" "00164038" "1" "00006" "00006" "2018-05-08 22:44:25" "" "" "SEQ" "DNA" "" "" "0000164906" "00164039" "1" "00006" "00006" "2018-05-08 22:48:25" "" "" "SEQ" "DNA" "" "" "0000164907" "00164040" "1" "00006" "00006" "2018-05-08 22:51:20" "" "" "SEQ" "DNA" "" "" "0000164908" "00164041" "1" "00006" "00006" "2018-05-08 22:54:20" "" "" "SEQ" "DNA" "" "" "0000164909" "00164042" "1" "00006" "00006" "2018-05-08 22:57:00" "" "" "SEQ" "DNA" "" "" "0000164910" "00164043" "1" "00006" "00006" "2018-05-08 22:59:20" "" "" "SEQ" "DNA" "" "" "0000429434" "00428021" "1" "00006" "00006" "2022-12-19 13:11:26" "" "" "RT-PCR;SEQ;SEQ-NG-RNA" "DNA;RNA" "urothelial cells" "trio WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000164904" "DNAJB11" "0000164905" "DNAJB11" "0000164906" "DNAJB11" "0000164907" "DNAJB11" "0000164908" "DNAJB11" "0000164909" "DNAJB11" "0000164910" "DNAJB11" ## 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 = 30 "{{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}}" "0000368518" "21" "90" "3" "186289976" "186289976" "subst" "0" "00006" "DNAJB11_000001" "g.186289976C>G" "" "{PMID:Cornec-Le Gall 2018:29706351}" "" "" "" "Germline" "yes" "" "0" "" "" "g.186572187C>G" "" "pathogenic" "" "0000368519" "1" "90" "3" "186289981" "186289982" "ins" "0" "00006" "DNAJB11_000002" "g.186289981_186289982insTT" "" "{PMID:Cornec-Le Gall 2018:29706351}" "" "" "" "Germline" "yes" "" "0" "" "" "g.186572192_186572193insTT" "" "pathogenic" "" "0000368520" "1" "90" "3" "186299182" "186299182" "del" "4.06372E-6" "00006" "DNAJB11_000003" "g.186299182del" "" "{PMID:Cornec-Le Gall 2018:29706351}" "" "479delC" "" "Germline" "yes" "" "0" "" "" "g.186581393del" "" "pathogenic" "" "0000368521" "1" "90" "3" "186293633" "186293633" "subst" "0" "00006" "DNAJB11_000004" "g.186293633T>C" "" "{PMID:Cornec-Le Gall 2018:29706351}" "" "" "" "Germline" "" "" "0" "" "" "g.186575844T>C" "" "pathogenic" "" "0000368522" "1" "90" "3" "186299800" "186299800" "subst" "4.06967E-6" "00006" "DNAJB11_000005" "g.186299800C>T" "" "{PMID:Cornec-Le Gall 2018:29706351}" "" "" "" "Germline" "yes" "" "0" "" "" "g.186582011C>T" "" "pathogenic" "" "0000368523" "1" "90" "3" "186299800" "186299800" "subst" "4.06967E-6" "00006" "DNAJB11_000005" "g.186299800C>T" "" "{PMID:Cornec-Le Gall 2018:29706351}" "" "" "" "Germline" "" "" "0" "" "" "g.186582011C>T" "" "pathogenic" "" "0000368524" "0" "90" "3" "186299800" "186299800" "subst" "4.06967E-6" "00006" "DNAJB11_000005" "g.186299800C>T" "" "{PMID:Cornec-Le Gall 2018:29706351}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.186582011C>T" "" "pathogenic" "" "0000688993" "0" "90" "3" "186299234" "186299234" "del" "0" "02326" "DNAJB11_000006" "g.186299234del" "" "" "" "DNAJB11(NM_016306.5):c.531delC (p.T178Pfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000850197" "0" "10" "3" "186293745" "186293745" "subst" "0.000949648" "02326" "DNAJB11_000007" "g.186293745T>C" "" "" "" "DNAJB11(NM_016306.5):c.323+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000850198" "0" "30" "3" "186301661" "186301661" "subst" "0.000134126" "02326" "DNAJB11_000008" "g.186301661A>G" "" "" "" "DNAJB11(NM_016306.5):c.748A>G (p.I250V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850199" "0" "30" "3" "186302398" "186302411" "dup" "0" "02326" "DNAJB11_000009" "g.186302398_186302411dup" "" "" "" "DNAJB11(NM_016306.5):c.1012+14_1012+27dupGTGTGTGTGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885670" "0" "90" "3" "186288755" "186288755" "subst" "0" "02326" "DNAJB11_000010" "g.186288755G>A" "" "" "" "DNAJB11(NM_016306.5):c.68+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000885671" "0" "30" "3" "186293626" "186293626" "subst" "0.00193953" "02326" "DNAJB11_000011" "g.186293626C>T" "" "" "" "DNAJB11(NM_016306.5):c.226-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885672" "0" "30" "3" "186300497" "186300497" "subst" "0.00131813" "02326" "DNAJB11_000012" "g.186300497C>G" "" "" "" "DNAJB11(NM_016306.5):c.683-8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885673" "0" "30" "3" "186302391" "186302391" "subst" "0" "02326" "DNAJB11_000013" "g.186302391A>T" "" "" "" "DNAJB11(NM_016306.5):c.1012+13A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885674" "0" "30" "3" "186302391" "186302392" "ins" "0" "02326" "DNAJB11_000014" "g.186302391_186302392insTTGTGTGTGTGTGT" "" "" "" "DNAJB11(NM_016306.5):c.1012+13_1012+14insTTGTGTGTGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885675" "0" "30" "3" "186302391" "186302392" "ins" "0" "02326" "DNAJB11_000015" "g.186302391_186302392insTTGTGTGTGTGTGTGT" "" "" "" "DNAJB11(NM_016306.5):c.1012+13_1012+14insTTGTGTGTGTGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885676" "0" "30" "3" "186302408" "186302411" "dup" "0" "02326" "DNAJB11_000016" "g.186302408_186302411dup" "" "" "" "DNAJB11(NM_016306.5):c.1012+30_1012+33dupGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885677" "0" "50" "3" "186303170" "186303170" "subst" "0" "02327" "DNAJB11_000017" "g.186303170G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000908907" "3" "70" "3" "186296198" "186296198" "subst" "0" "00006" "DNAJB11_000018" "g.186296198T>C" "" "{PMID:Bournazos 2022:34906502}" "" "" "pseudo-exon activation; transcripts cycloheximide sensitive, cycloheximide sensitive, cycloheximide sensitive, cycloheximide sensitive, cycloheximide sensitive" "Germline/De novo (untested)" "" "" "0" "" "" "g.186578409T>C" "" "likely pathogenic (recessive)" "" "0000911874" "0" "90" "3" "186300546" "186300546" "subst" "0" "02326" "DNAJB11_000019" "g.186300546C>T" "" "" "" "DNAJB11(NM_016306.5):c.724C>T (p.R242*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000923883" "0" "30" "3" "186302391" "186302392" "ins" "0" "02326" "DNAJB11_000020" "g.186302391_186302392insTTGTGT" "" "" "" "DNAJB11(NM_016306.5):c.1012+13_1012+14insTTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948090" "0" "90" "3" "186289885" "186289885" "subst" "0" "02326" "DNAJB11_000021" "g.186289885C>T" "" "" "" "DNAJB11(NM_016306.5):c.70C>T (p.R24*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000948091" "0" "30" "3" "186302396" "186302411" "dup" "0" "02326" "DNAJB11_000022" "g.186302396_186302411dup" "" "" "" "DNAJB11(NM_016306.5):c.1012+14_1012+29dupGTGTGTGTGTGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962573" "0" "90" "3" "186299800" "186299800" "subst" "4.06967E-6" "02326" "DNAJB11_000005" "g.186299800C>T" "" "" "" "DNAJB11(NM_016306.5):c.616C>T (p.R206*), DNAJB11(NM_016306.6):c.616C>T (p.(Arg206*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000975701" "0" "50" "3" "186299769" "186299769" "subst" "0" "01804" "DNAJB11_000023" "g.186299769T>G" "" "" "" "DNAJB11(NM_016306.4):c.600-15T>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000987906" "0" "70" "3" "186299140" "186299145" "del" "0" "03779" "DNAJB11_000024" "g.186299140_186299145del" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000993485" "0" "30" "3" "186302391" "186302392" "ins" "0" "02326" "DNAJB11_000025" "g.186302391_186302392insTTGTGTGTGTGTGTGTGTGTGTGT" "" "" "" "DNAJB11(NM_016306.5):c.1012+13_1012+14insTTGTGTGTGTGTGTGTGTGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013852" "0" "50" "3" "186289925" "186289925" "subst" "0" "02327" "DNAJB11_000026" "g.186289925C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033847" "0" "90" "3" "186299800" "186299800" "subst" "4.06967E-6" "01804" "DNAJB11_000005" "g.186299800C>T" "" "" "" "DNAJB11(NM_016306.5):c.616C>T (p.R206*), DNAJB11(NM_016306.6):c.616C>T (p.(Arg206*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## 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 DNAJB11 ## Count = 30 "{{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}}" "0000368518" "00006545" "90" "161" "0" "161" "0" "c.161C>G" "r.(?)" "p.(Pro54Arg)" "2" "0000368519" "00006545" "90" "166" "0" "167" "0" "c.166_167insTT" "r.(?)" "p.(Arg56Leufs*40)" "2" "0000368520" "00006545" "90" "479" "0" "479" "0" "c.479del" "r.(?)" "p.(Ala160Glufs*28)" "5" "0000368521" "00006545" "90" "230" "0" "230" "0" "c.230T>C" "r.(?)" "p.(Leu77Pro)" "3" "0000368522" "00006545" "90" "616" "0" "616" "0" "c.616C>T" "r.(?)" "p.(Arg206*)" "6" "0000368523" "00006545" "90" "616" "0" "616" "0" "c.616C>T" "r.(?)" "p.(Arg206*)" "6" "0000368524" "00006545" "90" "616" "0" "616" "0" "c.616C>T" "r.(?)" "p.(Arg206*)" "6" "0000688993" "00006545" "90" "531" "0" "531" "0" "c.531del" "r.(?)" "p.(Thr178ProfsTer10)" "" "0000850197" "00006545" "10" "323" "19" "323" "19" "c.323+19T>C" "r.(=)" "p.(=)" "" "0000850198" "00006545" "30" "748" "0" "748" "0" "c.748A>G" "r.(?)" "p.(Ile250Val)" "" "0000850199" "00006545" "30" "1012" "20" "1012" "33" "c.1012+20_1012+33dup" "r.(=)" "p.(=)" "" "0000885670" "00006545" "90" "68" "1" "68" "1" "c.68+1G>A" "r.spl?" "p.?" "" "0000885671" "00006545" "30" "226" "-3" "226" "-3" "c.226-3C>T" "r.spl?" "p.?" "" "0000885672" "00006545" "30" "683" "-8" "683" "-8" "c.683-8C>G" "r.(=)" "p.(=)" "" "0000885673" "00006545" "30" "1012" "13" "1012" "13" "c.1012+13A>T" "r.(=)" "p.(=)" "" "0000885674" "00006545" "30" "1012" "13" "1012" "14" "c.1012+13_1012+14insTTGTGTGTGTGTGT" "r.(=)" "p.(=)" "" "0000885675" "00006545" "30" "1012" "13" "1012" "14" "c.1012+13_1012+14insTTGTGTGTGTGTGTGT" "r.(=)" "p.(=)" "" "0000885676" "00006545" "30" "1012" "30" "1012" "33" "c.1012+30_1012+33dup" "r.(=)" "p.(=)" "" "0000885677" "00006545" "50" "1050" "0" "1050" "0" "c.1050G>C" "r.(?)" "p.(Lys350Asn)" "" "0000908907" "00006545" "70" "456" "609" "456" "609" "c.456+609T>C" "r.[456_457ins[456+565_456+608;c;456+610_456+620],456_457ins[457-1490_457-1267],456_457ins[456+185_456+267;456+565_456+608;c;456+610_456+620],456_457ins[456+565_456+608;c;456+610_456+620;457-1490_457-1267],457_460delins[456+565_456+608;c;456+610_456+620]]" "p.[Val154Glnfs*19,Val153Phefs*11,Val153Leufs*4,Val154Glnfs*53,Val154Glnfs*19]" "" "0000911874" "00006545" "90" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Arg242*)" "" "0000923883" "00006545" "30" "1012" "13" "1012" "14" "c.1012+13_1012+14insTTGTGT" "r.(=)" "p.(=)" "" "0000948090" "00006545" "90" "70" "0" "70" "0" "c.70C>T" "r.(?)" "p.(Arg24*)" "" "0000948091" "00006545" "30" "1012" "18" "1012" "33" "c.1012+18_1012+33dup" "r.(=)" "p.(=)" "" "0000962573" "00006545" "90" "616" "0" "616" "0" "c.616C>T" "r.(?)" "p.(Arg206*)" "" "0000975701" "00006545" "50" "600" "-15" "600" "-15" "c.600-15T>G" "r.(=)" "p.(=)" "" "0000987906" "00006545" "70" "457" "-20" "457" "-15" "c.457-20_457-15del" "r.(?)" "p.(?)" "" "0000993485" "00006545" "30" "1012" "13" "1012" "14" "c.1012+13_1012+14insTTGTGTGTGTGTGTGTGTGTGTGT" "r.(=)" "p.(=)" "" "0001013852" "00006545" "50" "110" "0" "110" "0" "c.110C>T" "r.(?)" "p.(Ser37Phe)" "" "0001033847" "00006545" "90" "616" "0" "616" "0" "c.616C>T" "r.(?)" "p.(Arg206*)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000164904" "0000368518" "0000164905" "0000368519" "0000164906" "0000368520" "0000164907" "0000368521" "0000164908" "0000368522" "0000164909" "0000368523" "0000164910" "0000368524" "0000429434" "0000908907"