### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PLXNA3) # 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}}" "PLXNA3" "plexin A3" "X" "q28" "unknown" "NG_021298.2" "UD_132118353933" "" "https://www.LOVD.nl/PLXNA3" "" "1" "9101" "55558" "300022" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/PLXNA3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2009-03-06 00:00:00" "00006" "2018-10-23 21:14:14" "00000" "2022-05-09 16:01:56" ## 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}}" "00016391" "PLXNA3" "plexin A3" "001" "NM_017514.3" "" "NP_059984.2" "" "" "" "-173" "6573" "5616" "153686623" "153701985" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 16 "{{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}}" "00050693" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00104566" "" "" "" "1" "" "01836" "{PMID:Poirier 2017:28585349}, {DOI:Poirier 2017:10.1002/humu.23270}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "France" "" "0" "" "" "" "28585349-FamPat1" "00172787" "" "" "" "2" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172788" "" "" "" "3" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172789" "" "" "" "10" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172790" "" "" "" "9" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172791" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172792" "" "" "" "2" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172793" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172794" "" "" "" "19" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172795" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172796" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172797" "" "" "" "2" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00181184" "" "" "" "1" "" "02552" "" "" "M" "no" "Switzerland" "" "0" "" "" "" "68047" "00183135" "" "" "" "1" "" "00006" "{PMID:Hu 2016:25644381}" "family, 1 affected, 4 unaffected heterozygous carrier females" "M" "" "" "" "0" "" "" "" "25644381-FamMRX75/D13" "00334968" "" "" "" "1" "" "00000" "{PMID:Jin 2017:28373534}" "" "" "" "China" "" "0" "" "" "" "H45" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 16 "{{individualid}}" "{{diseaseid}}" "00050693" "00198" "00104566" "00139" "00172787" "00187" "00172788" "00187" "00172789" "00187" "00172790" "00187" "00172791" "00187" "00172792" "00187" "00172793" "00187" "00172794" "00187" "00172795" "00187" "00172796" "00187" "00172797" "00187" "00181184" "00344" "00183135" "00187" "00334968" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 00198, 00344 ## Count = 16 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{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}}" "0000037305" "00198" "00050693" "00006" "Isolated (sporadic)" "" "drooling, unsteady gait, abnormal facial shape, lactose intolerance" "" "" "" "" "" "" "" "" "" "" "" "" "0000082483" "00139" "00104566" "01836" "Isolated (sporadic)" "" "born at term after, uneventful pregnancy; birth weight/height/head circumference normal; mild developmental delay, hypotonia, lingual protrusion; 11m-crawling, 24m-walking; 6y-intellectual disability, severe attention and learning difficulties, autistic traits preferring to be alone; 7y-started to speak few words; 10y facial dysmorphy with mandibular prognathism, open mouth fixed O position, protruded tongue, bushy eyebrows, flat philtrum; MRI brain and ECG normal; metabolic investigations normal except rISED serum creatine phosphokinase (341IU)" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000137651" "00187" "00172787" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137652" "00187" "00172788" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137653" "00187" "00172789" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137654" "00187" "00172790" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137655" "00187" "00172791" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137656" "00187" "00172792" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137657" "00187" "00172793" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137658" "00187" "00172794" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137659" "00187" "00172795" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137660" "00187" "00172796" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137661" "00187" "00172797" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000143889" "00187" "00183135" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "" "0000144010" "00344" "00181184" "02552" "Isolated (sporadic)" "" "" "01y06m" "" "" "" "" "" "" "" "" "" "" "" "0000252715" "00198" "00334968" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "high myopia, early-onset" "" ## Screenings ## Do not remove or alter this header ## ## Count = 16 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050638" "00050693" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000105038" "00104566" "1" "01836" "01836" "2017-05-15 12:24:57" "00006" "2019-03-01 10:54:57" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000173670" "00172787" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000173671" "00172788" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000173672" "00172789" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000173673" "00172790" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000173674" "00172791" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000173675" "00172792" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000173676" "00172793" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000173677" "00172794" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000173678" "00172795" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000173679" "00172796" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000173680" "00172797" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000182142" "00181184" "1" "02552" "02552" "2018-10-02 15:25:01" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000184093" "00183135" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome" "0000336199" "00334968" "1" "00000" "00006" "2021-03-02 16:14:24" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{geneid}}" "0000105038" "BMP15" "0000105038" "CSNK2B" "0000105038" "GPR144" "0000105038" "HEPH" "0000105038" "PLXNA3" "0000173670" "PLXNA3" "0000173671" "PLXNA3" "0000173672" "PLXNA3" "0000173673" "PLXNA3" "0000173674" "PLXNA3" "0000173675" "PLXNA3" "0000173676" "HAUS7" "0000173677" "HAUS7" "0000173678" "HAUS7" "0000173679" "HAUS7" "0000173680" "NUP62CL" "0000184093" "GDI1" "0000336199" "FAM161A" "0000336199" "PLXNA3" ## 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 = 145 "{{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}}" "0000079618" "21" "90" "X" "153565841" "154722429" "dup" "0" "00006" "DKC1_000000" "g.153565841_154722429dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "increased gene dosage" "Germline" "" "" "0" "" "" "g.154337626_155494214dup" "" "pathogenic" "" "0000170290" "21" "50" "X" "153696236" "153696236" "subst" "0.000521888" "01836" "PLXNA3_000001" "g.153696236G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.154467893G>A" "" "VUS" "" "0000254379" "0" "30" "X" "153692601" "153692601" "subst" "0" "01943" "PLXNA3_000011" "g.153692601A>T" "" "" "" "PLXNA3(NM_017514.4):c.1773A>T (p.E591D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154464258A>T" "" "likely benign" "" "0000256670" "0" "50" "X" "153690592" "153690592" "subst" "0" "01943" "PLXNA3_000007" "g.153690592A>G" "" "" "" "PLXNA3(NM_017514.4):c.1259A>G (p.Y420C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154462252A>G" "" "VUS" "" "0000305949" "0" "50" "X" "153691738" "153691738" "subst" "0.0000112339" "01943" "PLXNA3_000009" "g.153691738G>A" "" "" "" "PLXNA3(NM_017514.3):c.1322G>A (p.(Arg441Gln)), PLXNA3(NM_017514.4):c.1322G>A (p.R441Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154463395G>A" "" "VUS" "" "0000305950" "0" "30" "X" "153692834" "153692834" "subst" "0.000264756" "01943" "PLXNA3_000012" "g.153692834G>A" "" "" "" "PLXNA3(NM_017514.4):c.1918G>A (p.V640I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154464491G>A" "" "likely benign" "" "0000305951" "0" "30" "X" "153696236" "153696236" "subst" "0.000521888" "01943" "PLXNA3_000001" "g.153696236G>A" "" "" "" "PLXNA3(NM_017514.3):c.3712G>A (p.(Val1238Met)), PLXNA3(NM_017514.4):c.3712G>A (p.V1238M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154467893G>A" "" "likely benign" "" "0000305952" "0" "50" "X" "153698920" "153698920" "subst" "0" "01943" "PLXNA3_000023" "g.153698920G>A" "" "" "" "PLXNA3(NM_017514.4):c.5122G>A (p.D1708N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154470577G>A" "" "VUS" "" "0000305953" "0" "30" "X" "153689529" "153689529" "subst" "0.000184817" "01943" "PLXNA3_000005" "g.153689529G>A" "" "" "" "PLXNA3(NM_017514.4):c.685G>A (p.G229S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154461189G>A" "" "likely benign" "" "0000305954" "0" "30" "X" "153688602" "153688602" "subst" "0.000379976" "01943" "PLXNA3_000002" "g.153688602G>A" "" "" "" "PLXNA3(NM_017514.4):c.79G>A (p.V27M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154460262G>A" "" "likely benign" "" "0000336237" "0" "50" "X" "153688719" "153688719" "subst" "0.0000464147" "01804" "PLXNA3_000003" "g.153688719C>T" "" "" "" "PLXNA3(NM_017514.3):c.196C>T (p.(His66Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154460379C>T" "" "VUS" "" "0000336238" "0" "30" "X" "153688932" "153688932" "subst" "0.000106981" "01804" "PLXNA3_000004" "g.153688932C>T" "" "" "" "PLXNA3(NM_017514.3):c.409C>T (p.(Arg137Cys)), PLXNA3(NM_017514.4):c.409C>T (p.R137C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154460592C>T" "" "likely benign" "" "0000336239" "0" "50" "X" "153689842" "153689842" "subst" "0.000078522" "01804" "PLXNA3_000006" "g.153689842G>A" "" "" "" "PLXNA3(NM_017514.3):c.998G>A (p.(Arg333Gln)), PLXNA3(NM_017514.4):c.998G>A (p.R333Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154461502G>A" "" "VUS" "" "0000336240" "0" "30" "X" "153690631" "153690631" "subst" "0.00956799" "01804" "PLXNA3_000008" "g.153690631G>A" "" "" "" "PLXNA3(NM_017514.3):c.1298G>A (p.(Arg433His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154462291G>A" "" "likely benign" "" "0000336241" "0" "50" "X" "153691738" "153691738" "subst" "0.0000112339" "01804" "PLXNA3_000009" "g.153691738G>A" "" "" "" "PLXNA3(NM_017514.3):c.1322G>A (p.(Arg441Gln)), PLXNA3(NM_017514.4):c.1322G>A (p.R441Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154463395G>A" "" "VUS" "" "0000336242" "0" "50" "X" "153692374" "153692374" "subst" "0.00283913" "01804" "PLXNA3_000010" "g.153692374G>A" "" "" "" "PLXNA3(NM_017514.3):c.1628G>A (p.(Arg543Gln)), PLXNA3(NM_017514.4):c.1628G>A (p.R543Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154464031G>A" "" "VUS" "" "0000336243" "0" "50" "X" "153693126" "153693126" "subst" "0.00501398" "01804" "PLXNA3_000013" "g.153693126C>T" "" "" "" "PLXNA3(NM_017514.3):c.1958C>T (p.(Pro653Leu)), PLXNA3(NM_017514.4):c.1958C>T (p.P653L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154464783C>T" "" "VUS" "" "0000336246" "0" "50" "X" "153694774" "153694774" "subst" "0.00000562335" "01804" "PLXNA3_000017" "g.153694774G>A" "" "" "" "PLXNA3(NM_017514.3):c.2855G>A (p.(Arg952Gln)), PLXNA3(NM_017514.4):c.2855G>A (p.R952Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154466431G>A" "" "VUS" "" "0000336247" "0" "30" "X" "153694863" "153694863" "subst" "0.000417772" "01804" "PLXNA3_000018" "g.153694863G>A" "" "" "" "PLXNA3(NM_017514.3):c.2936+8G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154466520G>A" "" "likely benign" "" "0000336249" "0" "50" "X" "153695103" "153695103" "subst" "0" "01804" "PLXNA3_000020" "g.153695103T>C" "" "" "" "PLXNA3(NM_017514.3):c.3074T>C (p.(Val1025Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154466760T>C" "" "VUS" "" "0000336250" "0" "50" "X" "153695704" "153695704" "subst" "0" "01804" "PLXNA3_000021" "g.153695704G>T" "" "" "" "PLXNA3(NM_017514.3):c.3331G>T (p.(Ala1111Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154467361G>T" "" "VUS" "" "0000336251" "0" "50" "X" "153696236" "153696236" "subst" "0.000521888" "01804" "PLXNA3_000001" "g.153696236G>A" "" "" "" "PLXNA3(NM_017514.3):c.3712G>A (p.(Val1238Met)), PLXNA3(NM_017514.4):c.3712G>A (p.V1238M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154467893G>A" "" "VUS" "" "0000336253" "0" "50" "X" "153697418" "153697418" "subst" "0.000101183" "01804" "PLXNA3_000022" "g.153697418C>T" "" "" "" "PLXNA3(NM_017514.3):c.4454C>T (p.(Pro1485Leu)), PLXNA3(NM_017514.4):c.4454C>T (p.P1485L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154469075C>T" "" "VUS" "" "0000346368" "0" "50" "X" "153696467" "153696467" "subst" "0" "02327" "PLXNA3_000025" "g.153696467A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154468124A>G" "" "VUS" "" "0000393909" "1" "30" "X" "153690500" "153690500" "subst" "0.000940507" "00124" "PLXNA3_000027" "g.153690500G>A" "2/208 cases" "{PMID:Tarpey 2009:19377476}" "" "L389L" "recurrent, found 2 times" "Germline" "" "" "0" "" "" "g.154462160G>A" "" "likely benign" "" "0000393910" "1" "50" "X" "153690631" "153690631" "subst" "0.00956799" "00124" "PLXNA3_000008" "g.153690631G>A" "3/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "recurrent, found 3 times" "Germline" "" "" "0" "" "" "g.154462291G>A" "" "VUS" "" "0000393911" "1" "30" "X" "153693811" "153693811" "subst" "0.200491" "00124" "PLXNA3_000028" "g.153693811C>T" "10/208 cases" "{PMID:Tarpey 2009:19377476}" "" "F763F" "recurrent, found 10 times" "Germline" "" "" "0" "" "" "g.154465468=" "" "likely benign" "" "0000393912" "1" "50" "X" "153694334" "153694334" "subst" "0.202244" "00124" "PLXNA3_000029" "g.153694334C>G" "9/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "recurrent, found 9 times" "Germline" "" "" "0" "" "" "g.154465991=" "" "VUS" "" "0000393913" "1" "30" "X" "153694820" "153694820" "subst" "0.0113621" "00124" "PLXNA3_000030" "g.153694820A>G" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "T967T" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.154466477A>G" "" "likely benign" "" "0000393914" "1" "30" "X" "153695908" "153695908" "subst" "0.175342" "00124" "PLXNA3_000031" "g.153695908G>T" "2/208 cases" "{PMID:Tarpey 2009:19377476}" "" "A1154A" "recurrent, found 2 times" "Germline" "" "" "0" "" "" "g.154467565=" "" "likely benign" "" "0000393915" "1" "50" "X" "153695966" "153695966" "subst" "0.00000580993" "00124" "PLXNA3_000032" "g.153695966C>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.154467623C>A" "" "VUS" "" "0000393916" "1" "30" "X" "153696247" "153696247" "subst" "0.209349" "00124" "PLXNA3_000033" "g.153696247G>C" "19/208 cases" "{PMID:Tarpey 2009:19377476}" "" "A1241A" "recurrent, found 19 times" "Germline" "" "" "0" "" "" "g.154467904=" "" "likely benign" "" "0000393917" "1" "30" "X" "153696759" "153696759" "subst" "0.00429597" "00124" "PLXNA3_000034" "g.153696759C>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "R1359R" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.154468416C>T" "" "likely benign" "" "0000393918" "1" "30" "X" "153699834" "153699834" "subst" "0.0000403812" "00124" "PLXNA3_000035" "g.153699834T>C" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "Y1791Y" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.154471491T>C" "" "likely benign" "" "0000393919" "1" "30" "X" "153689777" "153689777" "subst" "0.00517395" "00124" "PLXNA3_000026" "g.153689777G>A" "2/208 cases" "{PMID:Tarpey 2009:19377476}" "" "P311P" "recurrent, found 2 times" "Germline" "" "" "0" "" "" "g.154461437G>A" "" "likely benign" "" "0000405975" "21" "30" "X" "153690631" "153690631" "subst" "0.00956799" "02552" "PLXNA3_000008" "g.153690631G>A" "" "{PMID:Papuc 2019:30552426}" "" "" "" "Germline" "" "rs141197316" "0" "" "" "g.154462291G>A" "" "likely benign" "" "0000408062" "20" "90" "X" "153570408" "153861108" "dup" "0" "00006" "FLNA_000307" "g.153570408_153861108dup" "" "{PMID:Hu 2016:25644381}" "" "GDI1" "" "Germline" "" "" "0" "" "" "g.154342193_154632893dup" "" "pathogenic" "" "0000574889" "0" "30" "X" "153688695" "153688695" "subst" "0.000834019" "01943" "PLXNA3_000036" "g.153688695C>T" "" "" "" "PLXNA3(NM_017514.4):c.172C>T (p.P58S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154460355C>T" "" "likely benign" "" "0000574890" "0" "30" "X" "153688775" "153688775" "subst" "0.000534133" "01943" "PLXNA3_000037" "g.153688775C>T" "" "" "" "PLXNA3(NM_017514.4):c.252C>T (p.R84=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154460435C>T" "" "likely benign" "" "0000574891" "0" "30" "X" "153688795" "153688795" "subst" "0.0000119987" "01943" "PLXNA3_000038" "g.153688795C>G" "" "" "" "PLXNA3(NM_017514.4):c.272C>G (p.A91G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154460455C>G" "" "likely benign" "" "0000574892" "0" "30" "X" "153688843" "153688843" "subst" "0.000361633" "01804" "PLXNA3_000039" "g.153688843G>A" "" "" "" "PLXNA3(NM_017514.3):c.320G>A (p.(Arg107His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154460503G>A" "" "likely benign" "" "0000574893" "0" "30" "X" "153688894" "153688894" "subst" "0.000136984" "01943" "PLXNA3_000040" "g.153688894G>A" "" "" "" "PLXNA3(NM_017514.4):c.371G>A (p.R124H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154460554G>A" "" "likely benign" "" "0000574895" "0" "50" "X" "153689578" "153689578" "subst" "0.00000559788" "01943" "PLXNA3_000041" "g.153689578C>T" "" "" "" "PLXNA3(NM_017514.4):c.734C>T (p.T245I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154461238C>T" "" "VUS" "" "0000574896" "0" "30" "X" "153689828" "153689828" "subst" "0" "01943" "PLXNA3_000042" "g.153689828G>A" "" "" "" "PLXNA3(NM_017514.4):c.984G>A (p.R328=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154461488G>A" "" "likely benign" "" "0000574897" "0" "50" "X" "153689841" "153689841" "subst" "0.0000392491" "01943" "PLXNA3_000043" "g.153689841C>T" "" "" "" "PLXNA3(NM_017514.4):c.997C>T (p.R333W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154461501C>T" "" "VUS" "" "0000574898" "0" "30" "X" "153689842" "153689842" "subst" "0.000078522" "01943" "PLXNA3_000006" "g.153689842G>A" "" "" "" "PLXNA3(NM_017514.3):c.998G>A (p.(Arg333Gln)), PLXNA3(NM_017514.4):c.998G>A (p.R333Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154461502G>A" "" "likely benign" "" "0000574899" "0" "30" "X" "153689883" "153689883" "subst" "0" "01943" "PLXNA3_000044" "g.153689883G>A" "" "" "" "PLXNA3(NM_017514.4):c.1039G>A (p.A347T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154461543G>A" "" "likely benign" "" "0000574900" "0" "30" "X" "153690567" "153690567" "subst" "0.000159832" "01943" "PLXNA3_000045" "g.153690567G>A" "" "" "" "PLXNA3(NM_017514.4):c.1234G>A (p.D412N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154462227G>A" "" "likely benign" "" "0000574901" "0" "10" "X" "153690570" "153690570" "subst" "0.000914794" "01943" "PLXNA3_000046" "g.153690570G>A" "" "" "" "PLXNA3(NM_017514.4):c.1237G>A (p.G413S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154462230G>A" "" "benign" "" "0000574902" "0" "10" "X" "153690588" "153690588" "subst" "0.00106956" "01943" "PLXNA3_000047" "g.153690588G>A" "" "" "" "PLXNA3(NM_017514.4):c.1255G>A (p.A419T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154462248G>A" "" "benign" "" "0000574903" "0" "30" "X" "153690601" "153690601" "subst" "0.000456147" "01943" "PLXNA3_000048" "g.153690601G>A" "" "" "" "PLXNA3(NM_017514.4):c.1268G>A (p.R423H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154462261G>A" "" "likely benign" "" "0000574904" "0" "30" "X" "153691954" "153691954" "subst" "0.0000510308" "01804" "PLXNA3_000049" "g.153691954A>T" "" "" "" "PLXNA3(NM_017514.3):c.1468A>T (p.(Thr490Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154463611A>T" "" "likely benign" "" "0000574906" "0" "30" "X" "153691996" "153691996" "subst" "0.00204693" "01804" "PLXNA3_000050" "g.153691996G>A" "" "" "" "PLXNA3(NM_017514.3):c.1510G>A (p.(Gly504Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154463653G>A" "" "likely benign" "" "0000574907" "0" "50" "X" "153692303" "153692303" "subst" "0.0000265329" "01943" "PLXNA3_000051" "g.153692303C>A" "" "" "" "PLXNA3(NM_017514.4):c.1557C>A (p.R519=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154463960C>A" "" "VUS" "" "0000574908" "0" "30" "X" "153692385" "153692385" "subst" "0.00017283" "01943" "PLXNA3_000052" "g.153692385A>G" "" "" "" "PLXNA3(NM_017514.4):c.1639A>G (p.N547D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154464042A>G" "" "likely benign" "" "0000574909" "0" "30" "X" "153692842" "153692842" "subst" "0.00000565048" "01943" "PLXNA3_000053" "g.153692842G>C" "" "" "" "PLXNA3(NM_017514.4):c.1926G>C (p.Q642H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154464499G>C" "" "likely benign" "" "0000574910" "0" "10" "X" "153693126" "153693126" "subst" "0.00501398" "01943" "PLXNA3_000013" "g.153693126C>T" "" "" "" "PLXNA3(NM_017514.3):c.1958C>T (p.(Pro653Leu)), PLXNA3(NM_017514.4):c.1958C>T (p.P653L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154464783C>T" "" "benign" "" "0000574911" "0" "50" "X" "153693164" "153693164" "subst" "0.0000773069" "01943" "PLXNA3_000054" "g.153693164C>T" "" "" "" "PLXNA3(NM_017514.4):c.1996C>T (p.R666C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154464821C>T" "" "VUS" "" "0000574912" "0" "50" "X" "153693487" "153693487" "subst" "0" "01943" "PLXNA3_000055" "g.153693487C>T" "" "" "" "PLXNA3(NM_017514.4):c.2170C>T (p.R724W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154465144C>T" "" "VUS" "" "0000574913" "0" "30" "X" "153694565" "153694565" "subst" "0.0000113572" "01943" "PLXNA3_000056" "g.153694565C>T" "" "" "" "PLXNA3(NM_017514.4):c.2751C>T (p.D917=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154466222C>T" "" "likely benign" "" "0000574914" "0" "30" "X" "153694726" "153694726" "subst" "0.0000112292" "01943" "PLXNA3_000057" "g.153694726C>T" "" "" "" "PLXNA3(NM_017514.4):c.2807C>T (p.T936M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154466383C>T" "" "likely benign" "" "0000574915" "0" "30" "X" "153694774" "153694774" "subst" "0.00000562335" "01943" "PLXNA3_000017" "g.153694774G>A" "" "" "" "PLXNA3(NM_017514.3):c.2855G>A (p.(Arg952Gln)), PLXNA3(NM_017514.4):c.2855G>A (p.R952Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154466431G>A" "" "likely benign" "" "0000574916" "0" "30" "X" "153695720" "153695720" "subst" "0.0000116508" "01943" "PLXNA3_000058" "g.153695720G>T" "" "" "" "PLXNA3(NM_017514.4):c.3347G>T (p.R1116L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154467377G>T" "" "likely benign" "" "0000574917" "0" "50" "X" "153695996" "153695996" "subst" "0" "01943" "PLXNA3_000059" "g.153695996G>C" "" "" "" "PLXNA3(NM_017514.4):c.3550G>C (p.D1184H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154467653G>C" "" "VUS" "" "0000574919" "0" "30" "X" "153696683" "153696683" "subst" "0.00235202" "01804" "PLXNA3_000061" "g.153696683G>A" "" "" "" "PLXNA3(NM_017514.3):c.4001G>A (p.(Gly1334Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154468340G>A" "" "likely benign" "" "0000574920" "0" "50" "X" "153698910" "153698920" "del" "0" "01943" "PLXNA3_000062" "g.153698910_153698920del" "" "" "" "PLXNA3(NM_017514.4):c.5112_5122delCCAGATCAGCG (p.Q1705Pfs*147)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154470567_154470577del" "" "VUS" "" "0000574921" "0" "50" "X" "153699838" "153699838" "subst" "0" "02327" "PLXNA3_000063" "g.153699838C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154471495C>T" "" "VUS" "" "0000574922" "0" "30" "X" "153700982" "153700982" "subst" "0.000156752" "01943" "LAGE3_000004" "g.153700982G>A" "" "" "" "PLXNA3(NM_017514.4):c.5570G>A (p.R1857Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154472639G>A" "" "likely benign" "" "0000619328" "0" "30" "X" "153688661" "153688661" "subst" "0.000352065" "01943" "PLXNA3_000065" "g.153688661C>T" "" "" "" "PLXNA3(NM_017514.4):c.138C>T (p.F46=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154460321C>T" "" "likely benign" "" "0000619329" "0" "50" "X" "153688725" "153688725" "subst" "0.0000175152" "02325" "PLXNA3_000066" "g.153688725A>G" "" "" "" "PLXNA3(NM_017514.5):c.202A>G (p.T68A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154460385A>G" "" "VUS" "" "0000619330" "0" "30" "X" "153689777" "153689777" "subst" "0.00517395" "01943" "PLXNA3_000026" "g.153689777G>A" "" "" "" "PLXNA3(NM_017514.4):c.933G>A (p.P311=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154461437G>A" "" "likely benign" "" "0000619331" "0" "30" "X" "153690471" "153690471" "subst" "0.0000125203" "01943" "PLXNA3_000070" "g.153690471A>G" "" "" "" "PLXNA3(NM_017514.4):c.1138A>G (p.M380V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154462131A>G" "" "likely benign" "" "0000619332" "0" "30" "X" "153690629" "153690629" "subst" "0.000676407" "01943" "PLXNA3_000071" "g.153690629G>A" "" "" "" "PLXNA3(NM_017514.4):c.1296G>A (p.T432=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154462289G>A" "" "likely benign" "" "0000619333" "0" "30" "X" "153692402" "153692402" "subst" "0.0000858762" "01943" "PLXNA3_000072" "g.153692402G>A" "" "" "" "PLXNA3(NM_017514.4):c.1656G>A (p.T552=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154464059G>A" "" "likely benign" "" "0000619335" "0" "50" "X" "153695924" "153695924" "subst" "0" "02325" "PLXNA3_000075" "g.153695924C>T" "" "" "" "PLXNA3(NM_017514.5):c.3478C>T (p.R1160C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154467581C>T" "" "VUS" "" "0000619336" "0" "30" "X" "153696765" "153696765" "subst" "0.000670055" "01943" "PLXNA3_000077" "g.153696765C>T" "" "" "" "PLXNA3(NM_017514.4):c.4083C>T (p.R1361=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154468422C>T" "" "likely benign" "" "0000619337" "0" "30" "X" "153696855" "153696855" "subst" "0.000106865" "01943" "PLXNA3_000079" "g.153696855C>T" "" "" "" "PLXNA3(NM_017514.4):c.4173C>T (p.I1391=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154468512C>T" "" "likely benign" "" "0000619338" "0" "50" "X" "153697745" "153697745" "subst" "0.0000168686" "01943" "PLXNA3_000080" "g.153697745C>T" "" "" "" "PLXNA3(NM_017514.4):c.4618C>T (p.R1540C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154469402C>T" "" "VUS" "" "0000624520" "0" "30" "X" "153688579" "153688579" "subst" "0.000210697" "01943" "PLXNA3_000064" "g.153688579G>A" "" "" "" "PLXNA3(NM_017514.4):c.56G>A (p.G19D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154460239G>A" "" "likely benign" "" "0000624521" "0" "30" "X" "153688733" "153688733" "subst" "0.0000885159" "01943" "PLXNA3_000067" "g.153688733C>T" "" "" "" "PLXNA3(NM_017514.4):c.210C>T (p.P70=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154460393C>T" "" "likely benign" "" "0000624522" "0" "30" "X" "153688745" "153688745" "subst" "0.000401645" "01943" "PLXNA3_000068" "g.153688745C>T" "" "" "" "PLXNA3(NM_017514.4):c.222C>T (p.N74=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154460405C>T" "" "likely benign" "" "0000624523" "0" "50" "X" "153689680" "153689680" "subst" "0" "01943" "PLXNA3_000069" "g.153689680C>G" "" "" "" "PLXNA3(NM_017514.4):c.836C>G (p.P279R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154461340C>G" "" "VUS" "" "0000624524" "0" "30" "X" "153694535" "153694535" "subst" "0.000618949" "01943" "PLXNA3_000073" "g.153694535G>C" "" "" "" "PLXNA3(NM_017514.4):c.2721G>C (p.P907=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154466192G>C" "" "likely benign" "" "0000624525" "0" "30" "X" "153696702" "153696702" "subst" "0.0000793327" "01943" "PLXNA3_000076" "g.153696702C>T" "" "" "" "PLXNA3(NM_017514.4):c.4020C>T (p.R1340=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154468359C>T" "" "likely benign" "" "0000624526" "0" "30" "X" "153696771" "153696771" "subst" "0.000283641" "01943" "PLXNA3_000078" "g.153696771C>T" "" "" "" "PLXNA3(NM_017514.4):c.4089C>T (p.T1363=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154468428C>T" "" "likely benign" "" "0000659214" "0" "30" "X" "153689802" "153689802" "subst" "0.000712423" "01943" "PLXNA3_000082" "g.153689802A>G" "" "" "" "PLXNA3(NM_017514.4):c.958A>G (p.I320V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154461462A>G" "" "likely benign" "" "0000659215" "0" "30" "X" "153690500" "153690500" "subst" "0.000940507" "01943" "PLXNA3_000027" "g.153690500G>A" "" "" "" "PLXNA3(NM_017514.4):c.1167G>A (p.L389=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154462160G>A" "" "likely benign" "" "0000682280" "0" "30" "X" "153688562" "153688562" "subst" "0.000131941" "01943" "PLXNA3_000083" "g.153688562C>T" "" "" "" "PLXNA3(NM_017514.4):c.39C>T (p.A13=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682281" "0" "30" "X" "153688736" "153688736" "subst" "0.000272672" "01943" "PLXNA3_000084" "g.153688736C>T" "" "" "" "PLXNA3(NM_017514.4):c.213C>T (p.V71=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682282" "0" "30" "X" "153692523" "153692523" "subst" "0.000199575" "01943" "PLXNA3_000085" "g.153692523G>A" "" "" "" "PLXNA3(NM_017514.4):c.1695G>A (p.V565=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682283" "0" "30" "X" "153692580" "153692580" "subst" "0.0000651177" "01943" "PLXNA3_000086" "g.153692580G>A" "" "" "" "PLXNA3(NM_017514.4):c.1752G>A (p.A584=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682284" "0" "30" "X" "153693488" "153693488" "subst" "0.000231402" "01943" "PLXNA3_000087" "g.153693488G>A" "" "" "" "PLXNA3(NM_017514.4):c.2171G>A (p.R724Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682285" "0" "30" "X" "153696235" "153696235" "subst" "0.0000283673" "01943" "PLXNA3_000088" "g.153696235C>T" "" "" "" "PLXNA3(NM_017514.4):c.3711C>T (p.A1237=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682286" "0" "50" "X" "153698834" "153698834" "subst" "0.000011222" "01943" "PLXNA3_000089" "g.153698834C>T" "" "" "" "PLXNA3(NM_017514.4):c.5036C>T (p.T1679I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693476" "0" "30" "X" "153688859" "153688859" "subst" "0.000115005" "01943" "PLXNA3_000090" "g.153688859C>T" "" "" "" "PLXNA3(NM_017514.4):c.336C>T (p.C112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693477" "0" "50" "X" "153689826" "153689826" "subst" "0.0000224281" "01943" "PLXNA3_000091" "g.153689826C>T" "" "" "" "PLXNA3(NM_017514.4):c.982C>T (p.R328W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693478" "0" "50" "X" "153695449" "153695449" "subst" "0.00000565052" "01943" "PLXNA3_000092" "g.153695449G>A" "" "" "" "PLXNA3(NM_017514.4):c.3157G>A (p.E1053K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693479" "0" "50" "X" "153696439" "153696439" "subst" "0" "01943" "PLXNA3_000093" "g.153696439C>T" "" "" "" "PLXNA3(NM_017514.4):c.3835C>T (p.Q1279*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693480" "0" "30" "X" "153697246" "153697246" "subst" "0.000526154" "01943" "PLXNA3_000094" "g.153697246G>A" "" "" "" "PLXNA3(NM_017514.4):c.4368G>A (p.T1456=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693481" "0" "50" "X" "153697418" "153697418" "subst" "0.000101183" "01943" "PLXNA3_000022" "g.153697418C>T" "" "" "" "PLXNA3(NM_017514.3):c.4454C>T (p.(Pro1485Leu)), PLXNA3(NM_017514.4):c.4454C>T (p.P1485L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693482" "0" "30" "X" "153698919" "153698919" "subst" "0.00165176" "01943" "PLXNA3_000081" "g.153698919C>T" "" "" "" "PLXNA3(NM_017514.4):c.5121C>T (p.S1707=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728667" "0" "30" "X" "153688967" "153688967" "subst" "0.000263654" "01943" "PLXNA3_000095" "g.153688967C>T" "" "" "" "PLXNA3(NM_017514.4):c.444C>T (p.P148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728668" "0" "30" "X" "153689564" "153689564" "subst" "0.000184732" "01943" "PLXNA3_000096" "g.153689564G>A" "" "" "" "PLXNA3(NM_017514.4):c.720G>A (p.T240=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728669" "0" "30" "X" "153691778" "153691778" "subst" "0" "01943" "PLXNA3_000097" "g.153691778C>G" "" "" "" "PLXNA3(NM_017514.4):c.1362C>G (p.V454=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728670" "0" "30" "X" "153691998" "153691998" "subst" "0" "01943" "PLXNA3_000098" "g.153691998G>C" "" "" "" "PLXNA3(NM_017514.4):c.1512G>C (p.G504=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728671" "0" "30" "X" "153692374" "153692374" "subst" "0.00283913" "01943" "PLXNA3_000010" "g.153692374G>A" "" "" "" "PLXNA3(NM_017514.3):c.1628G>A (p.(Arg543Gln)), PLXNA3(NM_017514.4):c.1628G>A (p.R543Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728672" "0" "50" "X" "153692557" "153692557" "subst" "0.0000354593" "01943" "PLXNA3_000099" "g.153692557G>A" "" "" "" "PLXNA3(NM_017514.4):c.1729G>A (p.E577K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728673" "0" "30" "X" "153693170" "153693170" "subst" "0" "01943" "PLXNA3_000100" "g.153693170C>G" "" "" "" "PLXNA3(NM_017514.4):c.2002C>G (p.H668D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728674" "0" "50" "X" "153694021" "153694021" "subst" "0.00000565697" "02329" "PLXNA3_000016" "g.153694021C>T" "" "" "" "PLXNA3(NM_017514.4):c.2363C>T (p.A788V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728675" "0" "30" "X" "153694727" "153694727" "subst" "0.0000673923" "01943" "PLXNA3_000101" "g.153694727G>A" "" "" "" "PLXNA3(NM_017514.4):c.2808G>A (p.T936=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728676" "0" "30" "X" "153695759" "153695759" "subst" "0.0000118159" "01943" "PLXNA3_000102" "g.153695759C>T" "" "" "" "PLXNA3(NM_017514.4):c.3386C>T (p.P1129L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728677" "0" "30" "X" "153695778" "153695778" "subst" "0.000986032" "01943" "PLXNA3_000103" "g.153695778G>A" "" "" "" "PLXNA3(NM_017514.4):c.3405G>A (p.V1135=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728678" "0" "50" "X" "153695996" "153695996" "subst" "0" "02327" "PLXNA3_000059" "g.153695996G>C" "" "" "" "PLXNA3(NM_017514.4):c.3550G>C (p.D1184H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728679" "0" "30" "X" "153696514" "153696514" "subst" "0.000134263" "01943" "PLXNA3_000104" "g.153696514G>A" "" "" "" "PLXNA3(NM_017514.4):c.3910G>A (p.V1304M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728680" "0" "30" "X" "153697804" "153697804" "subst" "0" "01943" "PLXNA3_000105" "g.153697804C>T" "" "" "" "PLXNA3(NM_017514.4):c.4677C>T (p.L1559=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728681" "0" "50" "X" "153699486" "153699486" "subst" "0" "02329" "PLXNA3_000024" "g.153699486C>T" "" "" "" "PLXNA3(NM_017514.4):c.5195C>T (p.P1732L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000735363" "21" "70" "X" "153688719" "153688719" "subst" "0.0000464147" "00000" "PLXNA3_000003" "g.153688719C>T" "" "{PMID:Jin 2017:28373534}" "" "" "" "Germline" "" "" "0" "" "" "g.154460379C>T" "" "likely pathogenic" "" "0000810151" "0" "30" "X" "153688838" "153688838" "subst" "0.0000860561" "01943" "PLXNA3_000106" "g.153688838G>A" "" "" "" "PLXNA3(NM_017514.4):c.315G>A (p.A105=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810152" "0" "30" "X" "153689036" "153689036" "subst" "0.000317055" "01943" "PLXNA3_000107" "g.153689036C>T" "" "" "" "PLXNA3(NM_017514.4):c.513C>T (p.V171=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810153" "0" "50" "X" "153689517" "153689517" "subst" "0.0000336157" "01943" "PLXNA3_000108" "g.153689517T>C" "" "" "" "PLXNA3(NM_017514.4):c.673T>C (p.Y225H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810154" "0" "50" "X" "153689713" "153689713" "subst" "0.000146039" "01943" "PLXNA3_000109" "g.153689713G>A" "" "" "" "PLXNA3(NM_017514.4):c.869G>A (p.R290H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810155" "0" "30" "X" "153692046" "153692046" "del" "0" "01943" "PLXNA3_000110" "g.153692046del" "" "" "" "PLXNA3(NM_017514.4):c.1547+9delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810156" "0" "50" "X" "153692373" "153692373" "subst" "0" "01943" "PLXNA3_000111" "g.153692373C>T" "" "" "" "PLXNA3(NM_017514.4):c.1627C>T (p.R543W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810157" "0" "50" "X" "153693509" "153693509" "subst" "0.0000170176" "01943" "PLXNA3_000112" "g.153693509G>A" "" "" "" "PLXNA3(NM_017514.4):c.2192G>A (p.R731Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810158" "0" "30" "X" "153694127" "153694127" "subst" "0.000835403" "01943" "PLXNA3_000113" "g.153694127G>A" "" "" "" "PLXNA3(NM_017514.4):c.2469G>A (p.P823=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810159" "0" "30" "X" "153694819" "153694819" "subst" "0" "01943" "PLXNA3_000114" "g.153694819C>G" "" "" "" "PLXNA3(NM_017514.4):c.2900C>G (p.T967R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810160" "0" "30" "X" "153695652" "153695652" "subst" "0.0000400121" "01943" "PLXNA3_000115" "g.153695652G>A" "" "" "" "PLXNA3(NM_017514.4):c.3279G>A (p.A1093=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810161" "0" "30" "X" "153695682" "153695682" "subst" "0.00025899" "01943" "PLXNA3_000116" "g.153695682C>T" "" "" "" "PLXNA3(NM_017514.4):c.3309C>T (p.F1103=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810162" "0" "30" "X" "153697521" "153697521" "subst" "0.000213502" "01943" "PLXNA3_000117" "g.153697521G>A" "" "" "" "PLXNA3(NM_017514.4):c.4557G>A (p.P1519=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856458" "0" "30" "X" "153688594" "153688594" "subst" "0.000738137" "01943" "PLXNA3_000118" "g.153688594G>A" "" "" "" "PLXNA3(NM_017514.4):c.71G>A (p.R24H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856459" "0" "50" "X" "153688932" "153688932" "subst" "0.000106981" "01943" "PLXNA3_000004" "g.153688932C>T" "" "" "" "PLXNA3(NM_017514.3):c.409C>T (p.(Arg137Cys)), PLXNA3(NM_017514.4):c.409C>T (p.R137C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856460" "0" "30" "X" "153689669" "153689669" "subst" "0.000201606" "01943" "PLXNA3_000120" "g.153689669C>T" "" "" "" "PLXNA3(NM_017514.4):c.825C>T (p.Y275=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856461" "0" "30" "X" "153690617" "153690617" "subst" "0.0000539371" "01943" "PLXNA3_000123" "g.153690617C>T" "" "" "" "PLXNA3(NM_017514.4):c.1284C>T (p.V428=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856462" "0" "50" "X" "153690647" "153690647" "subst" "0.000192698" "01943" "PLXNA3_000124" "g.153690647G>C" "" "" "" "PLXNA3(NM_017514.4):c.1314G>C (p.K438N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856463" "0" "30" "X" "153691947" "153691947" "subst" "0.000157819" "01943" "PLXNA3_000125" "g.153691947G>A" "" "" "" "PLXNA3(NM_017514.4):c.1461G>A (p.P487=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856464" "0" "50" "X" "153692663" "153692663" "subst" "0" "01943" "PLXNA3_000127" "g.153692663G>A" "" "" "" "PLXNA3(NM_017514.4):c.1828+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856465" "0" "30" "X" "153694106" "153694106" "subst" "0.000317343" "01943" "PLXNA3_000128" "g.153694106G>A" "" "" "" "PLXNA3(NM_017514.4):c.2448G>A (p.L816=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856466" "0" "30" "X" "153696729" "153696729" "subst" "0.0000227119" "01943" "PLXNA3_000131" "g.153696729G>A" "" "" "" "PLXNA3(NM_017514.4):c.4047G>A (p.T1349=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856467" "0" "30" "X" "153699574" "153699574" "subst" "0" "01943" "PLXNA3_000132" "g.153699574A>T" "" "" "" "PLXNA3(NM_017514.4):c.5283A>T (p.T1761=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867215" "0" "30" "X" "153688601" "153688601" "subst" "0.000357349" "01943" "PLXNA3_000119" "g.153688601C>T" "" "" "" "PLXNA3(NM_017514.4):c.78C>T (p.F26=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867216" "0" "30" "X" "153689942" "153689942" "subst" "0.000244308" "01943" "PLXNA3_000121" "g.153689942C>T" "" "" "" "PLXNA3(NM_017514.4):c.1098C>T (p.P366=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867217" "0" "30" "X" "153690587" "153690587" "subst" "0.000152193" "01943" "PLXNA3_000122" "g.153690587C>T" "" "" "" "PLXNA3(NM_017514.4):c.1254C>T (p.A418=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867218" "0" "30" "X" "153692595" "153692595" "subst" "0.0000589116" "01943" "PLXNA3_000126" "g.153692595C>T" "" "" "" "PLXNA3(NM_017514.4):c.1767C>T (p.S589=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867219" "0" "30" "X" "153694365" "153694365" "subst" "0.0000510083" "01943" "PLXNA3_000129" "g.153694365C>T" "" "" "" "PLXNA3(NM_017514.4):c.2620C>T (p.L874=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867220" "0" "30" "X" "153695703" "153695703" "subst" "0.0000173675" "01943" "PLXNA3_000130" "g.153695703G>A" "" "" "" "PLXNA3(NM_017514.4):c.3330G>A (p.T1110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 PLXNA3 ## Count = 145 "{{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}}" "0000079618" "00016391" "00" "-120955" "0" "1027017" "0" "c.-120955_*1021401dup" "" "" "" "0000170290" "00016391" "50" "3712" "0" "3712" "0" "c.3712G>A" "r.(?)" "p.(Val1238Met)" "" "0000254379" "00016391" "30" "1773" "0" "1773" "0" "c.1773A>T" "r.(?)" "p.(Glu591Asp)" "" "0000256670" "00016391" "50" "1259" "0" "1259" "0" "c.1259A>G" "r.(?)" "p.(Tyr420Cys)" "" "0000305949" "00016391" "50" "1322" "0" "1322" "0" "c.1322G>A" "r.(?)" "p.(Arg441Gln)" "" "0000305950" "00016391" "30" "1918" "0" "1918" "0" "c.1918G>A" "r.(?)" "p.(Val640Ile)" "" "0000305951" "00016391" "30" "3712" "0" "3712" "0" "c.3712G>A" "r.(?)" "p.(Val1238Met)" "" "0000305952" "00016391" "50" "5122" "0" "5122" "0" "c.5122G>A" "r.(?)" "p.(Asp1708Asn)" "" "0000305953" "00016391" "30" "685" "0" "685" "0" "c.685G>A" "r.(?)" "p.(Gly229Ser)" "" "0000305954" "00016391" "30" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Val27Met)" "" "0000336237" "00016391" "50" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(His66Tyr)" "" "0000336238" "00016391" "30" "409" "0" "409" "0" "c.409C>T" "r.(?)" "p.(Arg137Cys)" "" "0000336239" "00016391" "50" "998" "0" "998" "0" "c.998G>A" "r.(?)" "p.(Arg333Gln)" "" "0000336240" "00016391" "30" "1298" "0" "1298" "0" "c.1298G>A" "r.(?)" "p.(Arg433His)" "" "0000336241" "00016391" "50" "1322" "0" "1322" "0" "c.1322G>A" "r.(?)" "p.(Arg441Gln)" "" "0000336242" "00016391" "50" "1628" "0" "1628" "0" "c.1628G>A" "r.(?)" "p.(Arg543Gln)" "" "0000336243" "00016391" "50" "1958" "0" "1958" "0" "c.1958C>T" "r.(?)" "p.(Pro653Leu)" "" "0000336246" "00016391" "50" "2855" "0" "2855" "0" "c.2855G>A" "r.(?)" "p.(Arg952Gln)" "" "0000336247" "00016391" "30" "2936" "8" "2936" "8" "c.2936+8G>A" "r.(=)" "p.(=)" "" "0000336249" "00016391" "50" "3074" "0" "3074" "0" "c.3074T>C" "r.(?)" "p.(Val1025Ala)" "" "0000336250" "00016391" "50" "3331" "0" "3331" "0" "c.3331G>T" "r.(?)" "p.(Ala1111Ser)" "" "0000336251" "00016391" "50" "3712" "0" "3712" "0" "c.3712G>A" "r.(?)" "p.(Val1238Met)" "" "0000336253" "00016391" "50" "4454" "0" "4454" "0" "c.4454C>T" "r.(?)" "p.(Pro1485Leu)" "" "0000346368" "00016391" "50" "3863" "0" "3863" "0" "c.3863A>G" "r.(?)" "p.(His1288Arg)" "" "0000393909" "00016391" "30" "1167" "0" "1167" "0" "c.1167G>A" "r.(=)" "p.(=)" "" "0000393910" "00016391" "50" "1298" "0" "1298" "0" "c.1298G>A" "r.(?)" "p.(Arg433His)" "" "0000393911" "00016391" "30" "2289" "0" "2289" "0" "c.2289C>T" "r.(=)" "p.(=)" "" "0000393912" "00016391" "50" "2589" "0" "2589" "0" "c.2589C>G" "r.(?)" "p.(Asp863Glu)" "" "0000393913" "00016391" "30" "2901" "0" "2901" "0" "c.2901A>G" "r.(=)" "p.(=)" "" "0000393914" "00016391" "30" "3462" "0" "3462" "0" "c.3462G>T" "r.(=)" "p.(=)" "" "0000393915" "00016391" "50" "3520" "0" "3520" "0" "c.3520C>A" "r.(?)" "p.(Leu1174Ile)" "" "0000393916" "00016391" "30" "3723" "0" "3723" "0" "c.3723G>C" "r.(=)" "p.(=)" "" "0000393917" "00016391" "30" "4077" "0" "4077" "0" "c.4077C>T" "r.(=)" "p.(=)" "" "0000393918" "00016391" "30" "5373" "0" "5373" "0" "c.5373T>C" "r.(=)" "p.(=)" "" "0000393919" "00016391" "30" "933" "0" "933" "0" "c.933G>A" "r.(=)" "p.(=)" "" "0000405975" "00016391" "30" "1298" "0" "1298" "0" "c.1298G>A" "r.(?)" "p.(Arg433His)" "" "0000408062" "00016391" "00" "-116388" "0" "165696" "0" "c.-116388_*160080dup" "r.0?" "p.0?" "" "0000574889" "00016391" "30" "172" "0" "172" "0" "c.172C>T" "r.(?)" "p.(Pro58Ser)" "" "0000574890" "00016391" "30" "252" "0" "252" "0" "c.252C>T" "r.(?)" "p.(Arg84=)" "" "0000574891" "00016391" "30" "272" "0" "272" "0" "c.272C>G" "r.(?)" "p.(Ala91Gly)" "" "0000574892" "00016391" "30" "320" "0" "320" "0" "c.320G>A" "r.(?)" "p.(Arg107His)" "" "0000574893" "00016391" "30" "371" "0" "371" "0" "c.371G>A" "r.(?)" "p.(Arg124His)" "" "0000574895" "00016391" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Ile)" "" "0000574896" "00016391" "30" "984" "0" "984" "0" "c.984G>A" "r.(?)" "p.(Arg328=)" "" "0000574897" "00016391" "50" "997" "0" "997" "0" "c.997C>T" "r.(?)" "p.(Arg333Trp)" "" "0000574898" "00016391" "30" "998" "0" "998" "0" "c.998G>A" "r.(?)" "p.(Arg333Gln)" "" "0000574899" "00016391" "30" "1039" "0" "1039" "0" "c.1039G>A" "r.(?)" "p.(Ala347Thr)" "" "0000574900" "00016391" "30" "1234" "0" "1234" "0" "c.1234G>A" "r.(?)" "p.(Asp412Asn)" "" "0000574901" "00016391" "10" "1237" "0" "1237" "0" "c.1237G>A" "r.(?)" "p.(Gly413Ser)" "" "0000574902" "00016391" "10" "1255" "0" "1255" "0" "c.1255G>A" "r.(?)" "p.(Ala419Thr)" "" "0000574903" "00016391" "30" "1268" "0" "1268" "0" "c.1268G>A" "r.(?)" "p.(Arg423His)" "" "0000574904" "00016391" "30" "1468" "0" "1468" "0" "c.1468A>T" "r.(?)" "p.(Thr490Ser)" "" "0000574906" "00016391" "30" "1510" "0" "1510" "0" "c.1510G>A" "r.(?)" "p.(Gly504Arg)" "" "0000574907" "00016391" "50" "1557" "0" "1557" "0" "c.1557C>A" "r.(?)" "p.(Arg519=)" "" "0000574908" "00016391" "30" "1639" "0" "1639" "0" "c.1639A>G" "r.(?)" "p.(Asn547Asp)" "" "0000574909" "00016391" "30" "1926" "0" "1926" "0" "c.1926G>C" "r.(?)" "p.(Gln642His)" "" "0000574910" "00016391" "10" "1958" "0" "1958" "0" "c.1958C>T" "r.(?)" "p.(Pro653Leu)" "" "0000574911" "00016391" "50" "1996" "0" "1996" "0" "c.1996C>T" "r.(?)" "p.(Arg666Cys)" "" "0000574912" "00016391" "50" "2170" "0" "2170" "0" "c.2170C>T" "r.(?)" "p.(Arg724Trp)" "" "0000574913" "00016391" "30" "2751" "0" "2751" "0" "c.2751C>T" "r.(?)" "p.(Asp917=)" "" "0000574914" "00016391" "30" "2807" "0" "2807" "0" "c.2807C>T" "r.(?)" "p.(Thr936Met)" "" "0000574915" "00016391" "30" "2855" "0" "2855" "0" "c.2855G>A" "r.(?)" "p.(Arg952Gln)" "" "0000574916" "00016391" "30" "3347" "0" "3347" "0" "c.3347G>T" "r.(?)" "p.(Arg1116Leu)" "" "0000574917" "00016391" "50" "3550" "0" "3550" "0" "c.3550G>C" "r.(?)" "p.(Asp1184His)" "" "0000574919" "00016391" "30" "4001" "0" "4001" "0" "c.4001G>A" "r.(?)" "p.(Gly1334Glu)" "" "0000574920" "00016391" "50" "5112" "0" "5122" "0" "c.5112_5122del" "r.(?)" "p.(Gln1705ProfsTer147)" "" "0000574921" "00016391" "50" "5377" "0" "5377" "0" "c.5377C>T" "r.(?)" "p.(Arg1793Ter)" "" "0000574922" "00016391" "30" "5570" "0" "5570" "0" "c.5570G>A" "r.(?)" "p.(Arg1857Gln)" "" "0000619328" "00016391" "30" "138" "0" "138" "0" "c.138C>T" "r.(?)" "p.(Phe46=)" "" "0000619329" "00016391" "50" "202" "0" "202" "0" "c.202A>G" "r.(?)" "p.(Thr68Ala)" "" "0000619330" "00016391" "30" "933" "0" "933" "0" "c.933G>A" "r.(?)" "p.(Pro311=)" "" "0000619331" "00016391" "30" "1138" "0" "1138" "0" "c.1138A>G" "r.(?)" "p.(Met380Val)" "" "0000619332" "00016391" "30" "1296" "0" "1296" "0" "c.1296G>A" "r.(?)" "p.(Thr432=)" "" "0000619333" "00016391" "30" "1656" "0" "1656" "0" "c.1656G>A" "r.(?)" "p.(Thr552=)" "" "0000619335" "00016391" "50" "3478" "0" "3478" "0" "c.3478C>T" "r.(?)" "p.(Arg1160Cys)" "" "0000619336" "00016391" "30" "4083" "0" "4083" "0" "c.4083C>T" "r.(?)" "p.(Arg1361=)" "" "0000619337" "00016391" "30" "4173" "0" "4173" "0" "c.4173C>T" "r.(?)" "p.(Ile1391=)" "" "0000619338" "00016391" "50" "4618" "0" "4618" "0" "c.4618C>T" "r.(?)" "p.(Arg1540Cys)" "" "0000624520" "00016391" "30" "56" "0" "56" "0" "c.56G>A" "r.(?)" "p.(Gly19Asp)" "" "0000624521" "00016391" "30" "210" "0" "210" "0" "c.210C>T" "r.(?)" "p.(Pro70=)" "" "0000624522" "00016391" "30" "222" "0" "222" "0" "c.222C>T" "r.(?)" "p.(Asn74=)" "" "0000624523" "00016391" "50" "836" "0" "836" "0" "c.836C>G" "r.(?)" "p.(Pro279Arg)" "" "0000624524" "00016391" "30" "2721" "0" "2721" "0" "c.2721G>C" "r.(?)" "p.(Pro907=)" "" "0000624525" "00016391" "30" "4020" "0" "4020" "0" "c.4020C>T" "r.(?)" "p.(Arg1340=)" "" "0000624526" "00016391" "30" "4089" "0" "4089" "0" "c.4089C>T" "r.(?)" "p.(Thr1363=)" "" "0000659214" "00016391" "30" "958" "0" "958" "0" "c.958A>G" "r.(?)" "p.(Ile320Val)" "" "0000659215" "00016391" "30" "1167" "0" "1167" "0" "c.1167G>A" "r.(?)" "p.(Leu389=)" "" "0000682280" "00016391" "30" "39" "0" "39" "0" "c.39C>T" "r.(?)" "p.(Ala13=)" "" "0000682281" "00016391" "30" "213" "0" "213" "0" "c.213C>T" "r.(?)" "p.(Val71=)" "" "0000682282" "00016391" "30" "1695" "0" "1695" "0" "c.1695G>A" "r.(?)" "p.(Val565=)" "" "0000682283" "00016391" "30" "1752" "0" "1752" "0" "c.1752G>A" "r.(?)" "p.(Ala584=)" "" "0000682284" "00016391" "30" "2171" "0" "2171" "0" "c.2171G>A" "r.(?)" "p.(Arg724Gln)" "" "0000682285" "00016391" "30" "3711" "0" "3711" "0" "c.3711C>T" "r.(?)" "p.(Ala1237=)" "" "0000682286" "00016391" "50" "5036" "0" "5036" "0" "c.5036C>T" "r.(?)" "p.(Thr1679Ile)" "" "0000693476" "00016391" "30" "336" "0" "336" "0" "c.336C>T" "r.(?)" "p.(Cys112=)" "" "0000693477" "00016391" "50" "982" "0" "982" "0" "c.982C>T" "r.(?)" "p.(Arg328Trp)" "" "0000693478" "00016391" "50" "3157" "0" "3157" "0" "c.3157G>A" "r.(?)" "p.(Glu1053Lys)" "" "0000693479" "00016391" "50" "3835" "0" "3835" "0" "c.3835C>T" "r.(?)" "p.(Gln1279Ter)" "" "0000693480" "00016391" "30" "4368" "0" "4368" "0" "c.4368G>A" "r.(?)" "p.(Thr1456=)" "" "0000693481" "00016391" "50" "4454" "0" "4454" "0" "c.4454C>T" "r.(?)" "p.(Pro1485Leu)" "" "0000693482" "00016391" "30" "5121" "0" "5121" "0" "c.5121C>T" "r.(?)" "p.(Ser1707=)" "" "0000728667" "00016391" "30" "444" "0" "444" "0" "c.444C>T" "r.(?)" "p.(Pro148=)" "" "0000728668" "00016391" "30" "720" "0" "720" "0" "c.720G>A" "r.(?)" "p.(Thr240=)" "" "0000728669" "00016391" "30" "1362" "0" "1362" "0" "c.1362C>G" "r.(?)" "p.(Val454=)" "" "0000728670" "00016391" "30" "1512" "0" "1512" "0" "c.1512G>C" "r.(?)" "p.(Gly504=)" "" "0000728671" "00016391" "30" "1628" "0" "1628" "0" "c.1628G>A" "r.(?)" "p.(Arg543Gln)" "" "0000728672" "00016391" "50" "1729" "0" "1729" "0" "c.1729G>A" "r.(?)" "p.(Glu577Lys)" "" "0000728673" "00016391" "30" "2002" "0" "2002" "0" "c.2002C>G" "r.(?)" "p.(His668Asp)" "" "0000728674" "00016391" "50" "2363" "0" "2363" "0" "c.2363C>T" "r.(?)" "p.(Ala788Val)" "" "0000728675" "00016391" "30" "2808" "0" "2808" "0" "c.2808G>A" "r.(?)" "p.(Thr936=)" "" "0000728676" "00016391" "30" "3386" "0" "3386" "0" "c.3386C>T" "r.(?)" "p.(Pro1129Leu)" "" "0000728677" "00016391" "30" "3405" "0" "3405" "0" "c.3405G>A" "r.(?)" "p.(Val1135=)" "" "0000728678" "00016391" "50" "3550" "0" "3550" "0" "c.3550G>C" "r.(?)" "p.(Asp1184His)" "" "0000728679" "00016391" "30" "3910" "0" "3910" "0" "c.3910G>A" "r.(?)" "p.(Val1304Met)" "" "0000728680" "00016391" "30" "4677" "0" "4677" "0" "c.4677C>T" "r.(?)" "p.(Leu1559=)" "" "0000728681" "00016391" "50" "5195" "0" "5195" "0" "c.5195C>T" "r.(?)" "p.(Pro1732Leu)" "" "0000735363" "00016391" "70" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(His66Tyr)" "" "0000810151" "00016391" "30" "315" "0" "315" "0" "c.315G>A" "r.(?)" "p.(Ala105=)" "" "0000810152" "00016391" "30" "513" "0" "513" "0" "c.513C>T" "r.(?)" "p.(Val171=)" "" "0000810153" "00016391" "50" "673" "0" "673" "0" "c.673T>C" "r.(?)" "p.(Tyr225His)" "" "0000810154" "00016391" "50" "869" "0" "869" "0" "c.869G>A" "r.(?)" "p.(Arg290His)" "" "0000810155" "00016391" "30" "1547" "13" "1547" "13" "c.1547+13del" "r.(=)" "p.(=)" "" "0000810156" "00016391" "50" "1627" "0" "1627" "0" "c.1627C>T" "r.(?)" "p.(Arg543Trp)" "" "0000810157" "00016391" "50" "2192" "0" "2192" "0" "c.2192G>A" "r.(?)" "p.(Arg731Gln)" "" "0000810158" "00016391" "30" "2469" "0" "2469" "0" "c.2469G>A" "r.(?)" "p.(Pro823=)" "" "0000810159" "00016391" "30" "2900" "0" "2900" "0" "c.2900C>G" "r.(?)" "p.(Thr967Arg)" "" "0000810160" "00016391" "30" "3279" "0" "3279" "0" "c.3279G>A" "r.(?)" "p.(Ala1093=)" "" "0000810161" "00016391" "30" "3309" "0" "3309" "0" "c.3309C>T" "r.(?)" "p.(Phe1103=)" "" "0000810162" "00016391" "30" "4557" "0" "4557" "0" "c.4557G>A" "r.(?)" "p.(Pro1519=)" "" "0000856458" "00016391" "30" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24His)" "" "0000856459" "00016391" "50" "409" "0" "409" "0" "c.409C>T" "r.(?)" "p.(Arg137Cys)" "" "0000856460" "00016391" "30" "825" "0" "825" "0" "c.825C>T" "r.(?)" "p.(Tyr275=)" "" "0000856461" "00016391" "30" "1284" "0" "1284" "0" "c.1284C>T" "r.(?)" "p.(Val428=)" "" "0000856462" "00016391" "50" "1314" "0" "1314" "0" "c.1314G>C" "r.(?)" "p.(Lys438Asn)" "" "0000856463" "00016391" "30" "1461" "0" "1461" "0" "c.1461G>A" "r.(?)" "p.(Pro487=)" "" "0000856464" "00016391" "50" "1828" "7" "1828" "7" "c.1828+7G>A" "r.(=)" "p.(=)" "" "0000856465" "00016391" "30" "2448" "0" "2448" "0" "c.2448G>A" "r.(?)" "p.(Leu816=)" "" "0000856466" "00016391" "30" "4047" "0" "4047" "0" "c.4047G>A" "r.(?)" "p.(Thr1349=)" "" "0000856467" "00016391" "30" "5283" "0" "5283" "0" "c.5283A>T" "r.(?)" "p.(Thr1761=)" "" "0000867215" "00016391" "30" "78" "0" "78" "0" "c.78C>T" "r.(?)" "p.(Phe26=)" "" "0000867216" "00016391" "30" "1098" "0" "1098" "0" "c.1098C>T" "r.(?)" "p.(Pro366=)" "" "0000867217" "00016391" "30" "1254" "0" "1254" "0" "c.1254C>T" "r.(?)" "p.(Ala418=)" "" "0000867218" "00016391" "30" "1767" "0" "1767" "0" "c.1767C>T" "r.(?)" "p.(Ser589=)" "" "0000867219" "00016391" "30" "2620" "0" "2620" "0" "c.2620C>T" "r.(?)" "p.(Leu874=)" "" "0000867220" "00016391" "30" "3330" "0" "3330" "0" "c.3330G>A" "r.(?)" "p.(Thr1110=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{variantid}}" "0000050638" "0000079618" "0000105038" "0000170290" "0000173670" "0000393909" "0000173671" "0000393910" "0000173672" "0000393911" "0000173673" "0000393912" "0000173674" "0000393913" "0000173675" "0000393914" "0000173676" "0000393915" "0000173677" "0000393916" "0000173678" "0000393917" "0000173679" "0000393918" "0000173680" "0000393919" "0000182142" "0000405975" "0000184093" "0000408062" "0000336199" "0000735363"