### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SRPK3) # 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}}" "SRPK3" "SRSF protein kinase 3" "X" "q28" "unknown" "NC_000023.10" "UD_132118317487" "" "https://www.LOVD.nl/SRPK3" "" "1" "11402" "26576" "301002" "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." "" "" "" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2024-11-23 17:31:32" "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}}" "00000457" "SRPK3" "transcript variant 1" "001" "NM_014370.3" "" "NP_055185.2" "" "" "" "-86" "1916" "1704" "153046456" "153051187" "00000" "2012-09-13 12:18:33" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02840" "CMYO4B" "myopathy, congenital, type 4B" "AR" "609284" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-02-07 14:48:13" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "07133" "XLID114" "intellectual developmental disorder, X-linked, type 114" "" "301134" "" "" "" "00006" "2024-11-23 17:33:06" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SRPK3" "07133" ## 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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00173505" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00183137" "" "" "" "2" "" "00006" "{PMID:Hu 2016:25644381}" "family, 2 affected, 1 unaffected heterozygous carrier female" "M" "" "" "" "0" "" "" "" "25644381-FamAU29" "00419928" "" "" "" "1" "" "04393" "{PMID:Pelin 2023:37393515}" "" "M" "no" "Finland" "<05y" "0" "" "" "" "" "00447962" "" "" "" "4" "" "00006" "{PMID:Chia 2018:29784083}" "2-generation family, 2 affected, unaffectedheteroczugous carrier parents/sibs" "M" "yes" "Jordan" "" "0" "" "" "" "FamPatII1" "00447963" "" "" "00447962" "1" "" "00006" "{PMID:Chia 2018:29784083}" "affected sister" "F" "yes" "Jordan" "" "0" "" "" "" "FamPatII4" "00457973" "" "" "" "5" "" "00006" "{PMID:Roychaudhury 2024:39073169}" "3-generation family, 5 affected (5M), 5 unaffected carrier females" "M" "" "Canada" "" "0" "" "" "" "Fam1PatII1" "00457974" "" "" "00457973" "1" "" "00006" "{PMID:Roychaudhury 2024:39073169}" "nephew" "M" "" "Canada" "" "0" "" "" "" "Fam1PatIII3" "00457975" "" "" "00457973" "1" "" "00006" "{PMID:Roychaudhury 2024:39073169}" "nephew" "M" "" "Canada" "" "0" "" "" "" "Fam1PatIII4" "00457976" "" "" "00457973" "1" "" "00006" "{PMID:Roychaudhury 2024:39073169}" "nephew" "M" "" "Canada" "" "0" "" "" "" "Fam1PatIII5" "00457977" "" "" "00457973" "1" "" "00006" "{PMID:Roychaudhury 2024:39073169}" "nephew" "M" "" "Canada" "" "0" "" "" "" "Fam1PatIII7" "00457978" "" "" "" "1" "" "00006" "{PMID:Roychaudhury 2024:39073169}" "3-generation family, 1 affected, unaffected carrier mother" "M" "" "United States" "" "0" "" "" "" "Fam2" "00457979" "" "" "" "2" "" "00006" "{PMID:Roychaudhury 2024:39073169}" "3-generation family, 2 affected (boy, maternal uncle), unaffected carrier mother" "M" "" "United States" "" "0" "" "" "" "Fam3PatIII1" "00457980" "" "" "" "1" "" "00006" "{PMID:Roychaudhury 2024:39073169}" "patient" "M" "" "Italy" "" "0" "" "" "" "Fam4" "00457981" "" "" "" "1" "" "00006" "{PMID:Roychaudhury 2024:39073169}" "patient" "M" "" "Guatemala" "<1m" "0" "" "" "Hispanic" "Fam5" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 16 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00173505" "00187" "00183137" "00187" "00419928" "02840" "00447962" "05611" "00447963" "05611" "00457973" "00139" "00457974" "00139" "00457975" "00139" "00457976" "00139" "00457977" "00139" "00457978" "00139" "00457979" "00139" "00457980" "00139" "00457981" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 01157, 02840, 05611, 07133 ## 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/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" "" "0000138369" "00187" "00173505" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000143891" "00187" "00183137" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "0000311197" "02840" "00419928" "04393" "Familial, autosomal recessive" "00y" "Failure to thrive (HP:0001508); high, narrow palate (HP:0002705); poor head control (HP:0002421); generalized hypotonia (HP0001290); respiratory insufficiency due to muscle weakness (HP:0002747); type 1 muscle fiber atrophy (HP:0011807); type 1 fibers relatively smaller than type 2 fibers (HP:0003755); nemaline bodies (HP:0003798); central nuclei (HP:0003687)." "" "" "" "" "" "" "" "" "NEM1" "NEM" "0000337152" "05611" "00447962" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth at term, weight 3.2kg, length 50cm, OFC 35cm; 11y-growth failure, height 149cm (<5th), weight 30kg (<5th), OFC 54.5cm; severe developmental dealy; never walked; no speech; seizures; convulsions; EEG abnormal; hypotonia, spastic; MRI brain 11y-normal; no behavioural anomalies" "" "" "" "" "" "" "" "" "MRT63" "intellectual disability" "0000337153" "05611" "00447963" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth at term, weight 3.1kg, length 49cm, OFC 34cm; 4y-growth failure, height 108cm (15th), weight 16kg (5th), OFC 47.5cm; severe developmental dealy; never walked; no speech; seizures; convulsions; EEG abnormal; hypotonia, spastic; MRI brain 4y-normal; no behavioural anomalies" "" "" "" "" "" "" "" "" "MRT63" "intellectual disability" "0000346423" "00139" "00457973" "00006" "Familial, X-linked" "69y" "see paper; ..., global developmental delay; severe intellectual disability; prominent forehead, macrocephaly; no vision impairment, no hearing impairment; verbal; contractures of digits; MRI brain enlargement lateral ventricles and 3rd/4th ventricles, partial absence corpus callosum" "" "" "" "" "" "" "" "" "XLID114" "intellectual disability" "0000346424" "00139" "00457974" "00006" "Familial, X-linked" "35y" "see paper; ..., global developmental delay; moderate intellectual disability (IQ 60-70); delayed language skills; no dysmorphic features; verbal; delayed motor development; MRI brain irregular and asymmetrically dilated lateral ventricles, white matter loss, partial agenesis corpus callosum, colpocephaly" "" "" "" "" "" "" "" "" "XLID114" "intellectual disability" "0000346425" "00139" "00457975" "00006" "Familial, X-linked" "27y" "see paper; ..., global developmental delay; moderate intellectual disability (IQ 60-70); delayed language skills; no dysmorphic features; poor attention span; no vision impairment, no hearing impairment; verbal; delayed motor development; MRI brain irregular and asymmetrically dilated lateral ventricles, white matter loss, agenesis corpus callosum, colpocephaly" "" "" "" "" "" "" "" "" "XLID114" "intellectual disability" "0000346426" "00139" "00457976" "00006" "Familial, X-linked" "35y" "see paper; ..., global developmental delay; moderate intellectual disability (IQ 60-70); delayed language skills; no dysmorphic features; poor attention span, emotional instability; no vision impairment, no hearing impairment; delayed speech; delayed motor development;" "" "" "" "" "" "" "" "" "XLID114" "intellectual disability" "0000346427" "00139" "00457977" "00006" "Familial, X-linked" "32y" "see paper; ..., global developmental delay; moderate intellectual disability (IQ 60-70); delayed language skills; no dysmorphic features; poor balance and postural reaction with poor integration of vestibular stimulation; verbal; delayed motor development; MRI brain irregular and asymmetrically dilated lateral ventricles, white matter loss, partial agenesis corpus callosum" "" "" "" "" "" "" "" "" "XLID114" "intellectual disability" "0000346428" "00139" "00457978" "00006" "Familial, X-linked" "28y" "learning problems, borderline intellectual disability (IQ low normal); no dysmorphic features; ataxia, vertigo; lazy eye at birth, strabismus, hyperacute; no hearing impairment; speech disturbance; CT PET slightly decreased cerebellar uptake" "" "" "" "" "" "" "" "" "XLID114" "intellectual disability" "0000346429" "00139" "00457979" "00006" "Familial, X-linked" "15y" "see paper; ..., global developmental delay; learning difficulties (IQ unknown); no dysmorphic features; ataxia, proximal muscle weakness; abnormal smooth pursuit in eye movement; no hearing impairment; mild muscle weakness; MRI brain loss of volume within posterior body corpus callosum" "" "" "" "" "" "" "" "" "XLID114" "intellectual disability" "0000346430" "00139" "00457980" "00006" "Familial, X-linked" "5y" "see paper; ..., global developmental delay; severe intellectual disability; no dysmorphic features; hypotonia, dystonic/dyskinetic limb movements, absence trunk control; no psychiatric feature; no vision impairment, no hearing impairment; no speech; delayed motor development; MRI brain 8m/2y-normal" "" "" "" "" "" "" "" "" "XLID114" "intellectual disability" "0000346431" "00139" "00457981" "00006" "Familial, X-linked" "<1m" "see paper; ..., died several weeks after birth; no dysmorphic features; congenital inner ear anomalies; no vision impairment; MRI brain absent bilateral mid and posterior cerebral hemispheres, cerebellar hypoplasia, enlarged cisterna magna, dilated left lateral ventricle related to obstructive hydrocephalus, polymicrogyria" "" "" "" "" "" "" "" "" "XLID114" "intellectual disability" ## 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}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000174388" "00173505" "1" "00124" "00006" "2009-04-08 14:04:23" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000184095" "00183137" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome" "0000421233" "00419928" "1" "04393" "04393" "2022-10-26 10:47:04" "" "" "arrayCGH;RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000449535" "00447962" "1" "00006" "00006" "2024-02-05 12:59:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449536" "00447963" "1" "00006" "00006" "2024-02-05 12:59:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459593" "00457973" "1" "00006" "00006" "2024-11-23 20:27:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459594" "00457974" "1" "00006" "00006" "2024-11-23 20:27:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459595" "00457975" "1" "00006" "00006" "2024-11-23 20:27:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459596" "00457976" "1" "00006" "00006" "2024-11-23 20:27:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459597" "00457977" "1" "00006" "00006" "2024-11-23 20:27:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459598" "00457978" "1" "00006" "00006" "2024-11-23 20:27:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459599" "00457979" "1" "00006" "00006" "2024-11-23 20:27:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459600" "00457980" "1" "00006" "00006" "2024-11-23 20:27:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459601" "00457981" "1" "00006" "00006" "2024-11-23 20:27:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000174388" "PPEF1" "0000184095" "MECP2" "0000421233" "CSDA" "0000421233" "OBSL1" "0000421233" "RYR1" "0000421233" "SRPK3" "0000421233" "TPM3" ## 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 = 61 "{{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}}" "0000003324" "20" "50" "X" "153048647" "153048647" "del" "0" "00037" "SRPK3_000008" "g.153048647del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153783192del" "" "VUS" "" "0000008037" "20" "50" "X" "153047809" "153047809" "subst" "0" "00037" "SRPK3_000001" "g.153047809A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153782354A>G" "" "VUS" "" "0000010203" "20" "50" "X" "153047809" "153047809" "subst" "0" "00037" "SRPK3_000001" "g.153047809A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153782354A>G" "" "VUS" "" "0000010204" "0" "50" "X" "153048648" "153048649" "del" "0" "00037" "SRPK3_000007" "g.153048648_153048649del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153783193_153783194del" "" "VUS" "" "0000010205" "0" "50" "X" "153048648" "153048648" "del" "0.388593" "00037" "SRPK3_000006" "g.153048648del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153783193del" "" "VUS" "" "0000011310" "20" "50" "X" "153048647" "153048647" "del" "0" "00037" "SRPK3_000008" "g.153048647del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153783192del" "" "VUS" "" "0000255975" "0" "50" "X" "153044113" "153044113" "subst" "0" "01943" "PLXNB3_000069" "g.153044113A>G" "" "" "" "PLXNB3(NM_001163257.1):c.5678A>G (p.H1893R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153778658A>G" "" "VUS" "" "0000289345" "0" "50" "X" "153052559" "153052559" "subst" "1.12075E-5" "01943" "IDH3G_000003" "g.153052559G>A" "" "" "" "IDH3G(NM_174869.2):c.724C>T (p.R242C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153787104G>A" "" "VUS" "" "0000305961" "0" "50" "X" "153043500" "153043500" "subst" "0" "01943" "PLXNB3_000067" "g.153043500G>A" "" "" "" "PLXNB3(NM_001163257.1):c.5428G>A (p.A1810T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153778045G>A" "" "VUS" "" "0000305962" "0" "50" "X" "153043531" "153043531" "subst" "2.80063E-5" "01943" "PLXNB3_000068" "g.153043531C>T" "" "" "" "PLXNB3(NM_001163257.1):c.5459C>T (p.S1820L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153778076C>T" "" "VUS" "" "0000305963" "0" "50" "X" "153044471" "153044471" "subst" "0" "01943" "PLXNB3_000070" "g.153044471G>A" "" "" "" "PLXNB3(NM_001163257.1):c.5776G>A (p.E1926K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153779016G>A" "" "VUS" "" "0000315741" "0" "50" "X" "153050856" "153050856" "subst" "0.000106838" "01943" "SRPK3_000011" "g.153050856G>A" "" "" "" "SRPK3(NM_014370.3):c.1585G>A (p.E529K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153785401G>A" "" "VUS" "" "0000315742" "0" "50" "X" "153047663" "153047663" "subst" "0" "01943" "SRPK3_000010" "g.153047663C>T" "" "" "" "SRPK3(NM_014370.3):c.475C>T (p.H159Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153782208C>T" "" "VUS" "" "0000336073" "0" "50" "X" "153042338" "153042338" "subst" "0.000183428" "01804" "PLXNB3_000063" "g.153042338C>T" "" "" "" "PLXNB3(NM_001163257.1):c.4903-4C>T (p.?), PLXNB3(NM_005393.3):c.4834-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153776883C>T" "" "VUS" "" "0000336074" "0" "30" "X" "153042686" "153042686" "subst" "0.000909656" "01804" "PLXNB3_000064" "g.153042686G>A" "" "" "" "PLXNB3(NM_005393.3):c.4951G>A (p.(Glu1651Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153777231G>A" "" "likely benign" "" "0000336075" "0" "50" "X" "153042698" "153042698" "dup" "0" "01804" "PLXNB3_000065" "g.153042698dup" "" "" "" "PLXNB3(NM_001163257.1):c.5024_5025insG (p.(Val1678GlyfsTer76))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153777243dup" "" "VUS" "" "0000336077" "0" "30" "X" "153047239" "153047239" "subst" "0.00150301" "01804" "SRPK3_000009" "g.153047239G>A" "" "" "" "SRPK3(NM_001170760.1):c.341G>A (p.(Gly114Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153781784G>A" "" "likely benign" "" "0000336078" "0" "50" "X" "153051413" "153051413" "subst" "2.24347E-5" "01804" "IDH3G_000001" "g.153051413T>C" "" "" "" "IDH3G(NM_004135.3):c.1096A>G (p.(Ile366Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153785958T>C" "" "VUS" "" "0000336079" "0" "50" "X" "153052407" "153052407" "subst" "0.0012232" "01804" "IDH3G_000002" "g.153052407G>A" "" "" "" "IDH3G(NM_004135.3):c.778-5C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153786952G>A" "" "VUS" "" "0000342889" "0" "50" "X" "153050245" "153050245" "subst" "0" "02327" "SRPK3_000012" "g.153050245G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153784790G>A" "" "VUS" "" "0000401300" "1" "50" "X" "153047239" "153047239" "subst" "0.00150301" "00124" "SRPK3_000009" "g.153047239G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "G114E" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.153781784G>A" "" "VUS" "" "0000408064" "21" "90" "X" "152710806" "153609906" "dup" "0" "00006" "MECP2_002820" "g.152710806_153609906dup" "" "{PMID:Hu 2016:25644381}" "" "MECP2" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000574366" "0" "30" "X" "153043867" "153043867" "subst" "0.000409539" "01804" "SRPK3_000013" "g.153043867C>T" "" "" "" "PLXNB3(NM_005393.3):c.5491C>T (p.(Arg1831Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153778412C>T" "" "likely benign" "" "0000574368" "0" "50" "X" "153047285" "153047285" "subst" "1.12775E-5" "01943" "SRPK3_000015" "g.153047285T>G" "" "" "" "SRPK3(NM_014370.3):c.387T>G (p.C129W, p.(Cys129Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153781830T>G" "" "VUS" "" "0000574370" "0" "50" "X" "153051392" "153051392" "subst" "0" "01943" "SRPK3_000017" "g.153051392A>G" "" "" "" "IDH3G(NM_004135.4):c.1117T>C (p.S373P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153785937A>G" "" "VUS" "" "0000574372" "0" "50" "X" "153053358" "153053358" "subst" "5.59591E-6" "01943" "SRPK3_000019" "g.153053358C>T" "" "" "" "IDH3G(NM_174869.2):c.460G>A (p.V154M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153787903C>T" "" "VUS" "" "0000574373" "0" "30" "X" "153055671" "153055671" "subst" "0" "01804" "SRPK3_000020" "g.153055671A>C" "" "" "" "IDH3G(NM_004135.3):c.212T>G (p.(Leu71Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153790216A>C" "" "likely benign" "" "0000619183" "0" "50" "X" "153047073" "153047073" "subst" "0" "02327" "SRPK3_000021" "g.153047073G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153781618G>C" "" "VUS" "" "0000624490" "0" "50" "X" "153047248" "153047248" "subst" "1.12187E-5" "01943" "SRPK3_000022" "g.153047248C>T" "" "" "" "SRPK3(NM_014370.3):c.350C>T (p.T117M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153781793C>T" "" "VUS" "" "0000659157" "0" "50" "X" "153042434" "153042434" "subst" "4.99283E-5" "01943" "SRPK3_000023" "g.153042434G>C" "" "" "" "PLXNB3(NM_001163257.1):c.4995G>C (p.E1665D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153776979G>C" "" "VUS" "" "0000682216" "0" "50" "X" "153043007" "153043007" "subst" "0" "01943" "SRPK3_000025" "g.153043007G>A" "" "" "" "PLXNB3(NM_001163257.1):c.5194G>A (p.D1732N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000682217" "0" "30" "X" "153046761" "153046761" "subst" "4.11985E-5" "01943" "SRPK3_000026" "g.153046761C>T" "" "" "" "SRPK3(NM_014370.3):c.150C>T (p.S50=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682218" "0" "50" "X" "153046972" "153046972" "subst" "0" "01943" "SRPK3_000027" "g.153046972C>T" "" "" "" "SRPK3(NM_014370.3):c.203C>T (p.P68L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000682219" "0" "30" "X" "153051703" "153051703" "subst" "1.16511E-5" "01943" "SRPK3_000028" "g.153051703G>A" "" "" "" "IDH3G(NM_174869.2):c.1044C>T (p.I348=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728574" "0" "30" "X" "153052277" "153052277" "subst" "4.51309E-5" "01943" "SRPK3_000029" "g.153052277A>G" "" "" "" "IDH3G(NM_174869.2):c.903T>C (p.H301=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810064" "0" "50" "X" "153043450" "153043450" "subst" "2.81307E-5" "01943" "SRPK3_000030" "g.153043450T>A" "" "" "" "PLXNB3(NM_001163257.1):c.5378T>A (p.I1793N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810065" "0" "50" "X" "153049344" "153049344" "subst" "0" "02327" "SRPK3_000031" "g.153049344G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810066" "0" "50" "X" "153050568" "153050568" "subst" "0" "01943" "SRPK3_000032" "g.153050568G>A" "" "" "" "SRPK3(NM_014370.3):c.1459G>A (p.D487N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810067" "0" "30" "X" "153052343" "153052343" "subst" "6.72043E-5" "01943" "SRPK3_000033" "g.153052343G>A" "" "" "" "IDH3G(NM_174869.2):c.837C>T (p.I279=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856422" "0" "30" "X" "153050888" "153050888" "subst" "0.000331397" "01943" "SRPK3_000034" "g.153050888C>T" "" "" "" "SRPK3(NM_014370.3):c.1617C>T (p.S539=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867175" "0" "50" "X" "153051877" "153051877" "subst" "0" "01804" "SRPK3_000035" "g.153051877C>T" "" "" "" "IDH3G(NM_004135.3):c.952G>A (p.(Ala318Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000881860" "21" "50" "X" "153050434" "153050434" "subst" "0" "04393" "SRPK3_000036" "g.153050434G>T" "" "{PMID:Pelin 2023:37393515}" "" "" "" "Germline" "?" "" "0" "" "" "g.153784979G>T" "" "VUS" "" "0000951702" "0" "30" "X" "153042338" "153042338" "subst" "0.000183428" "02325" "PLXNB3_000063" "g.153042338C>T" "" "" "" "PLXNB3(NM_001163257.1):c.4903-4C>T (p.?), PLXNB3(NM_005393.3):c.4834-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000959907" "3" "50" "X" "153050159" "153050163" "del" "0" "00006" "SRPK3_000038" "g.153050159_153050163del" "" "{PMID:Chia 2018:29784083}" "" "SRPK3 1_5delGACAG (Thr2LeufsTer57)" "" "Germline" "" "" "0" "" "" "g.153784704_153784708del" "" "likely benign" "" "0000959980" "3" "50" "X" "153050159" "153050163" "del" "0" "00006" "SRPK3_000038" "g.153050159_153050163del" "" "{PMID:Chia 2018:29784083}" "" "SRPK3 1_5delGACAG (Thr2LeufsTer57)" "" "Germline" "" "" "0" "" "" "g.153784704_153784708del" "" "likely benign" "" "0000984535" "0" "30" "X" "153041561" "153041561" "subst" "0" "01804" "SRPK3_000039" "g.153041561C>T" "" "" "" "PLXNB3(NM_005393.3):c.4621C>T (p.(Arg1541Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000989438" "0" "70" "X" "153047049" "153047049" "subst" "0" "03779" "SRPK3_000040" "g.153047049T>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000989440" "0" "50" "X" "153047049" "153047049" "subst" "0" "03779" "SRPK3_000040" "g.153047049T>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0001006530" "0" "50" "X" "153047285" "153047285" "subst" "1.12775E-5" "01804" "SRPK3_000015" "g.153047285T>G" "" "" "" "SRPK3(NM_014370.3):c.387T>G (p.C129W, p.(Cys129Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006531" "0" "30" "X" "153049576" "153049576" "subst" "0" "01804" "SRPK3_000041" "g.153049576G>C" "" "" "" "SRPK3(NM_014370.3):c.1055G>C (p.(Gly352Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006532" "0" "30" "X" "153050543" "153050543" "subst" "0" "01804" "SRPK3_000042" "g.153050543C>G" "" "" "" "SRPK3(NM_014370.3):c.1434C>G (p.(Ile478Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006533" "0" "50" "X" "153051838" "153051838" "subst" "0" "01804" "SRPK3_000043" "g.153051838C>T" "" "" "" "IDH3G(NM_004135.3):c.991G>A (p.(Ala331Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001017664" "21" "90" "X" "153047663" "153047663" "subst" "0" "00006" "SRPK3_000044" "g.153047663C>G" "" "{PMID:Roychaudhury 2024:39073169}" "" "" "" "Germline" "yes" "" "0" "" "" "g.153782208C>G" "" "pathogenic" "" "0001017665" "21" "90" "X" "153047663" "153047663" "subst" "0" "00006" "SRPK3_000044" "g.153047663C>G" "" "{PMID:Roychaudhury 2024:39073169}" "" "" "" "Germline" "yes" "" "0" "" "" "g.153782208C>G" "" "pathogenic" "" "0001017666" "21" "90" "X" "153047663" "153047663" "subst" "0" "00006" "SRPK3_000044" "g.153047663C>G" "" "{PMID:Roychaudhury 2024:39073169}" "" "" "" "Germline" "yes" "" "0" "" "" "g.153782208C>G" "" "pathogenic" "" "0001017667" "21" "90" "X" "153047663" "153047663" "subst" "0" "00006" "SRPK3_000044" "g.153047663C>G" "" "{PMID:Roychaudhury 2024:39073169}" "" "" "" "Germline" "yes" "" "0" "" "" "g.153782208C>G" "" "pathogenic" "" "0001017668" "21" "90" "X" "153047663" "153047663" "subst" "0" "00006" "SRPK3_000044" "g.153047663C>G" "" "{PMID:Roychaudhury 2024:39073169}" "" "" "" "Germline" "yes" "" "0" "" "" "g.153782208C>G" "" "pathogenic" "" "0001017669" "21" "90" "X" "153050405" "153050405" "subst" "0" "00006" "SRPK3_000046" "g.153050405C>A" "" "{PMID:Roychaudhury 2024:39073169}" "" "" "" "Germline" "" "" "0" "" "" "g.153784950C>A" "" "pathogenic" "" "0001017670" "21" "90" "X" "153050856" "153050856" "subst" "0.000106838" "00006" "SRPK3_000011" "g.153050856G>A" "" "{PMID:Roychaudhury 2024:39073169}" "" "" "" "Germline" "" "" "0" "" "" "g.153785401G>A" "" "pathogenic" "" "0001017671" "21" "90" "X" "153049474" "153049474" "subst" "0" "00006" "SRPK3_000045" "g.153049474C>T" "" "{PMID:Roychaudhury 2024:39073169}" "" "" "" "Germline" "" "" "0" "" "" "g.153784019C>T" "" "pathogenic" "" "0001017672" "21" "90" "X" "153050445" "153050446" "del" "0" "00006" "SRPK3_000047" "g.153050445_153050446del" "" "{PMID:Roychaudhury 2024:39073169}" "" "" "" "Germline" "" "" "0" "" "" "g.153784990_153784991del" "" "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 SRPK3 ## Count = 61 "{{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}}" "0000003324" "00000457" "50" "749" "-34" "749" "-34" "c.749-34del" "r.(=)" "p.(=)" "" "0000008037" "00000457" "50" "475" "146" "475" "146" "c.475+146A>G" "r.(=)" "p.(=)" "" "0000010203" "00000457" "50" "475" "146" "475" "146" "c.475+146A>G" "r.(=)" "p.(=)" "" "0000010204" "00000457" "50" "749" "-33" "749" "-32" "c.749-33_749-32del" "r.(=)" "p.(=)" "" "0000010205" "00000457" "50" "749" "-33" "749" "-33" "c.749-33del" "r.(=)" "p.(=)" "" "0000011310" "00000457" "50" "749" "-34" "749" "-34" "c.749-34del" "r.(=)" "p.(=)" "" "0000255975" "00000457" "50" "-2429" "0" "-2429" "0" "c.-2429A>G" "r.(?)" "p.(=)" "" "0000289345" "00000457" "50" "3288" "0" "3288" "0" "c.*1584G>A" "r.(=)" "p.(=)" "" "0000305961" "00000457" "50" "-3042" "0" "-3042" "0" "c.-3042G>A" "r.(?)" "p.(=)" "" "0000305962" "00000457" "50" "-3011" "0" "-3011" "0" "c.-3011C>T" "r.(?)" "p.(=)" "" "0000305963" "00000457" "50" "-2071" "0" "-2071" "0" "c.-2071G>A" "r.(?)" "p.(=)" "" "0000315741" "00000457" "50" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Glu529Lys)" "" "0000315742" "00000457" "50" "475" "0" "475" "0" "c.475C>T" "r.(?)" "p.(His159Tyr)" "" "0000336073" "00000457" "50" "-4204" "0" "-4204" "0" "c.-4204C>T" "r.(?)" "p.(=)" "" "0000336074" "00000457" "30" "-3856" "0" "-3856" "0" "c.-3856G>A" "r.(?)" "p.(=)" "" "0000336075" "00000457" "50" "-3844" "0" "-3844" "0" "c.-3844dup" "r.(?)" "p.(=)" "" "0000336077" "00000457" "30" "341" "0" "341" "0" "c.341G>A" "r.(?)" "p.(Gly114Glu)" "" "0000336078" "00000457" "50" "2142" "0" "2142" "0" "c.*438T>C" "r.(=)" "p.(=)" "" "0000336079" "00000457" "50" "3136" "0" "3136" "0" "c.*1432G>A" "r.(=)" "p.(=)" "" "0000342889" "00000457" "50" "1289" "0" "1289" "0" "c.1289G>A" "r.(?)" "p.(Arg430Gln)" "" "0000401300" "00000457" "50" "341" "0" "341" "0" "c.341G>A" "r.(?)" "p.(Gly114Glu)" "4" "0000408064" "00000457" "00" "-335736" "0" "560635" "0" "c.-335736_*558931dup" "r.0?" "p.0?" "" "0000574366" "00000457" "30" "-2675" "0" "-2675" "0" "c.-2675C>T" "r.(?)" "p.(=)" "" "0000574368" "00000457" "50" "387" "0" "387" "0" "c.387T>G" "r.(?)" "p.(Cys129Trp)" "" "0000574370" "00000457" "50" "2121" "0" "2121" "0" "c.*417A>G" "r.(=)" "p.(=)" "" "0000574372" "00000457" "50" "4087" "0" "4087" "0" "c.*2383C>T" "r.(=)" "p.(=)" "" "0000574373" "00000457" "30" "6400" "0" "6400" "0" "c.*4696A>C" "r.(=)" "p.(=)" "" "0000619183" "00000457" "50" "299" "5" "299" "5" "c.299+5G>C" "r.spl?" "p.?" "" "0000624490" "00000457" "50" "350" "0" "350" "0" "c.350C>T" "r.(?)" "p.(Thr117Met)" "" "0000659157" "00000457" "50" "-4108" "0" "-4108" "0" "c.-4108G>C" "r.(?)" "p.(=)" "" "0000682216" "00000457" "50" "-3535" "0" "-3535" "0" "c.-3535G>A" "r.(?)" "p.(=)" "" "0000682217" "00000457" "30" "150" "0" "150" "0" "c.150C>T" "r.(?)" "p.(Ser50=)" "" "0000682218" "00000457" "50" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Pro68Leu)" "" "0000682219" "00000457" "30" "2432" "0" "2432" "0" "c.*728G>A" "r.(=)" "p.(=)" "" "0000728574" "00000457" "30" "3006" "0" "3006" "0" "c.*1302A>G" "r.(=)" "p.(=)" "" "0000810064" "00000457" "50" "-3092" "0" "-3092" "0" "c.-3092T>A" "r.(?)" "p.(=)" "" "0000810065" "00000457" "50" "907" "5" "907" "5" "c.907+5G>C" "r.spl?" "p.?" "" "0000810066" "00000457" "50" "1459" "0" "1459" "0" "c.1459G>A" "r.(?)" "p.(Asp487Asn)" "" "0000810067" "00000457" "30" "3072" "0" "3072" "0" "c.*1368G>A" "r.(=)" "p.(=)" "" "0000856422" "00000457" "30" "1617" "0" "1617" "0" "c.1617C>T" "r.(?)" "p.(Ser539=)" "" "0000867175" "00000457" "50" "2606" "0" "2606" "0" "c.*902C>T" "r.(=)" "p.(=)" "" "0000881860" "00000457" "50" "1402" "0" "1402" "0" "c.1402G>T" "r.(?)" "p.(Gly468*)" "13" "0000951702" "00000457" "30" "-4204" "0" "-4204" "0" "c.-4204C>T" "r.(?)" "p.(=)" "" "0000959907" "00000457" "50" "1249" "-46" "1249" "-42" "c.1249-46_1249-42del" "r.(=)" "p.(=)" "" "0000959980" "00000457" "50" "1249" "-46" "1249" "-42" "c.1249-46_1249-42del" "r.(=)" "p.(=)" "" "0000984535" "00000457" "30" "-4981" "0" "-4981" "0" "c.-4981C>T" "r.(?)" "p.(=)" "" "0000989438" "00000457" "70" "280" "0" "280" "0" "c.280T>G" "r.(?)" "p.(Trp94Gly)" "" "0000989440" "00000457" "50" "280" "0" "280" "0" "c.280T>G" "r.(?)" "p.(Trp94Gly)" "" "0001006530" "00000457" "50" "387" "0" "387" "0" "c.387T>G" "r.(?)" "p.(Cys129Trp)" "" "0001006531" "00000457" "30" "1055" "0" "1055" "0" "c.1055G>C" "r.(?)" "p.(Gly352Ala)" "" "0001006532" "00000457" "30" "1434" "0" "1434" "0" "c.1434C>G" "r.(?)" "p.(Ile478Met)" "" "0001006533" "00000457" "50" "2567" "0" "2567" "0" "c.*863C>T" "r.(=)" "p.(=)" "" "0001017664" "00000457" "90" "475" "0" "475" "0" "c.475C>G" "r.(?)" "p.(His159Asp)" "" "0001017665" "00000457" "90" "475" "0" "475" "0" "c.475C>G" "r.(?)" "p.(His159Asp)" "" "0001017666" "00000457" "90" "475" "0" "475" "0" "c.475C>G" "r.(?)" "p.(His159Asp)" "" "0001017667" "00000457" "90" "475" "0" "475" "0" "c.475C>G" "r.(?)" "p.(His159Asp)" "" "0001017668" "00000457" "90" "475" "0" "475" "0" "c.475C>G" "r.(?)" "p.(His159Asp)" "" "0001017669" "00000457" "90" "1373" "0" "1373" "0" "c.1373C>A" "r.(?)" "p.(Thr458Asn)" "" "0001017670" "00000457" "90" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Glu529Lys)" "" "0001017671" "00000457" "90" "953" "0" "953" "0" "c.953C>T" "r.(?)" "p.(Ser318Leu)" "" "0001017672" "00000457" "90" "1413" "0" "1414" "0" "c.1413_1414del" "r.(?)" "p.(Tyr471Ter)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{variantid}}" "0000000209" "0000003324" "0000000209" "0000008037" "0000000210" "0000010203" "0000000210" "0000010204" "0000000210" "0000010205" "0000000210" "0000011310" "0000174388" "0000401300" "0000184095" "0000408064" "0000421233" "0000881860" "0000449535" "0000959907" "0000449536" "0000959980" "0000459593" "0001017664" "0000459594" "0001017665" "0000459595" "0001017666" "0000459596" "0001017667" "0000459597" "0001017668" "0000459598" "0001017669" "0000459599" "0001017670" "0000459600" "0001017671" "0000459601" "0001017672"