### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = WDR81) # 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}}" "WDR81" "WD repeat domain 81" "17" "p13.3" "unknown" "NG_032811.1" "UD_132438140432" "" "http://www.LOVD.nl/WDR81" "" "1" "26600" "124997" "614218" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/WDR81_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-06-12 11:40:24" "00000" "2026-01-20 18:57:21" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00024143" "WDR81" "transcript variant 1" "005" "NM_001163809.1" "" "NP_001157281.1" "" "" "" "-129" "6740" "5826" "1628125" "1641893" "00006" "2016-06-12 11:39:48" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00721" "CAMRQ2" "ataxia, cerebellar, mental retardation, and dysequilibrium syndrome, type 2 (CAMRQ-2)" "AR" "610185" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04201" "SCAR" "ataxia, spinocerebellar, autosomal recessive" "AR" "" "" "" "" "00006" "2015-02-20 09:53:55" "00006" "2021-12-10 21:51:32" "05599" "CAMRQ" "ataxia, cerebellar, mental retardation, quadrupedal locomotion (CAMRQ)" "" "" "" "" "" "00006" "2019-05-24 09:17:46" "" "" "06353" "HYC3" "Hydrocephalus, congenital, 3, with brain anomalies" "AR" "617967" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "07210" "scoliosis" "scoliosis" "" "" "" "" "" "00006" "2025-12-05 11:13:58" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "WDR81" "00139" "WDR81" "00721" "WDR81" "05599" "WDR81" "06353" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00073159" "" "" "" "1" "" "01400" "ATX478" "" "F" "" "France" "" "0" "" "" "" "" "00080793" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "no information from parents" "" "" "" "" "0" "" "" "" "" "00080872" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00225674" "" "" "" "1" "" "00006" "{PMID:Alazami 2015:25558065}, {DOI:Alazami 2015:10.1016/j.celrep.2014.12.015}" "" "" "yes" "Saudi Arabia" "" "0" "" "" "" "25558065-Fam13DG0010" "00291644" "" "" "" "183" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00301735" "" "" "" "1" "" "00006" "{PMID:Maddirevula 2019:30237576}" "" "" "yes" "Saudi Arabia" "" "0" "" "" "" "17-8378" "00304567" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307982" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:28940097}" "simplex case" "M" "" "" "" "0" "" "" "" "17DG0783" "00361545" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "familial" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "13DG0010" "00426169" "" "" "" "1" "" "00006" "{PMID:Al-Kasbi 2022:36344539}" "patient, other affecteds in family" "M" "" "Oman" "" "0" "" "" "" "10SS12400" "00470640" "" "" "" "1" "" "00006" "{PMID:Horbacz 2025:41210864}" "patient, affected maternal uncle" "M" "" "Poland" "" "0" "" "" "" "Pat1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00073159" "04201" "00080793" "00721" "00080872" "00721" "00225674" "00198" "00291644" "00198" "00301735" "00198" "00304567" "00198" "00307982" "00139" "00361545" "00139" "00426169" "00139" "00470640" "07210" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00721, 04201, 05599, 06353, 07210 ## Count = 9 "{{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}}" "0000053278" "04201" "00073159" "01400" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060362" "00721" "00080793" "01758" "Familial, autosomal recessive" "" "Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 (OMIM:610185)" "" "" "" "" "" "" "" "" "" "" "" "0000060441" "00721" "00080872" "01758" "Familial, autosomal recessive" "" "Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 (OMIM:610185)" "" "" "" "" "" "" "" "" "" "" "" "0000170780" "00198" "00225674" "00006" "Familial, autosomal recessive" "" "see paper; …, neonatal death due to severe brain malformation (hydranencephaly and severe cerebellar hypoplasia)" "" "" "" "" "" "" "" "" "" "neurogenetic disorder" "" "0000228833" "00198" "00301735" "00006" "Familial, autosomal recessive" "35y" "two children died with severe hydrocephalus, 2 healthy children" "" "" "" "" "" "" "" "" "" "" "" "0000233405" "00139" "00307982" "00006" "Familial, autosomal recessive" "1y10m" "see paper; ..., Global developmental delay, Developmental regression, Microcephaly, Dandy-Walker malformation, Spasticity, Failure to thrive" "" "" "" "" "" "" "" "" "" "intellectual diability" "" "0000256950" "00139" "00361545" "00006" "Familial, autosomal recessive" "0y7m" "not syndromic; intellectual disability and ataxia" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000317319" "00139" "00426169" "00006" "Familial, autosomal recessive" "17y" "" "" "" "" "" "" "" "" "" "Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2" "intellectual disability" "" "0000355534" "07210" "00470640" "00006" "Familial" "13y" "see paper; ... scoliosis, no other skeletal defects; back pain;" "" "" "" "" "" "" "" "" "" "severe adolescent idiopathic scoliosis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000073318" "00073159" "1" "01400" "01400" "2016-06-08 15:49:35" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000080905" "00080793" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000080984" "00080872" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000226741" "00225674" "1" "00006" "00006" "2019-02-22 18:37:24" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000292812" "00291644" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000302859" "00301735" "1" "00006" "00006" "2020-05-22 17:20:34" "" "" "SEQ-NG" "DNA" "" "WES" "0000305696" "00304567" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309126" "00307982" "1" "00006" "00006" "2020-08-23 13:31:08" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical WES" "0000362773" "00361545" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000427489" "00426169" "1" "00006" "00006" "2022-11-28 11:02:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000472307" "00470640" "1" "00006" "00006" "2025-12-05 11:16:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000073318" "GBE1" "0000073318" "WDR81" "0000080905" "WDR81" "0000080984" "WDR81" "0000226741" "WDR81" "0000302859" "WDR81" "0000309126" "WDR81" "0000362773" "WDR81" ## 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 = 154 "{{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}}" "0000116952" "0" "50" "17" "1629526" "1629526" "subst" "0" "01400" "WDR81_000001" "g.1629526G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.1726232G>A" "" "VUS" "" "0000116953" "0" "50" "17" "1637174" "1637174" "subst" "0.00387929" "01400" "WDR81_000002" "g.1637174G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.1733880G>A" "" "VUS" "" "0000129979" "3" "70" "17" "1634392" "1634392" "subst" "8.20466E-6" "01758" "WDR81_000004" "g.1634392C>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.1731098C>T" "" "likely pathogenic" "ACMG" "0000130070" "3" "70" "17" "1629103" "1629104" "dup" "0" "01758" "WDR81_000003" "g.1629103_1629104del" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.1725809_1725810del" "" "likely pathogenic" "ACMG" "0000247971" "0" "10" "17" "1637302" "1637302" "subst" "0.748642" "02325" "WDR81_000038" "g.1637302A>G" "" "" "" "WDR81(NM_001163809.1):c.4971A>G (p.L1657=), WDR81(NM_001163809.2):c.4971A>G (p.L1657=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1734008A>G" "" "benign" "" "0000248686" "0" "10" "17" "1630584" "1630584" "subst" "0.271269" "02325" "WDR81_000016" "g.1630584A>G" "" "" "" "WDR81(NM_001163809.2):c.2331A>G (p.L777=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1727290A>G" "" "benign" "" "0000248687" "0" "10" "17" "1637074" "1637074" "subst" "0.511462" "02325" "WDR81_000035" "g.1637074A>G" "" "" "" "WDR81(NM_001163809.2):c.4743A>G (p.P1581=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1733780A>G" "" "benign" "" "0000248688" "0" "10" "17" "1639458" "1639458" "subst" "0.730495" "02325" "WDR81_000046" "g.1639458A>G" "" "" "" "WDR81(NM_001163809.2):c.5451A>G (p.T1817=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1736164A>G" "" "benign" "" "0000248843" "0" "10" "17" "1636934" "1636934" "subst" "0.272572" "02325" "WDR81_000032" "g.1636934A>G" "" "" "" "WDR81(NM_001163809.2):c.4603A>G (p.M1535V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1733640A>G" "" "benign" "" "0000253232" "0" "10" "17" "1637302" "1637302" "subst" "0.748642" "01943" "WDR81_000038" "g.1637302A>G" "" "" "" "WDR81(NM_001163809.1):c.4971A>G (p.L1657=), WDR81(NM_001163809.2):c.4971A>G (p.L1657=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1734008A>G" "" "benign" "" "0000313075" "0" "10" "17" "1630208" "1630208" "subst" "0.256064" "02325" "WDR81_000010" "g.1630208C>T" "" "" "" "WDR81(NM_001163809.2):c.1955C>T (p.P652L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1726914C>T" "" "benign" "" "0000313076" "0" "10" "17" "1630395" "1630395" "subst" "0.265793" "02325" "WDR81_000014" "g.1630395T>C" "" "" "" "WDR81(NM_001163809.2):c.2142T>C (p.G714=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1727101T>C" "" "benign" "" "0000313077" "0" "10" "17" "1635614" "1635614" "subst" "0.286127" "02325" "WDR81_000029" "g.1635614T>C" "" "" "" "WDR81(NM_001163809.2):c.4158-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1732320T>C" "" "benign" "" "0000313078" "0" "10" "17" "1637458" "1637458" "subst" "0.244398" "02325" "WDR81_000041" "g.1637458G>A" "" "" "" "WDR81(NM_001163809.1):c.5127G>A (p.P1709=), WDR81(NM_001163809.2):c.5127G>A (p.P1709=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1734164G>A" "" "benign" "" "0000313079" "0" "50" "17" "1639381" "1639381" "subst" "1.68262E-5" "02325" "WDR81_000045" "g.1639381C>G" "" "" "" "WDR81(NM_001163809.2):c.5374C>G (p.L1792V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1736087C>G" "" "VUS" "" "0000315400" "0" "30" "17" "1631762" "1631762" "subst" "4.2172E-5" "02326" "WDR81_000023" "g.1631762G>A" "" "" "" "WDR81(NM_001163809.2):c.3509G>A (p.G1170E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1728468G>A" "" "likely benign" "" "0000319904" "0" "50" "17" "1629467" "1629467" "subst" "0" "01943" "WDR81_000008" "g.1629467G>C" "" "" "" "WDR81(NM_001163809.1):c.1214G>C (p.R405P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1726173G>C" "" "VUS" "" "0000319905" "0" "30" "17" "1630389" "1630389" "subst" "0.00138367" "01943" "WDR81_000013" "g.1630389G>A" "" "" "" "WDR81(NM_001163809.1):c.2136G>A (p.G712=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1727095G>A" "" "likely benign" "" "0000319906" "0" "30" "17" "1630507" "1630507" "subst" "0.0014193" "01943" "WDR81_000015" "g.1630507C>T" "" "" "" "WDR81(NM_001163809.1):c.2254C>T (p.P752S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1727213C>T" "" "likely benign" "" "0000319907" "0" "50" "17" "1630886" "1630886" "subst" "5.31004E-5" "01943" "WDR81_000017" "g.1630886C>T" "" "" "" "WDR81(NM_001163809.1):c.2633C>T (p.P878L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1727592C>T" "" "VUS" "" "0000319908" "0" "30" "17" "1631124" "1631124" "subst" "0.00141135" "01943" "WDR81_000019" "g.1631124T>C" "" "" "" "WDR81(NM_001163809.1):c.2871T>C (p.N957=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1727830T>C" "" "likely benign" "" "0000319909" "0" "30" "17" "1631304" "1631304" "subst" "0" "01943" "WDR81_000020" "g.1631304C>T" "" "" "" "WDR81(NM_001163809.1):c.3051C>T (p.A1017=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1728010C>T" "" "likely benign" "" "0000319910" "0" "50" "17" "1631700" "1631700" "subst" "0.000312" "01943" "WDR81_000022" "g.1631700C>A" "" "" "" "WDR81(NM_001163809.1):c.3447C>A (p.S1149R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1728406C>A" "" "VUS" "" "0000319911" "0" "30" "17" "1631781" "1631781" "subst" "0.00172218" "01943" "WDR81_000024" "g.1631781C>T" "" "" "" "WDR81(NM_001163809.1):c.3528C>T (p.T1176=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1728487C>T" "" "likely benign" "" "0000319912" "0" "30" "17" "1634143" "1634143" "subst" "4.11699E-6" "01943" "WDR81_000025" "g.1634143C>T" "" "" "" "WDR81(NM_001163809.1):c.3870C>T (p.I1290=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1730849C>T" "" "likely benign" "" "0000319913" "0" "30" "17" "1634151" "1634151" "subst" "3.29478E-5" "01943" "WDR81_000026" "g.1634151G>A" "" "" "" "WDR81(NM_001163809.1):c.3878G>A (p.G1293E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1730857G>A" "" "likely benign" "" "0000319914" "0" "30" "17" "1634424" "1634424" "subst" "3.67035E-5" "01943" "WDR81_000027" "g.1634424G>A" "" "" "" "WDR81(NM_001163809.1):c.4029G>A (p.L1343=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1731130G>A" "" "likely benign" "" "0000319915" "0" "30" "17" "1635952" "1635952" "subst" "0.00273467" "01943" "WDR81_000031" "g.1635952G>A" "" "" "" "WDR81(NM_001163809.1):c.4324-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1732658G>A" "" "likely benign" "" "0000319916" "0" "30" "17" "1636937" "1636937" "subst" "1.26786E-5" "01943" "WDR81_000033" "g.1636937C>G" "" "" "" "WDR81(NM_001163809.1):c.4606C>G (p.P1536A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1733643C>G" "" "likely benign" "" "0000319917" "0" "30" "17" "1636939" "1636939" "subst" "0.000173124" "01943" "WDR81_000034" "g.1636939C>T" "" "" "" "WDR81(NM_001163809.1):c.4608C>T (p.P1536=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1733645C>T" "" "likely benign" "" "0000319918" "0" "50" "17" "1637126" "1637126" "subst" "9.83357E-5" "01943" "WDR81_000036" "g.1637126G>A" "" "" "" "WDR81(NM_001163673.1):c.1186G>A (p.(Asp396Asn)), WDR81(NM_001163809.1):c.4795G>A (p.D1599N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1733832G>A" "" "VUS" "" "0000319919" "0" "10" "17" "1637174" "1637174" "subst" "0.00387929" "01943" "WDR81_000002" "g.1637174G>A" "" "" "" "WDR81(NM_001163809.1):c.4843G>A (p.G1615R), WDR81(NM_001163809.2):c.4843G>A (p.G1615R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1733880G>A" "" "benign" "" "0000319920" "0" "30" "17" "1637200" "1637200" "subst" "0.000886518" "01943" "WDR81_000037" "g.1637200C>T" "" "" "" "WDR81(NM_001163809.1):c.4869C>T (p.Y1623=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1733906C>T" "" "likely benign" "" "0000319921" "0" "50" "17" "1637375" "1637375" "subst" "0" "01943" "WDR81_000040" "g.1637375G>A" "" "" "" "WDR81(NM_001163809.1):c.5044G>A (p.D1682N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1734081G>A" "" "VUS" "" "0000319922" "0" "10" "17" "1637458" "1637458" "subst" "0.244398" "01943" "WDR81_000041" "g.1637458G>A" "" "" "" "WDR81(NM_001163809.1):c.5127G>A (p.P1709=), WDR81(NM_001163809.2):c.5127G>A (p.P1709=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1734164G>A" "" "benign" "" "0000319923" "0" "50" "17" "1638917" "1638917" "subst" "0.000608819" "01943" "WDR81_000042" "g.1638917C>T" "" "" "" "WDR81(NM_001163809.1):c.5231C>T (p.A1744V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1735623C>T" "" "VUS" "" "0000319924" "0" "10" "17" "1639017" "1639017" "subst" "0.00205864" "01943" "WDR81_000044" "g.1639017G>C" "" "" "" "WDR81(NM_001163809.1):c.5325+6G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1735723G>C" "" "benign" "" "0000325085" "0" "50" "17" "1628270" "1628270" "subst" "0.000135543" "01804" "WDR81_000005" "g.1628270G>C" "" "" "" "WDR81(NM_001163809.1):c.17G>C (p.(Gly6Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1724976G>C" "" "VUS" "" "0000325087" "0" "50" "17" "1628849" "1628849" "subst" "0" "01804" "WDR81_000006" "g.1628849C>T" "" "" "" "WDR81(NM_001163673.1):c.59-4825C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1725555C>T" "" "VUS" "" "0000325088" "0" "50" "17" "1629356" "1629356" "subst" "0" "01804" "WDR81_000007" "g.1629356G>A" "" "" "" "WDR81(NM_001163809.1):c.1103G>A (p.(Arg368Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1726062G>A" "" "VUS" "" "0000325089" "0" "50" "17" "1629659" "1629659" "subst" "6.70089E-6" "01804" "WDR81_000009" "g.1629659C>T" "" "" "" "WDR81(NM_001163809.1):c.1406C>T (p.(Ala469Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1726365C>T" "" "VUS" "" "0000325090" "0" "30" "17" "1630325" "1630325" "subst" "0" "01804" "WDR81_000011" "g.1630325C>G" "" "" "" "WDR81(NM_001163809.1):c.2072C>G (p.(Ser691Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1727031C>G" "" "likely benign" "" "0000325092" "0" "50" "17" "1630950" "1630950" "subst" "0.000363752" "01804" "WDR81_000018" "g.1630950C>T" "" "" "" "WDR81(NM_001163673.1):c.59-2724C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1727656C>T" "" "VUS" "" "0000325093" "0" "50" "17" "1631356" "1631356" "subst" "2.15169E-5" "01804" "WDR81_000021" "g.1631356G>C" "" "" "" "WDR81(NM_001163809.1):c.3103G>C (p.(Gly1035Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1728062G>C" "" "VUS" "" "0000325094" "0" "50" "17" "1634474" "1634474" "subst" "0" "01804" "WDR81_000028" "g.1634474C>T" "" "" "" "WDR81(NM_001163673.1):c.470C>T (p.(Thr157Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1731180C>T" "" "VUS" "" "0000325095" "0" "50" "17" "1635761" "1635761" "subst" "0.000101787" "01804" "WDR81_000030" "g.1635761C>G" "" "" "" "WDR81(NM_001163673.1):c.691C>G (p.(Gln231Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1732467C>G" "" "VUS" "" "0000325097" "0" "50" "17" "1638961" "1638961" "subst" "0" "01804" "WDR81_000043" "g.1638961A>G" "" "" "" "WDR81(NM_001163673.1):c.1666A>G (p.(Ser556Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1735667A>G" "" "VUS" "" "0000342091" "0" "90" "17" "1639342" "1639342" "subst" "8.5563E-6" "02327" "WDR81_000047" "g.1639342C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1736048C>T" "" "pathogenic" "" "0000343364" "0" "50" "17" "1630615" "1630615" "subst" "4.73985E-5" "02327" "WDR81_000048" "g.1630615C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1727321C>T" "" "VUS" "" "0000348242" "0" "50" "17" "1639000" "1639000" "subst" "8.19894E-5" "02327" "WDR81_000049" "g.1639000C>T" "" "" "" "WDR81(NM_001163809.2):c.5314C>T (p.(Pro1772Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1735706C>T" "" "VUS" "" "0000459802" "3" "90" "17" "1629098" "1629098" "subst" "0" "00006" "WDR81_000050" "g.1629098G>A" "" "{PMID:Alazami 2015:25558065}, {DOI:Alazami 2015:10.1016/j.celrep.2014.12.015}" "" "" "" "Germline" "yes" "" "0" "" "" "g.1725804G>A" "" "pathogenic (recessive)" "" "0000560368" "0" "30" "17" "1619920" "1619920" "subst" "0.00186345" "01943" "WDR81_000051" "g.1619920C>T" "" "" "" "WDR81(NM_001163673.1):c.51C>T (p.S17=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1716626C>T" "" "likely benign" "" "0000560375" "0" "50" "17" "1628404" "1628404" "subst" "8.97972E-6" "02325" "WDR81_000052" "g.1628404G>A" "" "" "" "WDR81(NM_001163809.2):c.151G>A (p.G51S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1725110G>A" "" "VUS" "" "0000560376" "0" "30" "17" "1628431" "1628431" "subst" "0" "01804" "WDR81_000053" "g.1628431G>A" "" "" "" "WDR81(NM_001163809.1):c.178G>A (p.(Ala60Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1725137G>A" "" "likely benign" "" "0000560377" "0" "30" "17" "1628432" "1628432" "subst" "0" "01804" "WDR81_000054" "g.1628432C>A" "" "" "" "WDR81(NM_001163809.1):c.179C>A (p.(Ala60Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1725138C>A" "" "likely benign" "" "0000560378" "0" "10" "17" "1628523" "1628523" "subst" "0.00090893" "01943" "WDR81_000055" "g.1628523C>T" "" "" "" "WDR81(NM_001163809.1):c.270C>T (p.L90=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1725229C>T" "" "benign" "" "0000560379" "0" "30" "17" "1628581" "1628581" "subst" "0" "01943" "WDR81_000056" "g.1628581C>T" "" "" "" "WDR81(NM_001163809.1):c.328C>T (p.L110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1725287C>T" "" "likely benign" "" "0000560380" "0" "50" "17" "1628699" "1628699" "subst" "0" "01804" "WDR81_000057" "g.1628699A>T" "" "" "" "WDR81(NM_001163809.1):c.446A>T (p.(Asn149Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1725405A>T" "" "VUS" "" "0000560381" "0" "50" "17" "1629070" "1629070" "subst" "2.64729E-5" "01943" "WDR81_000058" "g.1629070G>A" "" "" "" "WDR81(NM_001163809.1):c.817G>A (p.A273T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1725776G>A" "" "VUS" "" "0000560382" "0" "50" "17" "1629092" "1629092" "subst" "0.000165559" "01943" "WDR81_000059" "g.1629092C>T" "" "" "" "WDR81(NM_001163809.1):c.839C>T (p.A280V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1725798C>T" "" "VUS" "" "0000560384" "0" "50" "17" "1629636" "1629636" "subst" "2.02853E-5" "01943" "WDR81_000061" "g.1629636G>A" "" "" "" "WDR81(NM_001163809.1):c.1383G>A (p.S461=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1726342G>A" "" "VUS" "" "0000560385" "0" "50" "17" "1629905" "1629905" "subst" "6.7283E-6" "01943" "WDR81_000062" "g.1629905A>G" "" "" "" "WDR81(NM_001163809.1):c.1652A>G (p.Y551C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1726611A>G" "" "VUS" "" "0000560386" "0" "10" "17" "1629975" "1629975" "subst" "0.00303479" "01943" "WDR81_000063" "g.1629975C>T" "" "" "" "WDR81(NM_001163809.1):c.1722C>T (p.H574=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1726681C>T" "" "benign" "" "0000560387" "0" "30" "17" "1630070" "1630070" "subst" "0" "01804" "WDR81_000064" "g.1630070C>T" "" "" "" "WDR81(NM_001163809.1):c.1817C>T (p.(Pro606Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1726776C>T" "" "likely benign" "" "0000560389" "0" "10" "17" "1630130" "1630130" "subst" "0.000799231" "01943" "WDR81_000066" "g.1630130C>T" "" "" "" "WDR81(NM_001163809.1):c.1877C>T (p.P626L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1726836C>T" "" "benign" "" "0000560390" "0" "50" "17" "1630156" "1630156" "subst" "2.04287E-5" "02327" "WDR81_000067" "g.1630156C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1726862C>T" "" "VUS" "" "0000560393" "0" "30" "17" "1631365" "1631365" "subst" "0.000650149" "01943" "WDR81_000070" "g.1631365G>A" "" "" "" "WDR81(NM_001163809.1):c.3112G>A (p.G1038R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1728071G>A" "" "likely benign" "" "0000560394" "0" "50" "17" "1631464" "1631464" "subst" "3.69753E-5" "01943" "WDR81_000071" "g.1631464G>A" "" "" "" "WDR81(NM_001163809.1):c.3211G>A (p.V1071I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1728170G>A" "" "VUS" "" "0000560395" "0" "50" "17" "1631759" "1631761" "del" "0" "01943" "WDR81_000072" "g.1631759_1631761del" "" "" "" "WDR81(NM_001163809.1):c.3506_3508delAGG (p.E1169del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1728465_1728467del" "" "VUS" "" "0000560396" "0" "30" "17" "1631785" "1631785" "subst" "0.00108702" "01943" "WDR81_000073" "g.1631785G>A" "" "" "" "WDR81(NM_001163809.1):c.3532G>A (p.A1178T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1728491G>A" "" "likely benign" "" "0000560397" "0" "30" "17" "1634070" "1634070" "subst" "0" "01943" "WDR81_000074" "g.1634070C>T" "" "" "" "WDR81(NM_001163809.1):c.3797C>T (p.T1266I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1730776C>T" "" "likely benign" "" "0000560398" "0" "50" "17" "1635669" "1635669" "subst" "0.000800741" "01943" "WDR81_000075" "g.1635669G>A" "" "" "" "WDR81(NM_001163809.1):c.4208G>A (p.S1403N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1732375G>A" "" "VUS" "" "0000560399" "0" "30" "17" "1636876" "1636876" "subst" "0" "01943" "WDR81_000076" "g.1636876G>A" "" "" "" "WDR81(NM_001163809.1):c.4545G>A (p.A1515=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1733582G>A" "" "likely benign" "" "0000560400" "0" "30" "17" "1636946" "1636946" "subst" "0.000197496" "01943" "WDR81_000077" "g.1636946G>A" "" "" "" "WDR81(NM_001163809.1):c.4615G>A (p.G1539R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1733652G>A" "" "likely benign" "" "0000560401" "0" "90" "17" "1636999" "1637000" "del" "0" "01943" "WDR81_000078" "g.1636999_1637000del" "" "" "" "WDR81(NM_001163809.1):c.4668_4669delAG (p.G1557Dfs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1733705_1733706del" "" "pathogenic" "" "0000560402" "0" "30" "17" "1637046" "1637046" "subst" "6.16482E-5" "01943" "WDR81_000079" "g.1637046A>G" "" "" "" "WDR81(NM_001163809.1):c.4715A>G (p.N1572S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1733752A>G" "" "likely benign" "" "0000560403" "0" "30" "17" "1637093" "1637093" "subst" "0.000391995" "01943" "WDR81_000080" "g.1637093G>C" "" "" "" "WDR81(NM_001163809.1):c.4762G>C (p.V1588L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1733799G>C" "" "likely benign" "" "0000560404" "0" "30" "17" "1637126" "1637126" "subst" "9.83357E-5" "01804" "WDR81_000036" "g.1637126G>A" "" "" "" "WDR81(NM_001163673.1):c.1186G>A (p.(Asp396Asn)), WDR81(NM_001163809.1):c.4795G>A (p.D1599N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1733832G>A" "" "likely benign" "" "0000560405" "0" "30" "17" "1637159" "1637159" "subst" "1.63112E-5" "01943" "WDR81_000081" "g.1637159G>A" "" "" "" "WDR81(NM_001163809.1):c.4828G>A (p.V1610M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1733865G>A" "" "likely benign" "" "0000560407" "0" "50" "17" "1637308" "1637308" "subst" "8.58839E-5" "01943" "WDR81_000083" "g.1637308C>T" "" "" "" "WDR81(NM_001163809.1):c.4977C>T (p.S1659=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1734014C>T" "" "VUS" "" "0000560408" "0" "50" "17" "1637348" "1637348" "subst" "2.50419E-5" "01943" "WDR81_000084" "g.1637348C>T" "" "" "" "WDR81(NM_001163809.1):c.5017C>T (p.R1673C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1734054C>T" "" "VUS" "" "0000560409" "0" "50" "17" "1637480" "1637480" "subst" "5.20693E-5" "01943" "WDR81_000085" "g.1637480G>A" "" "" "" "WDR81(NM_001163809.1):c.5149G>A (p.G1717R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1734186G>A" "" "VUS" "" "0000560410" "0" "30" "17" "1637492" "1637492" "subst" "0.00258488" "01943" "WDR81_000086" "g.1637492G>A" "" "" "" "WDR81(NM_001163809.1):c.5161G>A (p.V1721I, p.(Val1721Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1734198G>A" "" "likely benign" "" "0000560411" "0" "30" "17" "1639350" "1639350" "subst" "0.0252212" "01804" "WDR81_000087" "g.1639350C>T" "" "" "" "WDR81(NM_001163673.1):c.1734C>T (p.(Gly578=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1736056C>T" "" "likely benign" "" "0000560412" "0" "30" "17" "1639403" "1639403" "subst" "3.35765E-5" "01804" "WDR81_000088" "g.1639403G>A" "" "" "" "WDR81(NM_001163673.1):c.1787G>A (p.(Arg596His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1736109G>A" "" "likely benign" "" "0000560413" "0" "30" "17" "1640898" "1640898" "subst" "4.89488E-5" "01943" "WDR81_000089" "g.1640898G>A" "" "" "" "WDR81(NM_001163809.1):c.5745G>A (p.T1915=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1737604G>A" "" "likely benign" "" "0000560414" "0" "30" "17" "1640958" "1640958" "subst" "1.23257E-5" "01943" "WDR81_000090" "g.1640958G>T" "" "" "" "WDR81(NM_001163809.1):c.5805G>T (p.G1935=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1737664G>T" "" "likely benign" "" "0000616360" "0" "30" "17" "1628531" "1628531" "subst" "0" "01804" "WDR81_000092" "g.1628531G>A" "" "" "" "WDR81(NM_001163809.1):c.278G>A (p.(Arg93His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1725237G>A" "" "likely benign" "" "0000616361" "0" "50" "17" "1629325" "1629325" "subst" "0.000290227" "01943" "WDR81_000093" "g.1629325A>G" "" "" "" "WDR81(NM_001163809.1):c.1072A>G (p.S358G), WDR81(NM_001163809.2):c.1072A>G (p.(Ser358Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1726031A>G" "" "VUS" "" "0000616362" "0" "30" "17" "1630102" "1630102" "subst" "0" "01943" "WDR81_000065" "g.1630102A>G" "" "" "" "WDR81(NM_001163809.1):c.1849A>G (p.T617A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1726808A>G" "" "likely benign" "" "0000616363" "0" "30" "17" "1630557" "1630557" "subst" "0.000411473" "01943" "WDR81_000095" "g.1630557C>T" "" "" "" "WDR81(NM_001163809.1):c.2304C>T (p.H768=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1727263C>T" "" "likely benign" "" "0000616364" "0" "50" "17" "1631188" "1631188" "subst" "3.30404E-5" "01943" "WDR81_000096" "g.1631188C>A" "" "" "" "WDR81(NM_001163809.1):c.2935C>A (p.R979S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1727894C>A" "" "VUS" "" "0000616365" "0" "50" "17" "1635680" "1635680" "subst" "0" "01943" "WDR81_000098" "g.1635680C>G" "" "" "" "WDR81(NM_001163809.1):c.4219C>G (p.L1407V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1732386C>G" "" "VUS" "" "0000616366" "0" "30" "17" "1636080" "1636080" "subst" "2.44798E-5" "01943" "WDR81_000100" "g.1636080C>T" "" "" "" "WDR81(NM_001163809.1):c.4444C>T (p.L1482=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1732786C>T" "" "likely benign" "" "0000616367" "0" "50" "17" "1637054" "1637054" "subst" "5.75961E-5" "01943" "WDR81_000101" "g.1637054C>T" "" "" "" "WDR81(NM_001163809.1):c.4723C>T (p.R1575W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1733760C>T" "" "VUS" "" "0000623617" "0" "50" "17" "1619929" "1619929" "subst" "0" "02325" "WDR81_000091" "g.1619929T>G" "" "" "" "WDR81(NM_152348.4):c.-124+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1716635T>G" "" "VUS" "" "0000623620" "0" "50" "17" "1629658" "1629658" "subst" "0" "01943" "WDR81_000094" "g.1629658G>A" "" "" "" "WDR81(NM_001163809.1):c.1405G>A (p.A469T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1726364G>A" "" "VUS" "" "0000623621" "0" "30" "17" "1634247" "1634247" "subst" "2.90809E-5" "01943" "WDR81_000097" "g.1634247G>A" "" "" "" "WDR81(NM_001163809.1):c.3966+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1730953G>A" "" "likely benign" "" "0000623622" "0" "50" "17" "1635686" "1635686" "subst" "0.000264193" "01943" "WDR81_000099" "g.1635686T>G" "" "" "" "WDR81(NM_001163809.1):c.4225T>G (p.C1409G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1732392T>G" "" "VUS" "" "0000649501" "1" "30" "17" "1639350" "1639350" "subst" "0.0252212" "03575" "WDR81_000087" "g.1639350C>T" "183/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "183 heterozygous; {DB:CLININrs117522064}" "Germline" "" "rs117522064" "0" "" "" "g.1736056C>T" "" "likely benign" "" "0000658042" "0" "30" "17" "1637437" "1637437" "subst" "0.000157839" "01943" "WDR81_000102" "g.1637437C>T" "" "" "" "WDR81(NM_001163809.1):c.5106C>T (p.F1702=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1734143C>T" "" "likely benign" "" "0000666216" "3" "70" "17" "1629103" "1629104" "del" "0" "00006" "WDR81_000003" "g.1629103_1629104del" "" "{PMID:Maddirevula 2019:30237576}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.1725809_1725810del" "" "likely pathogenic (recessive)" "ACMG" "0000669384" "3" "30" "17" "1639350" "1639350" "subst" "0.0252212" "03575" "WDR81_000087" "g.1639350C>T" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs117522064}" "Germline" "" "rs117522064" "0" "" "" "g.1736056C>T" "" "likely benign" "" "0000680789" "0" "30" "17" "1630911" "1630911" "subst" "5.95199E-5" "01943" "WDR81_000103" "g.1630911G>T" "" "" "" "WDR81(NM_001163809.1):c.2658G>T (p.L886=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680790" "0" "50" "17" "1631293" "1631293" "subst" "8.03331E-5" "01943" "WDR81_000104" "g.1631293G>T" "" "" "" "WDR81(NM_001163809.1):c.3040G>T (p.G1014C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680791" "0" "50" "17" "1637088" "1637088" "subst" "4.13401E-5" "01943" "WDR81_000105" "g.1637088C>T" "" "" "" "WDR81(NM_001163809.1):c.4757C>T (p.S1586L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000683589" "3" "70" "17" "1639342" "1639342" "subst" "8.5563E-6" "00006" "WDR81_000047" "g.1639342C>T" "" "{PMID:Anazi 2017:28940097}" "" "" "ACMG PVS1,PM2" "Germline" "" "" "0" "" "" "g.1736048C>T" "" "likely pathogenic (recessive)" "ACMG" "0000692264" "0" "50" "17" "1629968" "1629968" "subst" "0" "01943" "WDR81_000106" "g.1629968A>G" "" "" "" "WDR81(NM_001163809.1):c.1715A>G (p.H572R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726187" "0" "50" "17" "1629566" "1629566" "subst" "0" "01943" "WDR81_000107" "g.1629566C>A" "" "" "" "WDR81(NM_001163809.1):c.1313C>A (p.P438H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726188" "0" "30" "17" "1629603" "1629603" "subst" "7.46107E-5" "01943" "WDR81_000108" "g.1629603C>T" "" "" "" "WDR81(NM_001163809.1):c.1350C>T (p.Y450=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726189" "0" "30" "17" "1630619" "1630619" "subst" "0" "01943" "WDR81_000109" "g.1630619C>A" "" "" "" "WDR81(NM_001163809.1):c.2366C>A (p.T789K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726190" "0" "50" "17" "1637015" "1637015" "subst" "2.88123E-5" "01943" "WDR81_000110" "g.1637015G>A" "" "" "" "WDR81(NM_001163809.1):c.4684G>A (p.V1562I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000763147" "3" "70" "17" "1629098" "1629098" "subst" "0" "00006" "WDR81_000050" "g.1629098G>A" "" "{PMID:Anazi 2017:27431290}" "" "" "ACMG PM1. PM2, PP1, PP3" "Germline" "" "" "0" "" "" "g.1725804G>A" "" "likely pathogenic" "ACMG" "0000807820" "0" "30" "17" "1628766" "1628766" "subst" "0" "01943" "WDR81_000111" "g.1628766C>A" "" "" "" "WDR81(NM_001163809.1):c.513C>A (p.V171=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807821" "0" "50" "17" "1630823" "1630823" "subst" "0.000460061" "01943" "WDR81_000112" "g.1630823C>G" "" "" "" "WDR81(NM_001163809.1):c.2570C>G (p.P857R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807822" "0" "30" "17" "1636037" "1636037" "subst" "0.000126519" "01943" "WDR81_000113" "g.1636037C>T" "" "" "" "WDR81(NM_001163809.1):c.4401C>T (p.P1467=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854762" "0" "30" "17" "1628711" "1628711" "subst" "6.65168E-6" "01943" "WDR81_000114" "g.1628711A>G" "" "" "" "WDR81(NM_001163809.1):c.458A>G (p.H153R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854763" "0" "30" "17" "1629546" "1629546" "subst" "5.51086E-5" "01943" "WDR81_000117" "g.1629546C>T" "" "" "" "WDR81(NM_001163809.1):c.1293C>T (p.G431=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854764" "0" "50" "17" "1637277" "1637277" "subst" "8.15607E-6" "01943" "WDR81_000082" "g.1637277G>C" "" "" "" "WDR81(NM_001163809.1):c.4946G>C (p.G1649A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854765" "0" "30" "17" "1639389" "1639389" "subst" "0" "01943" "WDR81_000123" "g.1639389C>T" "" "" "" "WDR81(NM_001163809.1):c.5382C>T (p.I1794=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865081" "0" "50" "17" "1629316" "1629316" "subst" "0" "01943" "WDR81_000115" "g.1629316G>A" "" "" "" "WDR81(NM_001163809.1):c.1063G>A (p.G355S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865082" "0" "50" "17" "1629409" "1629409" "subst" "0" "01804" "WDR81_000116" "g.1629409G>T" "" "" "" "WDR81(NM_001163809.1):c.1156G>T (p.(Val386Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865083" "0" "30" "17" "1630053" "1630053" "subst" "2.06234E-5" "01943" "WDR81_000118" "g.1630053C>T" "" "" "" "WDR81(NM_001163809.1):c.1800C>T (p.P600=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865084" "0" "30" "17" "1631076" "1631076" "subst" "3.30268E-5" "01943" "WDR81_000119" "g.1631076G>A" "" "" "" "WDR81(NM_001163809.1):c.2823G>A (p.T941=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865085" "0" "30" "17" "1631537" "1631537" "subst" "1.22827E-5" "01943" "WDR81_000120" "g.1631537C>T" "" "" "" "WDR81(NM_001163809.1):c.3284C>T (p.P1095L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865086" "0" "50" "17" "1631730" "1631732" "del" "0" "01943" "WDR81_000121" "g.1631730_1631732del" "" "" "" "WDR81(NM_001163809.1):c.3477_3479delGGA (p.E1159del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865087" "0" "30" "17" "1636875" "1636875" "subst" "3.76166E-5" "01943" "WDR81_000122" "g.1636875C>T" "" "" "" "WDR81(NM_001163809.1):c.4544C>T (p.A1515V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865088" "0" "30" "17" "1637174" "1637174" "subst" "0.00387929" "02326" "WDR81_000002" "g.1637174G>A" "" "" "" "WDR81(NM_001163809.1):c.4843G>A (p.G1615R), WDR81(NM_001163809.2):c.4843G>A (p.G1615R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000904849" "3" "70" "17" "1628576" "1628576" "subst" "0" "00006" "WDR81_000124" "g.1628576A>C" "" "{PMID:Al-Kasbi 2022:36344539}" "" "" "" "Germline" "" "" "0" "" "" "g.1725282A>C" "" "VUS" "" "0000982327" "0" "50" "17" "1629325" "1629325" "subst" "0.000290227" "01804" "WDR81_000093" "g.1629325A>G" "" "" "" "WDR81(NM_001163809.1):c.1072A>G (p.S358G), WDR81(NM_001163809.2):c.1072A>G (p.(Ser358Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982328" "0" "50" "17" "1629500" "1629500" "subst" "0.000210252" "01804" "WDR81_000125" "g.1629500C>T" "" "" "" "WDR81(NM_001163809.2):c.1247C>T (p.(Thr416Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982329" "0" "50" "17" "1630568" "1630568" "subst" "0" "01804" "WDR81_000126" "g.1630568A>G" "" "" "" "WDR81(NM_001163809.2):c.2315A>G (p.(Gln772Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982330" "0" "30" "17" "1638857" "1638857" "subst" "0" "01804" "WDR81_000127" "g.1638857C>G" "" "" "" "WDR81(NM_001163809.2):c.5180-9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002964" "0" "30" "17" "1628882" "1628882" "subst" "2.03738E-5" "01804" "WDR81_000128" "g.1628882G>A" "" "" "" "WDR81(NM_001163809.1):c.629G>A (p.(Arg210Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002965" "0" "90" "17" "1629611" "1629611" "dup" "0" "01804" "WDR81_000129" "g.1629611dup" "" "" "" "WDR81(NM_001163809.1):c.1358dupA (p.(Tyr453fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001002966" "0" "30" "17" "1630609" "1630609" "subst" "6.08453E-5" "01804" "WDR81_000130" "g.1630609A>T" "" "" "" "WDR81(NM_001163809.1):c.2356A>T (p.(Arg786Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002967" "0" "50" "17" "1631344" "1631344" "del" "0" "01804" "WDR81_000131" "g.1631344del" "" "" "" "WDR81(NM_001163809.1):c.3091delG (p.(Glu1031fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002968" "0" "50" "17" "1631346" "1631347" "del" "5.72272E-6" "01804" "WDR81_000132" "g.1631346_1631347del" "" "" "" "WDR81(NM_001163809.1):c.3093_3094delGG (p.(Glu1032fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002969" "0" "30" "17" "1634183" "1634183" "subst" "7.01528E-5" "01804" "WDR81_000133" "g.1634183C>T" "" "" "" "WDR81(NM_001163809.1):c.3910C>T (p.(Arg1304Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002970" "0" "50" "17" "1636907" "1636907" "subst" "1.78015E-5" "01804" "WDR81_000134" "g.1636907C>T" "" "" "" "WDR81(NM_001163809.1):c.4576C>T (p.(Arg1526Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002971" "0" "30" "17" "1637492" "1637492" "subst" "0.00258488" "01804" "WDR81_000086" "g.1637492G>A" "" "" "" "WDR81(NM_001163809.1):c.5161G>A (p.V1721I, p.(Val1721Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041638" "0" "70" "17" "1628310" "1628310" "subst" "0" "01804" "WDR81_000135" "g.1628310G>A" "" "" "" "WDR81(NM_001163809.2):c.57G>A (p.(Trp19*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001041639" "0" "50" "17" "1629635" "1629635" "subst" "1.35466E-5" "01804" "WDR81_000136" "g.1629635C>T" "" "" "" "WDR81(NM_001163809.2):c.1382C>T (p.(Ser461Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041640" "0" "50" "17" "1639472" "1639472" "subst" "0" "01804" "WDR81_000137" "g.1639472G>A" "" "" "" "WDR81(NM_001163809.2):c.5465G>A (p.(Arg1822Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041641" "0" "30" "17" "1639517" "1639517" "subst" "0.000100996" "01804" "WDR81_000138" "g.1639517C>T" "" "" "" "WDR81(NM_001163809.2):c.5505+5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041642" "0" "50" "17" "1640834" "1640834" "subst" "2.44391E-5" "01804" "WDR81_000139" "g.1640834G>A" "" "" "" "WDR81(NM_001163809.2):c.5681G>A (p.(Cys1894Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055769" "0" "50" "17" "1629073" "1629073" "subst" "1.32293E-5" "01804" "WDR81_000140" "g.1629073T>A" "" "" "" "WDR81(NM_001163809.2):c.820T>A (p.(Cys274Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055770" "0" "50" "17" "1630111" "1630111" "subst" "0" "01804" "WDR81_000141" "g.1630111G>A" "" "" "" "WDR81(NM_001163809.2):c.1858G>A (p.(Glu620Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055771" "0" "50" "17" "1630593" "1630593" "subst" "0" "01804" "WDR81_000142" "g.1630593G>C" "" "" "" "WDR81(NM_001163809.2):c.2340G>C (p.(Glu780Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055772" "0" "50" "17" "1639000" "1639000" "subst" "8.19894E-5" "01804" "WDR81_000049" "g.1639000C>T" "" "" "" "WDR81(NM_001163809.2):c.5314C>T (p.(Pro1772Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001060848" "0" "90" "17" "1633781" "1633781" "subst" "0" "00006" "WDR81_000143" "g.1633781G>T" "" "{PMID:Horbacz 2025:41210864}" "" "" "ACMG PVS1, PM2; not in 142 controls" "Germline/De novo (untested)" "" "" "0" "" "" "g.1730487G>T" "" "pathogenic" "ACMG" "0001066593" "0" "50" "17" "1630886" "1630886" "subst" "5.31004E-5" "02325" "WDR81_000017" "g.1630886C>T" "" "" "" "WDR81(NM_001163809.1):c.2633C>T (p.P878L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066594" "0" "50" "17" "1631721" "1631721" "subst" "8.27328E-6" "02325" "WDR81_000144" "g.1631721G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066595" "0" "50" "17" "1633757" "1633757" "subst" "4.09729E-5" "02325" "WDR81_000145" "g.1633757C>T" "" "" "" "" "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 WDR81 ## Count = 154 "{{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}}" "0000116952" "00024143" "50" "1273" "0" "1273" "0" "c.1273G>A" "r.(?)" "p.(Val425Ile)" "1" "0000116953" "00024143" "50" "4843" "0" "4843" "0" "c.4843G>A" "r.(?)" "p.(Gly1615Arg)" "7" "0000129979" "00024143" "70" "3997" "0" "3997" "0" "c.3997C>T" "r.(?)" "p.(Arg1333*)" "" "0000130070" "00024143" "70" "850" "0" "851" "0" "c.850_851del" "r.(?)" "p.(Leu284Valfs*9)" "" "0000247971" "00024143" "10" "4971" "0" "4971" "0" "c.4971A>G" "r.(?)" "p.(Leu1657=)" "" "0000248686" "00024143" "10" "2331" "0" "2331" "0" "c.2331A>G" "r.(?)" "p.(Leu777=)" "" "0000248687" "00024143" "10" "4743" "0" "4743" "0" "c.4743A>G" "r.(?)" "p.(Pro1581=)" "" "0000248688" "00024143" "10" "5451" "0" "5451" "0" "c.5451A>G" "r.(?)" "p.(Thr1817=)" "" "0000248843" "00024143" "10" "4603" "0" "4603" "0" "c.4603A>G" "r.(?)" "p.(Met1535Val)" "" "0000253232" "00024143" "10" "4971" "0" "4971" "0" "c.4971A>G" "r.(?)" "p.(Leu1657=)" "" "0000313075" "00024143" "10" "1955" "0" "1955" "0" "c.1955C>T" "r.(?)" "p.(Pro652Leu)" "" "0000313076" "00024143" "10" "2142" "0" "2142" "0" "c.2142T>C" "r.(?)" "p.(Gly714=)" "" "0000313077" "00024143" "10" "4158" "-5" "4158" "-5" "c.4158-5T>C" "r.spl?" "p.?" "" "0000313078" "00024143" "10" "5127" "0" "5127" "0" "c.5127G>A" "r.(?)" "p.(Pro1709=)" "" "0000313079" "00024143" "50" "5374" "0" "5374" "0" "c.5374C>G" "r.(?)" "p.(Leu1792Val)" "" "0000315400" "00024143" "30" "3509" "0" "3509" "0" "c.3509G>A" "r.(?)" "p.(Gly1170Glu)" "" "0000319904" "00024143" "50" "1214" "0" "1214" "0" "c.1214G>C" "r.(?)" "p.(Arg405Pro)" "" "0000319905" "00024143" "30" "2136" "0" "2136" "0" "c.2136G>A" "r.(?)" "p.(Gly712=)" "" "0000319906" "00024143" "30" "2254" "0" "2254" "0" "c.2254C>T" "r.(?)" "p.(Pro752Ser)" "" "0000319907" "00024143" "50" "2633" "0" "2633" "0" "c.2633C>T" "r.(?)" "p.(Pro878Leu)" "" "0000319908" "00024143" "30" "2871" "0" "2871" "0" "c.2871T>C" "r.(?)" "p.(Asn957=)" "" "0000319909" "00024143" "30" "3051" "0" "3051" "0" "c.3051C>T" "r.(?)" "p.(Ala1017=)" "" "0000319910" "00024143" "50" "3447" "0" "3447" "0" "c.3447C>A" "r.(?)" "p.(Ser1149Arg)" "" "0000319911" "00024143" "30" "3528" "0" "3528" "0" "c.3528C>T" "r.(?)" "p.(Thr1176=)" "" "0000319912" "00024143" "30" "3870" "0" "3870" "0" "c.3870C>T" "r.(?)" "p.(Ile1290=)" "" "0000319913" "00024143" "30" "3878" "0" "3878" "0" "c.3878G>A" "r.(?)" "p.(Gly1293Glu)" "" "0000319914" "00024143" "30" "4029" "0" "4029" "0" "c.4029G>A" "r.(?)" "p.(Leu1343=)" "" "0000319915" "00024143" "30" "4324" "-8" "4324" "-8" "c.4324-8G>A" "r.(=)" "p.(=)" "" "0000319916" "00024143" "30" "4606" "0" "4606" "0" "c.4606C>G" "r.(?)" "p.(Pro1536Ala)" "" "0000319917" "00024143" "30" "4608" "0" "4608" "0" "c.4608C>T" "r.(?)" "p.(Pro1536=)" "" "0000319918" "00024143" "50" "4795" "0" "4795" "0" "c.4795G>A" "r.(?)" "p.(Asp1599Asn)" "" "0000319919" "00024143" "10" "4843" "0" "4843" "0" "c.4843G>A" "r.(?)" "p.(Gly1615Arg)" "" "0000319920" "00024143" "30" "4869" "0" "4869" "0" "c.4869C>T" "r.(?)" "p.(Tyr1623=)" "" "0000319921" "00024143" "50" "5044" "0" "5044" "0" "c.5044G>A" "r.(?)" "p.(Asp1682Asn)" "" "0000319922" "00024143" "10" "5127" "0" "5127" "0" "c.5127G>A" "r.(?)" "p.(Pro1709=)" "" "0000319923" "00024143" "50" "5231" "0" "5231" "0" "c.5231C>T" "r.(?)" "p.(Ala1744Val)" "" "0000319924" "00024143" "10" "5325" "6" "5325" "6" "c.5325+6G>C" "r.(=)" "p.(=)" "" "0000325085" "00024143" "50" "17" "0" "17" "0" "c.17G>C" "r.(?)" "p.(Gly6Ala)" "" "0000325087" "00024143" "50" "596" "0" "596" "0" "c.596C>T" "r.(?)" "p.(Pro199Leu)" "" "0000325088" "00024143" "50" "1103" "0" "1103" "0" "c.1103G>A" "r.(?)" "p.(Arg368Gln)" "" "0000325089" "00024143" "50" "1406" "0" "1406" "0" "c.1406C>T" "r.(?)" "p.(Ala469Val)" "" "0000325090" "00024143" "30" "2072" "0" "2072" "0" "c.2072C>G" "r.(?)" "p.(Ser691Cys)" "" "0000325092" "00024143" "50" "2697" "0" "2697" "0" "c.2697C>T" "r.(?)" "p.(Arg899=)" "" "0000325093" "00024143" "50" "3103" "0" "3103" "0" "c.3103G>C" "r.(?)" "p.(Gly1035Arg)" "" "0000325094" "00024143" "50" "4079" "0" "4079" "0" "c.4079C>T" "r.(?)" "p.(Thr1360Ile)" "" "0000325095" "00024143" "50" "4300" "0" "4300" "0" "c.4300C>G" "r.(?)" "p.(Gln1434Glu)" "" "0000325097" "00024143" "50" "5275" "0" "5275" "0" "c.5275A>G" "r.(?)" "p.(Ser1759Gly)" "" "0000342091" "00024143" "90" "5335" "0" "5335" "0" "c.5335C>T" "r.(?)" "p.(Arg1779Ter)" "" "0000343364" "00024143" "50" "2362" "0" "2362" "0" "c.2362C>T" "r.(?)" "p.(Arg788Trp)" "" "0000348242" "00024143" "50" "5314" "0" "5314" "0" "c.5314C>T" "r.(?)" "p.(Pro1772Ser)" "" "0000459802" "00024143" "90" "845" "0" "845" "0" "c.845G>A" "r.(?)" "p.(Gly282Glu)" "" "0000560368" "00024143" "30" "-8334" "0" "-8334" "0" "c.-8334C>T" "r.(?)" "p.(=)" "" "0000560375" "00024143" "50" "151" "0" "151" "0" "c.151G>A" "r.(?)" "p.(Gly51Ser)" "" "0000560376" "00024143" "30" "178" "0" "178" "0" "c.178G>A" "r.(?)" "p.(Ala60Thr)" "" "0000560377" "00024143" "30" "179" "0" "179" "0" "c.179C>A" "r.(?)" "p.(Ala60Glu)" "" "0000560378" "00024143" "10" "270" "0" "270" "0" "c.270C>T" "r.(?)" "p.(Leu90=)" "" "0000560379" "00024143" "30" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Leu110=)" "" "0000560380" "00024143" "50" "446" "0" "446" "0" "c.446A>T" "r.(?)" "p.(Asn149Ile)" "" "0000560381" "00024143" "50" "817" "0" "817" "0" "c.817G>A" "r.(?)" "p.(Ala273Thr)" "" "0000560382" "00024143" "50" "839" "0" "839" "0" "c.839C>T" "r.(?)" "p.(Ala280Val)" "" "0000560384" "00024143" "50" "1383" "0" "1383" "0" "c.1383G>A" "r.(?)" "p.(Ser461=)" "" "0000560385" "00024143" "50" "1652" "0" "1652" "0" "c.1652A>G" "r.(?)" "p.(Tyr551Cys)" "" "0000560386" "00024143" "10" "1722" "0" "1722" "0" "c.1722C>T" "r.(?)" "p.(His574=)" "" "0000560387" "00024143" "30" "1817" "0" "1817" "0" "c.1817C>T" "r.(?)" "p.(Pro606Leu)" "" "0000560389" "00024143" "10" "1877" "0" "1877" "0" "c.1877C>T" "r.(?)" "p.(Pro626Leu)" "" "0000560390" "00024143" "50" "1903" "0" "1903" "0" "c.1903C>T" "r.(?)" "p.(Arg635Trp)" "" "0000560393" "00024143" "30" "3112" "0" "3112" "0" "c.3112G>A" "r.(?)" "p.(Gly1038Arg)" "" "0000560394" "00024143" "50" "3211" "0" "3211" "0" "c.3211G>A" "r.(?)" "p.(Val1071Ile)" "" "0000560395" "00024143" "50" "3506" "0" "3508" "0" "c.3506_3508del" "r.(?)" "p.(Glu1169del)" "" "0000560396" "00024143" "30" "3532" "0" "3532" "0" "c.3532G>A" "r.(?)" "p.(Ala1178Thr)" "" "0000560397" "00024143" "30" "3797" "0" "3797" "0" "c.3797C>T" "r.(?)" "p.(Thr1266Ile)" "" "0000560398" "00024143" "50" "4208" "0" "4208" "0" "c.4208G>A" "r.(?)" "p.(Ser1403Asn)" "" "0000560399" "00024143" "30" "4545" "0" "4545" "0" "c.4545G>A" "r.(?)" "p.(Ala1515=)" "" "0000560400" "00024143" "30" "4615" "0" "4615" "0" "c.4615G>A" "r.(?)" "p.(Gly1539Arg)" "" "0000560401" "00024143" "90" "4668" "0" "4669" "0" "c.4668_4669del" "r.(?)" "p.(Gly1557AspfsTer16)" "" "0000560402" "00024143" "30" "4715" "0" "4715" "0" "c.4715A>G" "r.(?)" "p.(Asn1572Ser)" "" "0000560403" "00024143" "30" "4762" "0" "4762" "0" "c.4762G>C" "r.(?)" "p.(Val1588Leu)" "" "0000560404" "00024143" "30" "4795" "0" "4795" "0" "c.4795G>A" "r.(?)" "p.(Asp1599Asn)" "" "0000560405" "00024143" "30" "4828" "0" "4828" "0" "c.4828G>A" "r.(?)" "p.(Val1610Met)" "" "0000560407" "00024143" "50" "4977" "0" "4977" "0" "c.4977C>T" "r.(?)" "p.(Ser1659=)" "" "0000560408" "00024143" "50" "5017" "0" "5017" "0" "c.5017C>T" "r.(?)" "p.(Arg1673Cys)" "" "0000560409" "00024143" "50" "5149" "0" "5149" "0" "c.5149G>A" "r.(?)" "p.(Gly1717Arg)" "" "0000560410" "00024143" "30" "5161" "0" "5161" "0" "c.5161G>A" "r.(?)" "p.(Val1721Ile)" "" "0000560411" "00024143" "30" "5343" "0" "5343" "0" "c.5343C>T" "r.(?)" "p.(Gly1781=)" "" "0000560412" "00024143" "30" "5396" "0" "5396" "0" "c.5396G>A" "r.(?)" "p.(Arg1799His)" "" "0000560413" "00024143" "30" "5745" "0" "5745" "0" "c.5745G>A" "r.(?)" "p.(Thr1915=)" "" "0000560414" "00024143" "30" "5805" "0" "5805" "0" "c.5805G>T" "r.(?)" "p.(Gly1935=)" "" "0000616360" "00024143" "30" "278" "0" "278" "0" "c.278G>A" "r.(?)" "p.(Arg93His)" "" "0000616361" "00024143" "50" "1072" "0" "1072" "0" "c.1072A>G" "r.(?)" "p.(Ser358Gly)" "" "0000616362" "00024143" "30" "1849" "0" "1849" "0" "c.1849A>G" "r.(?)" "p.(Thr617Ala)" "" "0000616363" "00024143" "30" "2304" "0" "2304" "0" "c.2304C>T" "r.(?)" "p.(His768=)" "" "0000616364" "00024143" "50" "2935" "0" "2935" "0" "c.2935C>A" "r.(?)" "p.(Arg979Ser)" "" "0000616365" "00024143" "50" "4219" "0" "4219" "0" "c.4219C>G" "r.(?)" "p.(Leu1407Val)" "" "0000616366" "00024143" "30" "4444" "0" "4444" "0" "c.4444C>T" "r.(?)" "p.(Leu1482=)" "" "0000616367" "00024143" "50" "4723" "0" "4723" "0" "c.4723C>T" "r.(?)" "p.(Arg1575Trp)" "" "0000623617" "00024143" "50" "-8325" "0" "-8325" "0" "c.-8325T>G" "r.(?)" "p.(=)" "" "0000623620" "00024143" "50" "1405" "0" "1405" "0" "c.1405G>A" "r.(?)" "p.(Ala469Thr)" "" "0000623621" "00024143" "30" "3966" "8" "3966" "8" "c.3966+8G>A" "r.(=)" "p.(=)" "" "0000623622" "00024143" "50" "4225" "0" "4225" "0" "c.4225T>G" "r.(?)" "p.(Cys1409Gly)" "" "0000649501" "00024143" "30" "5343" "0" "5343" "0" "c.5343C>T" "r.(=)" "p.(=)" "" "0000658042" "00024143" "30" "5106" "0" "5106" "0" "c.5106C>T" "r.(?)" "p.(Phe1702=)" "" "0000666216" "00024143" "70" "850" "0" "851" "0" "c.850_851del" "r.(?)" "p.(Leu284Valfs*9)" "" "0000669384" "00024143" "30" "5343" "0" "5343" "0" "c.5343C>T" "r.(=)" "p.(=)" "" "0000680789" "00024143" "30" "2658" "0" "2658" "0" "c.2658G>T" "r.(?)" "p.(Leu886=)" "" "0000680790" "00024143" "50" "3040" "0" "3040" "0" "c.3040G>T" "r.(?)" "p.(Gly1014Cys)" "" "0000680791" "00024143" "50" "4757" "0" "4757" "0" "c.4757C>T" "r.(?)" "p.(Ser1586Leu)" "" "0000683589" "00024143" "70" "5335" "0" "5335" "0" "c.5335C>T" "r.(?)" "p.(Arg1779*)" "" "0000692264" "00024143" "50" "1715" "0" "1715" "0" "c.1715A>G" "r.(?)" "p.(His572Arg)" "" "0000726187" "00024143" "50" "1313" "0" "1313" "0" "c.1313C>A" "r.(?)" "p.(Pro438His)" "" "0000726188" "00024143" "30" "1350" "0" "1350" "0" "c.1350C>T" "r.(?)" "p.(Tyr450=)" "" "0000726189" "00024143" "30" "2366" "0" "2366" "0" "c.2366C>A" "r.(?)" "p.(Thr789Lys)" "" "0000726190" "00024143" "50" "4684" "0" "4684" "0" "c.4684G>A" "r.(?)" "p.(Val1562Ile)" "" "0000763147" "00024143" "70" "845" "0" "845" "0" "c.845G>A" "r.(?)" "p.(Gly282Glu)" "" "0000807820" "00024143" "30" "513" "0" "513" "0" "c.513C>A" "r.(?)" "p.(Val171=)" "" "0000807821" "00024143" "50" "2570" "0" "2570" "0" "c.2570C>G" "r.(?)" "p.(Pro857Arg)" "" "0000807822" "00024143" "30" "4401" "0" "4401" "0" "c.4401C>T" "r.(?)" "p.(Pro1467=)" "" "0000854762" "00024143" "30" "458" "0" "458" "0" "c.458A>G" "r.(?)" "p.(His153Arg)" "" "0000854763" "00024143" "30" "1293" "0" "1293" "0" "c.1293C>T" "r.(?)" "p.(Gly431=)" "" "0000854764" "00024143" "50" "4946" "0" "4946" "0" "c.4946G>C" "r.(?)" "p.(Gly1649Ala)" "" "0000854765" "00024143" "30" "5382" "0" "5382" "0" "c.5382C>T" "r.(?)" "p.(Ile1794=)" "" "0000865081" "00024143" "50" "1063" "0" "1063" "0" "c.1063G>A" "r.(?)" "p.(Gly355Ser)" "" "0000865082" "00024143" "50" "1156" "0" "1156" "0" "c.1156G>T" "r.(?)" "p.(Val386Leu)" "" "0000865083" "00024143" "30" "1800" "0" "1800" "0" "c.1800C>T" "r.(?)" "p.(Pro600=)" "" "0000865084" "00024143" "30" "2823" "0" "2823" "0" "c.2823G>A" "r.(?)" "p.(Thr941=)" "" "0000865085" "00024143" "30" "3284" "0" "3284" "0" "c.3284C>T" "r.(?)" "p.(Pro1095Leu)" "" "0000865086" "00024143" "50" "3477" "0" "3479" "0" "c.3477_3479del" "r.(?)" "p.(Glu1159del)" "" "0000865087" "00024143" "30" "4544" "0" "4544" "0" "c.4544C>T" "r.(?)" "p.(Ala1515Val)" "" "0000865088" "00024143" "30" "4843" "0" "4843" "0" "c.4843G>A" "r.(?)" "p.(Gly1615Arg)" "" "0000904849" "00024143" "70" "323" "0" "323" "0" "c.323A>C" "r.(?)" "p.(His108Pro)" "" "0000982327" "00024143" "50" "1072" "0" "1072" "0" "c.1072A>G" "r.(?)" "p.(Ser358Gly)" "" "0000982328" "00024143" "50" "1247" "0" "1247" "0" "c.1247C>T" "r.(?)" "p.(Thr416Met)" "" "0000982329" "00024143" "50" "2315" "0" "2315" "0" "c.2315A>G" "r.(?)" "p.(Gln772Arg)" "" "0000982330" "00024143" "30" "5180" "-9" "5180" "-9" "c.5180-9C>G" "r.(=)" "p.(=)" "" "0001002964" "00024143" "30" "629" "0" "629" "0" "c.629G>A" "r.(?)" "p.(Arg210Gln)" "" "0001002965" "00024143" "90" "1358" "0" "1358" "0" "c.1358dup" "r.(?)" "p.(Tyr453*)" "" "0001002966" "00024143" "30" "2356" "0" "2356" "0" "c.2356A>T" "r.(?)" "p.(Arg786Trp)" "" "0001002967" "00024143" "50" "3091" "0" "3091" "0" "c.3091del" "r.(?)" "p.(Glu1031Argfs*61)" "" "0001002968" "00024143" "50" "3093" "0" "3094" "0" "c.3093_3094del" "r.(?)" "p.(Glu1032Glyfs*46)" "" "0001002969" "00024143" "30" "3910" "0" "3910" "0" "c.3910C>T" "r.(?)" "p.(Arg1304Cys)" "" "0001002970" "00024143" "50" "4576" "0" "4576" "0" "c.4576C>T" "r.(?)" "p.(Arg1526Cys)" "" "0001002971" "00024143" "30" "5161" "0" "5161" "0" "c.5161G>A" "r.(?)" "p.(Val1721Ile)" "" "0001041638" "00024143" "70" "57" "0" "57" "0" "c.57G>A" "r.(?)" "p.(Trp19*)" "" "0001041639" "00024143" "50" "1382" "0" "1382" "0" "c.1382C>T" "r.(?)" "p.(Ser461Leu)" "" "0001041640" "00024143" "50" "5465" "0" "5465" "0" "c.5465G>A" "r.(?)" "p.(Arg1822Gln)" "" "0001041641" "00024143" "30" "5505" "5" "5505" "5" "c.5505+5C>T" "r.spl?" "p.?" "" "0001041642" "00024143" "50" "5681" "0" "5681" "0" "c.5681G>A" "r.(?)" "p.(Cys1894Tyr)" "" "0001055769" "00024143" "50" "820" "0" "820" "0" "c.820T>A" "r.(?)" "p.(Cys274Ser)" "" "0001055770" "00024143" "50" "1858" "0" "1858" "0" "c.1858G>A" "r.(?)" "p.(Glu620Lys)" "" "0001055771" "00024143" "50" "2340" "0" "2340" "0" "c.2340G>C" "r.(?)" "p.(Glu780Asp)" "" "0001055772" "00024143" "50" "5314" "0" "5314" "0" "c.5314C>T" "r.(?)" "p.(Pro1772Ser)" "" "0001060848" "00024143" "90" "3775" "0" "3775" "0" "c.3775G>T" "r.(?)" "p.(Gly1259Ter)" "" "0001066593" "00024143" "50" "2633" "0" "2633" "0" "c.2633C>T" "r.(?)" "p.(Pro878Leu)" "" "0001066594" "00024143" "50" "3468" "0" "3468" "0" "c.3468G>T" "r.(?)" "p.(Glu1156Asp)" "" "0001066595" "00024143" "50" "3751" "0" "3751" "0" "c.3751C>T" "r.(?)" "p.(Arg1251Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000073318" "0000116952" "0000073318" "0000116953" "0000080905" "0000129979" "0000080984" "0000130070" "0000226741" "0000459802" "0000292812" "0000649501" "0000302859" "0000666216" "0000305696" "0000669384" "0000309126" "0000683589" "0000362773" "0000763147" "0000427489" "0000904849" "0000472307" "0001060848"