### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = WDR26) # 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}}" "WDR26" "WD repeat domain 26" "1" "q42.13" "unknown" "NG_047198.1" "UD_136022988812" "" "https://www.LOVD.nl/WDR26" "" "1" "21208" "80232" "0" "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/WDR26_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-03-09 10:45:18" "00006" "2026-03-17 11:57:38" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00022755" "WDR26" "transcript variant 1" "002" "NM_025160.6" "" "NP_079436.4" "" "" "" "-194" "6678" "1986" "224622001" "224572845" "" "0000-00-00 00:00:00" "" "" "00026072" "WDR26" "transcript variant 3 (removed from reference sequence)" "000" "NM_001379403.1" "" "NP_001366332.1" "" "" "MANE select" "-392" "6975" "2286" "1" "1" "00006" "2026-03-17 10:41:10" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{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" "05405" "SKDEAS" "Skraban-Deardorff syndrome (SKDEAS)" "AD" "617616" "" "autosomal dominant" "" "00006" "2018-03-09 10:47:09" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "WDR26" "05405" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00154954" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00295623" "" "" "" "1" "" "01864" "" "" "F" "" "China" "" "0" "" "physical training" "Chinese" "NGS_6549_BW_C" "00435243" "" "" "" "1" "" "01164" "" "" "F" "no" "Italy" "" "0" "" "" "" "260589" "00443884" "" "" "" "1" "" "01164" "" "" "M" "no" "(Spain)" "" "0" "" "" "" "276855" "00474390" "" "" "" "1" "" "00006" "{PMID:Oquendo 2024:39252027}" "RNA analysis VUS classified variant" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "S012" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00154954" "00198" "00295623" "05405" "00435243" "05405" "00443884" "05405" "00474390" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05405 ## Count = 4 "{{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}}" "0000127686" "00198" "00154954" "01807" "Unknown" "" "Delayed speech and language development (HP:0000750); Motor delay (HP:0001270); Stereotypy (HP:0000733); Joint hypermobility (HP:0001382)" "" "" "" "" "" "" "" "" "" "" "" "0000223189" "05405" "00295623" "01864" "Familial, autosomal dominant" "10y09m" "Clinical features of our patient were intellectual disability with delayed speech, developmental delay, gait abnormalities, and characteristic facial phenotype, but absence of seizures and autism." "01y" "11y" "developmental delay" "WDR26" "" "" "" "" "WDR26 haploinsufficiency" "WDR26 haploinsufficiency" "" "0000325439" "05405" "00435243" "01164" "Unknown" "01y" "Synophrys, Motor delay, Delayed speech and language development, Ventriculomegaly" "" "" "" "" "" "" "" "" "" "" "" "0000333161" "05405" "00443884" "01164" "Isolated (sporadic)" "05y" "Autistic behavior, Delayed speech and language development, Generalized non-motor (absence) seizure, Neurodevelopmental delay" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000155815" "00154954" "0" "01807" "01807" "2018-03-07 03:58:32" "" "" "SEQ" "DNA" "" "" "0000296794" "00295623" "1" "01864" "01864" "2020-03-20 13:34:26" "" "" "SEQ-NG-I" "DNA" "white blood cell" "WES" "0000436722" "00435243" "1" "01164" "01164" "2023-06-21 11:23:43" "" "" "SEQ-NG-I" "DNA" "" "" "0000445381" "00443884" "1" "01164" "01164" "2023-12-05 14:52:37" "" "" "SEQ-NG-I" "DNA" "" "" "0000476072" "00474390" "1" "00006" "00006" "2026-03-17 10:16:06" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000296794" "WDR26" "0000436722" "WDR26" "0000445381" "WDR26" "0000476072" "WDR26" ## 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 = 42 "{{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}}" "0000321307" "0" "70" "1" "224581527" "224581527" "subst" "0" "01804" "WDR26_000001" "g.224581527T>C" "" "" "" "WDR26(NM_025160.6):c.1960+3A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.224393825T>C" "" "likely pathogenic" "" "0000349715" "0" "90" "1" "224619392" "224619392" "subst" "0" "02327" "WDR26_000002" "g.224619392A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.224431690A>T" "" "pathogenic" "" "0000356896" "0" "90" "1" "224586256" "224586256" "dup" "0" "01807" "WDR26_000003" "g.224586256dup" "" "" "" "1610dupA" "" "Unknown" "" "" "0" "" "" "g.224398554dup" "" "pathogenic" "" "0000505675" "0" "50" "1" "224592197" "224592197" "subst" "0" "01943" "WDR26_000004" "g.224592197C>G" "" "" "" "WDR26(NM_025160.6):c.1234G>C (p.D412H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.224404495C>G" "" "VUS" "" "0000505676" "0" "70" "1" "224619293" "224619293" "subst" "0" "02327" "CNIH3_000001" "g.224619293T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.224431591T>C" "" "likely pathogenic" "" "0000605222" "0" "50" "1" "224605969" "224605969" "subst" "0" "02325" "WDR26_000005" "g.224605969A>G" "" "" "" "WDR26(NM_025160.7):c.1012T>C (p.C338R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.224418267A>G" "" "VUS" "" "0000620529" "0" "90" "1" "224606072" "224606073" "del" "0" "02325" "WDR26_000006" "g.224606072_224606073del" "" "" "" "WDR26(NM_025160.7):c.911_912delTC (p.L304Pfs*20)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.224418370_224418371del" "" "pathogenic" "" "0000620531" "0" "30" "1" "224621505" "224621505" "subst" "0.000436694" "01943" "CNIH3_000004" "g.224621505G>A" "" "" "" "WDR26(NM_025160.6):c.303C>T (p.A101=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.224433803G>A" "" "likely benign" "" "0000653505" "0" "90" "1" "224606005" "224606005" "del" "0" "01864" "WDR26_000007" "g.224606005del" "" "" "" "18732delA" "" "De novo" "yes" "" "0" "" "" "g.224418303del" "" "pathogenic" "" "0000675677" "0" "90" "1" "224586229" "224586229" "del" "0" "01943" "WDR26_000008" "g.224586229del" "" "" "" "WDR26(NM_025160.6):c.1632delT (p.N544Kfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000675678" "0" "90" "1" "224588772" "224588772" "subst" "0" "01943" "WDR26_000009" "g.224588772C>T" "" "" "" "WDR26(NM_025160.6):c.1300-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000688038" "0" "50" "1" "224585892" "224585892" "subst" "0" "02325" "WDR26_000010" "g.224585892C>A" "" "" "" "WDR26(NM_025160.7):c.1681G>T (p.V561L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688039" "0" "30" "1" "224619194" "224619194" "subst" "0" "02325" "CNIH3_000005" "g.224619194C>T" "" "" "" "WDR26(NM_025160.7):c.612G>A (p.L204=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688040" "0" "30" "1" "224621619" "224621619" "subst" "0" "01943" "CNIH3_000006" "g.224621619G>C" "" "" "" "WDR26(NM_025160.6):c.189C>G (p.A63=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717210" "0" "90" "1" "224621462" "224621462" "subst" "0" "02329" "CNIH3_000003" "g.224621462T>A" "" "" "" "WDR26(NM_001115113.3):c.346A>T (p.K116*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000717211" "0" "90" "1" "224621658" "224621658" "del" "0" "02327" "CNIH3_000007" "g.224621658del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000799131" "0" "30" "1" "224586704" "224586704" "subst" "0" "01943" "WDR26_000011" "g.224586704T>C" "" "" "" "WDR26(NM_025160.6):c.1452A>G (p.E484=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799132" "0" "30" "1" "224588736" "224588736" "subst" "0.00196077" "01943" "WDR26_000012" "g.224588736A>G" "" "" "" "WDR26(NM_001115113.3):c.1287T>C (p.H429=), WDR26(NM_001379403.1):c.1635T>C (p.H545=), WDR26(NM_025160.6):c.1335T>C (p.H445=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799133" "0" "30" "1" "224607296" "224607296" "subst" "0.00017066" "01943" "WDR26_000013" "g.224607296T>C" "" "" "" "WDR26(NM_025160.6):c.786A>G (p.A262=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799134" "0" "50" "1" "224619415" "224619415" "subst" "0" "02327" "CNIH3_000008" "g.224619415C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799135" "0" "30" "1" "224621582" "224621582" "subst" "0.000266944" "01943" "CNIH3_000009" "g.224621582C>T" "" "" "" "WDR26(NM_025160.6):c.226G>A (p.V76I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848563" "0" "50" "1" "224619207" "224619207" "subst" "0" "02327" "CNIH3_000010" "g.224619207A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883171" "0" "70" "1" "224605965" "224605965" "del" "0" "02327" "WDR26_000015" "g.224605965del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000910951" "0" "50" "1" "224592226" "224592226" "subst" "0" "02327" "WDR26_000017" "g.224592226T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000910952" "0" "50" "1" "224621638" "224621638" "subst" "2.19411E-5" "02327" "CNIH3_000011" "g.224621638T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923087" "0" "90" "1" "224599233" "224599234" "ins" "0" "02325" "WDR26_000018" "g.224599233_224599234insCT" "" "" "" "WDR26(NM_025160.7):c.1054_1055insGA (p.T352Rfs*20)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000927846" "0" "50" "1" "224586689" "224586689" "subst" "0" "01164" "WDR26_000019" "g.224586689T>A" "" "" "" "" "ACMG: PM2_SUP, PP2" "Germline" "?" "" "" "" "" "g.224398987T>A" "" "VUS" "ACMG" "0000928119" "0" "50" "1" "224592221" "224592221" "subst" "0" "02327" "WDR26_000020" "g.224592221C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000952374" "0" "50" "1" "224588714" "224588714" "subst" "0" "01164" "WDR26_000021" "g.224588714C>A" "" "" "" "" "ACMG: PS2_SUP, PM2_SUP, PP2, (BP4). Confirmed de novo in trio exome" "De novo" "-" "" "" "" "" "g.224401012C>A" "" "VUS (!)" "ACMG" "0000960865" "0" "30" "1" "224588736" "224588736" "subst" "0.00196077" "02329" "WDR26_000012" "g.224588736A>G" "" "" "" "WDR26(NM_001115113.3):c.1287T>C (p.H429=), WDR26(NM_001379403.1):c.1635T>C (p.H545=), WDR26(NM_025160.6):c.1335T>C (p.H445=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973686" "0" "30" "1" "224585667" "224585667" "subst" "0" "01804" "WDR26_000022" "g.224585667A>C" "" "" "" "WDR26(NM_001379403.1):c.2074+132T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990878" "0" "30" "1" "224621627" "224621627" "subst" "0" "01804" "CNIH3_000013" "g.224621627G>A" "" "" "" "WDR26(NM_025160.6):c.181C>T (p.(Pro61Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990879" "0" "30" "1" "224621792" "224621792" "subst" "0" "01804" "CNIH3_000014" "g.224621792C>T" "" "" "" "WDR26(NM_001115113.2):c.16G>A (p.(Ala6Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031732" "0" "30" "1" "224577608" "224577609" "ins" "0" "01804" "WDR26_000023" "g.224577608_224577609insC" "" "" "" "WDR26(NM_001379403.1):c.2261-47_2261-46insG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031733" "0" "30" "1" "224606916" "224606916" "subst" "0" "01804" "WDR26_000024" "g.224606916A>T" "" "" "" "WDR26(NM_001379403.1):c.1162+304T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031734" "0" "30" "1" "224621772" "224621774" "del" "0" "01804" "CNIH3_000015" "g.224621772_224621774del" "" "" "" "WDR26(NM_001379403.1):c.336_338del (p.(Gly125del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001050436" "0" "50" "1" "224599247" "224599247" "subst" "1.23923E-5" "01804" "WDR26_000025" "g.224599247G>A" "" "" "" "WDR26(NM_001379403.1):c.1340C>T (p.(Thr447Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050437" "0" "50" "1" "224621745" "224621768" "dup" "0" "01804" "CNIH3_000016" "g.224621745_224621768dup" "" "" "" "WDR26(NM_001379403.1):c.348_371dup (p.(Gly118_Gly125dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050438" "0" "50" "1" "224621786" "224621786" "subst" "0" "01804" "CNIH3_000017" "g.224621786C>T" "" "" "" "WDR26(NM_001379403.1):c.322G>A (p.(Gly108Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050439" "0" "50" "1" "224621894" "224621894" "subst" "0" "01804" "CNIH3_000018" "g.224621894C>A" "" "" "" "WDR26(NM_001379403.1):c.214G>T (p.(Val72Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001063287" "0" "50" "1" "224581635" "224581635" "subst" "0" "02325" "WDR26_000026" "g.224581635C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001070821" "0" "50" "1" "224619293" "224619293" "subst" "0" "00006" "CNIH3_000001" "g.224619293T>C" "" "{PMID:Oquendo 2024:39252027}" "" "" "creation aternative splice acceptor site intron 2" "Germline/De novo (untested)" "" "" "0" "" "" "g.224431591T>C" "" "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 WDR26 ## Count = 43 "{{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}}" "0000321307" "00022755" "70" "1960" "3" "1960" "3" "c.1960+3A>G" "r.spl?" "p.?" "" "0000349715" "00022755" "90" "514" "0" "514" "0" "c.514T>A" "r.(?)" "p.(Trp172Arg)" "" "0000356896" "00022755" "90" "1610" "0" "1610" "0" "c.1610dup" "r.(?)" "p.(Asn537Lysfs*46)" "11" "0000505675" "00022755" "50" "1234" "0" "1234" "0" "c.1234G>C" "r.(?)" "p.(Asp412His)" "" "0000505676" "00022755" "70" "523" "-10" "523" "-10" "c.523-10A>G" "r.(=)" "p.(=)" "" "0000605222" "00022755" "50" "1012" "0" "1012" "0" "c.1012T>C" "r.(?)" "p.(Cys338Arg)" "" "0000620529" "00022755" "90" "911" "0" "912" "0" "c.911_912del" "r.(?)" "p.(Leu304ProfsTer20)" "" "0000620531" "00022755" "30" "303" "0" "303" "0" "c.303C>T" "r.(?)" "p.(Ala101=)" "" "0000653505" "00022755" "90" "977" "0" "977" "0" "c.977del" "r.(?)" "p.(Asn326Ilefs*2)" "6" "0000675677" "00022755" "90" "1632" "0" "1632" "0" "c.1632del" "r.(?)" "p.(Asn544LysfsTer2)" "" "0000675678" "00022755" "90" "1300" "-1" "1300" "-1" "c.1300-1G>A" "r.spl?" "p.?" "" "0000688038" "00022755" "50" "1681" "0" "1681" "0" "c.1681G>T" "r.(?)" "p.(Val561Leu)" "" "0000688039" "00022755" "30" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Leu204=)" "" "0000688040" "00022755" "30" "189" "0" "189" "0" "c.189C>G" "r.(?)" "p.(Ala63=)" "" "0000717210" "00022755" "90" "346" "0" "346" "0" "c.346A>T" "r.(?)" "p.(Lys116Ter)" "" "0000717211" "00022755" "90" "154" "0" "154" "0" "c.154del" "r.(?)" "p.(Asp52Thrfs*23)" "" "0000799131" "00022755" "30" "1452" "0" "1452" "0" "c.1452A>G" "r.(?)" "p.(Glu484=)" "" "0000799132" "00022755" "30" "1335" "0" "1335" "0" "c.1335T>C" "r.(?)" "p.(His445=)" "" "0000799133" "00022755" "30" "786" "0" "786" "0" "c.786A>G" "r.(?)" "p.(Ala262=)" "" "0000799134" "00022755" "50" "491" "0" "491" "0" "c.491G>A" "r.(?)" "p.(Arg164Gln)" "" "0000799135" "00022755" "30" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Val76Ile)" "" "0000848563" "00022755" "50" "599" "0" "599" "0" "c.599T>A" "r.(?)" "p.(Ile200Asn)" "" "0000883171" "00022755" "70" "1016" "0" "1016" "0" "c.1016del" "r.(?)" "p.(Ser339Ilefs*32)" "" "0000910951" "00022755" "50" "1205" "0" "1205" "0" "c.1205A>G" "r.(?)" "p.(Tyr402Cys)" "" "0000910952" "00022755" "50" "170" "0" "170" "0" "c.170A>G" "r.(?)" "p.(Asn57Ser)" "" "0000923087" "00022755" "90" "1054" "0" "1055" "0" "c.1054_1055insGA" "r.(?)" "p.(Thr352Argfs*20)" "" "0000927846" "00022755" "50" "1467" "0" "1467" "0" "c.1467A>T" "r.(?)" "p.(Gln489His)" "" "0000928119" "00022755" "50" "1210" "0" "1210" "0" "c.1210G>A" "r.(?)" "p.(Val404Ile)" "" "0000952374" "00022755" "50" "1357" "0" "1357" "0" "c.1357G>T" "r.(?)" "p.(Ala453Ser)" "" "0000960865" "00022755" "30" "1335" "0" "1335" "0" "c.1335T>C" "r.(?)" "p.(His445=)" "" "0000973686" "00022755" "30" "1774" "132" "1774" "132" "c.1774+132T>G" "r.(=)" "p.(=)" "" "0000990878" "00022755" "30" "181" "0" "181" "0" "c.181C>T" "r.(?)" "p.(Pro61Ser)" "" "0000990879" "00022755" "30" "16" "0" "16" "0" "c.16G>A" "r.(?)" "p.(Ala6Thr)" "" "0001031732" "00022755" "30" "1961" "-47" "1961" "-46" "c.1961-47_1961-46insG" "r.(=)" "p.(=)" "" "0001031733" "00022755" "30" "862" "304" "862" "304" "c.862+304T>A" "r.(=)" "p.(=)" "" "0001031734" "00022755" "30" "36" "0" "38" "0" "c.36_38del" "r.(?)" "p.(Gly25del)" "" "0001050436" "00022755" "50" "1040" "0" "1040" "0" "c.1040C>T" "r.(?)" "p.(Thr347Met)" "" "0001050437" "00022755" "50" "48" "0" "71" "0" "c.48_71dup" "r.(?)" "p.(Gly18_Gly25dup)" "" "0001050438" "00022755" "50" "22" "0" "22" "0" "c.22G>A" "r.(?)" "p.(Gly8Arg)" "" "0001050439" "00022755" "50" "-87" "0" "-87" "0" "c.-87G>T" "r.(?)" "p.(=)" "" "0001063287" "00022755" "50" "1855" "0" "1855" "0" "c.1855G>A" "r.(?)" "p.(Val619Met)" "" "0001070821" "00026072" "50" "823" "-10" "823" "-10" "c.823-10A>G" "r.822_823ins823-9_823-1" "p.Lys274_Ala275insPheLeuGln" "" "0001070821" "00022755" "50" "523" "-10" "523" "-10" "c.523-10A>G" "r.522_523ins523-9_523-1" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000155815" "0000356896" "0000296794" "0000653505" "0000436722" "0000927846" "0000445381" "0000952374" "0000476072" "0001070821"