### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PLK4) # 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}}" "PLK4" "polo-like kinase 4" "4" "q27-q28" "unknown" "NG_041821.1" "UD_132610772264" "" "http://www.LOVD.nl/PLK4" "" "1" "11397" "10733" "605031" "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/PLK4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-06-11 19:22:07" "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}}" "00024140" "PLK4" "transcript variant 1" "001" "NM_014264.4" "" "NP_055079.3" "" "" "" "-274" "3596" "2913" "128802016" "128820379" "00006" "2016-06-11 19:20:46" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00201" "INFM" "infertility, male (INFM)" "" "" "" "" "" "00006" "2013-09-14 21:03:39" "00006" "2015-12-07 07:11:25" "02495" "MCPH2" "microcephaly, type 2, autosomal recessive, with/without cortical malformations (MCPH-2)" "AR" "604317" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04615" "MCCRP2" "microcephaly and chorioretinopathy, autosomal recessive, type 2 (MCCRP-2)" "AR" "616171" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PLK4" "04615" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00072170" "" "" "" "1" "" "01617" "" "" "F" "no" "Japan" "" "0" "" "" "" "" "00081828" "" "" "" "3" "" "01793" "7-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives" "" "F" "" "" "" "0" "" "" "" "FamPatVIII2" "00081843" "" "" "00081828" "1" "" "01793" "{PMID:Dincer 2017:28832566}, {DOI:Dincer 2017:10.1038/ejhg.2017.120}" "relative of FamPatVIII2" "M" "yes" "Turkey" "" "0" "" "" "" "FamPatVII2" "00293544" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00314844" "" "" "" "1" "" "00006" "{PMID:Nakamura 2017:28718531}" "" "" "" "Japan" "" "0" "" "" "" "Pat10" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00072170" "04615" "00081828" "04615" "00081843" "02495" "00293544" "00198" "00314844" "00201" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00201, 02495, 04615 ## Count = 4 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000053267" "04615" "00072170" "01617" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "0000061487" "04615" "00081828" "01793" "Familial, autosomal recessive" "" "Intellectual disability, severe (HP:0010864)\r\nAbsent speech (HP:0001344)\r\nSloping forehead (HP:0000340)\r\nProminent metopic ridge (HP:0005487)\r\nUpslanted palpebral fissure (HP:0000582)\r\nBlepharophimosis (HP:0000581)\r\nEpicanthus (HP:0000286)\r\nMacrotia (HP:0000400)\r\nProminent nose (HP:0000448)\r\nThin upper lip vermilion (HP:0000219)\r\nHigh arched palate (HP:0002705)\r\nMicrognathia (HP:0000347)\r\nClinodactyly of the 5th finger (HP:0004209)\r\nDelayed skeletal maturation (HP:0002750)\r\nHypoplasia of the radius (HP:0002984)\r\nEpiphysiolysis in distal femur (HP:0006461)\r\nMicrocephaly (HP:0000252)\r\nCortical gyral simplification (HP:0009879)" "00y09m?" "00y09m" "9m" "" "" "" "" "" "" "" "0000061488" "04615" "00081843" "01793" "Familial, autosomal recessive" "" "Intellectual disability, severe (HP:0010864)\r\nSloping forehead (HP:0000340)\r\nUpslanted palpebral fissure (HP:0000582)\r\nBlepharophimosis (HP:0000581)\r\nEpicanthus (HP:0000286)\r\nProminent nose (HP:0000448)\r\nMicrognathia (HP:0000347)" "" "" "" "" "" "" "" "" "" "" "0000238602" "00201" "00314844" "00006" "Unknown" "" "see paper; idiopathic non-obstructive azoospermia, ..." "" "" "" "" "" "" "" "" "non-obstructive azoospermia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000072324" "00072170" "1" "01617" "01617" "2016-05-31 09:43:18" "00006" "2016-06-11 19:27:38" "SEQ-NG" "DNA" "" "" "0000081958" "00081828" "1" "01793" "01793" "2016-10-25 16:56:48" "00006" "2020-10-15 08:41:03" "RT-PCR;SEQ" "DNA;RNA" "connective" "" "0000081980" "00081843" "1" "01793" "01793" "2016-10-28 14:59:21" "" "" "PCR;SEQ" "DNA" "Blood" "" "0000294712" "00293544" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000316017" "00314844" "1" "00006" "00006" "2020-10-19 12:03:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000072324" "PLK4" "0000081958" "PLK4" "0000081980" "PLK4" "0000316017" "PLK4" ## 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 = 53 "{{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}}" "0000115871" "21" "90" "4" "128806967" "128806967" "subst" "1.62438E-5" "01617" "PLK4_000001" "g.128806967A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.127885812A>G" "" "pathogenic" "" "0000115872" "11" "90" "4" "128814681" "128814681" "subst" "0" "01617" "PLK4_000002" "g.128814681G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.127893526G>A" "" "pathogenic" "" "0000134732" "3" "90" "4" "128802983" "128802983" "subst" "0" "01793" "PLK4_000003" "g.128802983A>G" "" "{PMID:Dincer 2017:28832566}, {DOI:Dincer 2017:10.1038/ejhg.2017.120}" "" "" "" "Germline" "yes" "" "0" "" "" "g.127881828A>G" "" "pathogenic (recessive)" "" "0000134831" "3" "90" "4" "128802983" "128802983" "subst" "0" "01793" "PLK4_000003" "g.128802983A>G" "" "{PMID:Dincer 2017:28832566}, {DOI:Dincer 2017:10.1038/ejhg.2017.120}" "" "" "" "Germline" "yes" "" "0" "" "" "g.127881828A>G" "" "pathogenic (recessive)" "" "0000253717" "0" "10" "4" "128808620" "128808620" "subst" "0.00110669" "01943" "PLK4_000013" "g.128808620A>T" "" "" "" "PLK4(NM_014264.4):c.1428A>T (p.V476=), PLK4(NM_014264.5):c.1428A>T (p.V476=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127887465A>T" "" "benign" "" "0000305903" "0" "90" "4" "128807717" "128807717" "subst" "8.1246E-6" "01943" "PLK4_000008" "g.128807717C>T" "" "" "" "PLK4(NM_014264.4):c.1192C>T (p.R398*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127886562C>T" "" "pathogenic" "" "0000305906" "0" "50" "4" "128802306" "128802306" "subst" "0.00120447" "01943" "PLK4_000004" "g.128802306G>A" "" "" "" "PLK4(NM_014264.4):c.17G>A (p.G6E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127881151G>A" "" "VUS" "" "0000305907" "0" "90" "4" "128814574" "128814574" "subst" "0" "01943" "PLK4_000011" "g.128814574G>A" "" "" "" "PLK4(NM_014264.4):c.2322+1G>A, PLK4(NM_014264.5):c.2322+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127893419G>A" "" "pathogenic" "" "0000305908" "0" "50" "4" "128816204" "128816204" "subst" "8.97051E-5" "01943" "PLK4_000012" "g.128816204C>T" "" "" "" "PLK4(NM_014264.4):c.2659C>T (p.L887F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127895049C>T" "" "VUS" "" "0000305909" "0" "50" "4" "128806961" "128806961" "subst" "0" "01943" "PLK4_000005" "g.128806961C>T" "" "" "" "PLK4(NM_014264.4):c.436C>T (p.R146C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127885806C>T" "" "VUS" "" "0000305910" "0" "50" "4" "128807475" "128807475" "subst" "0.00206322" "01943" "PLK4_000006" "g.128807475C>T" "" "" "" "PLK4(NM_014264.4):c.950C>T (p.P317L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127886320C>T" "" "VUS" "" "0000521637" "0" "50" "4" "128807724" "128807725" "ins" "0" "01943" "PLK4_000015" "g.128807724_128807725insGAA" "" "" "" "PLK4(NM_014264.4):c.1199_1200insGAA (p.H400delinsQN)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127886569_127886570insGAA" "" "VUS" "" "0000521638" "0" "90" "4" "128807824" "128807825" "ins" "0" "01943" "PLK4_000016" "g.128807824_128807825insTAACTTCTTTTAACTTCTTT" "" "" "" "PLK4(NM_014264.4):c.1299_1300insTAACTTCTTTTAACTTCTTT (p.K434*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127886669_127886670insTAACTTCTTTTAACTTCTTT" "" "pathogenic" "" "0000521639" "0" "30" "4" "128807837" "128807837" "subst" "1.23022E-5" "01804" "PLK4_000017" "g.128807837T>C" "" "" "" "PLK4(NM_001190799.1):c.1216T>C (p.(Ser406Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127886682T>C" "" "likely benign" "" "0000521640" "0" "30" "4" "128811117" "128811117" "subst" "0.0116297" "01804" "PLK4_000018" "g.128811117G>C" "" "" "" "PLK4(NM_001190799.1):c.1460G>C (p.(Trp487Ser)), PLK4(NM_014264.5):c.1556G>C (p.W519S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127889962G>C" "" "likely benign" "" "0000521641" "0" "50" "4" "128811266" "128811266" "subst" "0" "01943" "PLK4_000019" "g.128811266G>T" "" "" "" "PLK4(NM_014264.4):c.1705G>T (p.E569*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127890111G>T" "" "VUS" "" "0000521642" "0" "50" "4" "128812773" "128812773" "subst" "0" "01943" "PLK4_000020" "g.128812773C>G" "" "" "" "PLK4(NM_014264.4):c.1975C>G (p.L659V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127891618C>G" "" "VUS" "" "0000521643" "0" "30" "4" "128812790" "128812790" "subst" "8.62887E-5" "01943" "PLK4_000021" "g.128812790C>G" "" "" "" "PLK4(NM_014264.4):c.1992C>G (p.P664=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127891635C>G" "" "likely benign" "" "0000521644" "0" "50" "4" "128814501" "128814501" "subst" "0" "01943" "PLK4_000022" "g.128814501C>G" "" "" "" "PLK4(NM_014264.4):c.2250C>G (p.Y750*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127893346C>G" "" "VUS" "" "0000521646" "0" "50" "4" "128814713" "128814713" "subst" "8.13848E-6" "01943" "PLK4_000024" "g.128814713G>A" "" "" "" "PLK4(NM_014264.4):c.2368G>A (p.E790K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127893558G>A" "" "VUS" "" "0000521647" "0" "50" "4" "128817963" "128817963" "subst" "1.63285E-5" "01943" "PLK4_000025" "g.128817963G>A" "" "" "" "PLK4(NM_014264.4):c.2711G>A (p.S904N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127896808G>A" "" "VUS" "" "0000521648" "0" "30" "4" "128819620" "128819620" "subst" "0" "01804" "PLK4_000026" "g.128819620A>G" "" "" "" "PLK4(NM_001190799.1):c.2741A>G (p.(Asp914Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127898465A>G" "" "likely benign" "" "0000521649" "0" "50" "4" "128819637" "128819637" "subst" "1.65895E-5" "01943" "PLK4_000027" "g.128819637T>G" "" "" "" "PLK4(NM_014264.4):c.2854T>G (p.L952V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127898482T>G" "" "VUS" "" "0000609073" "0" "30" "4" "128807372" "128807372" "subst" "1.62538E-5" "01804" "PLK4_000028" "g.128807372A>G" "" "" "" "PLK4(NM_001190799.1):c.751A>G (p.(Ile251Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127886217A>G" "" "likely benign" "" "0000609074" "0" "50" "4" "128811095" "128811097" "del" "0" "01804" "PLK4_000029" "g.128811095_128811097del" "" "" "" "PLK4(NM_001190799.1):c.1436_1438del (p.(Lys480del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127889940_127889942del" "" "VUS" "" "0000651401" "1" "50" "4" "128802306" "128802306" "subst" "0.00120447" "03575" "PLK4_000004" "g.128802306G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs149003893}" "Germline" "" "rs149003893" "0" "" "" "g.127881151G>A" "" "VUS" "" "0000655096" "0" "30" "4" "128814466" "128814466" "subst" "0" "01804" "PLK4_000030" "g.128814466T>G" "" "" "" "PLK4(NM_001190799.1):c.2119T>G (p.(Phe707Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127893311T>G" "" "likely benign" "" "0000677192" "0" "30" "4" "128811043" "128811043" "subst" "1.66797E-5" "01943" "PLK4_000031" "g.128811043A>G" "" "" "" "PLK4(NM_014264.4):c.1482A>G (p.E494=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677193" "0" "50" "4" "128811280" "128811281" "del" "0" "01943" "PLK4_000032" "g.128811280_128811281del" "" "" "" "PLK4(NM_014264.4):c.1719_1720delTA (p.R574Gfs*41)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689231" "0" "30" "4" "128814953" "128814953" "subst" "4.06299E-6" "01943" "PLK4_000033" "g.128814953C>G" "" "" "" "PLK4(NM_014264.4):c.2479C>G (p.P827A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689232" "0" "30" "4" "128814964" "128814964" "subst" "2.43914E-5" "01943" "PLK4_000034" "g.128814964G>A" "" "" "" "PLK4(NM_014264.4):c.2490G>A (p.E830=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000698133" "0" "50" "4" "128807325" "128807325" "subst" "0.000158589" "00006" "PLK4_000035" "g.128807325G>A" "" "{PMID:Nakamura 2017:28718531}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.127886170G>A" "" "VUS" "" "0000719753" "0" "70" "4" "128807369" "128807369" "del" "0" "02329" "PLK4_000014" "g.128807369del" "" "" "" "PLK4(NM_014264.5):c.844delT (p.S282Qfs*21)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000801514" "0" "50" "4" "128804660" "128804660" "subst" "1.63168E-5" "01943" "PLK4_000036" "g.128804660A>G" "" "" "" "PLK4(NM_014264.4):c.289A>G (p.M97V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801515" "0" "50" "4" "128812331" "128812331" "subst" "1.66387E-5" "01943" "PLK4_000037" "g.128812331A>G" "" "" "" "PLK4(NM_014264.4):c.1915A>G (p.I639V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850523" "0" "30" "4" "128804452" "128804452" "subst" "0.000130203" "01943" "PLK4_000038" "g.128804452A>G" "" "" "" "PLK4(NM_014264.4):c.162A>G (p.V54=), PLK4(NM_014264.5):c.162A>G (p.V54=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850524" "0" "10" "4" "128812244" "128812244" "del" "0" "02330" "PLK4_000039" "g.128812244del" "" "" "" "PLK4(NM_014264.5):c.1831-3delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000850525" "0" "10" "4" "128812244" "128812244" "dup" "0" "02330" "PLK4_000040" "g.128812244dup" "" "" "" "PLK4(NM_014264.5):c.1831-3dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000859241" "0" "10" "4" "128811117" "128811117" "subst" "0.0116297" "02330" "PLK4_000018" "g.128811117G>C" "" "" "" "PLK4(NM_001190799.1):c.1460G>C (p.(Trp487Ser)), PLK4(NM_014264.5):c.1556G>C (p.W519S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000859242" "0" "30" "4" "128812357" "128812357" "subst" "0.000186086" "01943" "PLK4_000041" "g.128812357G>A" "" "" "" "PLK4(NM_014264.4):c.1935+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859243" "0" "10" "4" "128813685" "128813685" "subst" "0.00125078" "02330" "PLK4_000042" "g.128813685A>G" "" "" "" "PLK4(NM_014264.5):c.2188+16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886132" "0" "30" "4" "128807143" "128807143" "subst" "8.93561E-5" "02330" "PLK4_000043" "g.128807143C>T" "" "" "" "PLK4(NM_014264.5):c.618C>T (p.I206=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886133" "0" "30" "4" "128808620" "128808620" "subst" "0.00110669" "02330" "PLK4_000013" "g.128808620A>T" "" "" "" "PLK4(NM_014264.4):c.1428A>T (p.V476=), PLK4(NM_014264.5):c.1428A>T (p.V476=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886134" "0" "30" "4" "128813590" "128813590" "subst" "0.000595414" "02330" "PLK4_000044" "g.128813590C>A" "" "" "" "PLK4(NM_014264.5):c.2109C>A (p.I703=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924060" "0" "30" "4" "128804452" "128804452" "subst" "0.000130203" "02330" "PLK4_000038" "g.128804452A>G" "" "" "" "PLK4(NM_014264.4):c.162A>G (p.V54=), PLK4(NM_014264.5):c.162A>G (p.V54=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924061" "0" "30" "4" "128808556" "128808556" "subst" "0.000796337" "02330" "PLK4_000045" "g.128808556A>G" "" "" "" "PLK4(NM_014264.5):c.1364A>G (p.N455S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948260" "0" "30" "4" "128814957" "128814957" "subst" "0.00149954" "02330" "PLK4_000046" "g.128814957C>T" "" "" "" "PLK4(NM_014264.5):c.2483C>T (p.T828M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976124" "0" "30" "4" "128812243" "128812244" "dup" "0" "01804" "PLK4_000047" "g.128812243_128812244dup" "" "" "" "PLK4(NM_014264.5):c.1831-4_1831-3dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976125" "0" "30" "4" "128814763" "128814763" "subst" "4.62488E-5" "01804" "PLK4_000048" "g.128814763A>C" "" "" "" "PLK4(NM_014264.5):c.2414+4A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034345" "0" "50" "4" "128802979" "128802979" "subst" "8.13895E-6" "01804" "PLK4_000049" "g.128802979T>G" "" "" "" "PLK4(NM_014264.5):c.31-7T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034346" "0" "50" "4" "128803026" "128803026" "subst" "0" "01804" "PLK4_000050" "g.128803026C>G" "" "" "" "PLK4(NM_014264.5):c.71C>G (p.(Ala24Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034347" "0" "30" "4" "128812843" "128812843" "subst" "0" "01804" "PLK4_000051" "g.128812843G>T" "" "" "" "PLK4(NM_014264.5):c.2038+7G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034348" "0" "70" "4" "128814574" "128814574" "subst" "0" "01804" "PLK4_000011" "g.128814574G>A" "" "" "" "PLK4(NM_014264.4):c.2322+1G>A, PLK4(NM_014264.5):c.2322+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes PLK4 ## Count = 53 "{{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}}" "0000115871" "00024140" "90" "442" "0" "442" "0" "c.442A>G" "r.(?)" "p.(Met148Val)" "5" "0000115872" "00024140" "90" "2336" "0" "2336" "0" "c.2336G>A" "r.(?)" "p.(Cys779Tyr)" "12" "0000134732" "00024140" "90" "31" "-3" "31" "-3" "c.31-3A>G" "r.[=,30_31ins31-63_31-4;31-3_31-1delinsgag]" "p.[=,Asp11Profs*14]" "1i" "0000134831" "00024140" "90" "31" "-3" "31" "-3" "c.31-3A>G" "r.spl" "p.?" "1i" "0000253717" "00024140" "10" "1428" "0" "1428" "0" "c.1428A>T" "r.(?)" "p.(Val476=)" "" "0000305903" "00024140" "90" "1192" "0" "1192" "0" "c.1192C>T" "r.(?)" "p.(Arg398Ter)" "" "0000305906" "00024140" "50" "17" "0" "17" "0" "c.17G>A" "r.(?)" "p.(Gly6Glu)" "" "0000305907" "00024140" "90" "2322" "1" "2322" "1" "c.2322+1G>A" "r.spl?" "p.?" "" "0000305908" "00024140" "50" "2659" "0" "2659" "0" "c.2659C>T" "r.(?)" "p.(Leu887Phe)" "" "0000305909" "00024140" "50" "436" "0" "436" "0" "c.436C>T" "r.(?)" "p.(Arg146Cys)" "" "0000305910" "00024140" "50" "950" "0" "950" "0" "c.950C>T" "r.(?)" "p.(Pro317Leu)" "" "0000521637" "00024140" "50" "1199" "0" "1200" "0" "c.1199_1200insGAA" "r.(?)" "p.(His400delinsGlnAsn)" "" "0000521638" "00024140" "90" "1299" "0" "1300" "0" "c.1299_1300insTAACTTCTTTTAACTTCTTT" "r.(?)" "p.(Lys434Ter)" "" "0000521639" "00024140" "30" "1312" "0" "1312" "0" "c.1312T>C" "r.(?)" "p.(Ser438Pro)" "" "0000521640" "00024140" "30" "1556" "0" "1556" "0" "c.1556G>C" "r.(?)" "p.(Trp519Ser)" "" "0000521641" "00024140" "50" "1705" "0" "1705" "0" "c.1705G>T" "r.(?)" "p.(Glu569Ter)" "" "0000521642" "00024140" "50" "1975" "0" "1975" "0" "c.1975C>G" "r.(?)" "p.(Leu659Val)" "" "0000521643" "00024140" "30" "1992" "0" "1992" "0" "c.1992C>G" "r.(?)" "p.(Pro664=)" "" "0000521644" "00024140" "50" "2250" "0" "2250" "0" "c.2250C>G" "r.(?)" "p.(Tyr750Ter)" "" "0000521646" "00024140" "50" "2368" "0" "2368" "0" "c.2368G>A" "r.(?)" "p.(Glu790Lys)" "" "0000521647" "00024140" "50" "2711" "0" "2711" "0" "c.2711G>A" "r.(?)" "p.(Ser904Asn)" "" "0000521648" "00024140" "30" "2837" "0" "2837" "0" "c.2837A>G" "r.(?)" "p.(Asp946Gly)" "" "0000521649" "00024140" "50" "2854" "0" "2854" "0" "c.2854T>G" "r.(?)" "p.(Leu952Val)" "" "0000609073" "00024140" "30" "847" "0" "847" "0" "c.847A>G" "r.(?)" "p.(Ile283Val)" "" "0000609074" "00024140" "50" "1534" "0" "1536" "0" "c.1534_1536del" "r.(?)" "p.(Lys512del)" "" "0000651401" "00024140" "50" "17" "0" "17" "0" "c.17G>A" "r.(?)" "p.(Gly6Glu)" "" "0000655096" "00024140" "30" "2215" "0" "2215" "0" "c.2215T>G" "r.(?)" "p.(Phe739Val)" "" "0000677192" "00024140" "30" "1482" "0" "1482" "0" "c.1482A>G" "r.(?)" "p.(Glu494=)" "" "0000677193" "00024140" "50" "1719" "0" "1720" "0" "c.1719_1720del" "r.(?)" "p.(Arg574GlyfsTer41)" "" "0000689231" "00024140" "30" "2479" "0" "2479" "0" "c.2479C>G" "r.(?)" "p.(Pro827Ala)" "" "0000689232" "00024140" "30" "2490" "0" "2490" "0" "c.2490G>A" "r.(?)" "p.(Glu830=)" "" "0000698133" "00024140" "50" "800" "0" "800" "0" "c.800G>A" "r.(?)" "p.(Arg267Gln)" "" "0000719753" "00024140" "70" "844" "0" "844" "0" "c.844del" "r.(?)" "p.(Ser282GlnfsTer21)" "" "0000801514" "00024140" "50" "289" "0" "289" "0" "c.289A>G" "r.(?)" "p.(Met97Val)" "" "0000801515" "00024140" "50" "1915" "0" "1915" "0" "c.1915A>G" "r.(?)" "p.(Ile639Val)" "" "0000850523" "00024140" "30" "162" "0" "162" "0" "c.162A>G" "r.(?)" "p.(Val54=)" "" "0000850524" "00024140" "10" "1831" "-3" "1831" "-3" "c.1831-3del" "r.spl?" "p.?" "" "0000850525" "00024140" "10" "1831" "-3" "1831" "-3" "c.1831-3dup" "r.spl?" "p.?" "" "0000859241" "00024140" "10" "1556" "0" "1556" "0" "c.1556G>C" "r.(?)" "p.(Trp519Ser)" "" "0000859242" "00024140" "30" "1935" "6" "1935" "6" "c.1935+6G>A" "r.(=)" "p.(=)" "" "0000859243" "00024140" "10" "2188" "16" "2188" "16" "c.2188+16A>G" "r.(=)" "p.(=)" "" "0000886132" "00024140" "30" "618" "0" "618" "0" "c.618C>T" "r.(?)" "p.(Ile206=)" "" "0000886133" "00024140" "30" "1428" "0" "1428" "0" "c.1428A>T" "r.(?)" "p.(Val476=)" "" "0000886134" "00024140" "30" "2109" "0" "2109" "0" "c.2109C>A" "r.(?)" "p.(Ile703=)" "" "0000924060" "00024140" "30" "162" "0" "162" "0" "c.162A>G" "r.(?)" "p.(Val54=)" "" "0000924061" "00024140" "30" "1364" "0" "1364" "0" "c.1364A>G" "r.(?)" "p.(Asn455Ser)" "" "0000948260" "00024140" "30" "2483" "0" "2483" "0" "c.2483C>T" "r.(?)" "p.(Thr828Met)" "" "0000976124" "00024140" "30" "1831" "-4" "1831" "-3" "c.1831-4_1831-3dup" "r.spl?" "p.?" "" "0000976125" "00024140" "30" "2414" "4" "2414" "4" "c.2414+4A>C" "r.spl?" "p.?" "" "0001034345" "00024140" "50" "31" "-7" "31" "-7" "c.31-7T>G" "r.(=)" "p.(=)" "" "0001034346" "00024140" "50" "71" "0" "71" "0" "c.71C>G" "r.(?)" "p.(Ala24Gly)" "" "0001034347" "00024140" "30" "2038" "7" "2038" "7" "c.2038+7G>T" "r.(=)" "p.(=)" "" "0001034348" "00024140" "70" "2322" "1" "2322" "1" "c.2322+1G>A" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000072324" "0000115871" "0000072324" "0000115872" "0000081958" "0000134732" "0000081980" "0000134831" "0000294712" "0000651401" "0000316017" "0000698133"