### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = WDR35) # 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}}" "WDR35" "WD repeat domain 35" "2" "p24.3" "unknown" "NG_021212.1" "UD_132118975864" "" "https://www.LOVD.nl/WDR35" "Sensenbrenner syndrome website " "1" "29250" "57539" "613602" "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/WDR35_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-04-25 19:15:13" "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}}" "00024301" "WDR35" "transcript variant 1" "002" "NM_001006657.1" "" "NP_001006658.1" "" "" "" "-108" "6841" "3546" "20189884" "20110024" "00006" "2017-07-27 15:54:54" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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" "00372" "CED" "dysplasia, cranioectodermal (CED, Sensenbrenner syndrome)" "" "" "" "" "" "00006" "2014-05-02 09:56:43" "00006" "2015-12-07 07:11:25" "00871" "CED2" "dysplasia, cranioectodermal, type 2 (CED-2)" "AR" "613610" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00872" "SRTD7;SRPS5" "dysplasia, thoracic, short-rib, type 7 with/without polydactyly (SRTD-7, short rib polydactyly syndrome 5 (SRPS-5))" "AR" "614091" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "05635" "SRTD" "dysplasia, short-rib thoracic, with/without polydactyly (SRTD) (Jeune syndrome)" "" "" "" "" "" "00006" "2019-07-28 13:54:33" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{geneid}}" "{{diseaseid}}" "WDR35" "00139" "WDR35" "00372" "WDR35" "00871" "WDR35" "00872" "WDR35" "05635" ## Individuals ## Do not remove or alter this header ## ## Count = 23 "{{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}}" "00108617" "" "" "" "1" "" "02185" "" "" "M" "no" "Poland" "" "0" "" "" "Polish" "JWS_CED_2017_1" "00292530" "" "" "" "268" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292531" "" "" "" "10" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292532" "" "" "" "17" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292533" "" "" "" "179" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292534" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00300262" "" "" "" "1" "" "00006" "{PMID:Duran 2017:28400947}" "fetus" "" "" "United States" "" "0" "" "" "European" "R03-342" "00300263" "" "" "" "1" "" "00006" "{PMID:Duran 2017:28400947}" "" "" "" "United States" "" "0" "" "" "" "R10-483" "00304771" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304772" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00320364" "" "" "" "1" "" "02185" "" "" "M" "" "Poland" "" "0" "" "" "" "" "00320365" "" "" "" "1" "" "02185" "" "" "M" "no" "Poland" "00y04m" "0" "" "" "" "" "00320367" "" "" "" "1" "" "02185" "" "" "F" "no" "Poland" "" "0" "" "" "" "" "00320368" "" "" "" "1" "" "02185" "" "" "F" "" "Poland" "" "0" "" "" "" "" "00331593" "" "" "" "2" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 2 affected (2F)" "F" "yes" "" "" "0" "" "" "Arab" "13DG0792 , 13DG0793" "00387594" "" "" "" "1" "" "00000" "{PMID:Yamamura 2019:26968886}" "Her father had A208P, and her mother had L712YfsTer20. novel p.A208P" "F" "no" "Japan" "" "0" "" "" "Japanese" "" "00388409" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R88-098A" "00388410" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R98-468C" "00388411" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R98-468D" "00388455" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "Unsolved case: biallelic causative mutations not identify" "" "" "" "" "0" "" "" "South Asian" "R11-410A" "00388456" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "Unsolved case: biallelic causative mutations not identify" "" "" "" "" "0" "" "" "white" "R10-471" "00393969" "" "" "" "1" "" "00000" "{PMID:Strong-2020:33369054}" "" "M" "" "" "" "0" "" "" "" "" "00418506" "" "" "" "1" "" "00006" "{PMID:He 2022:35121647}" "" "" "" "China" "" "0" "" "" "" "Fam3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 23 "{{individualid}}" "{{diseaseid}}" "00108617" "00372" "00292530" "00198" "00292531" "00198" "00292532" "00198" "00292533" "00198" "00292534" "00198" "00300262" "05635" "00300263" "05635" "00304771" "00198" "00304772" "00198" "00320364" "00871" "00320365" "00871" "00320367" "00871" "00320368" "00871" "00331593" "05517" "00387594" "04214" "00388409" "00198" "00388410" "00198" "00388411" "00198" "00388455" "00198" "00388456" "00198" "00393969" "04214" "00418506" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00372, 00871, 00872, 04214, 05517, 05635 ## Count = 12 "{{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}}" "0000087174" "00372" "00108617" "02185" "Familial, autosomal recessive" "01y" "Craniosynostosis sagittal (HPO:000442), Craniosynostosis coronal (HPO:000440), Dolichocephaly (HPO: ), Nephronophthisis (HPO:000090), Sate 2 chronic kidney disease (HPO:0012624), short limbs (HPO:0009826), Narrow thorax (HPO:0000774), Brachydactyly (HPO:0001156), Abnormal teeth (HPO:0000164), Everted lower lip (HPO:0000233), Epicanthic folds (HPO:0000286)" "" "01y06m" "" "" "" "" "" "" "" "" "" "0000227563" "05635" "00300262" "00006" "Familial, autosomal recessive" "<0d" "22w-delivery; scalp edema, low set ears; hypertelorism; thin upper lip and micrognathia; narrow and barrel shaped chest, short and bent ribs, handlebar clavicles; micromelia with bowing of the radii and ulnae; abnormal ilia with abnormal absent sciatic notch and unformed acetabular roof; micromelia; postaxial polydactyly in the hands and feet, and aphalangia in the hands" "" "" "" "" "" "" "" "" "SRTD7" "short rib polydactyly syndrome" "" "0000227564" "05635" "00300263" "00006" "Familial, autosomal recessive" "<0d" "23w-delivery; scalp edema; very short, variably bent ribs, handlebar clavicles; micromelia with bowing of the radii and ulnae; flat acetabular roof, narrow sacrosciatic notch; micromelia, bending of the tibae and fibulae; poor mineralization of the hands and feet, no polydactyly" "" "" "" "" "" "" "" "" "SRTD7" "short rib polydactyly syndrome" "" "0000242375" "00871" "00320367" "02185" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000249785" "05517" "00331593" "00000" "Familial, autosomal recessive" "" "Strabismus, Renal insufficiency, Hepatic fibrosis, Global developmental delay, Limb under No" "" "" "" "" "" "" "" "" "Ciliopathies with major skeletal involvement" "skeletal dysplasia" "" "0000281157" "04214" "00387594" "00000" "Familial" "" "Intellectual disability, optic coloboma and cystic kidney" "15y" "" "" "" "" "" "" "" "" "Nephronophthisis" "" "0000281961" "00198" "00388409" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000281962" "00198" "00388410" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000281963" "00198" "00388411" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000282007" "00198" "00388455" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS II)" "" "0000282008" "00198" "00388456" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS II)" "" "0000287175" "04214" "00393969" "00000" "Unknown" "" "ductal plate malformation, cirrhosis, developmental delay, hypertension, and abnormal kidney echogenicity" "" "" "" "" "" "" "" "" "" "Ciliopathies" "" ## Screenings ## Do not remove or alter this header ## ## Count = 24 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000109084" "00108617" "1" "02185" "02185" "2017-07-27 11:54:42" "" "" "SEQ" "DNA" "blood" "" "0000109085" "00108617" "1" "02185" "02185" "2017-07-27 12:14:58" "" "" "SEQ" "DNA" "blood" "" "0000293698" "00292530" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293699" "00292531" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293700" "00292532" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293701" "00292533" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293702" "00292534" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000301381" "00300262" "1" "00006" "00006" "2020-04-25 19:30:00" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000301382" "00300263" "1" "00006" "00006" "2020-04-25 19:30:00" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000305900" "00304771" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305901" "00304772" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000321550" "00320364" "1" "02185" "02185" "2020-11-28 16:55:16" "" "" "SEQ-NG" "DNA" "" "" "0000321551" "00320365" "1" "02185" "02185" "2020-11-28 17:12:52" "" "" "SEQ" "DNA" "" "" "0000321553" "00320367" "1" "02185" "02185" "2020-11-28 17:35:44" "" "" "SEQ" "DNA" "" "" "0000321554" "00320368" "1" "02185" "02185" "2020-11-28 17:42:54" "" "" "SEQ" "DNA" "" "" "0000332812" "00331593" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000388820" "00387594" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ-NG;PCR" "DNA" "blood" "" "0000389650" "00388409" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389651" "00388410" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389652" "00388411" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389696" "00388455" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389697" "00388456" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000395217" "00393969" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "" "0000419801" "00418506" "1" "00006" "00006" "2022-09-29 15:33:30" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood, muscle" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{geneid}}" "0000109084" "WDR35" "0000109085" "WDR35" "0000301381" "WDR35" "0000301382" "WDR35" "0000321551" "WDR35" "0000321553" "WDR35" "0000321554" "WDR35" "0000332812" "WDR35" "0000388820" "WDR35" "0000389650" "WDR35" "0000389651" "WDR35" "0000389652" "WDR35" "0000389696" "WDR35" "0000389697" "WDR35" "0000395217" "WDR35" ## 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 = 141 "{{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}}" "0000175148" "11" "70" "2" "20178611" "20178611" "subst" "8.1324E-6" "02185" "WDR35_000002" "g.20178611G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.19978850G>A" "" "likely pathogenic" "" "0000175149" "21" "70" "2" "20135290" "20135290" "subst" "0" "02185" "WDR35_000001" "g.20135290T>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.19935529T>A" "" "likely pathogenic" "" "0000252547" "0" "90" "2" "20141557" "20141557" "subst" "0.000135952" "02326" "WDR35_000010" "g.20141557A>C" "" "" "" "WDR35(NM_020779.4):c.1889T>G (p.(Leu630Ter), p.L630*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19941796A>C" "" "pathogenic" "" "0000255202" "0" "30" "2" "20141619" "20141619" "subst" "5.47208E-6" "01943" "WDR35_000011" "g.20141619A>C" "" "" "" "WDR35(NM_001006657.1):c.1879-19T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19941858A>C" "" "likely benign" "" "0000313060" "0" "10" "2" "20131184" "20131184" "subst" "0.98987" "02325" "WDR35_000005" "g.20131184C>A" "" "" "" "WDR35(NM_001006657.1):c.2857-14G>T, WDR35(NM_001006657.2):c.2857-14G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19931423C>A" "" "benign" "" "0000313061" "0" "10" "2" "20131079" "20131079" "subst" "0.33835" "02325" "WDR35_000004" "g.20131079T>C" "" "" "" "WDR35(NM_001006657.1):c.2948A>G (p.E983G), WDR35(NM_001006657.2):c.2948A>G (p.E983G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19931318T>C" "" "benign" "" "0000319831" "0" "50" "2" "20166496" "20166496" "subst" "0.00169081" "01943" "WDR35_000018" "g.20166496T>A" "" "" "" "WDR35(NM_001006657.1):c.1183A>T (p.N395Y, p.(Asn395Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19966735T>A" "" "VUS" "" "0000319832" "0" "30" "2" "20153693" "20153693" "subst" "2.43673E-5" "01943" "WDR35_000017" "g.20153693C>T" "" "" "" "WDR35(NM_001006657.1):c.1335G>A (p.S445=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19953932C>T" "" "likely benign" "" "0000319833" "0" "30" "2" "20147914" "20147914" "subst" "0.00208537" "01943" "WDR35_000015" "g.20147914G>T" "" "" "" "WDR35(NM_001006657.1):c.1557+11C>A, WDR35(NM_001006657.2):c.1557+11C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19948153G>T" "" "likely benign" "" "0000319834" "0" "50" "2" "20146255" "20146255" "subst" "0.0027671" "01943" "WDR35_000014" "g.20146255C>T" "" "" "" "WDR35(NM_001006657.1):c.1634G>A (p.R545Q, p.(Arg545Gln)), WDR35(NM_001006657.2):c.1634G>A (p.R545Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19946494C>T" "" "VUS" "" "0000319835" "0" "50" "2" "20138152" "20138152" "subst" "0" "01943" "WDR35_000009" "g.20138152T>C" "" "" "" "WDR35(NM_001006657.1):c.1970A>G (p.H657R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19938391T>C" "" "VUS" "" "0000319836" "0" "10" "2" "20135283" "20135283" "subst" "0.473121" "01943" "WDR35_000007" "g.20135283T>C" "" "" "" "WDR35(NM_001006657.1):c.2529A>G (p.E843=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19935522T>C" "" "benign" "" "0000319837" "0" "10" "2" "20133221" "20133221" "subst" "0.0526752" "01943" "WDR35_000006" "g.20133221C>T" "" "" "" "WDR35(NM_001006657.1):c.2632G>A (p.A878T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19933460C>T" "" "benign" "" "0000319838" "0" "10" "2" "20131184" "20131184" "subst" "0.98987" "01943" "WDR35_000005" "g.20131184C>A" "" "" "" "WDR35(NM_001006657.1):c.2857-14G>T, WDR35(NM_001006657.2):c.2857-14G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19931423C>A" "" "benign" "" "0000319839" "0" "10" "2" "20131079" "20131079" "subst" "0.33835" "01943" "WDR35_000004" "g.20131079T>C" "" "" "" "WDR35(NM_001006657.1):c.2948A>G (p.E983G), WDR35(NM_001006657.2):c.2948A>G (p.E983G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19931318T>C" "" "benign" "" "0000319840" "0" "10" "2" "20130145" "20130145" "subst" "0.11425" "01943" "WDR35_000003" "g.20130145T>G" "" "" "" "WDR35(NM_001006657.1):c.3154+12A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19930384T>G" "" "benign" "" "0000319841" "0" "50" "2" "20113966" "20113966" "subst" "8.12381E-6" "01943" "WDR35_000033" "g.20113966C>T" "" "" "" "WDR35(NM_001006657.1):c.3227G>A (p.C1076Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19914205C>T" "" "VUS" "" "0000319842" "0" "50" "2" "20175364" "20175364" "subst" "8.12592E-6" "01943" "WDR35_000025" "g.20175364G>T" "" "" "" "WDR35(NM_001006657.1):c.497C>A (p.A166E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19975603G>T" "" "VUS" "" "0000319843" "0" "10" "2" "20189015" "20189015" "subst" "0.107749" "01943" "WDR35_000026" "g.20189015T>C" "" "" "" "WDR35(NM_001006657.1):c.53A>G (p.Q18R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19989254T>C" "" "benign" "" "0000319844" "0" "10" "2" "20175312" "20175312" "subst" "0.0436054" "01943" "WDR35_000024" "g.20175312G>A" "" "" "" "WDR35(NM_001006657.1):c.549C>T (p.Y183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19975551G>A" "" "benign" "" "0000319845" "0" "30" "2" "20174308" "20174308" "subst" "4.06911E-5" "01943" "WDR35_000023" "g.20174308G>A" "" "" "" "WDR35(NM_001006657.1):c.657C>T (p.Y219=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19974547G>A" "" "likely benign" "" "0000326874" "0" "30" "2" "20114032" "20114032" "subst" "4.06309E-6" "01804" "WDR35_000034" "g.20114032T>A" "" "" "" "WDR35(NM_001006657.1):c.3161A>T (p.(His1054Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19914271T>A" "" "likely benign" "" "0000326875" "0" "50" "2" "20135321" "20135321" "subst" "0.000138582" "01804" "WDR35_000008" "g.20135321G>A" "" "" "" "WDR35(NM_001006657.1):c.2491C>T (p.(Arg831Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19935560G>A" "" "VUS" "" "0000326877" "0" "50" "2" "20145755" "20145755" "subst" "0.000146431" "01804" "WDR35_000013" "g.20145755C>T" "" "" "" "WDR35(NM_001006657.1):c.1670G>A (p.(Arg557His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19945994C>T" "" "VUS" "" "0000326881" "0" "30" "2" "20169260" "20169260" "subst" "1.63016E-5" "01804" "WDR35_000021" "g.20169260T>C" "" "" "" "WDR35(NM_001006657.1):c.989A>G (p.(Asn330Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19969499T>C" "" "likely benign" "" "0000337449" "0" "90" "2" "20114039" "20114039" "subst" "0" "02327" "WDR35_000029" "g.20114039C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19914278C>T" "" "pathogenic" "" "0000337450" "0" "10" "2" "20130145" "20130145" "subst" "0.11425" "02327" "WDR35_000003" "g.20130145T>G" "" "" "" "WDR35(NM_001006657.1):c.3154+12A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19930384T>G" "" "benign" "" "0000337451" "0" "10" "2" "20131184" "20131184" "subst" "0.98987" "02327" "WDR35_000005" "g.20131184C>A" "" "" "" "WDR35(NM_001006657.1):c.2857-14G>T, WDR35(NM_001006657.2):c.2857-14G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19931423C>A" "" "benign" "" "0000339619" "0" "10" "2" "20135283" "20135283" "subst" "0.473121" "02327" "WDR35_000007" "g.20135283T>C" "" "" "" "WDR35(NM_001006657.1):c.2529A>G (p.E843=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19935522T>C" "" "benign" "" "0000339620" "0" "10" "2" "20175312" "20175312" "subst" "0.0436054" "02327" "WDR35_000024" "g.20175312G>A" "" "" "" "WDR35(NM_001006657.1):c.549C>T (p.Y183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19975551G>A" "" "benign" "" "0000341109" "0" "50" "2" "20113954" "20113954" "subst" "0" "02327" "WDR35_000028" "g.20113954G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19914193G>A" "" "VUS" "" "0000341612" "0" "10" "2" "20133221" "20133221" "subst" "0.0526752" "02327" "WDR35_000006" "g.20133221C>T" "" "" "" "WDR35(NM_001006657.1):c.2632G>A (p.A878T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19933460C>T" "" "benign" "" "0000344626" "0" "10" "2" "20189015" "20189015" "subst" "0.107749" "02327" "WDR35_000026" "g.20189015T>C" "" "" "" "WDR35(NM_001006657.1):c.53A>G (p.Q18R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19989254T>C" "" "benign" "" "0000345603" "0" "10" "2" "20131079" "20131079" "subst" "0.33835" "02327" "WDR35_000004" "g.20131079T>C" "" "" "" "WDR35(NM_001006657.1):c.2948A>G (p.E983G), WDR35(NM_001006657.2):c.2948A>G (p.E983G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19931318T>C" "" "benign" "" "0000348625" "0" "90" "2" "20131137" "20131137" "del" "0" "02327" "WDR35_000031" "g.20131137del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19931376del" "" "pathogenic" "" "0000349769" "0" "50" "2" "20169317" "20169317" "subst" "2.84495E-5" "02327" "WDR35_000032" "g.20169317C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19969556C>A" "" "VUS" "" "0000351007" "0" "90" "2" "20113489" "20113500" "del" "0" "02327" "WDR35_000027" "g.20113489_20113500del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19913728_19913739del" "" "pathogenic" "" "0000351008" "0" "90" "2" "20131029" "20131029" "subst" "0" "02327" "WDR35_000030" "g.20131029C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19931268C>T" "" "pathogenic" "" "0000513862" "0" "50" "2" "20130259" "20130259" "subst" "0.0101816" "01943" "WDR35_000035" "g.20130259G>A" "" "" "" "WDR35(NM_001006657.1):c.3052C>T (p.R1018C, p.(Arg1018Cys)), WDR35(NM_020779.4):c.3019C>T (p.R1007C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19930498G>A" "" "VUS" "" "0000513863" "0" "30" "2" "20130259" "20130259" "subst" "0.0101816" "01804" "WDR35_000035" "g.20130259G>A" "" "" "" "WDR35(NM_001006657.1):c.3052C>T (p.R1018C, p.(Arg1018Cys)), WDR35(NM_020779.4):c.3019C>T (p.R1007C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19930498G>A" "" "likely benign" "" "0000513864" "0" "10" "2" "20130259" "20130259" "subst" "0.0101816" "02326" "WDR35_000035" "g.20130259G>A" "" "" "" "WDR35(NM_001006657.1):c.3052C>T (p.R1018C, p.(Arg1018Cys)), WDR35(NM_020779.4):c.3019C>T (p.R1007C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19930498G>A" "" "benign" "" "0000513866" "0" "90" "2" "20133230" "20133230" "subst" "4.06461E-6" "02327" "WDR35_000037" "g.20133230C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19933469C>T" "" "pathogenic" "" "0000513871" "0" "30" "2" "20146255" "20146255" "subst" "0.0027671" "01804" "WDR35_000014" "g.20146255C>T" "" "" "" "WDR35(NM_001006657.1):c.1634G>A (p.R545Q, p.(Arg545Gln)), WDR35(NM_001006657.2):c.1634G>A (p.R545Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19946494C>T" "" "likely benign" "" "0000513872" "0" "30" "2" "20151169" "20151169" "subst" "0" "02325" "WDR35_000039" "g.20151169C>A" "" "" "" "WDR35(NM_001006657.2):c.1503+7G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19951408C>A" "" "likely benign" "" "0000513874" "0" "30" "2" "20162057" "20162057" "subst" "0.000150579" "01804" "WDR35_000041" "g.20162057G>A" "" "" "" "WDR35(NM_001006657.1):c.1226C>T (p.(Thr409Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19962296G>A" "" "likely benign" "" "0000513875" "0" "10" "2" "20166590" "20166590" "subst" "0.00189392" "01943" "WDR35_000042" "g.20166590C>T" "" "" "" "WDR35(NM_001006657.1):c.1089G>A (p.T363=), WDR35(NM_001006657.2):c.1089G>A (p.T363=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19966829C>T" "" "benign" "" "0000513879" "0" "30" "2" "20178593" "20178593" "subst" "0.00163804" "01804" "WDR35_000044" "g.20178593G>A" "" "" "" "WDR35(NM_001006657.1):c.355C>T (p.R119C, p.(Arg119Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19978832G>A" "" "likely benign" "" "0000513880" "0" "90" "2" "20189045" "20189045" "subst" "8.12209E-6" "02327" "MATN3_000033" "g.20189045T>C" "" "" "" "WDR35(NM_001006657.1):c.25-2A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19989284T>C" "" "pathogenic" "" "0000607378" "0" "30" "2" "20130154" "20130154" "subst" "0.00198219" "01943" "WDR35_000045" "g.20130154C>T" "" "" "" "WDR35(NM_001006657.1):c.3154+3G>A (p.?), WDR35(NM_001006657.2):c.3154+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19930393C>T" "" "likely benign" "" "0000607379" "0" "50" "2" "20151204" "20151204" "subst" "4.08654E-6" "01804" "WDR35_000047" "g.20151204C>T" "" "" "" "WDR35(NM_001006657.1):c.1475G>A (p.(Gly492Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19951443C>T" "" "VUS" "" "0000607380" "0" "30" "2" "20173353" "20173353" "subst" "0.000402024" "01943" "WDR35_000048" "g.20173353T>A" "" "" "" "WDR35(NM_001006657.1):c.853A>T (p.I285F, p.(Ile285Phe)), WDR35(NM_001006657.2):c.853A>T (p.I285F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19973592T>A" "" "likely benign" "" "0000607381" "0" "30" "2" "20178639" "20178639" "subst" "4.06818E-6" "01804" "WDR35_000049" "g.20178639G>A" "" "" "" "WDR35(NM_001006657.1):c.309C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19978878G>A" "" "likely benign" "" "0000607382" "0" "50" "2" "20180473" "20180473" "subst" "4.06266E-6" "01943" "WDR35_000050" "g.20180473T>G" "" "" "" "WDR35(NM_001006657.1):c.286A>C (p.I96L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19980712T>G" "" "VUS" "" "0000620917" "0" "30" "2" "20130211" "20130211" "subst" "1.62464E-5" "01943" "WDR35_000046" "g.20130211T>C" "" "" "" "WDR35(NM_001006657.1):c.3100A>G (p.I1034V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19930450T>C" "" "likely benign" "" "0000650387" "1" "30" "2" "20110483" "20110483" "subst" "0" "03575" "WDR35_000051" "g.20110483G>A" "268/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "268 heterozygous; {DB:CLININrs74469198}" "Germline" "" "rs74469198" "0" "" "" "g.19910722G>A" "" "likely benign" "" "0000650388" "1" "10" "2" "20130259" "20130259" "subst" "0.0101816" "03575" "WDR35_000035" "g.20130259G>A" "10/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "10 heterozygous, no homozygous; {DB:CLININrs56395266}" "Germline" "" "rs56395266" "0" "" "" "g.19930498G>A" "" "benign" "" "0000650389" "1" "50" "2" "20132090" "20132090" "subst" "0.000496088" "03575" "WDR35_000052" "g.20132090T>C" "17/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "17 heterozygous, no homozygous; {DB:CLININrs75602337}" "Germline" "" "rs75602337" "0" "" "" "g.19932329T>C" "" "VUS" "" "0000650390" "1" "30" "2" "20133221" "20133221" "subst" "0.0526752" "03575" "WDR35_000006" "g.20133221C>T" "179/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "179 heterozygous; {DB:CLININrs2293669}" "Germline" "" "rs2293669" "0" "" "" "g.19933460C>T" "" "likely benign" "" "0000650391" "1" "50" "2" "20137706" "20137706" "subst" "0.000310085" "03575" "WDR35_000053" "g.20137706G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs140196566}" "Germline" "" "rs140196566" "0" "" "" "g.19937945G>A" "" "VUS" "" "0000654487" "0" "30" "2" "20137636" "20137636" "subst" "8.12902E-6" "01943" "WDR35_000038" "g.20137636T>C" "" "" "" "WDR35(NM_001006657.1):c.2168A>G (p.K723R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19937875T>C" "" "likely benign" "" "0000659754" "21" "79" "2" "20189774" "20189774" "subst" "0" "02185" "WDR35_000054" "g.20189774C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.19990013C>T" "" "likely pathogenic (recessive)" "" "0000659755" "11" "77" "2" "20135290" "20135290" "subst" "0" "02185" "WDR35_000001" "g.20135290T>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.19935529T>A" "" "likely pathogenic (recessive)" "" "0000664308" "1" "90" "2" "20153595" "20153595" "subst" "0" "00006" "WDR35_000055" "g.20153595C>T" "" "{PMID:Duran 2017:28400947}" "" "" "" "Germline" "" "" "0" "" "" "g.19953834C>T" "" "pathogenic (recessive)" "" "0000664309" "1" "90" "2" "20169317" "20169317" "subst" "2.84495E-5" "00006" "WDR35_000032" "g.20169317C>A" "" "{PMID:Duran 2017:28400947}" "" "" "" "Germline" "" "" "0" "" "" "g.19969556C>A" "" "pathogenic (dominant)" "" "0000664310" "2" "90" "2" "20146310" "20146310" "subst" "4.06365E-6" "00006" "WDR35_000056" "g.20146310G>A" "" "{PMID:Duran 2017:28400947}" "" "" "" "Germline" "" "" "0" "" "" "g.19946549G>A" "" "pathogenic (recessive)" "" "0000664311" "2" "90" "2" "20151178" "20151178" "del" "8.22937E-6" "00006" "WDR35_000057" "g.20151178del" "" "{PMID:Duran 2017:28400947}" "" "1501delC" "" "Germline" "" "" "0" "" "" "g.19951417del" "" "pathogenic (recessive)" "" "0000669588" "3" "30" "2" "20110483" "20110483" "subst" "0" "03575" "WDR35_000051" "g.20110483G>A" "8/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 homozygous; {DB:CLININrs74469198}" "Germline" "" "rs74469198" "0" "" "" "g.19910722G>A" "" "likely benign" "" "0000669589" "3" "30" "2" "20133221" "20133221" "subst" "0.0526752" "03575" "WDR35_000006" "g.20133221C>T" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 homozygous; {DB:CLININrs2293669}" "Germline" "" "rs2293669" "0" "" "" "g.19933460C>T" "" "likely benign" "" "0000688595" "0" "50" "2" "20178593" "20178593" "subst" "0.00163804" "01943" "WDR35_000044" "g.20178593G>A" "" "" "" "WDR35(NM_001006657.1):c.355C>T (p.R119C, p.(Arg119Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000704455" "11" "77" "2" "19941796" "19941796" "subst" "0" "02185" "WDR35_000058" "g.19941796A>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000704456" "21" "77" "2" "19935529" "19935529" "subst" "0" "02185" "WDR35_000001" "g.19935529T>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000704457" "11" "77" "2" "19941796" "19941796" "subst" "0" "02185" "WDR35_000010" "g.19941796A>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000704458" "21" "77" "2" "19935529" "19935529" "subst" "0" "02185" "WDR35_000001" "g.19935529T>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000704459" "21" "77" "2" "19941796" "19941796" "subst" "0" "02185" "WDR35_000010" "g.19941796A>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000704461" "11" "77" "2" "19935529" "19935529" "subst" "0" "02185" "WDR35_000001" "g.19935529T>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000704462" "11" "77" "2" "19941796" "19941796" "subst" "0" "02185" "WDR35_000010" "g.19941796A>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000704463" "21" "77" "2" "19935529" "19935529" "subst" "0" "02185" "WDR35_000001" "g.19935529T>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000718369" "0" "30" "2" "20130154" "20130154" "subst" "0.00198219" "01804" "WDR35_000045" "g.20130154C>T" "" "" "" "WDR35(NM_001006657.1):c.3154+3G>A (p.?), WDR35(NM_001006657.2):c.3154+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718370" "0" "50" "2" "20132097" "20132097" "subst" "4.06653E-5" "01943" "WDR35_000059" "g.20132097C>T" "" "" "" "WDR35(NM_001006657.1):c.2803G>A (p.E935K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718371" "0" "30" "2" "20166496" "20166496" "subst" "0.00169081" "01804" "WDR35_000018" "g.20166496T>A" "" "" "" "WDR35(NM_001006657.1):c.1183A>T (p.N395Y, p.(Asn395Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718372" "0" "30" "2" "20173436" "20173436" "subst" "0.00152775" "01943" "WDR35_000060" "g.20173436A>G" "" "" "" "WDR35(NM_001006657.1):c.770T>C (p.V257A, p.(Val257Ala)), WDR35(NM_001006657.2):c.770T>C (p.V257A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000730094" "3" "90" "2" "20182232" "20182232" "subst" "0" "00000" "WDR35_000061" "g.20182232C>T" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_001006657.1:c.206G>A:p.(Gly69Asp)" "" "Germline" "" "" "0" "" "" "g.19982471C>T" "" "pathogenic (recessive)" "" "0000800261" "0" "90" "2" "20130303" "20130325" "dup" "0" "01943" "WDR35_000062" "g.20130303_20130325dup" "" "" "" "WDR35(NM_001006657.1):c.3011_3012insTACTCGTAGGCCACTTCTGCCTT (p.L1004Ffs*54)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000800262" "0" "30" "2" "20130317" "20130317" "subst" "0.000513105" "01943" "WDR35_000063" "g.20130317C>A" "" "" "" "WDR35(NM_001006657.1):c.2998-4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800263" "0" "30" "2" "20135255" "20135255" "subst" "2.854E-5" "01804" "WDR35_000064" "g.20135255G>A" "" "" "" "WDR35(NM_001006657.1):c.2557C>T (p.(Pro853Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800264" "0" "50" "2" "20145731" "20145731" "subst" "0" "01943" "WDR35_000065" "g.20145731C>A" "" "" "" "WDR35(NM_001006657.1):c.1694G>T (p.G565V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800265" "0" "50" "2" "20153665" "20153665" "subst" "0.000134023" "01804" "WDR35_000066" "g.20153665G>A" "" "" "" "WDR35(NM_001006657.1):c.1363C>T (p.(Arg455Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800266" "0" "50" "2" "20178541" "20178541" "subst" "0" "01943" "WDR35_000067" "g.20178541T>A" "" "" "" "WDR35(NM_001006657.1):c.407A>T (p.D136V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000817578" "10" "70" "2" "20174343" "20174343" "subst" "0" "00000" "WDR35_000069" "g.20174343C>G" "" "{PMID:Yamamura 2019:26968886}" "" "c.622G>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817579" "20" "70" "2" "20137670" "20137670" "del" "0" "00000" "WDR35_000068" "g.20137670del" "" "{PMID:Yamamura 2020:26968886}" "" "c.2134delC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000818828" "0" "90" "2" "20153592" "20153592" "subst" "8.12447E-6" "00000" "WDR35_000070" "g.20153592T>C" "" "{PMID:Zhang-2019:29068549}" "" "NM_001006657.1:c.1433+3A>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818829" "0" "90" "2" "20169317" "20169317" "subst" "2.84495E-5" "00000" "WDR35_000032" "g.20169317C>A" "" "{PMID:Zhang-2019:29068549}" "" "NM_001006657.1:c.932G>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818830" "0" "90" "2" "20141557" "20141557" "subst" "0.000135952" "00000" "WDR35_000010" "g.20141557A>C" "" "{PMID:Zhang-2019:29068549}" "" "NM_001006657.1:c.1922T>G" "Variant published before in Li 2015 with p.Ser168Arg" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818831" "0" "90" "2" "20135290" "20135290" "subst" "0" "00000" "WDR35_000001" "g.20135290T>A" "" "{PMID:Zhang-2019:29068549}" "" "NM_001006657.1:c.2522A>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818832" "0" "90" "2" "20141557" "20141557" "subst" "0.000135952" "00000" "WDR35_000010" "g.20141557A>C" "" "{PMID:Zhang-2019:29068549}" "" "NM_001006657.1:c.1922T>G" "Variant published before in Li 2015 with p.Ser168Arg" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818833" "0" "90" "2" "20135290" "20135290" "subst" "0" "00000" "WDR35_000001" "g.20135290T>A" "" "{PMID:Zhang-2019:29068549}" "" "NM_001006657.1:c.2522A>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818901" "0" "70" "2" "20182232" "20182232" "subst" "0" "00000" "WDR35_000061" "g.20182232C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001006657.1:c.206G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000818902" "0" "70" "2" "20166496" "20166496" "subst" "0.00169081" "00000" "WDR35_000018" "g.20166496T>A" "" "{PMID:Zhang-2019:29068549}" "" "NM_001006657.1:c.1183A>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826456" "0" "70" "2" "20146256" "20146256" "subst" "1.62533E-5" "00010" "WDR35_000071" "g.20146256G>A" "" "{PMID:Strong-2020:33369054}" "" "c.1633C > T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000826457" "0" "70" "2" "20178640" "20178640" "subst" "4.06861E-6" "00020" "WDR35_000072" "g.20178640C>A" "" "{PMID:Strong-2020:33369054}" "" "c.308G > T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000849641" "0" "30" "2" "20145637" "20145637" "subst" "0.000390025" "02326" "WDR35_000074" "g.20145637G>A" "" "" "" "WDR35(NM_001006657.2):c.1788C>T (p.V596=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849642" "0" "30" "2" "20173353" "20173353" "subst" "0.000402024" "02326" "WDR35_000048" "g.20173353T>A" "" "" "" "WDR35(NM_001006657.1):c.853A>T (p.I285F, p.(Ile285Phe)), WDR35(NM_001006657.2):c.853A>T (p.I285F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849643" "0" "30" "2" "20173436" "20173436" "subst" "0.00152775" "02326" "WDR35_000060" "g.20173436A>G" "" "" "" "WDR35(NM_001006657.1):c.770T>C (p.V257A, p.(Val257Ala)), WDR35(NM_001006657.2):c.770T>C (p.V257A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858236" "0" "50" "2" "20137705" "20137705" "subst" "0.000473079" "01804" "WDR35_000073" "g.20137705C>T" "" "" "" "WDR35(NM_001006657.1):c.2099G>A (p.(Arg700His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858237" "0" "30" "2" "20173353" "20173353" "subst" "0.000402024" "01804" "WDR35_000048" "g.20173353T>A" "" "" "" "WDR35(NM_001006657.1):c.853A>T (p.I285F, p.(Ile285Phe)), WDR35(NM_001006657.2):c.853A>T (p.I285F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858238" "0" "50" "2" "20178625" "20178625" "subst" "0" "01804" "WDR35_000075" "g.20178625T>G" "" "" "" "WDR35(NM_001006657.1):c.323A>C (p.(Glu108Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000879968" "0" "70" "2" "20180552" "20180552" "subst" "0" "00006" "WDR35_000076" "g.20180552A>C" "" "{PMID:He 2022:35121647}" "" "" "ACMG PM2, PP4, PS3" "Germline/De novo (untested)" "" "" "0" "" "" "g.19980791A>C" "" "likely pathogenic" "ACMG" "0000884672" "0" "30" "2" "20131058" "20131058" "subst" "8.12962E-5" "02326" "WDR35_000077" "g.20131058C>T" "" "" "" "WDR35(NM_001006657.2):c.2969G>A (p.R990Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884673" "0" "30" "2" "20135960" "20135960" "subst" "0.000769037" "02326" "WDR35_000078" "g.20135960G>A" "" "" "" "WDR35(NM_001006657.2):c.2447+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884674" "0" "30" "2" "20137622" "20137622" "subst" "0.00465345" "02326" "WDR35_000079" "g.20137622T>C" "" "" "" "WDR35(NM_001006657.2):c.2182A>G (p.I728V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884675" "0" "50" "2" "20141576" "20141576" "subst" "0" "01804" "WDR35_000080" "g.20141576T>A" "" "" "" "WDR35(NM_001006657.1):c.1903A>T (p.(Ile635Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000884676" "0" "30" "2" "20166621" "20166621" "subst" "0.00143038" "02326" "WDR35_000081" "g.20166621C>G" "" "" "" "WDR35(NM_001006657.2):c.1058G>C (p.R353P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884677" "0" "30" "2" "20173436" "20173436" "subst" "0.00152775" "01804" "WDR35_000060" "g.20173436A>G" "" "" "" "WDR35(NM_001006657.1):c.770T>C (p.V257A, p.(Val257Ala)), WDR35(NM_001006657.2):c.770T>C (p.V257A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884678" "0" "30" "2" "20175437" "20175437" "subst" "0.000199109" "02326" "WDR35_000082" "g.20175437A>G" "" "" "" "WDR35(NM_001006657.2):c.437-13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884679" "0" "90" "2" "20189045" "20189045" "subst" "8.12209E-6" "01804" "MATN3_000033" "g.20189045T>C" "" "" "" "WDR35(NM_001006657.1):c.25-2A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000911501" "0" "30" "2" "20130154" "20130154" "subst" "0.00198219" "02326" "WDR35_000045" "g.20130154C>T" "" "" "" "WDR35(NM_001006657.1):c.3154+3G>A (p.?), WDR35(NM_001006657.2):c.3154+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911502" "0" "30" "2" "20141619" "20141619" "del" "0" "02326" "WDR35_000083" "g.20141619del" "" "" "" "WDR35(NM_001006657.2):c.1879-11delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911503" "0" "30" "2" "20147985" "20147985" "subst" "0.000222297" "02326" "WDR35_000084" "g.20147985T>C" "" "" "" "WDR35(NM_001006657.2):c.1504-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911504" "0" "30" "2" "20162068" "20162068" "subst" "0.00125342" "02326" "WDR35_000085" "g.20162068T>C" "" "" "" "WDR35(NM_001006657.2):c.1215A>G (p.T405=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911505" "0" "30" "2" "20173445" "20173445" "subst" "0.000434963" "02326" "WDR35_000086" "g.20173445A>G" "" "" "" "WDR35(NM_001006657.2):c.761T>C (p.M254T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911506" "0" "30" "2" "20192876" "20192876" "subst" "2.85745E-5" "01804" "MATN3_000049" "g.20192876C>T" "" "" "" "MATN3(NM_002381.4):c.1457G>A (p.(Arg486His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923555" "0" "30" "2" "20166590" "20166590" "subst" "0.00189392" "02326" "WDR35_000042" "g.20166590C>T" "" "" "" "WDR35(NM_001006657.1):c.1089G>A (p.T363=), WDR35(NM_001006657.2):c.1089G>A (p.T363=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928468" "0" "30" "2" "20147914" "20147914" "subst" "0.00208537" "02326" "WDR35_000015" "g.20147914G>T" "" "" "" "WDR35(NM_001006657.1):c.1557+11C>A, WDR35(NM_001006657.2):c.1557+11C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947677" "0" "10" "2" "20146255" "20146255" "subst" "0.0027671" "02326" "WDR35_000014" "g.20146255C>T" "" "" "" "WDR35(NM_001006657.1):c.1634G>A (p.R545Q, p.(Arg545Gln)), WDR35(NM_001006657.2):c.1634G>A (p.R545Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000961792" "0" "90" "2" "20145622" "20145622" "subst" "0" "02326" "WDR35_000087" "g.20145622C>T" "" "" "" "WDR35(NM_001006657.2):c.1803G>A (p.W601*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000961793" "0" "90" "2" "20153595" "20153596" "del" "0" "02326" "WDR35_000088" "g.20153595_20153596del" "" "" "" "WDR35(NM_001006657.2):c.1432_1433delAG (p.R478Nfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000961794" "0" "30" "2" "20153619" "20153619" "subst" "8.93481E-5" "02326" "WDR35_000089" "g.20153619C>T" "" "" "" "WDR35(NM_001006657.2):c.1409G>A (p.R470Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974852" "0" "70" "2" "20113335" "20113335" "subst" "4.0624E-6" "01804" "WDR35_000090" "g.20113335T>C" "" "" "" "WDR35(NM_020779.4):c.3497A>G (p.(His1166Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000974853" "0" "70" "2" "20130271" "20130271" "del" "0" "01804" "WDR35_000091" "g.20130271del" "" "" "" "WDR35(NM_020779.4):c.3007del (p.(Ser1003Leufs*36))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000974854" "0" "70" "2" "20132103" "20132103" "dup" "0" "01804" "WDR35_000092" "g.20132103dup" "" "" "" "WDR35(NM_020779.4):c.2764dup (p.(Ala922GlyfsTer13))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000974855" "0" "90" "2" "20141557" "20141557" "subst" "0.000135952" "01804" "WDR35_000010" "g.20141557A>C" "" "" "" "WDR35(NM_020779.4):c.1889T>G (p.(Leu630Ter), p.L630*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000974856" "0" "30" "2" "20147922" "20147922" "subst" "4.12443E-6" "01804" "WDR35_000093" "g.20147922T>C" "" "" "" "WDR35(NM_020779.4):c.1524+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974857" "0" "50" "2" "20147930" "20147930" "subst" "4.10873E-6" "01804" "WDR35_000094" "g.20147930T>A" "" "" "" "WDR35(NM_020779.4):c.1519A>T (p.(Ile507Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974858" "0" "50" "2" "20151194" "20151194" "dup" "0" "01804" "WDR35_000095" "g.20151194dup" "" "" "" "WDR35(NM_020779.4):c.1453dup (p.(Tyr485LeufsTer2))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992362" "0" "70" "2" "20133164" "20133164" "subst" "0" "01804" "WDR35_000096" "g.20133164G>A" "" "" "" "WDR35(NM_020779.3):c.2656C>T (p.(Gln886*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001032886" "0" "50" "2" "20113929" "20113929" "subst" "0" "01804" "WDR35_000097" "g.20113929G>T" "" "" "" "WDR35(NM_020779.4):c.3231C>A (p.(Phe1077Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032887" "0" "50" "2" "20131131" "20131131" "subst" "2.84486E-5" "01804" "WDR35_000098" "g.20131131G>A" "" "" "" "WDR35(NM_020779.4):c.2863C>T (p.(Arg955Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032888" "0" "50" "2" "20133176" "20133176" "subst" "2.03234E-5" "01804" "WDR35_000099" "g.20133176C>T" "" "" "" "WDR35(NM_020779.4):c.2644G>A (p.(Val882Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032889" "0" "50" "2" "20136015" "20136015" "subst" "0" "01804" "WDR35_000100" "g.20136015A>C" "" "" "" "WDR35(NM_020779.4):c.2379T>G (p.(Asn793Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032890" "0" "70" "2" "20138025" "20138025" "subst" "0" "01804" "WDR35_000101" "g.20138025C>T" "" "" "" "WDR35(NM_020779.4):c.2063+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001032892" "0" "50" "2" "20166598" "20166598" "subst" "0" "01804" "WDR35_000102" "g.20166598A>G" "" "" "" "WDR35(NM_020779.4):c.1081T>C (p.(Trp361Arg))" "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 WDR35 ## Count = 141 "{{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}}" "0000175148" "00024301" "70" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Arg113*)" "5" "0000175149" "00024301" "70" "2522" "0" "2522" "0" "c.2522A>T" "r.(?)" "p.(Asp841Val)" "22" "0000252547" "00024301" "90" "1922" "0" "1922" "0" "c.1922T>G" "r.(?)" "p.(Leu641Ter)" "" "0000255202" "00024301" "30" "1879" "-19" "1879" "-19" "c.1879-19T>G" "r.(=)" "p.(=)" "" "0000313060" "00024301" "10" "2857" "-14" "2857" "-14" "c.2857-14G>T" "r.(=)" "p.(=)" "" "0000313061" "00024301" "10" "2948" "0" "2948" "0" "c.2948A>G" "r.(?)" "p.(Glu983Gly)" "" "0000319831" "00024301" "50" "1183" "0" "1183" "0" "c.1183A>T" "r.(?)" "p.(Asn395Tyr)" "" "0000319832" "00024301" "30" "1335" "0" "1335" "0" "c.1335G>A" "r.(?)" "p.(Ser445=)" "" "0000319833" "00024301" "30" "1557" "11" "1557" "11" "c.1557+11C>A" "r.(=)" "p.(=)" "" "0000319834" "00024301" "50" "1634" "0" "1634" "0" "c.1634G>A" "r.(?)" "p.(Arg545Gln)" "" "0000319835" "00024301" "50" "1970" "0" "1970" "0" "c.1970A>G" "r.(?)" "p.(His657Arg)" "" "0000319836" "00024301" "10" "2529" "0" "2529" "0" "c.2529A>G" "r.(?)" "p.(Glu843=)" "" "0000319837" "00024301" "10" "2632" "0" "2632" "0" "c.2632G>A" "r.(?)" "p.(Ala878Thr)" "" "0000319838" "00024301" "10" "2857" "-14" "2857" "-14" "c.2857-14G>T" "r.(=)" "p.(=)" "" "0000319839" "00024301" "10" "2948" "0" "2948" "0" "c.2948A>G" "r.(?)" "p.(Glu983Gly)" "" "0000319840" "00024301" "10" "3154" "12" "3154" "12" "c.3154+12A>C" "r.(=)" "p.(=)" "" "0000319841" "00024301" "50" "3227" "0" "3227" "0" "c.3227G>A" "r.(?)" "p.(Cys1076Tyr)" "" "0000319842" "00024301" "50" "497" "0" "497" "0" "c.497C>A" "r.(?)" "p.(Ala166Glu)" "" "0000319843" "00024301" "10" "53" "0" "53" "0" "c.53A>G" "r.(?)" "p.(Gln18Arg)" "" "0000319844" "00024301" "10" "549" "0" "549" "0" "c.549C>T" "r.(?)" "p.(Tyr183=)" "" "0000319845" "00024301" "30" "657" "0" "657" "0" "c.657C>T" "r.(?)" "p.(Tyr219=)" "" "0000326874" "00024301" "30" "3161" "0" "3161" "0" "c.3161A>T" "r.(?)" "p.(His1054Leu)" "" "0000326875" "00024301" "50" "2491" "0" "2491" "0" "c.2491C>T" "r.(?)" "p.(Arg831Cys)" "" "0000326877" "00024301" "50" "1670" "0" "1670" "0" "c.1670G>A" "r.(?)" "p.(Arg557His)" "" "0000326881" "00024301" "30" "989" "0" "989" "0" "c.989A>G" "r.(?)" "p.(Asn330Ser)" "" "0000337449" "00024301" "90" "3155" "-1" "3155" "-1" "c.3155-1G>A" "r.spl?" "p.?" "" "0000337450" "00024301" "10" "3154" "12" "3154" "12" "c.3154+12A>C" "r.(=)" "p.(=)" "" "0000337451" "00024301" "10" "2857" "-14" "2857" "-14" "c.2857-14G>T" "r.(=)" "p.(=)" "" "0000339619" "00024301" "10" "2529" "0" "2529" "0" "c.2529A>G" "r.(?)" "p.(Glu843=)" "" "0000339620" "00024301" "10" "549" "0" "549" "0" "c.549C>T" "r.(?)" "p.(Tyr183=)" "" "0000341109" "00024301" "50" "3239" "0" "3239" "0" "c.3239C>T" "r.(?)" "p.(Ala1080Val)" "" "0000341612" "00024301" "10" "2632" "0" "2632" "0" "c.2632G>A" "r.(?)" "p.(Ala878Thr)" "" "0000344626" "00024301" "10" "53" "0" "53" "0" "c.53A>G" "r.(?)" "p.(Gln18Arg)" "" "0000345603" "00024301" "10" "2948" "0" "2948" "0" "c.2948A>G" "r.(?)" "p.(Glu983Gly)" "" "0000348625" "00024301" "90" "2891" "0" "2891" "0" "c.2891del" "r.(?)" "p.(Pro964LeufsTer15)" "" "0000349769" "00024301" "50" "932" "0" "932" "0" "c.932G>T" "r.(?)" "p.(Trp311Leu)" "" "0000351007" "00024301" "90" "3396" "-29" "3396" "-18" "c.3396-29_3396-18del" "r.(=)" "p.(=)" "" "0000351008" "00024301" "90" "2997" "1" "2997" "1" "c.2997+1G>A" "r.spl?" "p.?" "" "0000513862" "00024301" "50" "3052" "0" "3052" "0" "c.3052C>T" "r.(?)" "p.(Arg1018Cys)" "" "0000513863" "00024301" "30" "3052" "0" "3052" "0" "c.3052C>T" "r.(?)" "p.(Arg1018Cys)" "" "0000513864" "00024301" "10" "3052" "0" "3052" "0" "c.3052C>T" "r.(?)" "p.(Arg1018Cys)" "" "0000513866" "00024301" "90" "2623" "0" "2623" "0" "c.2623G>A" "r.(?)" "p.(Ala875Thr)" "" "0000513871" "00024301" "30" "1634" "0" "1634" "0" "c.1634G>A" "r.(?)" "p.(Arg545Gln)" "" "0000513872" "00024301" "30" "1503" "7" "1503" "7" "c.1503+7G>T" "r.(=)" "p.(=)" "" "0000513874" "00024301" "30" "1226" "0" "1226" "0" "c.1226C>T" "r.(?)" "p.(Thr409Met)" "" "0000513875" "00024301" "10" "1089" "0" "1089" "0" "c.1089G>A" "r.(?)" "p.(Thr363=)" "" "0000513879" "00024301" "30" "355" "0" "355" "0" "c.355C>T" "r.(?)" "p.(Arg119Cys)" "" "0000513880" "00024301" "90" "25" "-2" "25" "-2" "c.25-2A>G" "r.spl?" "p.?" "" "0000607378" "00024301" "30" "3154" "3" "3154" "3" "c.3154+3G>A" "r.spl?" "p.?" "" "0000607379" "00024301" "50" "1475" "0" "1475" "0" "c.1475G>A" "r.(?)" "p.(Gly492Asp)" "" "0000607380" "00024301" "30" "853" "0" "853" "0" "c.853A>T" "r.(?)" "p.(Ile285Phe)" "" "0000607381" "00024301" "30" "309" "0" "309" "0" "c.309C>T" "r.(?)" "p.(Gly103=)" "" "0000607382" "00024301" "50" "286" "0" "286" "0" "c.286A>C" "r.(?)" "p.(Ile96Leu)" "" "0000620917" "00024301" "30" "3100" "0" "3100" "0" "c.3100A>G" "r.(?)" "p.(Ile1034Val)" "" "0000650387" "00024301" "30" "6382" "0" "6382" "0" "c.*2836C>T" "r.(=)" "p.(=)" "" "0000650388" "00024301" "10" "3052" "0" "3052" "0" "c.3052C>T" "r.(?)" "p.(Arg1018Cys)" "" "0000650389" "00024301" "50" "2810" "0" "2810" "0" "c.2810A>G" "r.(?)" "p.(Tyr937Cys)" "" "0000650390" "00024301" "30" "2632" "0" "2632" "0" "c.2632G>A" "r.(?)" "p.(Ala878Thr)" "" "0000650391" "00024301" "50" "2098" "0" "2098" "0" "c.2098C>T" "r.(?)" "p.(Arg700Cys)" "" "0000654487" "00024301" "30" "2168" "0" "2168" "0" "c.2168A>G" "r.(?)" "p.(Lys723Arg)" "" "0000659754" "00024301" "79" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.(Met1_Ala30delinsMetfs*4)" "1" "0000659755" "00024301" "77" "2522" "0" "2522" "0" "c.2522A>T" "r.(?)" "p.(Asp841Val)" "22" "0000664308" "00024301" "90" "1433" "0" "1433" "0" "c.1433G>A" "r.(?)" "p.(Arg478Lys)" "" "0000664309" "00024301" "90" "932" "0" "932" "0" "c.932G>T" "r.(?)" "p.(Trp311Leu)" "" "0000664310" "00024301" "90" "1579" "0" "1579" "0" "c.1579C>T" "r.(?)" "p.(Gln527*)" "" "0000664311" "00024301" "90" "1501" "0" "1501" "0" "c.1501del" "r.(?)" "p.(Gln501Lysfs*10)" "" "0000669588" "00024301" "30" "6382" "0" "6382" "0" "c.*2836C>T" "r.(=)" "p.(=)" "" "0000669589" "00024301" "30" "2632" "0" "2632" "0" "c.2632G>A" "r.(?)" "p.(Ala878Thr)" "" "0000688595" "00024301" "50" "355" "0" "355" "0" "c.355C>T" "r.(?)" "p.(Arg119Cys)" "" "0000704455" "00024301" "77" "1922" "0" "1922" "0" "c.1922T>G" "r.(?)" "p.(Leu641*)" "18" "0000704456" "00024301" "77" "2522" "0" "2522" "0" "c.2522A>T" "r.(?)" "p.(Asp841Val)" "22" "0000704457" "00024301" "77" "1922" "0" "1922" "0" "c.1922T>G" "r.(?)" "p.(Leu641*)" "18" "0000704458" "00024301" "77" "2522" "0" "2522" "0" "c.2522A>T" "r.(?)" "p.(Asp841Val)" "22" "0000704459" "00024301" "77" "1922" "0" "1922" "0" "c.1922T>G" "r.(?)" "p.(Leu641*)" "18" "0000704461" "00024301" "77" "2522" "0" "2522" "0" "c.2522A>T" "r.(?)" "p.(Asp841Val)" "22" "0000704462" "00024301" "77" "1922" "0" "1922" "0" "c.1922T>G" "r.(?)" "p.(Leu641*)" "18" "0000704463" "00024301" "77" "2522" "0" "2522" "0" "c.2522A>T" "r.(?)" "p.(Asp841Val)" "22" "0000718369" "00024301" "30" "3154" "3" "3154" "3" "c.3154+3G>A" "r.spl?" "p.?" "" "0000718370" "00024301" "50" "2803" "0" "2803" "0" "c.2803G>A" "r.(?)" "p.(Glu935Lys)" "" "0000718371" "00024301" "30" "1183" "0" "1183" "0" "c.1183A>T" "r.(?)" "p.(Asn395Tyr)" "" "0000718372" "00024301" "30" "770" "0" "770" "0" "c.770T>C" "r.(?)" "p.(Val257Ala)" "" "0000730094" "00024301" "90" "206" "0" "206" "0" "c.206G>A" "r.(?)" "p.(Gly69Asp)" "" "0000800261" "00024301" "90" "2998" "-9" "3011" "0" "c.2998-9_3011dup" "r.spl?" "p.?" "" "0000800262" "00024301" "30" "2998" "-4" "2998" "-4" "c.2998-4G>T" "r.spl?" "p.?" "" "0000800263" "00024301" "30" "2557" "0" "2557" "0" "c.2557C>T" "r.(?)" "p.(Pro853Ser)" "" "0000800264" "00024301" "50" "1694" "0" "1694" "0" "c.1694G>T" "r.(?)" "p.(Gly565Val)" "" "0000800265" "00024301" "50" "1363" "0" "1363" "0" "c.1363C>T" "r.(?)" "p.(Arg455Cys)" "" "0000800266" "00024301" "50" "407" "0" "407" "0" "c.407A>T" "r.(?)" "p.(Asp136Val)" "" "0000817578" "00024301" "70" "622" "0" "622" "0" "c.622G>C" "r.(?)" "p.(Ala208Pro)" "7" "0000817579" "00024301" "70" "2134" "0" "2134" "0" "c.2134del" "r.(?)" "p.(Leu712Tyrfs*20)" "20" "0000818828" "00024301" "90" "1433" "3" "1433" "3" "c.1433+3A>G" "r.spl?" "p.?" "13i" "0000818829" "00024301" "90" "932" "0" "932" "0" "c.932G>T" "r.(?)" "p.(Trp311Leu)" "9" "0000818830" "00024301" "90" "1922" "0" "1922" "0" "c.1922T>G" "r.(?)" "p.(Leu641*)" "18" "0000818831" "00024301" "90" "2522" "0" "2522" "0" "c.2522A>T" "r.(?)" "p.(Asp841Val)" "22" "0000818832" "00024301" "90" "1922" "0" "1922" "0" "c.1922T>G" "r.(?)" "p.(Leu641*)" "18" "0000818833" "00024301" "90" "2522" "0" "2522" "0" "c.2522A>T" "r.(?)" "p.(Asp841Val)" "22" "0000818901" "00024301" "70" "206" "0" "206" "0" "c.206G>A" "r.(?)" "p.(Gly69Asp)" "3" "0000818902" "00024301" "70" "1183" "0" "1183" "0" "c.1183A>T" "r.(?)" "p.(Asn395Tyr)" "10" "0000826456" "00024301" "70" "1633" "0" "1633" "0" "c.1633C>T" "r.(?)" "p.(Arg545*)" "16" "0000826457" "00024301" "70" "308" "0" "308" "0" "c.308G>T" "r.(?)" "p.(Gly103Val)" "5" "0000849641" "00024301" "30" "1788" "0" "1788" "0" "c.1788C>T" "r.(?)" "p.(Val596=)" "" "0000849642" "00024301" "30" "853" "0" "853" "0" "c.853A>T" "r.(?)" "p.(Ile285Phe)" "" "0000849643" "00024301" "30" "770" "0" "770" "0" "c.770T>C" "r.(?)" "p.(Val257Ala)" "" "0000858236" "00024301" "50" "2099" "0" "2099" "0" "c.2099G>A" "r.(?)" "p.(Arg700His)" "" "0000858237" "00024301" "30" "853" "0" "853" "0" "c.853A>T" "r.(?)" "p.(Ile285Phe)" "" "0000858238" "00024301" "50" "323" "0" "323" "0" "c.323A>C" "r.(?)" "p.(Glu108Ala)" "" "0000879968" "00024301" "70" "215" "-8" "215" "-8" "c.215-8T>G" "r.214_215ins215-7_215-1" "p.Val74Argfs*10" "" "0000884672" "00024301" "30" "2969" "0" "2969" "0" "c.2969G>A" "r.(?)" "p.(Arg990Gln)" "" "0000884673" "00024301" "30" "2447" "20" "2447" "20" "c.2447+20C>T" "r.(=)" "p.(=)" "" "0000884674" "00024301" "30" "2182" "0" "2182" "0" "c.2182A>G" "r.(?)" "p.(Ile728Val)" "" "0000884675" "00024301" "50" "1903" "0" "1903" "0" "c.1903A>T" "r.(?)" "p.(Ile635Phe)" "" "0000884676" "00024301" "30" "1058" "0" "1058" "0" "c.1058G>C" "r.(?)" "p.(Arg353Pro)" "" "0000884677" "00024301" "30" "770" "0" "770" "0" "c.770T>C" "r.(?)" "p.(Val257Ala)" "" "0000884678" "00024301" "30" "437" "-13" "437" "-13" "c.437-13T>C" "r.(=)" "p.(=)" "" "0000884679" "00024301" "90" "25" "-2" "25" "-2" "c.25-2A>G" "r.spl?" "p.?" "" "0000911501" "00024301" "30" "3154" "3" "3154" "3" "c.3154+3G>A" "r.spl?" "p.?" "" "0000911502" "00024301" "30" "1879" "-11" "1879" "-11" "c.1879-11del" "r.(=)" "p.(=)" "" "0000911503" "00024301" "30" "1504" "-7" "1504" "-7" "c.1504-7A>G" "r.(=)" "p.(=)" "" "0000911504" "00024301" "30" "1215" "0" "1215" "0" "c.1215A>G" "r.(?)" "p.(Thr405=)" "" "0000911505" "00024301" "30" "761" "0" "761" "0" "c.761T>C" "r.(?)" "p.(Met254Thr)" "" "0000911506" "00024301" "30" "-3100" "0" "-3100" "0" "c.-3100G>A" "r.(?)" "p.(=)" "" "0000923555" "00024301" "30" "1089" "0" "1089" "0" "c.1089G>A" "r.(?)" "p.(Thr363=)" "" "0000928468" "00024301" "30" "1557" "11" "1557" "11" "c.1557+11C>A" "r.(=)" "p.(=)" "" "0000947677" "00024301" "10" "1634" "0" "1634" "0" "c.1634G>A" "r.(?)" "p.(Arg545Gln)" "" "0000961792" "00024301" "90" "1803" "0" "1803" "0" "c.1803G>A" "r.(?)" "p.(Trp601*)" "" "0000961793" "00024301" "90" "1432" "0" "1433" "0" "c.1432_1433del" "r.(?)" "p.(Arg478Asnfs*5)" "" "0000961794" "00024301" "30" "1409" "0" "1409" "0" "c.1409G>A" "r.(?)" "p.(Arg470Gln)" "" "0000974852" "00024301" "70" "3530" "0" "3530" "0" "c.3530A>G" "r.(?)" "p.(His1177Arg)" "" "0000974853" "00024301" "70" "3040" "0" "3040" "0" "c.3040del" "r.(?)" "p.(Ser1014Leufs*36)" "" "0000974854" "00024301" "70" "2797" "0" "2797" "0" "c.2797dup" "r.(?)" "p.(Ala933Glyfs*13)" "" "0000974855" "00024301" "90" "1922" "0" "1922" "0" "c.1922T>G" "r.(?)" "p.(Leu641Ter)" "" "0000974856" "00024301" "30" "1557" "3" "1557" "3" "c.1557+3A>G" "r.spl?" "p.?" "" "0000974857" "00024301" "50" "1552" "0" "1552" "0" "c.1552A>T" "r.(?)" "p.(Ile518Phe)" "" "0000974858" "00024301" "50" "1486" "0" "1486" "0" "c.1486dup" "r.(?)" "p.(Tyr496Leufs*2)" "" "0000992362" "00024301" "70" "2689" "0" "2689" "0" "c.2689C>T" "r.(?)" "p.(Gln897*)" "" "0001032886" "00024301" "50" "3264" "0" "3264" "0" "c.3264C>A" "r.(?)" "p.(Phe1088Leu)" "" "0001032887" "00024301" "50" "2896" "0" "2896" "0" "c.2896C>T" "r.(?)" "p.(Arg966Cys)" "" "0001032888" "00024301" "50" "2677" "0" "2677" "0" "c.2677G>A" "r.(?)" "p.(Val893Ile)" "" "0001032889" "00024301" "50" "2412" "0" "2412" "0" "c.2412T>G" "r.(?)" "p.(Asn804Lys)" "" "0001032890" "00024301" "70" "2096" "1" "2096" "1" "c.2096+1G>A" "r.spl?" "p.?" "" "0001032892" "00024301" "50" "1081" "0" "1081" "0" "c.1081T>C" "r.(?)" "p.(Trp361Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 35 "{{screeningid}}" "{{variantid}}" "0000109084" "0000175148" "0000109085" "0000175149" "0000293698" "0000650387" "0000293699" "0000650388" "0000293700" "0000650389" "0000293701" "0000650390" "0000293702" "0000650391" "0000301381" "0000664308" "0000301381" "0000664310" "0000301382" "0000664309" "0000301382" "0000664311" "0000305900" "0000669588" "0000305901" "0000669589" "0000321550" "0000704455" "0000321550" "0000704456" "0000321551" "0000704457" "0000321551" "0000704458" "0000321553" "0000704459" "0000321553" "0000704461" "0000321554" "0000704462" "0000321554" "0000704463" "0000332812" "0000730094" "0000388820" "0000817578" "0000388820" "0000817579" "0000389650" "0000818828" "0000389650" "0000818829" "0000389651" "0000818830" "0000389651" "0000818831" "0000389652" "0000818832" "0000389652" "0000818833" "0000389696" "0000818901" "0000389697" "0000818902" "0000395217" "0000826456" "0000395217" "0000826457" "0000419801" "0000879968"