### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = STIL) # 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}}" "STIL" "SCL/TAL1 interrupting locus" "1" "p32" "unknown" "NG_012126.1" "UD_132118721716" "" "http://www.LOVD.nl/STIL" "" "1" "10879" "6491" "181590" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/STIL_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-11-28 12:53:53" "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}}" "00024204" "STIL" "transcript variant 1" "002" "NM_001048166.1" "" "NP_001041631.1" "" "" "" "-155" "4864" "3867" "47779819" "47715811" "00006" "2016-11-28 12:52:34" "" "" ## 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" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03181" "MCPH7" "microcephaly, type 7, autosomal recessive (MCPH-7)" "AR" "612703" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05421" "microcephaly" "microcephaly" "" "" "" "" "" "00006" "2018-04-15 11:41:15" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "STIL" "00139" "STIL" "03181" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00089033" "" "" "" "2" "" "01835" "" "" "M" "no" "(Belgium)" "" "0" "" "termination of pregnancy" "white" "" "00150164" "" "" "" "1" "" "00006" "{PMID:Karaca 2015:26539891}" "" "" "" "" "" "0" "family structure in paper" "" "" "26539891-FamBAB4882" "00289872" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307975" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:28940097}" "simplex case" "M" "" "" "" "0" "" "" "" "17DG0779" "00316025" "" "" "" "1" "" "00006" "{PMID:Zaharieva 2016:26700687}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Fam1PatII1" "00387901" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals, third cousin parents" "" "yes" "Iran" "" "0" "" "" "Persia" "M9100011" "00433501" "" "" "" "7" "" "00006" "{PMID:Papari 2013:22989186}" "6-generation family, 7 affected (4F, 3M), unaffected heterozygous parents/relatives" "F;M" "yes" "Iran" "" "0" "" "" "" "FamM-8900187" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00089033" "03181" "00150164" "00198" "00289872" "00198" "00307975" "00139" "00316025" "00198" "00387901" "00139" "00433501" "05421" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 03181, 05421 ## Count = 6 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000068432" "03181" "00089033" "01835" "Familial, autosomal recessive" "" "prenatal microcephaly with simplified gyral pattern, partial agenesis of corpus callosum, pachygyria" "" "prenatal" "" "" "" "" "" "" "" "" "" "0000122566" "00198" "00150164" "00006" "Familial, autosomal recessive" "" "intellectual diability, seizures, microcephaly" "" "" "" "" "" "" "" "" "" "" "" "0000233398" "00139" "00307975" "00006" "Familial, autosomal recessive" "13y" "see paper; ..., Intellectual disability, Attention deficit hyperactivity disorder, Failure to thrive, Microcephaly, Abnormal facial shape, Partial agenesis of corpus callosum, Holoprosencephaly, Pachygyria, Absent septum pellucidum, Delayed motor and language development; Ataxia, Dystonia, Spasticity, Short stature" "" "" "" "" "" "" "" "" "" "intellectual diability" "" "0000239770" "00198" "00316025" "00006" "Familial, autosomal recessive" "14y" "see paper; ..., fetal reduced movements, breech presentation; birth moderate to severe congenital hypotonia, weak cry, thin muscle build, talipes, tube fed first 12 days, ongoing difficulties with suck during infancy but able to bottle feed; mild facial weakness, high arched palate, elongated face, neck flexion and axial weakness; limb weakness PUL ++, DUL +, PLL +++, DLL ++, weakest muscle groups neck flexors, axial muscles, hip extensors, abductors; generalized muscle atrophy most marked in shoulders; 2y-oromotor difficulties resolved; 2y-hip, knee and Achilles tendon contractures; delayed motor milestones, walk2y9m, jump-3-4y, run-3-4y (slowly); childhood: frequent falls, positive Gowers’ sign, ongoing improvements in strength and motor skills over time14y-still ambulant (500 m) with slow waddling gait, 4y-uses splints, K-walker and manual wheelchair for longer distances; 3y9m-mild ophthalmoplegia (upgaze weakness) noted, large asymmetrical dolichocephalic head shape, frontal bossing, micrognathia; 2y-scoliosis, spinal rigidity; 12y-spinal fusion for scoliosis; 6y-BIPAP required, 13y10m FVC 0.44; pes planus childhood; height initially 50th percentile fell to 2–10th percentile 13y10m (in part due to scoliosis); hypermobility; mild asymmetrical pectus excavatum; 12y-short-lived episodic weakness during febrile illnesses, post-exercise and on hot days; 13y-activity-limiting increase in fatigability, fatigues quickly with walking and writing; improved strength endurance with regular oral salbutamol" "" "" "" "" "" "" "" "" "" "congenital myopathy" "" "0000281469" "00139" "00387901" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000323962" "05421" "00433501" "00006" "Familial, autosomal recessive" "" "microcephaly, mild intellectual disability" "" "" "" "" "" "" "" "" "MCPH7" "microcephaly" "" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000089178" "00089033" "1" "01835" "01835" "2016-11-28 10:58:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000151019" "00150164" "1" "00006" "00006" "2018-01-13 12:41:38" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000291040" "00289872" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309119" "00307975" "1" "00006" "00006" "2020-08-23 13:31:08" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical WES" "0000317207" "00316025" "1" "00006" "00006" "2020-11-01 16:34:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000389132" "00387901" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000434956" "00433501" "1" "00006" "00006" "2023-03-10 12:42:53" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000151019" "STIL" "0000309119" "STIL" "0000317207" "SCN4A" "0000389132" "STIL" "0000434956" "STIL" ## 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 = 64 "{{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}}" "0000147090" "11" "70" "1" "47717305" "47717305" "subst" "0" "01835" "STIL_000002" "g.47717305T>C" "" "" "" "" "compound heterozygous case" "Germline" "yes" "rs776799930" "0" "" "" "g.47251633T>C" "" "likely pathogenic" "" "0000147091" "21" "70" "1" "47748034" "47748034" "subst" "0" "01835" "STIL_000001" "g.47748034G>C" "" "" "" "" "G>T at same position is rs746778024; compound heterozygous case" "Germline" "yes" "rs746778024" "0" "" "" "g.47282362G>C" "" "likely pathogenic" "" "0000244178" "1" "90" "1" "47746675" "47746675" "subst" "0.00217363" "00006" "STIL_000003" "g.47746675C>G" "" "{PMID:Karaca 2015:26539891}" "" "NM_001048166: c.G1455C; p.L485F" "" "Germline" "" "" "0" "" "" "g.47281003C>G" "" "pathogenic" "" "0000244179" "2" "90" "1" "47748039" "47748039" "subst" "2.03623E-5" "00006" "STIL_000004" "g.47748039C>G" "" "{PMID:Karaca 2015:26539891}" "" "NM_001048166: c.G1226C; p.S409T" "" "Germline" "" "" "0" "" "" "g.47282367C>G" "" "pathogenic" "" "0000247936" "0" "10" "1" "47717189" "47717189" "subst" "0.503822" "02325" "STIL_000009" "g.47717189A>G" "" "" "" "STIL(NM_001048166.1):c.3486T>C (p.P1162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47251517A>G" "" "benign" "" "0000253197" "0" "10" "1" "47717189" "47717189" "subst" "0.503822" "01943" "STIL_000009" "g.47717189A>G" "" "" "" "STIL(NM_001048166.1):c.3486T>C (p.P1162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47251517A>G" "" "benign" "" "0000254404" "0" "30" "1" "47753236" "47753236" "subst" "0" "01943" "STIL_000025" "g.47753236A>G" "" "" "" "STIL(NM_001048166.1):c.1120T>C (p.F374L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47287564A>G" "" "likely benign" "" "0000254481" "0" "30" "1" "47717342" "47717342" "subst" "0" "01943" "STIL_000033" "g.47717342A>G" "" "" "" "STIL(NM_001048166.1):c.3333T>C (p.I1111=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47251670A>G" "" "likely benign" "" "0000255941" "0" "50" "1" "47716962" "47716962" "subst" "4.0626E-6" "01943" "STIL_000032" "g.47716962A>C" "" "" "" "STIL(NM_001048166.1):c.3713T>G (p.F1238C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47251290A>C" "" "VUS" "" "0000311579" "0" "10" "1" "47767914" "47767914" "subst" "0.496532" "02325" "STIL_000029" "g.47767914G>A" "" "" "" "STIL(NM_001048166.1):c.257C>T (p.A86V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47302242G>A" "" "benign" "" "0000311580" "0" "10" "1" "47726087" "47726087" "subst" "0.239076" "02325" "STIL_000013" "g.47726087T>C" "" "" "" "STIL(NM_001048166.1):c.2954A>G (p.H985R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47260415T>C" "" "benign" "" "0000314178" "0" "90" "1" "47770669" "47770669" "subst" "4.07521E-6" "02326" "STIL_000031" "g.47770669C>T" "" "" "" "STIL(NM_001282936.1):c.45-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47304997C>T" "" "pathogenic" "" "0000315801" "0" "30" "1" "47753320" "47753320" "subst" "0" "01943" "STIL_000026" "g.47753320G>A" "" "" "" "STIL(NM_001282936.1):c.1036C>T (p.P346S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47287648G>A" "" "likely benign" "" "0000315802" "0" "30" "1" "47748129" "47748129" "subst" "0.00224618" "01943" "STIL_000024" "g.47748129G>A" "" "" "" "STIL(NM_001048166.1):c.1136C>T (p.S379F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47282457G>A" "" "likely benign" "" "0000315803" "0" "10" "1" "47746678" "47746678" "subst" "0.118431" "01943" "STIL_000023" "g.47746678G>C" "" "" "" "STIL(NM_001048166.1):c.1452C>G (p.S484=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47281006G>C" "" "benign" "" "0000315804" "0" "30" "1" "47746675" "47746675" "subst" "0.00217363" "01943" "STIL_000003" "g.47746675C>G" "" "" "" "STIL(NM_001048166.1):c.1455G>C (p.L485F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47281003C>G" "" "likely benign" "" "0000315805" "0" "50" "1" "47746430" "47746430" "subst" "1.21902E-5" "01943" "STIL_000022" "g.47746430G>A" "" "" "" "STIL(NM_001048166.1):c.1700C>T (p.P567L, p.(Pro567Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47280758G>A" "" "VUS" "" "0000315806" "0" "10" "1" "47746113" "47746113" "subst" "0.00290372" "01943" "STIL_000021" "g.47746113T>C" "" "" "" "STIL(NM_001048166.1):c.2017A>G (p.S673G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47280441T>C" "" "benign" "" "0000315807" "0" "30" "1" "47746060" "47746060" "subst" "4.46682E-5" "01943" "STIL_000020" "g.47746060T>A" "" "" "" "STIL(NM_001048166.1):c.2070A>T (p.S690=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47280388T>A" "" "likely benign" "" "0000315808" "0" "30" "1" "47745955" "47745955" "subst" "0" "01943" "STIL_000019" "g.47745955G>A" "" "" "" "STIL(NM_001048166.1):c.2175C>T (p.F725=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47280283G>A" "" "likely benign" "" "0000315809" "0" "10" "1" "47737930" "47737930" "subst" "0.0345366" "01943" "STIL_000018" "g.47737930C>T" "" "" "" "STIL(NM_001048166.1):c.2218-17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47272258C>T" "" "benign" "" "0000315810" "0" "50" "1" "47737769" "47737769" "subst" "0.00079197" "01943" "STIL_000017" "g.47737769C>T" "" "" "" "STIL(NM_001048166.1):c.2362G>A (p.V788I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47272097C>T" "" "VUS" "" "0000315811" "0" "30" "1" "47735551" "47735551" "subst" "0.00519951" "01943" "STIL_000016" "g.47735551T>C" "" "" "" "STIL(NM_001048166.1):c.2384-13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47269879T>C" "" "likely benign" "" "0000315812" "0" "30" "1" "47735468" "47735468" "subst" "1.62476E-5" "01943" "STIL_000015" "g.47735468G>A" "" "" "" "STIL(NM_001048166.1):c.2454C>T (p.T818=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47269796G>A" "" "likely benign" "" "0000315813" "0" "10" "1" "47767914" "47767914" "subst" "0.496532" "01943" "STIL_000029" "g.47767914G>A" "" "" "" "STIL(NM_001048166.1):c.257C>T (p.A86V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47302242G>A" "" "benign" "" "0000315814" "0" "10" "1" "47735280" "47735280" "subst" "0.504342" "01943" "STIL_000014" "g.47735280T>C" "" "" "" "STIL(NM_001048166.1):c.2615+27A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47269608T>C" "" "benign" "" "0000315815" "0" "10" "1" "47726087" "47726087" "subst" "0.239076" "01943" "STIL_000013" "g.47726087T>C" "" "" "" "STIL(NM_001048166.1):c.2954A>G (p.H985R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47260415T>C" "" "benign" "" "0000315816" "0" "30" "1" "47717399" "47717399" "subst" "0.000398086" "01943" "STIL_000011" "g.47717399G>A" "" "" "" "STIL(NM_001048166.1):c.3276C>T (p.D1092=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47251727G>A" "" "likely benign" "" "0000315817" "0" "30" "1" "47717297" "47717297" "subst" "0.00460487" "01943" "STIL_000010" "g.47717297T>C" "" "" "" "STIL(NM_001048166.1):c.3378A>G (p.R1126=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47251625T>C" "" "likely benign" "" "0000315818" "0" "50" "1" "47717188" "47717188" "subst" "4.06573E-5" "01943" "STIL_000008" "g.47717188C>T" "" "" "" "STIL(NM_001048166.1):c.3487G>A (p.E1163K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47251516C>T" "" "VUS" "" "0000315819" "0" "50" "1" "47717124" "47717124" "subst" "0" "01943" "STIL_000006" "g.47717124C>G" "" "" "" "STIL(NM_001048166.1):c.3551G>C (p.C1184S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47251452C>G" "" "VUS" "" "0000315820" "0" "30" "1" "47716889" "47716889" "subst" "0.00741179" "01943" "STIL_000005" "g.47716889C>T" "" "" "" "STIL(NM_001048166.1):c.3786G>A (p.T1262=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47251217C>T" "" "likely benign" "" "0000315821" "0" "50" "1" "47765758" "47765758" "subst" "8.12288E-6" "01943" "STIL_000028" "g.47765758G>A" "" "" "" "STIL(NM_001048166.1):c.520C>T (p.H174Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47300086G>A" "" "VUS" "" "0000315822" "0" "30" "1" "47765705" "47765705" "subst" "4.06138E-5" "01943" "STIL_000027" "g.47765705T>C" "" "" "" "STIL(NM_001048166.1):c.573A>G (p.A191=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47300033T>C" "" "likely benign" "" "0000320813" "0" "50" "1" "47717160" "47717160" "subst" "0.00175173" "01804" "STIL_000007" "g.47717160G>A" "" "" "" "STIL(NM_001048166.1):c.3515C>T (p.(Ser1172Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47251488G>A" "" "VUS" "" "0000320815" "0" "50" "1" "47725980" "47725980" "subst" "0.000158542" "01804" "STIL_000012" "g.47725980G>A" "" "" "" "STIL(NM_001048166.1):c.3061C>T (p.(His1021Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47260308G>A" "" "VUS" "" "0000320816" "0" "50" "1" "47767944" "47767944" "subst" "0.000113707" "01804" "STIL_000030" "g.47767944G>A" "" "" "" "STIL(NM_001048166.1):c.227C>T (p.(Ser76Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47302272G>A" "" "VUS" "" "0000340159" "0" "10" "1" "47717189" "47717189" "subst" "0.503822" "02327" "STIL_000009" "g.47717189A>G" "" "" "" "STIL(NM_001048166.1):c.3486T>C (p.P1162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47251517A>G" "" "benign" "" "0000340160" "0" "10" "1" "47746678" "47746678" "subst" "0.118431" "02327" "STIL_000023" "g.47746678G>C" "" "" "" "STIL(NM_001048166.1):c.1452C>G (p.S484=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47281006G>C" "" "benign" "" "0000341610" "0" "10" "1" "47767914" "47767914" "subst" "0.496532" "02327" "STIL_000029" "g.47767914G>A" "" "" "" "STIL(NM_001048166.1):c.257C>T (p.A86V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47302242G>A" "" "benign" "" "0000346539" "0" "10" "1" "47726087" "47726087" "subst" "0.239076" "02327" "STIL_000013" "g.47726087T>C" "" "" "" "STIL(NM_001048166.1):c.2954A>G (p.H985R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47260415T>C" "" "benign" "" "0000507768" "0" "50" "1" "47716826" "47716826" "subst" "4.06666E-6" "01804" "STIL_000034" "g.47716826C>A" "" "" "" "STIL(NM_001048166.1):c.3849G>T (p.(Gln1283His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47251154C>A" "" "VUS" "" "0000507769" "0" "50" "1" "47716899" "47716899" "subst" "4.08383E-6" "01804" "STIL_000035" "g.47716899G>T" "" "" "" "STIL(NM_001048166.1):c.3776C>A (p.(Pro1259His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47251227G>T" "" "VUS" "" "0000507770" "0" "50" "1" "47716981" "47716981" "subst" "2.03118E-5" "01943" "STIL_000036" "g.47716981G>A" "" "" "" "STIL(NM_001282936.1):c.3691C>T (p.R1231*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47251309G>A" "" "VUS" "" "0000507771" "0" "30" "1" "47726004" "47726004" "subst" "0" "01804" "STIL_000037" "g.47726004G>A" "" "" "" "STIL(NM_001048166.1):c.3037C>T (p.(Pro1013Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47260332G>A" "" "likely benign" "" "0000507772" "0" "50" "1" "47746430" "47746430" "subst" "1.21902E-5" "01804" "STIL_000022" "g.47746430G>A" "" "" "" "STIL(NM_001048166.1):c.1700C>T (p.P567L, p.(Pro567Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47280758G>A" "" "VUS" "" "0000507773" "0" "70" "1" "47748036" "47748036" "subst" "0.000171102" "02326" "STIL_000038" "g.47748036G>C" "" "" "" "STIL(NM_001048166.1):c.1229C>G (p.(Pro410Arg)), STIL(NM_001282936.1):c.1229C>G (p.P410R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47282364G>C" "" "likely pathogenic" "" "0000507775" "0" "30" "1" "47753287" "47753287" "subst" "0.000630194" "01943" "STIL_000039" "g.47753287C>T" "" "" "" "STIL(NM_001282936.1):c.1069G>A (p.A357T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47287615C>T" "" "likely benign" "" "0000507776" "0" "50" "1" "47753300" "47753300" "del" "0" "01943" "STIL_000040" "g.47753300del" "" "" "" "STIL(NM_001282936.1):c.1057delT (p.C353Vfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47287628del" "" "VUS" "" "0000507777" "0" "30" "1" "47753305" "47753305" "subst" "8.12651E-6" "01943" "STIL_000041" "g.47753305T>C" "" "" "" "STIL(NM_001282936.1):c.1051A>G (p.I351V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47287633T>C" "" "likely benign" "" "0000605816" "0" "30" "1" "47746291" "47746291" "subst" "4.06118E-6" "01943" "STIL_000042" "g.47746291T>C" "" "" "" "STIL(NM_001048166.1):c.1839A>G (p.Q613=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47280619T>C" "" "likely benign" "" "0000647729" "1" "50" "1" "47737769" "47737769" "subst" "0.00079197" "03575" "STIL_000017" "g.47737769C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs149697952}" "Germline" "" "rs149697952" "0" "" "" "g.47272097C>T" "" "VUS" "" "0000683582" "3" "70" "1" "47717122" "47717123" "del" "4.06332E-6" "00006" "STIL_000043" "g.47717122_47717123del" "" "{PMID:Anazi 2017:28940097}" "" "" "ACMG PVS1,PM2" "Germline" "" "" "0" "" "" "g.47251450_47251451del" "" "likely pathogenic (recessive)" "ACMG" "0000688197" "0" "10" "1" "47753301" "47753301" "subst" "0.000792348" "01943" "STIL_000044" "g.47753301C>T" "" "" "" "STIL(NM_001282936.1):c.1055G>A (p.R352H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000699709" "1" "70" "1" "47717077" "47717077" "subst" "0.000150354" "00006" "STIL_000045" "g.47717077T>C" "" "{PMID:Zaharieva 2016:26700687}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000699710" "2" "30" "1" "47767258" "47767258" "subst" "3.25304E-5" "00006" "STIL_000046" "g.47767258A>G" "" "{PMID:Zaharieva 2016:26700687}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000799407" "0" "50" "1" "47767376" "47767376" "subst" "0" "01943" "STIL_000047" "g.47767376G>C" "" "" "" "STIL(NM_001282936.1):c.310C>G (p.R104G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000817925" "3" "70" "1" "47765703" "47765703" "subst" "0" "00006" "STIL_000048" "g.47765703G>A" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.47300031G>A" "" "likely pathogenic (recessive)" "ACMG" "0000920865" "3" "90" "1" "47735529" "47735529" "subst" "0" "00006" "STIL_000049" "g.47735529A>C" "" "{PMID:Papari 2013:22989186}" "" "2392T>G (L798W)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000961084" "0" "30" "1" "47717245" "47717245" "subst" "0.0017088" "01943" "STIL_000050" "g.47717245C>T" "" "" "" "STIL(NM_001048166.1):c.3430G>A (p.D1144N), STIL(NM_001282936.1):c.3427G>A (p.D1143N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974018" "0" "50" "1" "47748036" "47748036" "subst" "0.000171102" "01804" "STIL_000038" "g.47748036G>C" "" "" "" "STIL(NM_001048166.1):c.1229C>G (p.(Pro410Arg)), STIL(NM_001282936.1):c.1229C>G (p.P410R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974019" "0" "50" "1" "47770660" "47770660" "subst" "0" "01804" "STIL_000051" "g.47770660G>C" "" "" "" "STIL(NM_001048166.1):c.53C>G (p.(Ser18Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032112" "0" "50" "1" "47716975" "47716975" "subst" "2.03123E-5" "01804" "STIL_000052" "g.47716975C>T" "" "" "" "STIL(NM_001048166.1):c.3700G>A (p.(Gly1234Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032113" "0" "50" "1" "47770668" "47770668" "subst" "8.14564E-6" "01804" "STIL_000053" "g.47770668C>A" "" "" "" "STIL(NM_001048166.1):c.45G>T (p.(Arg15Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes STIL ## Count = 64 "{{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}}" "0000147090" "00024204" "70" "3370" "0" "3370" "0" "c.3370A>G" "r.(?)" "p.(Met1124Val)" "17" "0000147091" "00024204" "70" "1231" "0" "1231" "0" "c.1231C>G" "r.(?)" "p.(His411Asp)" "11" "0000244178" "00024204" "90" "1455" "0" "1455" "0" "c.1455G>C" "r.(?)" "p.(Leu485Phe)" "" "0000244179" "00024204" "90" "1226" "0" "1226" "0" "c.1226G>C" "r.(?)" "p.(Ser409Thr)" "" "0000247936" "00024204" "10" "3486" "0" "3486" "0" "c.3486T>C" "r.(?)" "p.(Pro1162=)" "" "0000253197" "00024204" "10" "3486" "0" "3486" "0" "c.3486T>C" "r.(?)" "p.(Pro1162=)" "" "0000254404" "00024204" "30" "1120" "0" "1120" "0" "c.1120T>C" "r.(?)" "p.(Phe374Leu)" "" "0000254481" "00024204" "30" "3333" "0" "3333" "0" "c.3333T>C" "r.(?)" "p.(Ile1111=)" "" "0000255941" "00024204" "50" "3713" "0" "3713" "0" "c.3713T>G" "r.(?)" "p.(Phe1238Cys)" "" "0000311579" "00024204" "10" "257" "0" "257" "0" "c.257C>T" "r.(?)" "p.(Ala86Val)" "" "0000311580" "00024204" "10" "2954" "0" "2954" "0" "c.2954A>G" "r.(?)" "p.(His985Arg)" "" "0000314178" "00024204" "90" "45" "-1" "45" "-1" "c.45-1G>A" "r.spl?" "p.?" "" "0000315801" "00024204" "30" "1036" "0" "1036" "0" "c.1036C>T" "r.(?)" "p.(Pro346Ser)" "" "0000315802" "00024204" "30" "1136" "0" "1136" "0" "c.1136C>T" "r.(?)" "p.(Ser379Phe)" "" "0000315803" "00024204" "10" "1452" "0" "1452" "0" "c.1452C>G" "r.(?)" "p.(Ser484=)" "" "0000315804" "00024204" "30" "1455" "0" "1455" "0" "c.1455G>C" "r.(?)" "p.(Leu485Phe)" "" "0000315805" "00024204" "50" "1700" "0" "1700" "0" "c.1700C>T" "r.(?)" "p.(Pro567Leu)" "" "0000315806" "00024204" "10" "2017" "0" "2017" "0" "c.2017A>G" "r.(?)" "p.(Ser673Gly)" "" "0000315807" "00024204" "30" "2070" "0" "2070" "0" "c.2070A>T" "r.(?)" "p.(Ser690=)" "" "0000315808" "00024204" "30" "2175" "0" "2175" "0" "c.2175C>T" "r.(?)" "p.(Phe725=)" "" "0000315809" "00024204" "10" "2218" "-17" "2218" "-17" "c.2218-17G>A" "r.(=)" "p.(=)" "" "0000315810" "00024204" "50" "2362" "0" "2362" "0" "c.2362G>A" "r.(?)" "p.(Val788Ile)" "" "0000315811" "00024204" "30" "2384" "-13" "2384" "-13" "c.2384-13A>G" "r.(=)" "p.(=)" "" "0000315812" "00024204" "30" "2454" "0" "2454" "0" "c.2454C>T" "r.(?)" "p.(Thr818=)" "" "0000315813" "00024204" "10" "257" "0" "257" "0" "c.257C>T" "r.(?)" "p.(Ala86Val)" "" "0000315814" "00024204" "10" "2615" "27" "2615" "27" "c.2615+27A>G" "r.(=)" "p.(=)" "" "0000315815" "00024204" "10" "2954" "0" "2954" "0" "c.2954A>G" "r.(?)" "p.(His985Arg)" "" "0000315816" "00024204" "30" "3276" "0" "3276" "0" "c.3276C>T" "r.(?)" "p.(Asp1092=)" "" "0000315817" "00024204" "30" "3378" "0" "3378" "0" "c.3378A>G" "r.(?)" "p.(Arg1126=)" "" "0000315818" "00024204" "50" "3487" "0" "3487" "0" "c.3487G>A" "r.(?)" "p.(Glu1163Lys)" "" "0000315819" "00024204" "50" "3551" "0" "3551" "0" "c.3551G>C" "r.(?)" "p.(Cys1184Ser)" "" "0000315820" "00024204" "30" "3786" "0" "3786" "0" "c.3786G>A" "r.(?)" "p.(Thr1262=)" "" "0000315821" "00024204" "50" "520" "0" "520" "0" "c.520C>T" "r.(?)" "p.(His174Tyr)" "" "0000315822" "00024204" "30" "573" "0" "573" "0" "c.573A>G" "r.(?)" "p.(Ala191=)" "" "0000320813" "00024204" "50" "3515" "0" "3515" "0" "c.3515C>T" "r.(?)" "p.(Ser1172Phe)" "" "0000320815" "00024204" "50" "3061" "0" "3061" "0" "c.3061C>T" "r.(?)" "p.(His1021Tyr)" "" "0000320816" "00024204" "50" "227" "0" "227" "0" "c.227C>T" "r.(?)" "p.(Ser76Leu)" "" "0000340159" "00024204" "10" "3486" "0" "3486" "0" "c.3486T>C" "r.(?)" "p.(Pro1162=)" "" "0000340160" "00024204" "10" "1452" "0" "1452" "0" "c.1452C>G" "r.(?)" "p.(Ser484=)" "" "0000341610" "00024204" "10" "257" "0" "257" "0" "c.257C>T" "r.(?)" "p.(Ala86Val)" "" "0000346539" "00024204" "10" "2954" "0" "2954" "0" "c.2954A>G" "r.(?)" "p.(His985Arg)" "" "0000507768" "00024204" "50" "3849" "0" "3849" "0" "c.3849G>T" "r.(?)" "p.(Gln1283His)" "" "0000507769" "00024204" "50" "3776" "0" "3776" "0" "c.3776C>A" "r.(?)" "p.(Pro1259His)" "" "0000507770" "00024204" "50" "3694" "0" "3694" "0" "c.3694C>T" "r.(?)" "p.(Arg1232Ter)" "" "0000507771" "00024204" "30" "3037" "0" "3037" "0" "c.3037C>T" "r.(?)" "p.(Pro1013Ser)" "" "0000507772" "00024204" "50" "1700" "0" "1700" "0" "c.1700C>T" "r.(?)" "p.(Pro567Leu)" "" "0000507773" "00024204" "70" "1229" "0" "1229" "0" "c.1229C>G" "r.(?)" "p.(Pro410Arg)" "" "0000507775" "00024204" "30" "1069" "0" "1069" "0" "c.1069G>A" "r.(?)" "p.(Ala357Thr)" "" "0000507776" "00024204" "50" "1057" "0" "1057" "0" "c.1057del" "r.(?)" "p.(Cys353ValfsTer3)" "" "0000507777" "00024204" "30" "1051" "0" "1051" "0" "c.1051A>G" "r.(?)" "p.(Ile351Val)" "" "0000605816" "00024204" "30" "1839" "0" "1839" "0" "c.1839A>G" "r.(?)" "p.(Gln613=)" "" "0000647729" "00024204" "50" "2362" "0" "2362" "0" "c.2362G>A" "r.(?)" "p.(Val788Ile)" "" "0000683582" "00024204" "70" "3552" "0" "3553" "0" "c.3552_3553del" "r.(?)" "p.(Cys1184*)" "" "0000688197" "00024204" "10" "1055" "0" "1055" "0" "c.1055G>A" "r.(?)" "p.(Arg352His)" "" "0000699709" "00024204" "70" "3598" "0" "3598" "0" "c.3598A>G" "r.(?)" "p.(Thr1200Ala)" "" "0000699710" "00024204" "30" "428" "0" "428" "0" "c.428T>C" "r.(?)" "p.(Val143Ala)" "" "0000799407" "00024204" "50" "310" "0" "310" "0" "c.310C>G" "r.(?)" "p.(Arg104Gly)" "" "0000817925" "00024204" "70" "575" "0" "575" "0" "c.575C>T" "r.(?)" "p.(Ala192Val)" "" "0000920865" "00024204" "90" "2393" "0" "2393" "0" "c.2393T>G" "r.(?)" "p.(Leu798Trp)" "" "0000961084" "00024204" "30" "3430" "0" "3430" "0" "c.3430G>A" "r.(?)" "p.(Asp1144Asn)" "" "0000974018" "00024204" "50" "1229" "0" "1229" "0" "c.1229C>G" "r.(?)" "p.(Pro410Arg)" "" "0000974019" "00024204" "50" "53" "0" "53" "0" "c.53C>G" "r.(?)" "p.(Ser18*)" "" "0001032112" "00024204" "50" "3700" "0" "3700" "0" "c.3700G>A" "r.(?)" "p.(Gly1234Arg)" "" "0001032113" "00024204" "50" "45" "0" "45" "0" "c.45G>T" "r.(?)" "p.(Arg15Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000089178" "0000147090" "0000089178" "0000147091" "0000151019" "0000244178" "0000151019" "0000244179" "0000291040" "0000647729" "0000309119" "0000683582" "0000317207" "0000699709" "0000317207" "0000699710" "0000389132" "0000817925" "0000434956" "0000920865"