### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SPTAN1) # 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}}" "SPTAN1" "spectrin, alpha, non-erythrocytic 1" "9" "q34.11" "unknown" "NG_027748.1" "UD_132118705217" "" "http://www.LOVD.nl/SPTAN1" "" "1" "11273" "6709" "182810" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) 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/SPTAN1_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2010-06-25 00:00:00" "00006" "2015-01-24 19:19:26" "00000" "2025-07-08 13:22:38" ## 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}}" "00024012" "SPTAN1" "spectrin, alpha, non-erythrocytic 1 (alpha-fodrin), transcript variant 1" "001" "NM_001130438.2" "" "NP_001123910.1" "" "" "" "-142" "7765" "7434" "131314837" "131395944" "00006" "2015-01-24 19:21:24" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "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" "00281" "DEE4" "encephalopathy, developmental and epileptic, type 4" "AD;AR" "612164" "" "" "" "00008" "2013-11-25 16:14:10" "00006" "2024-02-02 17:40:39" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01451" "DYT11" "dystonia, myoclonic, type 11 (DYT11)" "AD" "159900" "" "myoclonic jerks affecting mostly proximal muscles; dystonia, usually torticollis or writer\'s cramp, observed in most patients, occasionally the only symptom; onset usually first or second decade; symptoms often respond to alcohol, patients may have psychiatric abnormalities" "maternal inheritance most without clinical symptoms" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03342" "EIEE5" "encephalopathy, epileptic, early infantile, type 5 (EIEE-5)" "AD" "613477" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05315" "epilepsy, Rolandic" "epilepsy, Rolandic" "" "" "" "" "" "00006" "2017-08-11 13:02:50" "" "" "05330" "TSC" "tuberous sclerosis" "" "" "" "" "" "00006" "2017-09-19 09:35:08" "00006" "2022-08-19 09:49:37" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SPTAN1" "03342" ## Individuals ## Do not remove or alter this header ## ## Count = 56 "{{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}}" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00019861" "" "" "" "1" "" "00705" "{PMID:Gilissen 2014:24896178}" "" "?" "?" "" "" "0" "" "" "" "" "00029649" "" "" "" "5" "" "00006" "{PMID:Groen 2015:25296916}" "4-generation famil, 5 affecteds (4F, 1M)" "" "no" "Netherlands" "" "0" "" "" "" "" "00050465" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050522" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected sibling(s)" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050572" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00116832" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_154:0/1:CONTROL" "00116838" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_168:0/1:CONTROL" "00116848" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_185:0/1:CONTROL" "00116849" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_186:0/1:CONTROL" "00116868" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_230:0/1:CONTROL" "00116873" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_242:0/1:CONTROL" "00116875" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_252:0/1:CONTROL" "00116894" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_293:0/1:CONTROL" "00116903" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_31:0/1:CONTROL" "00116919" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_344:0/1:CONTROL" "00116931" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_375:0/1:CONTROL" "00116940" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_407:0/1:CONTROL" "00116946" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_419:0/1:CONTROL" "00116963" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_461:0/1:CONTROL" "00116996" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_521:0/1:CONTROL" "00117012" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_561:0/1:CONTROL" "00117015" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_565:0/1:CONTROL" "00117017" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_567:0/1:CONTROL" "00117025" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_578:0/1:TYPICAL_RE" "00117030" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_584:0/1:ATYPICAL_RE" "00117034" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_595:0/1:TYPICAL_RE" "00117050" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_62:0/1:CONTROL" "00117054" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_627:0/1:TYPICAL_RE" "00117055" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_628:0/1:TYPICAL_RE" "00117057" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_630:0/1:TYPICAL_RE" "00117070" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_665:0/1:TYPICAL_RE" "00117078" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_678:0/1:TYPICAL_RE" "00117085" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_702:0/1:ATYPICAL_RE" "00117086" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_703:0/1:TYPICAL_RE" "00150163" "" "" "" "3" "" "00006" "{PMID:Karaca 2015:26539891}" "" "" "" "" "" "0" "family structure in paper" "" "" "26539891-FamBAB5966" "00177014" "" "" "" "2" "" "02552" "{PMID:Abela 2016:26174906}" "3-generation family, affected twin brothers, unaffected heterozygous carrier mother" "M" "no" "Italy" "" "0" "" "" "" "72555" "00227813" "" "" "" "1" "" "00000" "{PMID:Tohyama 2008:18065176}" "" "F" "" "Japan" "" "0" "" "" "" "" "00227814" "" "" "" "1" "" "00000" "{PMID:Tohyama 2008:18065176}" "" "F" "" "Japan" "" "0" "" "" "" "" "00227815" "" "" "" "1" "" "00000" "{PMID:Tohyama 2008:18065176}" "" "M" "" "Japan" "" "0" "" "" "" "" "00294748" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294750" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294752" "" "" "" "211" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00300570" "" "" "" "1" "" "00596" "{PMID:Geffrey,, 2020:32340510}" "patient with juvenile cataract and TSC; juvenile cataract diagnosed at 23 months; patient has TSC2 c.2639+1G>A and missense variants in other genes - MECP2 c.802C>T and SPTAN1 c.5648A>G" "F" "?" "(United States)" "" "0" "" "" "" "2" "00305221" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305222" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308727" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" "00374836" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2607" "00374864" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4405" "00374865" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3079" "00381296" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "172283" "00391874" "" "" "" "1" "" "02494" "" "" "F" "no" "Spain" "" "" "" "" "" "108P" "00427806" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29314583}" "family, 1 affected, unaffected carrier father" "M" "" "China" "" "0" "" "" "" "Pat105" "00438339" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat57" "00438354" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "F" "" "China" "" "0" "" "" "" "Pat72" "00438388" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat107" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 56 "{{individualid}}" "{{diseaseid}}" "00000209" "01157" "00019861" "00139" "00029649" "01451" "00050465" "00198" "00050522" "00198" "00050572" "00198" "00116832" "00000" "00116838" "00000" "00116848" "00000" "00116849" "00000" "00116868" "00000" "00116873" "00000" "00116875" "00000" "00116894" "00000" "00116903" "00000" "00116919" "00000" "00116931" "00000" "00116940" "00000" "00116946" "00000" "00116963" "00000" "00116996" "00000" "00117012" "00000" "00117015" "00000" "00117017" "00000" "00117025" "05315" "00117030" "05315" "00117034" "05315" "00117050" "00000" "00117054" "05315" "00117055" "05315" "00117057" "05315" "00117070" "05315" "00117078" "05315" "00117085" "05315" "00117086" "05315" "00150163" "00198" "00177014" "00344" "00227813" "00281" "00227814" "00281" "00227815" "00281" "00294748" "00198" "00294750" "00198" "00294752" "00198" "00300570" "05330" "00305221" "00198" "00305222" "00198" "00308727" "00000" "00374836" "00198" "00374864" "00198" "00374865" "00198" "00381296" "03342" "00391874" "03342" "00427806" "04270" "00438339" "04270" "00438354" "04270" "00438388" "04270" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 00281, 00344, 01157, 01451, 03342, 04270, 05315, 05330 ## Count = 30 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Development/Cognition}}" "{{Phenotype/Seizures}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/TSC}}" "{{Phenotype/Development_delay_global/HPO_0001263}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000017592" "00139" "00019861" "00705" "Unknown" "?" "neonatal feeding problems, hip dysplasia, ID (IQ 50), autism, epicanthic folds, straight eyebrows, posteriorly rotated ears and downturned corners of the mouth; MRI of brain not available; no epilepsy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025672" "01451" "00029649" "00006" "Familial, autosomal dominant" "" "see paper; cervical/axial dystonia at\r\nrest, writer’s cramp, action-induced foot dystonia with walking, myoclonic jerks legs/arms, increasing with action, positive effect of alcohol on jerks, complaints of hyperventilation or panic attacks; high-frequency continuous myoclonus legs while standing, causing unsteadiness; 3/5 cases cardiac arrhythmias, attacks of painful cramps upper/lower limbs" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000037077" "00198" "00050465" "00006" "Isolated (sporadic)" "" "ataxia, specific learning disability, hypermetropia, single transverse palmar crease, long hallux, neutropenia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000037134" "00198" "00050522" "00006" "Unknown" "" "cerebellar hypoplasia, frequent falls, intention tremor, ataxia, motor delay, insulin-dependent but ketosis-resistant diabetes" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000037184" "00198" "00050572" "00006" "Isolated (sporadic)" "" "global developmental delay, delayed speech and language development, generalized tonic-clonic seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "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" "" "" "" "" "" "" "" "" "" "" "" "" "0000092282" "05315" "00117030" "02192" "Unknown" "" "atypical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092285" "05315" "00117085" "02192" "Unknown" "" "atypical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092297" "05315" "00117025" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092303" "05315" "00117034" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092318" "05315" "00117054" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092319" "05315" "00117055" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092320" "05315" "00117057" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092333" "05315" "00117070" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092340" "05315" "00117078" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092347" "05315" "00117086" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000122565" "00198" "00150163" "00006" "Familial, autosomal dominant" "" "intellectual diability, microcephaly, cerebellar atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000141831" "00344" "00177014" "02552" "Familial, X-linked recessive" "" "HP:0001252\r\nHP:0002509\r\nHP:0001266\r\nHP:0000219\r\nHP:0002705\r\nHP:000319\r\nHP:0000286\r\nHP:0000494\r\nHP:0000508\r\nHP:0011359\r\nHP:0100798" "01y00m" "" "" "" "" "" "" "" "" "" "" "" "" "Snyder-Robinson syndrome" "" "" "0000171835" "00281" "00227813" "00000" "Unknown" "" "slight psychomotor development with eye contact, no head control" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset epileptic encephalopathy" "" "0000171836" "00281" "00227814" "00000" "-" "" "severe spastic quadriplegia, no developmental progress, and poor visual attention." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "West syndrome, early onset" "" "0000171837" "00281" "00227815" "00000" "-" "" "severe spastic quadriplegia, no developmental progress, and poor visual attention." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "West syndrome, early onset" "" "0000227877" "05330" "00300570" "00596" "Unknown" "" "anterior subcapsular cortical cataract at 5 months; bilateral multiple retinal achromic patches; amblyopia (HP:0000646); retinal astrocytic hamartoma (HP:0012778); 2y6m-onset seizures" "" "" "seizures" "2y6m" "" "" "spasm;cortical tubers;nodules;retinal achromatic patch" "" "" "" "" "" "" "TSC-2" "tuberous sclerosis" "" "0000270046" "00198" "00374836" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000270074" "00198" "00374864" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "epilepsy, ataxia" "" "0000270075" "00198" "00374865" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000275147" "03342" "00381296" "01164" "Isolated (sporadic)" "" "Febrile seizure (within the age range of 3 months to 6 years), Simple febrile seizure, Global developmental delay, Motor delay, Delayed speech and language development, Impaired social interactions, Poor eye contact, Ataxia, Abnormality of coordination, Short attention span, Diminished ability to concentrate, Muscular hypotonia, Intellectual disability, Intellectual disability, borderline, Behavioral abnormality, Joint hypermobility, EEG abnormality, Impulsivity, Disinhibition, Impaired social interactions" "00y03m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000318780" "04270" "00427806" "00006" "Unknown" "5y" "intellectual disability; spasms, tonic, myoclonic, frequency 4-5/d; EEG multifocal discharges; MRI brain nonspecific; resistant to antiepileptic drugs" "5m" "" "" "" "" "" "" "" "" "" "" "" "" "" "West syndrome" "" "0000328243" "04270" "00438339" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0007668 impaired pursuit initiation and maintenance" "6m" "" "" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000328258" "04270" "00438354" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0012469 infantile spasms" "6m" "" "" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000328292" "04270" "00438388" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures" "26y" "" "" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 56 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000019852" "00019861" "1" "00705" "00705" "2014-09-08 10:27:49" "00006" "2014-11-07 21:46:41" "SEQ" "DNA" "" "" "0000029692" "00029649" "1" "00006" "00006" "2015-01-24 17:58:59" "00006" "2015-01-24 18:35:12" "SEQ;SEQ-NG" "DNA" "" "" "0000050410" "00050465" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050467" "00050522" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050517" "00050572" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000117264" "00117030" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117267" "00117085" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117300" "00116832" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117306" "00116838" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117316" "00116848" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117317" "00116849" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117336" "00116868" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117341" "00116873" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117343" "00116875" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117362" "00116894" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117371" "00116903" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117387" "00116919" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117399" "00116931" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117408" "00116940" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117414" "00116946" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117431" "00116963" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117464" "00116996" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117480" "00117012" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117483" "00117015" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117485" "00117017" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117490" "00117050" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117508" "00117025" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117514" "00117034" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117529" "00117054" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117530" "00117055" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117531" "00117057" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117544" "00117070" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117551" "00117078" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117558" "00117086" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000151018" "00150163" "1" "00006" "00006" "2018-01-13 12:41:38" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000177906" "00177014" "1" "02552" "02552" "2018-08-16 11:53:07" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000228902" "00227813" "1" "00000" "00006" "2011-06-24 19:21:43" "00008" "2019-03-12 14:44:26" "arrayCGH;SEQ" "DNA" "" "" "0000228903" "00227814" "1" "00000" "00006" "2010-07-22 11:56:06" "" "" "SEQ" "DNA" "" "" "0000228904" "00227815" "1" "00000" "00006" "2010-07-22 11:56:06" "" "" "SEQ" "DNA" "" "" "0000295916" "00294748" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295918" "00294750" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295920" "00294752" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000301691" "00300570" "1" "00596" "00596" "2020-05-03 10:03:19" "" "" "SEQ" "DNA" "Blood" "" "0000306350" "00305221" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306351" "00305222" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309872" "00308727" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES" "0000376030" "00374836" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000376058" "00374864" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000376059" "00374865" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000382511" "00381296" "1" "01164" "01164" "2021-08-27 13:17:04" "" "" "SEQ-NG-I" "DNA" "" "" "0000393116" "00391874" "1" "02494" "02494" "2021-11-19 13:14:51" "" "" "SEQ-NG" "DNA" "" "WES" "0000429129" "00427806" "1" "00006" "00006" "2022-12-13 13:20:24" "" "" "SEQ;SEQ-NG" "DNA" "" "target gene panel" "0000439821" "00438339" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000439836" "00438354" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000439870" "00438388" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{geneid}}" "0000019852" "DSP" "0000019852" "PTPN21" "0000019852" "SPTAN1" "0000029692" "CACNA1B" "0000029692" "SPTAN1" "0000029692" "VPS13D" "0000050410" "SPTAN1" "0000050467" "SPTAN1" "0000050517" "SPTAN1" "0000151018" "SPTAN1" "0000228902" "SPTAN1" "0000228903" "SPTAN1" "0000228904" "SPTAN1" "0000301691" "MECP2" "0000301691" "SPTAN1" "0000301691" "TSC2" "0000309872" "SPTAN1" "0000376030" "SCN1B" "0000376058" "SPTAN1" "0000376059" "SPTAN1" "0000382511" "SPTAN1" ## 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 = 262 "{{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}}" "0000012731" "0" "30" "9" "131390441" "131390441" "subst" "0" "00037" "SPTAN1_000004" "g.131390441G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.128628162G>A" "" "likely benign" "" "0000040314" "0" "90" "9" "131331084" "131331084" "subst" "0" "00705" "SPTAN1_000006" "g.131331084G>A" "" "{PMID:Gilissen 2014:24896178}" "" "" "" "De novo" "" "" "0" "" "" "g.128568805G>A" "" "pathogenic" "" "0000053076" "1" "70" "9" "131378070" "131378070" "subst" "1.2185E-5" "00006" "SPTAN1_000005" "g.131378070C>T" "" "{PMID:Groen 2015:25296916}" "" "" "not associated to phenotype; not in 1520 control chromosomes" "Germline" "" "rs371055930" "0" "" "" "g.128615791C>T" "" "likely pathogenic" "" "0000079390" "0" "90" "9" "131371493" "131375955" "del" "0" "00006" "SPTAN1_000009" "g.131371493_131375955del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "g.128609214_128613676del" "" "pathogenic" "" "0000079447" "0" "90" "9" "131388821" "131388821" "subst" "0" "00006" "SPTAN1_000007" "g.131388821C>G" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.128626542C>G" "" "pathogenic" "" "0000079497" "0" "90" "9" "131342955" "131346014" "del" "0" "00006" "SPTAN1_000008" "g.131342955_131346014del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "g.128580676_128583735del" "" "pathogenic" "" "0000188145" "0" "50" "9" "131353848" "131353848" "subst" "4.46733E-5" "02192" "SPTAN1_000014" "g.131353848G>T" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs374682395" "0" "" "" "g.128591569G>T" "" "VUS" "" "0000188151" "0" "50" "9" "131341997" "131341997" "subst" "0.00225496" "02192" "SPTAN1_000010" "g.131341997T>G" "6/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs144787939" "0" "" "" "g.128579718T>G" "" "VUS" "" "0000188161" "0" "50" "9" "131395165" "131395165" "subst" "0" "02192" "SPTAN1_000023" "g.131395165G>C" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.128632886G>C" "" "VUS" "" "0000188162" "0" "50" "9" "131367308" "131367308" "subst" "0.0014579" "02192" "SPTAN1_000017" "g.131367308T>G" "4/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs200543425" "0" "" "" "g.128605029T>G" "" "VUS" "" "0000188181" "0" "50" "9" "131341997" "131341997" "subst" "0.00225496" "02192" "SPTAN1_000010" "g.131341997T>G" "6/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs144787939" "0" "" "" "g.128579718T>G" "" "VUS" "" "0000188186" "0" "50" "9" "131370267" "131370267" "subst" "0.000580758" "02192" "SPTAN1_000018" "g.131370267C>G" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs143166100" "0" "" "" "g.128607988C>G" "" "VUS" "" "0000188188" "0" "50" "9" "131346769" "131346769" "subst" "4.06921E-6" "02192" "SPTAN1_000013" "g.131346769G>A" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.128584490G>A" "" "VUS" "" "0000188216" "0" "50" "9" "131341997" "131341997" "subst" "0.00225496" "02192" "SPTAN1_000010" "g.131341997T>G" "6/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs144787939" "0" "" "" "g.128579718T>G" "" "VUS" "" "0000188232" "0" "50" "9" "131353883" "131353883" "subst" "2.0315E-5" "02192" "SPTAN1_000015" "g.131353883G>A" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs368406599" "0" "" "" "g.128591604G>A" "" "VUS" "" "0000188244" "0" "50" "9" "131367308" "131367308" "subst" "0.0014579" "02192" "SPTAN1_000017" "g.131367308T>G" "4/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs200543425" "0" "" "" "g.128605029T>G" "" "VUS" "" "0000188253" "0" "50" "9" "131341997" "131341997" "subst" "0.00225496" "02192" "SPTAN1_000010" "g.131341997T>G" "6/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs144787939" "0" "" "" "g.128579718T>G" "" "VUS" "" "0000188259" "0" "50" "9" "131371507" "131371507" "subst" "0" "02192" "SPTAN1_000020" "g.131371507A>G" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.128609228A>G" "" "VUS" "" "0000188309" "0" "50" "9" "131395193" "131395193" "subst" "4.0838E-6" "02192" "SPTAN1_000024" "g.131395193T>A" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.128632914T>A" "" "VUS" "" "0000188328" "0" "50" "9" "131341997" "131341997" "subst" "0.00225496" "02192" "SPTAN1_000010" "g.131341997T>G" "6/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs144787939" "0" "" "" "g.128579718T>G" "" "VUS" "" "0000188338" "0" "50" "9" "131341997" "131341997" "subst" "0.00225496" "02192" "SPTAN1_000010" "g.131341997T>G" "4/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs144787939" "0" "" "" "g.128579718T>G" "" "VUS" "" "0000188343" "0" "50" "9" "131341997" "131341997" "subst" "0.00225496" "02192" "SPTAN1_000010" "g.131341997T>G" "4/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs144787939" "0" "" "" "g.128579718T>G" "" "VUS" "" "0000188363" "0" "50" "9" "131341997" "131341997" "subst" "0.00225496" "02192" "SPTAN1_000010" "g.131341997T>G" "6/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs144787939" "0" "" "" "g.128579718T>G" "" "VUS" "" "0000188368" "0" "50" "9" "131341997" "131341997" "subst" "0.00225496" "02192" "SPTAN1_000010" "g.131341997T>G" "4/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs144787939" "0" "" "" "g.128579718T>G" "" "VUS" "" "0000188370" "0" "50" "9" "131394497" "131394497" "subst" "4.06841E-6" "02192" "SPTAN1_000022" "g.131394497A>G" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.128632218A>G" "" "VUS" "" "0000188383" "0" "50" "9" "131341997" "131341997" "subst" "0.00225496" "02192" "SPTAN1_000010" "g.131341997T>G" "4/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs144787939" "0" "" "" "g.128579718T>G" "" "VUS" "" "0000188391" "0" "50" "9" "131367308" "131367308" "subst" "0.0014579" "02192" "SPTAN1_000017" "g.131367308T>G" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs200543425" "0" "" "" "g.128605029T>G" "" "VUS" "" "0000188399" "0" "50" "9" "131374071" "131374071" "subst" "0" "02192" "SPTAN1_000021" "g.131374071G>A" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.128611792G>A" "" "VUS" "" "0000188466" "0" "50" "9" "131367308" "131367308" "subst" "0.0014579" "02192" "SPTAN1_000017" "g.131367308T>G" "4/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs200543425" "0" "" "" "g.128605029T>G" "" "VUS" "" "0000188484" "0" "50" "9" "131344110" "131344110" "subst" "0.00115747" "02192" "SPTAN1_000011" "g.131344110C>T" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs148727077" "0" "" "" "g.128581831C>T" "" "VUS" "" "0000188505" "0" "50" "9" "131370294" "131370294" "subst" "9.34071E-5" "02192" "SPTAN1_000019" "g.131370294G>A" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.128608015G>A" "" "VUS" "" "0000188511" "0" "50" "9" "131367308" "131367308" "subst" "0.0014579" "02192" "SPTAN1_000017" "g.131367308T>G" "4/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs200543425" "0" "" "" "g.128605029T>G" "" "VUS" "" "0000188517" "0" "50" "9" "131370267" "131370267" "subst" "0.000580758" "02192" "SPTAN1_000018" "g.131370267C>G" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs143166100" "0" "" "" "g.128607988C>G" "" "VUS" "" "0000188525" "0" "50" "9" "131346591" "131346591" "subst" "2.84555E-5" "02192" "SPTAN1_000012" "g.131346591C>T" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.128584312C>T" "" "VUS" "" "0000188538" "0" "50" "9" "131366650" "131366650" "subst" "4.90557E-5" "02192" "SPTAN1_000016" "g.131366650C>T" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.128604371C>T" "" "VUS" "" "0000244177" "3" "90" "9" "131343207" "131343207" "subst" "0.005132" "00006" "SPTAN1_000025" "g.131343207G>A" "" "{PMID:Karaca 2015:26539891}" "" "NM_001195532: c.G1330A; p.V444I" "" "Germline" "" "" "0" "" "" "g.128580928G>A" "" "pathogenic" "" "0000248611" "0" "10" "9" "131346218" "131346218" "subst" "0.992933" "02325" "SPTAN1_000077" "g.131346218A>C" "" "" "" "SPTAN1(NM_001130438.3):c.2163A>C (p.A721=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128583939A>C" "" "benign" "" "0000248612" "0" "10" "9" "131375701" "131375701" "subst" "0.996641" "02325" "SPTAN1_000040" "g.131375701A>G" "" "" "" "SPTAN1(NM_001130438.3):c.5085A>G (p.L1695=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128613422A>G" "" "benign" "" "0000251438" "0" "10" "9" "131346309" "131346309" "subst" "0" "02326" "SPTAN1_000078" "g.131346309A>G" "" "" "" "SPTAN1(NM_001130438.2):c.2193+61A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128584030A>G" "" "benign" "" "0000251912" "0" "30" "9" "131355302" "131355302" "subst" "0" "02326" "SPTAN1_000026" "g.131355302A>G" "" "" "" "SPTAN1(NM_001130438.2):c.3196A>G (p.M1066V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128593023A>G" "" "likely benign" "" "0000311544" "0" "10" "9" "131346548" "131346548" "subst" "0.0022935" "02325" "SPTAN1_000079" "g.131346548T>G" "" "" "" "SPTAN1(NM_001130438.3):c.2194-13T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128584269T>G" "" "benign" "" "0000311545" "0" "50" "9" "131349940" "131349940" "subst" "8.12552E-6" "02325" "SPTAN1_000080" "g.131349940G>C" "" "" "" "SPTAN1(NM_001130438.3):c.2834G>C (p.S945T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128587661G>C" "" "VUS" "" "0000311546" "0" "10" "9" "131360750" "131360750" "subst" "0.804989" "02325" "SPTAN1_000032" "g.131360750C>T" "" "" "" "SPTAN1(NM_001130438.3):c.3486C>T (p.L1162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128598471C>T" "" "benign" "" "0000311547" "0" "30" "9" "131370267" "131370267" "subst" "0.000580758" "02325" "SPTAN1_000018" "g.131370267C>G" "" "" "" "SPTAN1(NM_001130438.2):c.4283C>G (p.A1428G), SPTAN1(NM_001130438.3):c.4283C>G (p.A1428G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128607988C>G" "" "likely benign" "" "0000311548" "0" "10" "9" "131370474" "131370474" "subst" "0.00130788" "02325" "SPTAN1_000037" "g.131370474C>T" "" "" "" "SPTAN1(NM_001130438.3):c.4410C>T (p.T1470=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128608195C>T" "" "benign" "" "0000311549" "0" "10" "9" "131379967" "131379967" "subst" "0.797634" "02325" "SPTAN1_000043" "g.131379967C>T" "" "" "" "SPTAN1(NM_001130438.3):c.5406C>T (p.T1802=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128617688C>T" "" "benign" "" "0000311550" "0" "30" "9" "131386654" "131386654" "subst" "1.21923E-5" "02325" "SPTAN1_000047" "g.131386654C>T" "" "" "" "SPTAN1(NM_001130438.3):c.5880C>T (p.N1960=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128624375C>T" "" "likely benign" "" "0000311551" "0" "30" "9" "131388888" "131388888" "subst" "0.00027301" "02325" "SPTAN1_000048" "g.131388888C>T" "" "" "" "SPTAN1(NM_001130438.2):c.6498C>T (p.R2166=), SPTAN1(NM_001130438.3):c.6498C>T (p.R2166=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128626609C>T" "" "likely benign" "" "0000311552" "0" "10" "9" "131388939" "131388939" "subst" "0.000994835" "02325" "SPTAN1_000049" "g.131388939C>A" "" "" "" "SPTAN1(NM_001130438.3):c.6549C>A (p.T2183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128626660C>A" "" "benign" "" "0000313990" "0" "10" "9" "131340535" "131340535" "subst" "0.00573936" "02326" "SPTAN1_000072" "g.131340535C>T" "" "" "" "SPTAN1(NM_001130438.2):c.1221+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128578256C>T" "" "benign" "" "0000313991" "0" "30" "9" "131341980" "131341980" "subst" "4.06217E-6" "02326" "SPTAN1_000073" "g.131341980C>T" "" "" "" "SPTAN1(NM_001130438.2):c.1286C>T (p.A429V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128579701C>T" "" "likely benign" "" "0000313992" "0" "30" "9" "131341997" "131341997" "subst" "0.00225496" "02326" "SPTAN1_000010" "g.131341997T>G" "" "" "" "SPTAN1(NM_001130438.2):c.1303T>G (p.S435A), SPTAN1(NM_001130438.3):c.1303T>G (p.S435A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128579718T>G" "" "likely benign" "" "0000313993" "0" "10" "9" "131343207" "131343207" "subst" "0.005132" "02326" "SPTAN1_000025" "g.131343207G>A" "" "" "" "SPTAN1(NM_001130438.2):c.1330G>A (p.(Val444Ile), p.V444I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128580928G>A" "" "benign" "" "0000313994" "0" "30" "9" "131343252" "131343252" "subst" "1.21947E-5" "02326" "SPTAN1_000074" "g.131343252C>T" "" "" "" "SPTAN1(NM_001130438.2):c.1375C>T (p.R459C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128580973C>T" "" "likely benign" "" "0000313995" "0" "30" "9" "131344110" "131344110" "subst" "0.00115747" "02326" "SPTAN1_000011" "g.131344110C>T" "" "" "" "SPTAN1(NM_001130438.2):c.1511C>T (p.A504V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128581831C>T" "" "likely benign" "" "0000313996" "0" "30" "9" "131345143" "131345143" "subst" "0.000175837" "02326" "SPTAN1_000075" "g.131345143G>T" "" "" "" "SPTAN1(NM_001130438.2):c.1806+15G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128582864G>T" "" "likely benign" "" "0000313997" "0" "30" "9" "131329218" "131329218" "subst" "0" "02326" "SPTAN1_000069" "g.131329218G>T" "" "" "" "SPTAN1(NM_001130438.2):c.199G>T (p.A67S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128566939G>T" "" "likely benign" "" "0000313998" "0" "10" "9" "131353641" "131353641" "subst" "0" "02326" "SPTAN1_000081" "g.131353641G>A" "" "" "" "SPTAN1(NM_001130438.2):c.3007-115G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128591362G>A" "" "benign" "" "0000313999" "0" "30" "9" "131353848" "131353848" "subst" "4.46733E-5" "02326" "SPTAN1_000014" "g.131353848G>T" "" "" "" "SPTAN1(NM_001130438.2):c.3099G>T (p.(Glu1033Asp), p.E1033D), SPTAN1(NM_001130438.3):c.3099G>T (p.E1033D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128591569G>T" "" "likely benign" "" "0000314000" "0" "30" "9" "131353883" "131353883" "subst" "2.0315E-5" "02326" "SPTAN1_000015" "g.131353883G>A" "" "" "" "SPTAN1(NM_001130438.2):c.3134G>A (p.R1045Q), SPTAN1(NM_001130438.3):c.3134G>A (p.R1045Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128591604G>A" "" "likely benign" "" "0000314001" "0" "10" "9" "131360567" "131360567" "del" "0" "02326" "SPTAN1_000030" "g.131360567del" "" "" "" "SPTAN1(NM_001130438.2):c.3415-112delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128598288del" "" "benign" "" "0000314002" "0" "10" "9" "131360565" "131360565" "del" "0" "02326" "SPTAN1_000029" "g.131360565del" "" "" "" "SPTAN1(NM_001130438.2):c.3415-114delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128598286del" "" "benign" "" "0000314004" "0" "10" "9" "131360564" "131360565" "del" "0" "02326" "SPTAN1_000028" "g.131360564_131360565del" "" "" "" "SPTAN1(NM_001130438.2):c.3415-115_3415-114delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128598285_128598286del" "" "benign" "" "0000314005" "0" "10" "9" "131360524" "131360524" "subst" "0" "02326" "SPTAN1_000027" "g.131360524C>T" "" "" "" "SPTAN1(NM_001130438.2):c.3415-155C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128598245C>T" "" "benign" "" "0000314006" "0" "30" "9" "131361228" "131361228" "subst" "0.00149856" "02326" "SPTAN1_000033" "g.131361228C>G" "" "" "" "SPTAN1(NM_001130438.2):c.3520-14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128598949C>G" "" "likely benign" "" "0000314007" "0" "30" "9" "131367309" "131367309" "subst" "0" "02326" "SPTAN1_000034" "g.131367309T>A" "" "" "" "SPTAN1(NM_001130438.2):c.3720-4T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128605030T>A" "" "likely benign" "" "0000314008" "0" "30" "9" "131367308" "131367308" "subst" "0.0014579" "02326" "SPTAN1_000017" "g.131367308T>G" "" "" "" "SPTAN1(NM_001130438.2):c.3720-5T>G, SPTAN1(NM_001363759.1):c.3720-5T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128605029T>G" "" "likely benign" "" "0000314009" "0" "30" "9" "131367651" "131367651" "subst" "4.06253E-6" "02326" "SPTAN1_000035" "g.131367651G>A" "" "" "" "SPTAN1(NM_001130438.2):c.3941G>A (p.(Cys1314Tyr), p.C1314Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128605372G>A" "" "likely benign" "" "0000314010" "0" "50" "9" "131369980" "131369980" "subst" "0" "02326" "SPTAN1_000036" "g.131369980C>A" "" "" "" "SPTAN1(NM_001130438.2):c.4144C>A (p.Q1382K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128607701C>A" "" "VUS" "" "0000314011" "0" "30" "9" "131370267" "131370267" "subst" "0.000580758" "02326" "SPTAN1_000018" "g.131370267C>G" "" "" "" "SPTAN1(NM_001130438.2):c.4283C>G (p.A1428G), SPTAN1(NM_001130438.3):c.4283C>G (p.A1428G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128607988C>G" "" "likely benign" "" "0000314012" "0" "30" "9" "131371396" "131371396" "subst" "0" "02326" "SPTAN1_000038" "g.131371396T>G" "" "" "" "SPTAN1(NM_001130438.2):c.4596-5T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128609117T>G" "" "likely benign" "" "0000314013" "0" "10" "9" "131378235" "131378235" "subst" "0" "02326" "SPTAN1_000042" "g.131378235T>G" "" "" "" "SPTAN1(NM_001130438.2):c.5357+116T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128615956T>G" "" "benign" "" "0000314014" "0" "30" "9" "131380051" "131380051" "subst" "0.000599256" "02326" "SPTAN1_000044" "g.131380051G>A" "" "" "" "SPTAN1(NM_001130438.2):c.5478+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128617772G>A" "" "likely benign" "" "0000314015" "0" "30" "9" "131380339" "131380339" "subst" "0.000973532" "02326" "SPTAN1_000045" "g.131380339C>T" "" "" "" "SPTAN1(NM_001130438.2):c.5552C>T (p.A1851V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128618060C>T" "" "likely benign" "" "0000314016" "0" "10" "9" "131383591" "131383591" "subst" "0" "02326" "SPTAN1_000046" "g.131383591G>T" "" "" "" "SPTAN1(NM_001130438.2):c.5832+56G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128621312G>T" "" "benign" "" "0000314017" "0" "30" "9" "131339096" "131339096" "subst" "0.00106434" "02326" "SPTAN1_000070" "g.131339096G>A" "" "" "" "SPTAN1(NM_001130438.2):c.652-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128576817G>A" "" "likely benign" "" "0000314018" "0" "30" "9" "131388977" "131388977" "subst" "0" "02326" "SPTAN1_000050" "g.131388977C>G" "" "" "" "SPTAN1(NM_001130438.2):c.6576+11C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128626698C>G" "" "likely benign" "" "0000314020" "0" "30" "9" "131389713" "131389713" "subst" "0" "02326" "SPTAN1_000052" "g.131389713G>A" "" "" "" "SPTAN1(NM_001130438.2):c.6625G>A (p.D2209N), SPTAN1(NM_001130438.3):c.6625G>A (p.D2209N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128627434G>A" "" "likely benign" "" "0000314021" "0" "10" "9" "131392593" "131392593" "subst" "0.00474284" "02326" "SPTAN1_000053" "g.131392593C>T" "" "" "" "SPTAN1(NM_001130438.2):c.6708-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128630314C>T" "" "benign" "" "0000314022" "0" "10" "9" "131395568" "131395568" "subst" "0.00587098" "02326" "SPTAN1_000055" "g.131395568C>T" "" "" "" "SPTAN1(NM_001130438.2):c.7389C>T (p.T2463=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128633289C>T" "" "benign" "" "0000314023" "0" "70" "9" "131339539" "131339539" "subst" "0" "02326" "SPTAN1_000071" "g.131339539C>T" "" "" "" "SPTAN1(NM_001130438.2):c.917C>T (p.A306V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128577260C>T" "" "likely pathogenic" "" "0000315646" "0" "50" "9" "131345368" "131345368" "subst" "0" "01943" "SPTAN1_000076" "g.131345368C>A" "" "" "" "SPTAN1(NM_001130438.2):c.1819C>A (p.L607I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128583089C>A" "" "VUS" "" "0000315647" "0" "50" "9" "131355273" "131355273" "subst" "0" "01943" "SPTAN1_000082" "g.131355273C>T" "" "" "" "SPTAN1(NM_001130438.2):c.3167C>T (p.T1056I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128592994C>T" "" "VUS" "" "0000315648" "0" "50" "9" "131360724" "131360724" "subst" "0" "01943" "SPTAN1_000031" "g.131360724G>A" "" "" "" "SPTAN1(NM_001130438.2):c.3460G>A (p.A1154T), SPTAN1(NM_001130438.3):c.3460G>A (p.A1154T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128598445G>A" "" "VUS" "" "0000315649" "0" "30" "9" "131375656" "131375656" "subst" "8.52958E-5" "01943" "SPTAN1_000039" "g.131375656C>T" "" "" "" "SPTAN1(NM_001130438.2):c.5044-4C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128613377C>T" "" "likely benign" "" "0000315650" "0" "50" "9" "131377986" "131377986" "subst" "4.06141E-6" "01943" "SPTAN1_000041" "g.131377986G>A" "" "" "" "SPTAN1(NM_001130438.2):c.5224G>A (p.D1742N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128615707G>A" "" "VUS" "" "0000315651" "0" "30" "9" "131394400" "131394400" "subst" "0.000168296" "01943" "SPTAN1_000054" "g.131394400C>A" "" "" "" "SPTAN1(NM_001130438.2):c.6763-6C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128632121C>A" "" "likely benign" "" "0000339395" "0" "10" "9" "131360750" "131360750" "subst" "0.804989" "02327" "SPTAN1_000032" "g.131360750C>T" "" "" "" "SPTAN1(NM_001130438.3):c.3486C>T (p.L1162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128598471C>T" "" "benign" "" "0000339396" "0" "10" "9" "131379967" "131379967" "subst" "0.797634" "02327" "SPTAN1_000043" "g.131379967C>T" "" "" "" "SPTAN1(NM_001130438.3):c.5406C>T (p.T1802=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128617688C>T" "" "benign" "" "0000341123" "0" "50" "9" "131360688" "131360688" "subst" "0" "02327" "SPTAN1_000060" "g.131360688G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128598409G>T" "" "VUS" "" "0000341914" "0" "30" "9" "131370263" "131370263" "subst" "1.62454E-5" "02327" "SPTAN1_000062" "g.131370263C>T" "" "" "" "SPTAN1(NM_001130438.2):c.4279C>T (p.(Arg1427Cys)), SPTAN1(NM_001130438.3):c.4279C>T (p.R1427C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128607984C>T" "" "likely benign" "" "0000342290" "0" "90" "9" "131389698" "131389698" "subst" "0" "02327" "SPTAN1_000067" "g.131389698C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128627419C>T" "" "pathogenic" "" "0000343551" "0" "30" "9" "131353850" "131353850" "subst" "2.8428E-5" "02327" "SPTAN1_000059" "g.131353850A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128591571A>G" "" "likely benign" "" "0000344644" "0" "50" "9" "131388081" "131388081" "subst" "8.12427E-6" "02327" "SPTAN1_000066" "g.131388081C>G" "" "" "" "SPTAN1(NM_001130438.2):c.6103C>G (p.(Gln2035Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128625802C>G" "" "VUS" "" "0000344681" "0" "90" "9" "131394589" "131394589" "subst" "0" "02327" "SPTAN1_000068" "g.131394589C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128632310C>G" "" "pathogenic" "" "0000345180" "0" "50" "9" "131375741" "131375741" "subst" "0" "02327" "SPTAN1_000064" "g.131375741G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128613462G>A" "" "VUS" "" "0000347345" "0" "50" "9" "131349889" "131349889" "subst" "0" "02327" "SPTAN1_000058" "g.131349889T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128587610T>A" "" "VUS" "" "0000347437" "0" "50" "9" "131375694" "131375694" "subst" "0" "02327" "SPTAN1_000063" "g.131375694A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128613415A>G" "" "VUS" "" "0000349144" "0" "50" "9" "131346163" "131346163" "subst" "0" "02327" "SPTAN1_000056" "g.131346163C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128583884C>T" "" "VUS" "" "0000350269" "0" "50" "9" "131367576" "131367576" "subst" "0" "02327" "SPTAN1_000061" "g.131367576T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128605297T>G" "" "VUS" "" "0000350885" "0" "30" "9" "131379970" "131379970" "subst" "1.21858E-5" "02327" "SPTAN1_000065" "g.131379970C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128617691C>T" "" "likely benign" "" "0000400808" "11" "30" "9" "131331042" "131331042" "subst" "8.12401E-6" "00006" "SPTAN1_000083" "g.131331042C>T" "" "{PMID:Abela 2016:26174906}" "" "" "" "Germline" "" "" "0" "" "" "g.128568763C>T" "" "likely benign" "" "0000469164" "1" "95" "9" "131314949" "131395833" "" "0" "00000" "SPTAN1_000001" "g.(?_131314949)_(131395833_?)del" "" "{PMID:Saitsu 2010:20493457}, {PMID:Saitsu 2008:18469812}" "" "" "complex rearrangement (2.25 Mb deletion, 204 Kb inversion) involving 46 genes" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000469165" "1" "95" "9" "131389707" "131389709" "del" "0" "00000" "SPTAN1_000002" "g.131389707_131389709del" "" "{PMID:Saitsu 2010:20493457}, {OMIM182810:0001}" "" "" "not in 500 control chromosomes" "De novo" "" "" "0" "" "" "g.128627428_128627430del" "" "pathogenic" "" "0000469166" "1" "95" "9" "131394566" "131394571" "dup" "0" "00000" "SPTAN1_000003" "g.131394566_131394571dup" "" "{PMID:Saitsu 2010:20493457}, {OMIM182810:0002}" "" "" "not in 500 control chromosomes" "De novo" "" "" "0" "" "" "g.128632287_128632292dup" "" "pathogenic" "" "0000536400" "0" "50" "9" "131329209" "131329209" "subst" "0" "02327" "WDR34_000003" "g.131329209C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128566930C>T" "" "VUS" "" "0000536401" "0" "50" "9" "131331096" "131331096" "subst" "0" "01804" "WDR34_000004" "g.131331096A>G" "" "" "" "SPTAN1(NM_001130438.2):c.283A>G (p.(Asn95Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128568817A>G" "" "VUS" "" "0000536402" "0" "30" "9" "131351096" "131351096" "subst" "0.000333114" "02326" "WDR34_000005" "g.131351096G>A" "" "" "" "SPTAN1(NM_001130438.2):c.2880G>A (p.V960=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128588817G>A" "" "likely benign" "" "0000536403" "0" "50" "9" "131351178" "131351178" "subst" "0" "02327" "WDR34_000006" "g.131351178A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128588899A>G" "" "VUS" "" "0000536404" "0" "30" "9" "131355264" "131355264" "subst" "0" "01804" "WDR34_000007" "g.131355264C>T" "" "" "" "SPTAN1(NM_001130438.2):c.3158C>T (p.(Thr1053Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128592985C>T" "" "likely benign" "" "0000536405" "0" "50" "9" "131367612" "131367612" "subst" "0" "02327" "WDR34_000008" "g.131367612A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128605333A>G" "" "VUS" "" "0000536406" "0" "30" "9" "131367622" "131367622" "subst" "0.000255977" "02326" "WDR34_000009" "g.131367622C>T" "" "" "" "SPTAN1(NM_001130438.2):c.3912C>T (p.P1304=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128605343C>T" "" "likely benign" "" "0000536409" "0" "30" "9" "131370236" "131370236" "subst" "0" "01804" "WDR34_000010" "g.131370236C>A" "" "" "" "SPTAN1(NM_001130438.2):c.4252C>A (p.(Gln1418Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128607957C>A" "" "likely benign" "" "0000536410" "0" "30" "9" "131370241" "131370241" "subst" "0" "01943" "WDR34_000011" "g.131370241A>G" "" "" "" "SPTAN1(NM_001130438.2):c.4257A>G (p.K1419=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128607962A>G" "" "likely benign" "" "0000536411" "0" "50" "9" "131370263" "131370263" "subst" "1.62454E-5" "01804" "SPTAN1_000062" "g.131370263C>T" "" "" "" "SPTAN1(NM_001130438.2):c.4279C>T (p.(Arg1427Cys)), SPTAN1(NM_001130438.3):c.4279C>T (p.R1427C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128607984C>T" "" "VUS" "" "0000536412" "0" "50" "9" "131371507" "131371507" "subst" "0" "01943" "SPTAN1_000020" "g.131371507A>G" "" "" "" "SPTAN1(NM_001130438.2):c.4702A>G (p.S1568G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128609228A>G" "" "VUS" "" "0000536413" "0" "50" "9" "131374047" "131374047" "subst" "0" "01943" "WDR34_000012" "g.131374047C>T" "" "" "" "SPTAN1(NM_001130438.2):c.4828C>T (p.R1610W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128611768C>T" "" "VUS" "" "0000536414" "0" "10" "9" "131375701" "131375701" "subst" "0.996641" "02327" "SPTAN1_000040" "g.131375701A>G" "" "" "" "SPTAN1(NM_001130438.3):c.5085A>G (p.L1695=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128613422A>G" "" "benign" "" "0000536415" "0" "50" "9" "131375752" "131375752" "subst" "0" "02327" "WDR34_000013" "g.131375752A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128613473A>G" "" "VUS" "" "0000536416" "0" "50" "9" "131379968" "131379968" "subst" "0" "02327" "WDR34_000014" "g.131379968G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128617689G>A" "" "VUS" "" "0000536417" "0" "10" "9" "131386699" "131386699" "subst" "0.00202016" "02325" "WDR34_000015" "g.131386699G>A" "" "" "" "SPTAN1(NM_001130438.3):c.5925G>A (p.A1975=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128624420G>A" "" "benign" "" "0000536418" "0" "50" "9" "131388869" "131388869" "subst" "2.03386E-5" "02327" "WDR34_000016" "g.131388869G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128626590G>A" "" "VUS" "" "0000536419" "0" "10" "9" "131389060" "131389061" "ins" "0" "02326" "WDR34_000017" "g.131389060_131389061insAA" "" "" "" "SPTAN1(NM_001130438.2):c.6576+94_6576+95insAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128626781_128626782insAA" "" "benign" "" "0000536421" "0" "30" "9" "131395078" "131395078" "subst" "0.000345663" "02326" "WDR34_000019" "g.131395078C>T" "" "" "" "SPTAN1(NM_001130438.2):c.7161-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128632799C>T" "" "likely benign" "" "0000536422" "0" "30" "9" "131395571" "131395571" "subst" "0.000349437" "02325" "WDR34_000020" "g.131395571G>A" "" "" "" "SPTAN1(NM_001130438.2):c.7392G>A (p.A2464=), SPTAN1(NM_001130438.3):c.7392G>A (p.A2464=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128633292G>A" "" "likely benign" "" "0000536423" "0" "30" "9" "131396267" "131396268" "del" "8.28391E-6" "01943" "WDR34_000021" "g.131396267_131396268del" "" "" "" "WDR34(NM_052844.3):c.1373-6_1373-5delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128633988_128633989del" "" "likely benign" "" "0000536424" "0" "30" "9" "131396519" "131396519" "subst" "8.13015E-6" "01804" "WDR34_000022" "g.131396519G>A" "" "" "" "WDR34(NM_052844.3):c.1358C>T (p.(Ala453Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128634240G>A" "" "likely benign" "" "0000536425" "0" "50" "9" "131396538" "131396538" "subst" "1.62546E-5" "01804" "WDR34_000023" "g.131396538G>A" "" "" "" "WDR34(NM_052844.3):c.1339C>T (p.(Arg447Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128634259G>A" "" "VUS" "" "0000536426" "0" "70" "9" "131396618" "131396621" "dup" "0" "01943" "WDR34_000024" "g.131396618_131396621dup" "" "" "" "WDR34(NM_052844.3):c.1256_1259dupTGTA (p.S421Vfs*40)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128634339_128634342dup" "" "likely pathogenic" "" "0000536427" "0" "50" "9" "131397116" "131397116" "subst" "0.0039643" "01943" "WDR34_000025" "g.131397116C>T" "" "" "" "WDR34(NM_052844.3):c.1066G>A (p.G356S, p.(Gly356Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128634837C>T" "" "VUS" "" "0000536428" "0" "30" "9" "131397116" "131397116" "subst" "0.0039643" "01804" "WDR34_000025" "g.131397116C>T" "" "" "" "WDR34(NM_052844.3):c.1066G>A (p.G356S, p.(Gly356Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128634837C>T" "" "likely benign" "" "0000536429" "0" "30" "9" "131397367" "131397367" "subst" "0.00011967" "01804" "WDR34_000026" "g.131397367G>A" "" "" "" "WDR34(NM_052844.4):c.981+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128635088G>A" "" "likely benign" "" "0000536430" "0" "10" "9" "131398647" "131398647" "subst" "0.00325697" "01804" "WDR34_000027" "g.131398647G>A" "" "" "" "WDR34(NM_052844.3):c.616C>T (p.(Arg206Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128636368G>A" "" "benign" "" "0000536431" "0" "50" "9" "131398695" "131398695" "subst" "0" "01943" "WDR34_000028" "g.131398695T>C" "" "" "" "WDR34(NM_052844.3):c.568A>G (p.T190A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128636416T>C" "" "VUS" "" "0000536432" "0" "30" "9" "131403221" "131403221" "subst" "0.0160247" "01804" "WDR34_000029" "g.131403221G>T" "" "" "" "WDR34(NM_052844.3):c.187-3C>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128640942G>T" "" "likely benign" "" "0000536435" "0" "30" "9" "131418941" "131418941" "subst" "0.00464701" "01804" "WDR34_000032" "g.131418941G>A" "" "" "" "WDR34(NM_052844.3):c.65C>T (p.(Ala22Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128656662G>A" "" "likely benign" "" "0000611882" "0" "30" "9" "131369869" "131369869" "subst" "8.12282E-6" "02326" "WDR34_000034" "g.131369869G>A" "" "" "" "SPTAN1(NM_001130438.2):c.4047-14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128607590G>A" "" "likely benign" "" "0000611883" "0" "30" "9" "131375656" "131375656" "subst" "8.52958E-5" "02326" "SPTAN1_000039" "g.131375656C>T" "" "" "" "SPTAN1(NM_001130438.2):c.5044-4C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128613377C>T" "" "likely benign" "" "0000611885" "0" "50" "9" "131396153" "131396153" "subst" "1.22251E-5" "01804" "WDR34_000036" "g.131396153T>C" "" "" "" "WDR34(NM_052844.3):c.1481A>G (p.(Gln494Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128633874T>C" "" "VUS" "" "0000611886" "0" "50" "9" "131398680" "131398680" "subst" "5.43974E-5" "01943" "WDR34_000038" "g.131398680C>T" "" "" "" "WDR34(NM_052844.3):c.583G>A (p.V195M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128636401C>T" "" "VUS" "" "0000622170" "0" "30" "9" "131348264" "131348264" "subst" "0.000159628" "02326" "WDR34_000033" "g.131348264G>A" "" "" "" "SPTAN1(NM_001130438.2):c.2778+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128585985G>A" "" "likely benign" "" "0000622171" "0" "30" "9" "131396530" "131396530" "subst" "2.03212E-5" "01943" "WDR34_000037" "g.131396530C>T" "" "" "" "WDR34(NM_052844.3):c.1347G>A (p.L449=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128634251C>T" "" "likely benign" "" "0000652605" "1" "50" "9" "131343253" "131343253" "subst" "4.87757E-5" "03575" "SPTAN1_000084" "g.131343253G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs201948749}" "Germline" "" "rs201948749" "0" "" "" "g.128580974G>A" "" "VUS" "" "0000652607" "1" "50" "9" "131369911" "131369911" "subst" "3.24884E-5" "03575" "SPTAN1_000085" "g.131369911C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs150944593}" "Germline" "" "rs150944593" "0" "" "" "g.128607632C>T" "" "VUS" "" "0000652609" "1" "30" "9" "131395768" "131395768" "subst" "0" "03575" "SPTAN1_000086" "g.131395768G>A" "211/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "211 heterozygous; {DB:CLININrs11543348}" "Germline" "" "rs11543348" "0" "" "" "g.128633489G>A" "" "likely benign" "" "0000656236" "0" "30" "9" "131375656" "131375656" "subst" "8.52958E-5" "01804" "SPTAN1_000039" "g.131375656C>T" "" "" "" "SPTAN1(NM_001130438.2):c.5044-4C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128613377C>T" "" "likely benign" "" "0000656237" "0" "30" "9" "131388248" "131388248" "subst" "1.21876E-5" "01943" "WDR34_000040" "g.131388248C>T" "" "" "" "SPTAN1(NM_001363759.1):c.6270C>T (p.H2090=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128625969C>T" "" "likely benign" "" "0000656238" "0" "50" "9" "131395569" "131395569" "subst" "7.31374E-5" "02325" "WDR34_000041" "g.131395569G>A" "" "" "" "SPTAN1(NM_001130438.2):c.7390G>A (p.A2464T), SPTAN1(NM_001130438.3):c.7390G>A (p.A2464T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128633290G>A" "" "VUS" "" "0000656239" "0" "30" "9" "131396135" "131396135" "subst" "0.000379016" "01943" "WDR34_000002" "g.131396135G>A" "" "" "" "WDR34(NM_052844.3):c.1499C>T (p.A500V, p.(Ala500Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128633856G>A" "" "likely benign" "" "0000664723" "0" "50" "9" "131381197" "131381197" "subst" "0.00014213" "00596" "SPTAN1_000087" "g.131381197A>G" "" "{PMID:Geffrey, 2020:32340510}" "" "" "" "Germline" "?" "" "0" "" "" "g.128618918A>G" "" "VUS" "" "0000670038" "3" "30" "9" "131379998" "131379998" "subst" "0.0243921" "03575" "SPTAN1_000088" "g.131379998C>A" "4/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 homozygous; {DB:CLININrs3750333}" "Germline" "" "rs3750333" "0" "" "" "g.128617719C>A" "" "likely benign" "" "0000670039" "3" "30" "9" "131395768" "131395768" "subst" "0" "03575" "SPTAN1_000086" "g.131395768G>A" "6/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 homozygous; {DB:CLININrs11543348}" "Germline" "" "rs11543348" "0" "" "" "g.128633489G>A" "" "likely benign" "" "0000678537" "0" "50" "9" "131344816" "131344816" "subst" "0" "01943" "WDR34_000042" "g.131344816T>G" "" "" "" "SPTAN1(NM_001363759.1):c.1631T>G (p.V544G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678538" "0" "50" "9" "131345114" "131345114" "subst" "0" "01943" "WDR34_000043" "g.131345114G>C" "" "" "" "SPTAN1(NM_001363759.1):c.1792G>C (p.D598H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678539" "0" "30" "9" "131348076" "131348076" "subst" "0.000524288" "01943" "WDR34_000044" "g.131348076A>G" "" "" "" "SPTAN1(NM_001363759.1):c.2610A>G (p.Q870=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678540" "0" "30" "9" "131371197" "131371197" "subst" "0.000292857" "02326" "WDR34_000045" "g.131371197C>T" "" "" "" "SPTAN1(NM_001130438.2):c.4536C>T (p.I1512=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000684774" "0" "30" "9" "131343207" "131343207" "subst" "0.005132" "00004" "SPTAN1_000025" "g.131343207G>A" "frequency 0.080" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.128580928G>A" "" "likely benign" "" "0000690421" "0" "30" "9" "131341936" "131341936" "subst" "0.000308735" "01943" "WDR34_000046" "g.131341936A>G" "" "" "" "SPTAN1(NM_001363759.1):c.1242A>G (p.E414=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690422" "0" "30" "9" "131345059" "131345059" "subst" "0.000264097" "01943" "WDR34_000047" "g.131345059C>T" "" "" "" "SPTAN1(NM_001363759.1):c.1737C>T (p.F579=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690423" "0" "50" "9" "131388225" "131388227" "del" "0" "01943" "WDR34_000048" "g.131388225_131388227del" "" "" "" "SPTAN1(NM_001363759.1):c.6247_6249delAAG (p.K2083del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690424" "0" "70" "9" "131394565" "131394565" "subst" "0" "02325" "WDR34_000049" "g.131394565C>T" "" "" "" "SPTAN1(NM_001130438.3):c.6922C>T (p.R2308C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000690425" "0" "50" "9" "131395490" "131395490" "subst" "0" "01943" "WDR34_000050" "g.131395490C>G" "" "" "" "SPTAN1(NM_001130438.2):c.7311C>G (p.N2437K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690426" "0" "50" "9" "131395550" "131395550" "subst" "0" "01943" "WDR34_000051" "g.131395550G>T" "" "" "" "SPTAN1(NM_001363759.1):c.7434G>T (p.K2478N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722283" "0" "50" "9" "131339692" "131339692" "subst" "0" "02329" "WDR34_000039" "g.131339692A>G" "" "" "" "SPTAN1(NM_001363759.2):c.992A>G (p.Q331R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722284" "0" "50" "9" "131346630" "131346630" "subst" "0" "01943" "WDR34_000052" "g.131346630A>G" "" "" "" "SPTAN1(NM_001363759.1):c.2263A>G (p.I755V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722285" "0" "30" "9" "131351105" "131351105" "subst" "0.000247784" "01943" "WDR34_000053" "g.131351105G>A" "" "" "" "SPTAN1(NM_001363759.1):c.2889G>A (p.T963=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722286" "0" "50" "9" "131375708" "131375708" "subst" "0" "01943" "WDR34_000054" "g.131375708G>C" "" "" "" "SPTAN1(NM_001130438.2):c.5092G>C (p.V1698L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722287" "0" "30" "9" "131380030" "131380030" "subst" "4.88142E-5" "01943" "WDR34_000055" "g.131380030G>A" "" "" "" "SPTAN1(NM_001130438.2):c.5469G>A (p.P1823=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722288" "0" "30" "9" "131388888" "131388888" "subst" "0.00027301" "02326" "SPTAN1_000048" "g.131388888C>T" "" "" "" "SPTAN1(NM_001130438.2):c.6498C>T (p.R2166=), SPTAN1(NM_001130438.3):c.6498C>T (p.R2166=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722289" "0" "50" "9" "131394437" "131394437" "subst" "0" "02329" "WDR34_000018" "g.131394437G>C" "" "" "" "SPTAN1(NM_001130438.2):c.6794G>C (p.S2265T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722290" "0" "30" "9" "131394453" "131394453" "subst" "2.849E-5" "01943" "WDR34_000056" "g.131394453C>T" "" "" "" "SPTAN1(NM_001363759.1):c.6873C>T (p.I2291=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722291" "0" "90" "9" "131394891" "131394891" "del" "0" "01943" "WDR34_000057" "g.131394891del" "" "" "" "SPTAN1(NM_001363759.1):c.7117delG (p.E2373Sfs*49)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000722292" "0" "30" "9" "131395078" "131395078" "subst" "0.000345663" "01943" "WDR34_000019" "g.131395078C>T" "" "" "" "SPTAN1(NM_001130438.2):c.7161-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722293" "0" "30" "9" "131395571" "131395571" "subst" "0.000349437" "01943" "WDR34_000020" "g.131395571G>A" "" "" "" "SPTAN1(NM_001130438.2):c.7392G>A (p.A2464=), SPTAN1(NM_001130438.3):c.7392G>A (p.A2464=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000787409" "0" "50" "9" "131377947" "131377947" "subst" "8.12341E-6" "00006" "SPTAN1_000089" "g.131377947C>G" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs764203560" "0" "" "" "g.128615668C>G" "" "VUS" "" "0000787410" "0" "50" "9" "131381250" "131381250" "subst" "8.12579E-6" "00006" "SPTAN1_000090" "g.131381250G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs748450616" "0" "" "" "g.128618971G>A" "" "VUS" "" "0000787608" "0" "50" "9" "131395594" "131395594" "subst" "8.13134E-6" "00000" "SPTAN1_000091" "g.131395594G>A" "" "0" "" "" "" "Germline" "" "rs375016371" "0" "" "" "g.128633315G>A" "" "VUS" "" "0000796342" "0" "90" "9" "131394539" "131394547" "del" "0" "01164" "SPTAN1_000092" "g.131394539_131394547del" "" "" "" "NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[1] (p.2300DQL[1])" "ACMG: PS2_VSTR, PM1, PM4, PM2_SUP" "De novo" "?" "" "0" "" "" "g.128632260_128632268del" "VCV000207380.3" "pathogenic (dominant)" "ACMG" "0000803894" "0" "50" "9" "131339735" "131339735" "subst" "0" "01943" "WDR34_000058" "g.131339735G>T" "" "" "" "SPTAN1(NM_001363759.1):c.1035G>T (p.Q345H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803895" "0" "30" "9" "131341997" "131341997" "subst" "0.00225496" "02325" "SPTAN1_000010" "g.131341997T>G" "" "" "" "SPTAN1(NM_001130438.2):c.1303T>G (p.S435A), SPTAN1(NM_001130438.3):c.1303T>G (p.S435A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803896" "0" "50" "9" "131353883" "131353883" "subst" "2.0315E-5" "02325" "SPTAN1_000015" "g.131353883G>A" "" "" "" "SPTAN1(NM_001130438.2):c.3134G>A (p.R1045Q), SPTAN1(NM_001130438.3):c.3134G>A (p.R1045Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803897" "0" "30" "9" "131388978" "131388978" "subst" "0.000152208" "02326" "WDR34_000059" "g.131388978G>A" "" "" "" "SPTAN1(NM_001130438.2):c.6576+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803898" "0" "30" "9" "131395571" "131395571" "subst" "4.06322E-6" "02326" "WDR34_000060" "g.131395571G>C" "" "" "" "SPTAN1(NM_001130438.2):c.7392G>C (p.A2464=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803899" "0" "90" "9" "131396217" "131396218" "del" "0" "01943" "WDR34_000061" "g.131396217_131396218del" "" "" "" "WDR34(NM_052844.3):c.1418_1419delCA (p.T473Sfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000803900" "0" "30" "9" "131396964" "131396964" "subst" "0.000139288" "01943" "WDR34_000062" "g.131396964G>A" "" "" "" "WDR34(NM_052844.3):c.1214+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803901" "0" "50" "9" "131397011" "131397011" "subst" "3.29155E-5" "01943" "WDR34_000063" "g.131397011G>C" "" "" "" "WDR34(NM_052844.3):c.1171C>G (p.H391D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000823732" "0" "50" "9" "131345000" "131345000" "subst" "4.06597E-6" "02494" "SPTAN1_000093" "g.131345000G>A" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "VUS" "" "0000852115" "0" "30" "9" "131345502" "131345502" "subst" "4.08523E-6" "01943" "WDR34_000071" "g.131345502T>C" "" "" "" "SPTAN1(NM_001130438.2):c.1953T>C (p.A651=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852116" "0" "50" "9" "131356572" "131356572" "subst" "0" "02327" "WDR34_000073" "g.131356572G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852117" "0" "30" "9" "131367308" "131367308" "subst" "0.0014579" "01943" "SPTAN1_000017" "g.131367308T>G" "" "" "" "SPTAN1(NM_001130438.2):c.3720-5T>G, SPTAN1(NM_001363759.1):c.3720-5T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852118" "0" "50" "9" "131370263" "131370263" "subst" "1.62454E-5" "02325" "SPTAN1_000062" "g.131370263C>T" "" "" "" "SPTAN1(NM_001130438.2):c.4279C>T (p.(Arg1427Cys)), SPTAN1(NM_001130438.3):c.4279C>T (p.R1427C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852119" "0" "30" "9" "131388089" "131388089" "subst" "0.0023314" "01943" "WDR34_000074" "g.131388089C>T" "" "" "" "SPTAN1(NM_001130438.2):c.6111C>T (p.G2037=), SPTAN1(NM_001363759.1):c.6111C>T (p.G2037=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852120" "0" "30" "9" "131398631" "131398631" "subst" "0" "01804" "WDR34_000076" "g.131398631G>A" "" "" "" "WDR34(NM_052844.3):c.632C>T (p.(Ser211Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861407" "0" "30" "9" "131388888" "131388888" "subst" "0.00027301" "01943" "SPTAN1_000048" "g.131388888C>T" "" "" "" "SPTAN1(NM_001130438.2):c.6498C>T (p.R2166=), SPTAN1(NM_001130438.3):c.6498C>T (p.R2166=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861408" "0" "50" "9" "131389713" "131389713" "subst" "0" "02325" "SPTAN1_000052" "g.131389713G>A" "" "" "" "SPTAN1(NM_001130438.2):c.6625G>A (p.D2209N), SPTAN1(NM_001130438.3):c.6625G>A (p.D2209N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861409" "0" "50" "9" "131395569" "131395569" "subst" "7.31374E-5" "01943" "WDR34_000041" "g.131395569G>A" "" "" "" "SPTAN1(NM_001130438.2):c.7390G>A (p.A2464T), SPTAN1(NM_001130438.3):c.7390G>A (p.A2464T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861410" "0" "50" "9" "131396130" "131396130" "subst" "6.11337E-5" "01804" "WDR34_000075" "g.131396130C>T" "" "" "" "WDR34(NM_052844.3):c.1504G>A (p.(Asp502Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861411" "0" "30" "9" "131418906" "131418906" "subst" "0" "01804" "WDR34_000077" "g.131418906G>A" "" "" "" "WDR34(NM_052844.3):c.100C>T (p.(Arg34Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888637" "0" "50" "9" "131336978" "131336978" "subst" "0" "02329" "WDR34_000078" "g.131336978C>A" "" "" "" "SPTAN1(NM_001363759.2):c.388C>A (p.Q130K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888638" "0" "30" "9" "131367760" "131367760" "subst" "0.000113816" "02325" "WDR34_000079" "g.131367760C>T" "" "" "" "SPTAN1(NM_001130438.3):c.4046+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888639" "0" "50" "9" "131369953" "131369953" "subst" "0" "02326" "WDR34_000080" "g.131369953G>A" "" "" "" "SPTAN1(NM_001130438.2):c.4117G>A (p.G1373R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888640" "0" "50" "9" "131373997" "131373997" "subst" "8.12532E-6" "02327" "WDR34_000081" "g.131373997A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888641" "0" "90" "9" "131374047" "131374047" "subst" "0" "02327" "WDR34_000012" "g.131374047C>T" "" "" "" "SPTAN1(NM_001130438.2):c.4828C>T (p.R1610W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888642" "0" "50" "9" "131396135" "131396135" "subst" "0.000379016" "01804" "WDR34_000002" "g.131396135G>A" "" "" "" "WDR34(NM_052844.3):c.1499C>T (p.A500V, p.(Ala500Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888643" "0" "30" "9" "131397066" "131397066" "subst" "0.00248561" "02326" "WDR34_000082" "g.131397066C>T" "" "" "" "WDR34(NM_052844.3):c.1116G>A (p.T372=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888644" "0" "30" "9" "131397116" "131397116" "subst" "0.0039643" "02326" "WDR34_000025" "g.131397116C>T" "" "" "" "WDR34(NM_052844.3):c.1066G>A (p.G356S, p.(Gly356Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000908551" "11" "50" "9" "131355267" "131355267" "subst" "4.26417E-5" "00006" "SPTAN1_000094" "g.131355267G>A" "" "{PMID:Zhou 2018:29314583}" "" "R1054H" "" "Germline" "" "" "0" "" "" "g.128592988G>A" "" "VUS" "ACMG" "0000913089" "0" "90" "9" "131339117" "131339117" "subst" "0" "02325" "WDR34_000083" "g.131339117G>T" "" "" "" "SPTAN1(NM_001130438.3):c.667G>T (p.E223*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000913091" "0" "90" "9" "131388082" "131388082" "del" "0" "02327" "WDR34_000084" "g.131388082del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000924965" "0" "30" "9" "131347125" "131347125" "subst" "3.24907E-5" "02325" "WDR34_000086" "g.131347125G>A" "" "" "" "SPTAN1(NM_001130438.3):c.2560+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924967" "0" "30" "9" "131380262" "131380262" "subst" "1.62489E-5" "02325" "WDR34_000088" "g.131380262T>G" "" "" "" "SPTAN1(NM_001130438.3):c.5479-4T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929540" "0" "50" "9" "131370141" "131370141" "subst" "0" "02327" "WDR34_000089" "g.131370141C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000935950" "0" "90" "9" "131367368" "131367371" "del" "0" "00006" "SPTAN1_000096" "g.131367368_131367371del" "" "{PMID:Chuan 2022:35571021}" "" "NM_001363759.2:c.3775_3778del" "ACMG PVS1,PM2,PM4" "Germline/De novo (untested)" "" "" "0" "" "" "g.128605089_128605092del" "" "pathogenic (dominant)" "ACMG" "0000935965" "0" "50" "9" "131361235" "131361235" "subst" "4.06098E-6" "00006" "SPTAN1_000095" "g.131361235C>T" "" "{PMID:Chuan 2022:35571021}" "" "NM_001363759.2:c.3520-7C>T" "ACMG PM2,PP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.128598956C>T" "" "VUS" "ACMG" "0000935999" "0" "70" "9" "131380296" "131380296" "subst" "8.12605E-6" "00006" "SPTAN1_000097" "g.131380296G>A" "" "{PMID:Chuan 2022:35571021}" "" "NM_001363759.2:c.5509G>A" "ACMG PM1,PM2,PP3,PP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.128618017G>A" "" "likely pathogenic (dominant)" "ACMG" "0000949194" "0" "30" "9" "131348219" "131348219" "subst" "5.28907E-5" "02325" "WDR34_000090" "g.131348219A>G" "" "" "" "SPTAN1(NM_001130438.3):c.2753A>G (p.Y918C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949195" "0" "50" "9" "131367311" "131367311" "subst" "0" "02325" "WDR34_000091" "g.131367311A>G" "" "" "" "SPTAN1(NM_001130438.3):c.3720-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965183" "0" "30" "9" "131329260" "131329260" "subst" "8.96072E-5" "02325" "WDR34_000092" "g.131329260C>T" "" "" "" "SPTAN1(NM_001130438.3):c.237+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965184" "0" "30" "9" "131340457" "131340457" "subst" "5.28125E-5" "02325" "WDR34_000093" "g.131340457A>G" "" "" "" "SPTAN1(NM_001130438.3):c.1154A>G (p.N385S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965192" "0" "30" "9" "131371477" "131371477" "subst" "8.12394E-6" "02327" "WDR34_000095" "g.131371477C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978419" "0" "30" "9" "131317629" "131317629" "subst" "0.00182707" "01804" "WDR34_000097" "g.131317629C>T" "" "" "" "SPTAN1(NM_001375312.2):c.-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978420" "0" "70" "9" "131383537" "131383537" "subst" "0" "01804" "WDR34_000098" "g.131383537T>G" "" "" "" "SPTAN1(NM_001130438.3):c.5832+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000978421" "0" "30" "9" "131394706" "131394706" "subst" "0" "01804" "WDR34_000099" "g.131394706C>G" "" "" "" "SPTAN1(NM_001130438.3):c.6960-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978422" "0" "50" "9" "131395538" "131395538" "subst" "0" "01804" "WDR34_000100" "g.131395538C>G" "" "" "" "SPTAN1(NM_001130438.3):c.7359C>G (p.(Tyr2453Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978423" "0" "50" "9" "131396036" "131396036" "subst" "4.07329E-6" "01804" "WDR34_000101" "g.131396036T>G" "" "" "" "WDR34(NM_052844.4):c.1598A>C (p.(Glu533Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978424" "0" "50" "9" "131397174" "131397174" "subst" "0.00134078" "01804" "WDR34_000102" "g.131397174G>A" "" "" "" "WDR34(NM_052844.4):c.1008C>T (p.(Gly336=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997513" "0" "50" "9" "131337577" "131337577" "subst" "0" "01804" "WDR34_000103" "g.131337577G>A" "" "" "" "SPTAN1(NM_001130438.2):c.604G>A (p.(Glu202Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997514" "0" "30" "9" "131343207" "131343207" "subst" "0.005132" "01804" "SPTAN1_000025" "g.131343207G>A" "" "" "" "SPTAN1(NM_001130438.2):c.1330G>A (p.(Val444Ile), p.V444I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997515" "0" "30" "9" "131344061" "131344061" "subst" "0" "01804" "WDR34_000104" "g.131344061G>C" "" "" "" "SPTAN1(NM_001130438.2):c.1462G>C (p.(Ala488Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997516" "0" "30" "9" "131346745" "131346745" "subst" "0" "01804" "WDR34_000105" "g.131346745T>C" "" "" "" "SPTAN1(NM_001130438.2):c.2378T>C (p.(Val793Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997517" "0" "30" "9" "131353848" "131353848" "subst" "4.46733E-5" "01804" "SPTAN1_000014" "g.131353848G>T" "" "" "" "SPTAN1(NM_001130438.2):c.3099G>T (p.(Glu1033Asp), p.E1033D), SPTAN1(NM_001130438.3):c.3099G>T (p.E1033D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997518" "0" "30" "9" "131355266" "131355266" "subst" "0" "01804" "WDR34_000106" "g.131355266C>T" "" "" "" "SPTAN1(NM_001130438.2):c.3160C>T (p.(Arg1054Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997519" "0" "50" "9" "131360724" "131360724" "subst" "0" "02325" "SPTAN1_000031" "g.131360724G>A" "" "" "" "SPTAN1(NM_001130438.2):c.3460G>A (p.A1154T), SPTAN1(NM_001130438.3):c.3460G>A (p.A1154T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997520" "0" "30" "9" "131367651" "131367651" "subst" "4.06253E-6" "01804" "SPTAN1_000035" "g.131367651G>A" "" "" "" "SPTAN1(NM_001130438.2):c.3941G>A (p.(Cys1314Tyr), p.C1314Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997521" "0" "50" "9" "131367749" "131367749" "subst" "6.90714E-5" "02325" "WDR34_000107" "g.131367749G>A" "" "" "" "SPTAN1(NM_001130438.3):c.4039G>A (p.D1347N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997522" "0" "50" "9" "131370156" "131370156" "subst" "0" "01804" "WDR34_000108" "g.131370156G>A" "" "" "" "SPTAN1(NM_001130438.2):c.4172G>A (p.(Arg1391Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997523" "0" "50" "9" "131370294" "131370294" "subst" "9.34071E-5" "01804" "SPTAN1_000019" "g.131370294G>A" "" "" "" "SPTAN1(NM_001130438.2):c.4310G>A (p.(Arg1437His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997524" "0" "30" "9" "131371198" "131371198" "subst" "2.44057E-5" "01804" "WDR34_000109" "g.131371198G>A" "" "" "" "SPTAN1(NM_001130438.2):c.4537G>A (p.(Ala1513Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997525" "0" "30" "9" "131371235" "131371235" "subst" "2.43932E-5" "01804" "WDR34_000110" "g.131371235G>A" "" "" "" "SPTAN1(NM_001130438.2):c.4574G>A (p.(Arg1525Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997526" "0" "70" "9" "131371405" "131371405" "subst" "0" "02327" "WDR34_000111" "g.131371405C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000997527" "0" "50" "9" "131380277" "131380277" "subst" "8.12453E-6" "02325" "WDR34_000112" "g.131380277C>A" "" "" "" "SPTAN1(NM_001130438.3):c.5490C>A (p.D1830E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997528" "0" "30" "9" "131383523" "131383523" "subst" "0" "01804" "WDR34_000113" "g.131383523C>A" "" "" "" "SPTAN1(NM_001130438.2):c.5820C>A (p.(Asp1940Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997529" "0" "30" "9" "131388081" "131388081" "subst" "8.12427E-6" "01804" "SPTAN1_000066" "g.131388081C>G" "" "" "" "SPTAN1(NM_001130438.2):c.6103C>G (p.(Gln2035Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997530" "0" "30" "9" "131388887" "131388887" "subst" "8.1483E-6" "01804" "WDR34_000114" "g.131388887G>A" "" "" "" "SPTAN1(NM_001130438.2):c.6497G>A (p.(Arg2166His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997531" "0" "50" "9" "131394891" "131394893" "del" "0" "01804" "WDR34_000115" "g.131394891_131394893del" "" "" "" "SPTAN1(NM_001130438.2):c.7054_7056delGAG (p.(Glu2352del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997532" "0" "50" "9" "131394991" "131394991" "subst" "4.06263E-6" "01804" "WDR34_000116" "g.131394991C>T" "" "" "" "SPTAN1(NM_001130438.2):c.7154C>T (p.(Pro2385Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997533" "0" "30" "9" "131403053" "131403053" "subst" "4.06204E-6" "01804" "WDR34_000117" "g.131403053T>G" "" "" "" "WDR34(NM_052844.3):c.352A>C (p.(Met118Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025589" "0" "50" "9" "131380278" "131380278" "subst" "8.12466E-6" "02325" "WDR34_000118" "g.131380278A>G" "" "" "" "SPTAN1(NM_001130438.3):c.5491A>G (p.T1831A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037199" "0" "30" "9" "131345087" "131345087" "subst" "1.62579E-5" "01804" "WDR34_000119" "g.131345087G>C" "" "" "" "SPTAN1(NM_001130438.3):c.1765G>C (p.(Val589Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037200" "0" "30" "9" "131353848" "131353848" "subst" "4.46733E-5" "02325" "SPTAN1_000014" "g.131353848G>T" "" "" "" "SPTAN1(NM_001130438.2):c.3099G>T (p.(Glu1033Asp), p.E1033D), SPTAN1(NM_001130438.3):c.3099G>T (p.E1033D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037201" "0" "30" "9" "131366892" "131366892" "subst" "0" "01804" "WDR34_000120" "g.131366892G>C" "" "" "" "SPTAN1(NM_001130438.3):c.3719+196G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037203" "0" "70" "9" "131386724" "131386724" "subst" "0" "01804" "WDR34_000121" "g.131386724C>G" "" "" "" "SPTAN1(NM_001130438.3):c.5950C>G (p.(Leu1984Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001037204" "0" "30" "9" "131394755" "131394755" "subst" "8.12288E-6" "01804" "WDR34_000122" "g.131394755G>C" "" "" "" "SPTAN1(NM_001130438.3):c.7005G>C (p.(Met2335Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037205" "0" "30" "9" "131396264" "131396264" "subst" "0" "01804" "WDR34_000123" "g.131396264G>A" "" "" "" "WDR34(NM_052844.4):c.1373-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037206" "0" "50" "9" "131397002" "131397002" "subst" "1.48472E-5" "01804" "WDR34_000124" "g.131397002G>A" "" "" "" "WDR34(NM_052844.4):c.1180C>T (p.(Pro394Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037207" "0" "50" "9" "131397194" "131397194" "subst" "7.82151E-5" "01804" "WDR34_000125" "g.131397194G>A" "" "" "" "WDR34(NM_052844.4):c.988C>T (p.(Arg330Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037208" "0" "50" "9" "131397968" "131397968" "subst" "0" "01804" "WDR34_000126" "g.131397968G>A" "" "" "" "WDR34(NM_052844.4):c.782C>T (p.(Thr261Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037209" "0" "50" "9" "131398608" "131398608" "subst" "0" "01804" "WDR34_000127" "g.131398608C>T" "" "" "" "WDR34(NM_052844.4):c.655G>A (p.(Ala219Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046179" "0" "10" "9" "131339569" "131339569" "subst" "0.000804224" "02326" "WDR34_000128" "g.131339569G>A" "" "" "" "SPTAN1(NM_001130438.2):c.930+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001046180" "0" "30" "9" "131339615" "131339615" "subst" "0.00253931" "02326" "WDR34_000129" "g.131339615C>T" "" "" "" "SPTAN1(NM_001130438.2):c.931-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046181" "0" "10" "9" "131388089" "131388089" "subst" "0.0023314" "02326" "WDR34_000074" "g.131388089C>T" "" "" "" "SPTAN1(NM_001130438.2):c.6111C>T (p.G2037=), SPTAN1(NM_001363759.1):c.6111C>T (p.G2037=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001046182" "0" "10" "9" "131394702" "131394702" "subst" "0.000190877" "02326" "WDR34_000130" "g.131394702T>C" "" "" "" "SPTAN1(NM_001130438.2):c.6960-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 SPTAN1 ## Count = 262 "{{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}}" "0000012731" "00024012" "30" "6707" "220" "6707" "220" "c.6707+220G>A" "r.(=)" "p.(=)" "51i" "0000040314" "00024012" "90" "271" "0" "271" "0" "c.271G>A" "r.(?)" "p.(Glu91Lys)" "2" "0000053076" "00024012" "70" "5308" "0" "5308" "0" "c.5308C>T" "r.(?)" "p.(Arg1770Cys)" "41" "0000079390" "00024012" "00" "4688" "0" "5148" "191" "c.4688_5148+191del" "r.spl?" "p.?" "" "0000079447" "00024012" "00" "6431" "0" "6431" "0" "c.6431C>G" "r.(?)" "p.(Ser2144Cys)" "" "0000079497" "00024012" "00" "1324" "-246" "2012" "-53" "c.1324-246_2012-53del" "r.(?)" "p.(Leu442Glufs*2)" "" "0000188145" "00024012" "00" "3099" "0" "3099" "0" "c.3099G>T" "r.(?)" "p.(Glu1033Asp)" "" "0000188151" "00024012" "00" "1303" "0" "1303" "0" "c.1303T>G" "r.(?)" "p.(Ser435Ala)" "" "0000188161" "00024012" "00" "7239" "0" "7239" "0" "c.7239G>C" "r.(?)" "p.(Glu2413Asp)" "" "0000188162" "00024012" "00" "3720" "-5" "3720" "-5" "c.3720-5T>G" "r.spl?" "p.?" "" "0000188181" "00024012" "00" "1303" "0" "1303" "0" "c.1303T>G" "r.(?)" "p.(Ser435Ala)" "" "0000188186" "00024012" "00" "4283" "0" "4283" "0" "c.4283C>G" "r.(?)" "p.(Ala1428Gly)" "" "0000188188" "00024012" "00" "2402" "0" "2402" "0" "c.2402G>A" "r.(?)" "p.(Arg801Gln)" "" "0000188216" "00024012" "00" "1303" "0" "1303" "0" "c.1303T>G" "r.(?)" "p.(Ser435Ala)" "" "0000188232" "00024012" "00" "3134" "0" "3134" "0" "c.3134G>A" "r.(?)" "p.(Arg1045Gln)" "" "0000188244" "00024012" "00" "3720" "-5" "3720" "-5" "c.3720-5T>G" "r.spl?" "p.?" "" "0000188253" "00024012" "00" "1303" "0" "1303" "0" "c.1303T>G" "r.(?)" "p.(Ser435Ala)" "" "0000188259" "00024012" "00" "4702" "0" "4702" "0" "c.4702A>G" "r.(?)" "p.(Ser1568Gly)" "" "0000188309" "00024012" "00" "7267" "0" "7267" "0" "c.7267T>A" "r.(?)" "p.(Ser2423Thr)" "" "0000188328" "00024012" "00" "1303" "0" "1303" "0" "c.1303T>G" "r.(?)" "p.(Ser435Ala)" "" "0000188338" "00024012" "00" "1303" "0" "1303" "0" "c.1303T>G" "r.(?)" "p.(Ser435Ala)" "" "0000188343" "00024012" "00" "1303" "0" "1303" "0" "c.1303T>G" "r.(?)" "p.(Ser435Ala)" "" "0000188363" "00024012" "00" "1303" "0" "1303" "0" "c.1303T>G" "r.(?)" "p.(Ser435Ala)" "" "0000188368" "00024012" "00" "1303" "0" "1303" "0" "c.1303T>G" "r.(?)" "p.(Ser435Ala)" "" "0000188370" "00024012" "00" "6854" "0" "6854" "0" "c.6854A>G" "r.(?)" "p.(Asn2285Ser)" "" "0000188383" "00024012" "00" "1303" "0" "1303" "0" "c.1303T>G" "r.(?)" "p.(Ser435Ala)" "" "0000188391" "00024012" "00" "3720" "-5" "3720" "-5" "c.3720-5T>G" "r.spl?" "p.?" "" "0000188399" "00024012" "00" "4852" "0" "4852" "0" "c.4852G>A" "r.(?)" "p.(Gly1618Ser)" "" "0000188466" "00024012" "00" "3720" "-5" "3720" "-5" "c.3720-5T>G" "r.spl?" "p.?" "" "0000188484" "00024012" "00" "1511" "0" "1511" "0" "c.1511C>T" "r.(?)" "p.(Ala504Val)" "" "0000188505" "00024012" "00" "4310" "0" "4310" "0" "c.4310G>A" "r.(?)" "p.(Arg1437His)" "" "0000188511" "00024012" "00" "3720" "-5" "3720" "-5" "c.3720-5T>G" "r.spl?" "p.?" "" "0000188517" "00024012" "00" "4283" "0" "4283" "0" "c.4283C>G" "r.(?)" "p.(Ala1428Gly)" "" "0000188525" "00024012" "00" "2224" "0" "2224" "0" "c.2224C>T" "r.(?)" "p.(Arg742Cys)" "" "0000188538" "00024012" "00" "3673" "0" "3673" "0" "c.3673C>T" "r.(?)" "p.(Arg1225Trp)" "" "0000244177" "00024012" "90" "1330" "0" "1330" "0" "c.1330G>A" "r.(?)" "p.(Val444Ile)" "" "0000248611" "00024012" "10" "2163" "0" "2163" "0" "c.2163=" "r.(=)" "p.(Ala721=)" "" "0000248612" "00024012" "10" "5085" "0" "5085" "0" "c.5085=" "r.(=)" "p.(Leu1695=)" "" "0000251438" "00024012" "10" "2193" "61" "2193" "61" "c.2193+61A>G" "r.(=)" "p.(=)" "" "0000251912" "00024012" "30" "3196" "0" "3196" "0" "c.3196A>G" "r.(?)" "p.(Met1066Val)" "" "0000311544" "00024012" "10" "2194" "-13" "2194" "-13" "c.2194-13T>G" "r.(=)" "p.(=)" "" "0000311545" "00024012" "50" "2834" "0" "2834" "0" "c.2834G>C" "r.(?)" "p.(Ser945Thr)" "" "0000311546" "00024012" "10" "3486" "0" "3486" "0" "c.3486C>T" "r.(?)" "p.(Leu1162=)" "" "0000311547" "00024012" "30" "4283" "0" "4283" "0" "c.4283C>G" "r.(?)" "p.(Ala1428Gly)" "" "0000311548" "00024012" "10" "4410" "0" "4410" "0" "c.4410C>T" "r.(?)" "p.(Thr1470=)" "" "0000311549" "00024012" "10" "5406" "0" "5406" "0" "c.5406C>T" "r.(?)" "p.(Thr1802=)" "" "0000311550" "00024012" "30" "5880" "0" "5880" "0" "c.5880C>T" "r.(?)" "p.(Asn1960=)" "" "0000311551" "00024012" "30" "6498" "0" "6498" "0" "c.6498C>T" "r.(?)" "p.(Arg2166=)" "" "0000311552" "00024012" "10" "6549" "0" "6549" "0" "c.6549C>A" "r.(?)" "p.(Thr2183=)" "" "0000313990" "00024012" "10" "1221" "11" "1221" "11" "c.1221+11C>T" "r.(=)" "p.(=)" "" "0000313991" "00024012" "30" "1286" "0" "1286" "0" "c.1286C>T" "r.(?)" "p.(Ala429Val)" "" "0000313992" "00024012" "30" "1303" "0" "1303" "0" "c.1303T>G" "r.(?)" "p.(Ser435Ala)" "" "0000313993" "00024012" "10" "1330" "0" "1330" "0" "c.1330G>A" "r.(?)" "p.(Val444Ile)" "" "0000313994" "00024012" "30" "1375" "0" "1375" "0" "c.1375C>T" "r.(?)" "p.(Arg459Cys)" "" "0000313995" "00024012" "30" "1511" "0" "1511" "0" "c.1511C>T" "r.(?)" "p.(Ala504Val)" "" "0000313996" "00024012" "30" "1806" "15" "1806" "15" "c.1806+15G>T" "r.(=)" "p.(=)" "" "0000313997" "00024012" "30" "199" "0" "199" "0" "c.199G>T" "r.(?)" "p.(Ala67Ser)" "" "0000313998" "00024012" "10" "3007" "-115" "3007" "-115" "c.3007-115G>A" "r.(=)" "p.(=)" "" "0000313999" "00024012" "30" "3099" "0" "3099" "0" "c.3099G>T" "r.(?)" "p.(Glu1033Asp)" "" "0000314000" "00024012" "30" "3134" "0" "3134" "0" "c.3134G>A" "r.(?)" "p.(Arg1045Gln)" "" "0000314001" "00024012" "10" "3415" "-112" "3415" "-112" "c.3415-112del" "r.(=)" "p.(=)" "" "0000314002" "00024012" "10" "3415" "-114" "3415" "-114" "c.3415-114del" "r.(=)" "p.(=)" "" "0000314004" "00024012" "10" "3415" "-115" "3415" "-114" "c.3415-115_3415-114del" "r.(=)" "p.(=)" "" "0000314005" "00024012" "10" "3415" "-155" "3415" "-155" "c.3415-155C>T" "r.(=)" "p.(=)" "" "0000314006" "00024012" "30" "3520" "-14" "3520" "-14" "c.3520-14C>G" "r.(=)" "p.(=)" "" "0000314007" "00024012" "30" "3720" "-4" "3720" "-4" "c.3720-4T>A" "r.spl?" "p.?" "" "0000314008" "00024012" "30" "3720" "-5" "3720" "-5" "c.3720-5T>G" "r.spl?" "p.?" "" "0000314009" "00024012" "30" "3941" "0" "3941" "0" "c.3941G>A" "r.(?)" "p.(Cys1314Tyr)" "" "0000314010" "00024012" "50" "4144" "0" "4144" "0" "c.4144C>A" "r.(?)" "p.(Gln1382Lys)" "" "0000314011" "00024012" "30" "4283" "0" "4283" "0" "c.4283C>G" "r.(?)" "p.(Ala1428Gly)" "" "0000314012" "00024012" "30" "4596" "-5" "4596" "-5" "c.4596-5T>G" "r.spl?" "p.?" "" "0000314013" "00024012" "10" "5357" "116" "5357" "116" "c.5357+116T>G" "r.(=)" "p.(=)" "" "0000314014" "00024012" "30" "5478" "12" "5478" "12" "c.5478+12G>A" "r.(=)" "p.(=)" "" "0000314015" "00024012" "30" "5552" "0" "5552" "0" "c.5552C>T" "r.(?)" "p.(Ala1851Val)" "" "0000314016" "00024012" "10" "5832" "56" "5832" "56" "c.5832+56G>T" "r.(=)" "p.(=)" "" "0000314017" "00024012" "30" "652" "-6" "652" "-6" "c.652-6G>A" "r.(=)" "p.(=)" "" "0000314018" "00024012" "30" "6576" "11" "6576" "11" "c.6576+11C>G" "r.(=)" "p.(=)" "" "0000314020" "00024012" "30" "6625" "0" "6625" "0" "c.6625G>A" "r.(?)" "p.(Asp2209Asn)" "" "0000314021" "00024012" "10" "6708" "-7" "6708" "-7" "c.6708-7C>T" "r.(=)" "p.(=)" "" "0000314022" "00024012" "10" "7389" "0" "7389" "0" "c.7389C>T" "r.(?)" "p.(Thr2463=)" "" "0000314023" "00024012" "70" "917" "0" "917" "0" "c.917C>T" "r.(?)" "p.(Ala306Val)" "" "0000315646" "00024012" "50" "1819" "0" "1819" "0" "c.1819C>A" "r.(?)" "p.(Leu607Ile)" "" "0000315647" "00024012" "50" "3167" "0" "3167" "0" "c.3167C>T" "r.(?)" "p.(Thr1056Ile)" "" "0000315648" "00024012" "50" "3460" "0" "3460" "0" "c.3460G>A" "r.(?)" "p.(Ala1154Thr)" "" "0000315649" "00024012" "30" "5044" "-4" "5044" "-4" "c.5044-4C>T" "r.spl?" "p.?" "" "0000315650" "00024012" "50" "5224" "0" "5224" "0" "c.5224G>A" "r.(?)" "p.(Asp1742Asn)" "" "0000315651" "00024012" "30" "6763" "-6" "6763" "-6" "c.6763-6C>A" "r.(=)" "p.(=)" "" "0000339395" "00024012" "10" "3486" "0" "3486" "0" "c.3486C>T" "r.(?)" "p.(Leu1162=)" "" "0000339396" "00024012" "10" "5406" "0" "5406" "0" "c.5406C>T" "r.(?)" "p.(Thr1802=)" "" "0000341123" "00024012" "50" "3424" "0" "3424" "0" "c.3424G>T" "r.(?)" "p.(Ala1142Ser)" "" "0000341914" "00024012" "30" "4279" "0" "4279" "0" "c.4279C>T" "r.(?)" "p.(Arg1427Cys)" "" "0000342290" "00024012" "90" "6610" "0" "6610" "0" "c.6610C>T" "r.(?)" "p.(Arg2204Trp)" "" "0000343551" "00024012" "30" "3101" "0" "3101" "0" "c.3101A>G" "r.(?)" "p.(Asn1034Ser)" "" "0000344644" "00024012" "50" "6103" "0" "6103" "0" "c.6103C>G" "r.(?)" "p.(Gln2035Glu)" "" "0000344681" "00024012" "90" "6946" "0" "6946" "0" "c.6946C>G" "r.(?)" "p.(Gln2316Glu)" "" "0000345180" "00024012" "50" "5125" "0" "5125" "0" "c.5125G>A" "r.(?)" "p.(Glu1709Lys)" "" "0000347345" "00024012" "50" "2783" "0" "2783" "0" "c.2783T>A" "r.(?)" "p.(Leu928Gln)" "" "0000347437" "00024012" "50" "5078" "0" "5078" "0" "c.5078A>G" "r.(?)" "p.(Lys1693Arg)" "" "0000349144" "00024012" "50" "2108" "0" "2108" "0" "c.2108C>T" "r.(?)" "p.(Ser703Leu)" "" "0000350269" "00024012" "50" "3866" "0" "3866" "0" "c.3866T>G" "r.(?)" "p.(Val1289Gly)" "" "0000350885" "00024012" "30" "5409" "0" "5409" "0" "c.5409C>T" "r.(?)" "p.(Gly1803=)" "" "0000400808" "00024012" "30" "238" "-9" "238" "-9" "c.238-9C>T" "r.(?)" "p.(=)" "" "0000469164" "00024012" "95" "0" "0" "0" "0" "c.(?_-30)_(*220_?)" "r.(?)" "p.0?" "1_57" "0000469165" "00024012" "95" "6619" "0" "6621" "0" "c.6619_6621del" "r.(?)" "p.(Glu2207del)" "50" "0000469166" "00024012" "95" "6923" "0" "6928" "0" "c.6923_6928dup" "r.(?)" "p.(Arg2308_Met2309dup)" "53" "0000536400" "00024012" "50" "190" "0" "190" "0" "c.190C>T" "r.(?)" "p.(Leu64Phe)" "" "0000536401" "00024012" "50" "283" "0" "283" "0" "c.283A>G" "r.(?)" "p.(Asn95Asp)" "" "0000536402" "00024012" "30" "2880" "0" "2880" "0" "c.2880G>A" "r.(?)" "p.(Val960=)" "" "0000536403" "00024012" "50" "2962" "0" "2962" "0" "c.2962A>G" "r.(?)" "p.(Met988Val)" "" "0000536404" "00024012" "30" "3158" "0" "3158" "0" "c.3158C>T" "r.(?)" "p.(Thr1053Ile)" "" "0000536405" "00024012" "50" "3902" "0" "3902" "0" "c.3902A>G" "r.(?)" "p.(Gln1301Arg)" "" "0000536406" "00024012" "30" "3912" "0" "3912" "0" "c.3912C>T" "r.(?)" "p.(Pro1304=)" "" "0000536409" "00024012" "30" "4252" "0" "4252" "0" "c.4252C>A" "r.(?)" "p.(Gln1418Lys)" "" "0000536410" "00024012" "30" "4257" "0" "4257" "0" "c.4257A>G" "r.(?)" "p.(Lys1419=)" "" "0000536411" "00024012" "50" "4279" "0" "4279" "0" "c.4279C>T" "r.(?)" "p.(Arg1427Cys)" "" "0000536412" "00024012" "50" "4702" "0" "4702" "0" "c.4702A>G" "r.(?)" "p.(Ser1568Gly)" "" "0000536413" "00024012" "50" "4828" "0" "4828" "0" "c.4828C>T" "r.(?)" "p.(Arg1610Trp)" "" "0000536414" "00024012" "10" "5085" "0" "5085" "0" "c.5085=" "r.(=)" "p.(Leu1695=)" "" "0000536415" "00024012" "50" "5136" "0" "5136" "0" "c.5136A>G" "r.(?)" "p.(Ile1712Met)" "" "0000536416" "00024012" "50" "5407" "0" "5407" "0" "c.5407G>A" "r.(?)" "p.(Gly1803Ser)" "" "0000536417" "00024012" "10" "5925" "0" "5925" "0" "c.5925G>A" "r.(?)" "p.(Ala1975=)" "" "0000536418" "00024012" "50" "6479" "0" "6479" "0" "c.6479G>A" "r.(?)" "p.(Arg2160His)" "" "0000536419" "00024012" "10" "6576" "94" "6576" "95" "c.6576+94_6576+95insAA" "r.(=)" "p.(=)" "" "0000536421" "00024012" "30" "7161" "-9" "7161" "-9" "c.7161-9C>T" "r.(=)" "p.(=)" "" "0000536422" "00024012" "30" "7392" "0" "7392" "0" "c.7392G>A" "r.(?)" "p.(Ala2464=)" "" "0000536423" "00024012" "30" "8088" "0" "8089" "0" "c.*654_*655del" "r.(=)" "p.(=)" "" "0000536424" "00024012" "30" "8340" "0" "8340" "0" "c.*906G>A" "r.(=)" "p.(=)" "" "0000536425" "00024012" "50" "8359" "0" "8359" "0" "c.*925G>A" "r.(=)" "p.(=)" "" "0000536426" "00024012" "70" "8439" "0" "8442" "0" "c.*1005_*1008dup" "r.(=)" "p.(=)" "" "0000536427" "00024012" "50" "8937" "0" "8937" "0" "c.*1503C>T" "r.(=)" "p.(=)" "" "0000536428" "00024012" "30" "8937" "0" "8937" "0" "c.*1503C>T" "r.(=)" "p.(=)" "" "0000536429" "00024012" "30" "9188" "0" "9188" "0" "c.*1754G>A" "r.(=)" "p.(=)" "" "0000536430" "00024012" "10" "10468" "0" "10468" "0" "c.*3034G>A" "r.(=)" "p.(=)" "" "0000536431" "00024012" "50" "10516" "0" "10516" "0" "c.*3082T>C" "r.(=)" "p.(=)" "" "0000536432" "00024012" "30" "15042" "0" "15042" "0" "c.*7608G>T" "r.(=)" "p.(=)" "" "0000536435" "00024012" "30" "30762" "0" "30762" "0" "c.*23328G>A" "r.(=)" "p.(=)" "" "0000611882" "00024012" "30" "4047" "-14" "4047" "-14" "c.4047-14G>A" "r.(=)" "p.(=)" "" "0000611883" "00024012" "30" "5044" "-4" "5044" "-4" "c.5044-4C>T" "r.spl?" "p.?" "" "0000611885" "00024012" "50" "7974" "0" "7974" "0" "c.*540T>C" "r.(=)" "p.(=)" "" "0000611886" "00024012" "50" "10501" "0" "10501" "0" "c.*3067C>T" "r.(=)" "p.(=)" "" "0000622170" "00024012" "30" "2778" "20" "2778" "20" "c.2778+20G>A" "r.(=)" "p.(=)" "" "0000622171" "00024012" "30" "8351" "0" "8351" "0" "c.*917C>T" "r.(=)" "p.(=)" "" "0000652605" "00024012" "50" "1376" "0" "1376" "0" "c.1376G>A" "r.(?)" "p.(Arg459His)" "" "0000652607" "00024012" "50" "4075" "0" "4075" "0" "c.4075C>T" "r.(?)" "p.(Arg1359Trp)" "" "0000652609" "00024012" "30" "7589" "0" "7589" "0" "c.*155G>A" "r.(=)" "p.(=)" "" "0000656236" "00024012" "30" "5044" "-4" "5044" "-4" "c.5044-4C>T" "r.spl?" "p.?" "" "0000656237" "00024012" "30" "6270" "0" "6270" "0" "c.6270C>T" "r.(?)" "p.(His2090=)" "" "0000656238" "00024012" "50" "7390" "0" "7390" "0" "c.7390G>A" "r.(?)" "p.(Ala2464Thr)" "" "0000656239" "00024012" "30" "7956" "0" "7956" "0" "c.*522G>A" "r.(=)" "p.(=)" "" "0000664723" "00024012" "50" "5648" "0" "5648" "0" "c.5648A>G" "r.(?)" "p.(Asn1883Ser)" "" "0000670038" "00024012" "30" "5437" "0" "5437" "0" "c.5437C>A" "r.(=)" "p.(=)" "" "0000670039" "00024012" "30" "7589" "0" "7589" "0" "c.*155G>A" "r.(=)" "p.(=)" "" "0000678537" "00024012" "50" "1631" "0" "1631" "0" "c.1631T>G" "r.(?)" "p.(Val544Gly)" "" "0000678538" "00024012" "50" "1792" "0" "1792" "0" "c.1792G>C" "r.(?)" "p.(Asp598His)" "" "0000678539" "00024012" "30" "2610" "0" "2610" "0" "c.2610A>G" "r.(?)" "p.(Gln870=)" "" "0000678540" "00024012" "30" "4536" "0" "4536" "0" "c.4536C>T" "r.(?)" "p.(Ile1512=)" "" "0000684774" "00024012" "30" "1330" "0" "1330" "0" "c.1330G>A" "r.(?)" "p.(Val444Ile)" "" "0000690421" "00024012" "30" "1242" "0" "1242" "0" "c.1242A>G" "r.(?)" "p.(Glu414=)" "" "0000690422" "00024012" "30" "1737" "0" "1737" "0" "c.1737C>T" "r.(?)" "p.(Phe579=)" "" "0000690423" "00024012" "50" "6247" "0" "6249" "0" "c.6247_6249del" "r.(?)" "p.(Lys2083del)" "" "0000690424" "00024012" "70" "6922" "0" "6922" "0" "c.6922C>T" "r.(?)" "p.(Arg2308Cys)" "" "0000690425" "00024012" "50" "7311" "0" "7311" "0" "c.7311C>G" "r.(?)" "p.(Asn2437Lys)" "" "0000690426" "00024012" "50" "7371" "0" "7371" "0" "c.7371G>T" "r.(?)" "p.(Lys2457Asn)" "" "0000722283" "00024012" "50" "992" "0" "992" "0" "c.992A>G" "r.(?)" "p.(Gln331Arg)" "" "0000722284" "00024012" "50" "2263" "0" "2263" "0" "c.2263A>G" "r.(?)" "p.(Ile755Val)" "" "0000722285" "00024012" "30" "2889" "0" "2889" "0" "c.2889G>A" "r.(?)" "p.(Thr963=)" "" "0000722286" "00024012" "50" "5092" "0" "5092" "0" "c.5092G>C" "r.(?)" "p.(Val1698Leu)" "" "0000722287" "00024012" "30" "5469" "0" "5469" "0" "c.5469G>A" "r.(?)" "p.(Pro1823=)" "" "0000722288" "00024012" "30" "6498" "0" "6498" "0" "c.6498C>T" "r.(?)" "p.(Arg2166=)" "" "0000722289" "00024012" "50" "6794" "0" "6794" "0" "c.6794G>C" "r.(?)" "p.(Ser2265Thr)" "" "0000722290" "00024012" "30" "6810" "0" "6810" "0" "c.6810C>T" "r.(?)" "p.(Ile2270=)" "" "0000722291" "00024012" "90" "7054" "0" "7054" "0" "c.7054del" "r.(?)" "p.(Glu2352Serfs*49)" "" "0000722292" "00024012" "30" "7161" "-9" "7161" "-9" "c.7161-9C>T" "r.(=)" "p.(=)" "" "0000722293" "00024012" "30" "7392" "0" "7392" "0" "c.7392G>A" "r.(?)" "p.(Ala2464=)" "" "0000787409" "00024012" "50" "5185" "0" "5185" "0" "c.5185C>G" "r.(?)" "p.(Leu1729Val)" "41" "0000787410" "00024012" "50" "5701" "0" "5701" "0" "c.5701G>A" "r.(?)" "p.(Glu1901Lys)" "44" "0000787608" "00024012" "50" "7415" "0" "7415" "0" "c.7415G>A" "r.(?)" "p.(Arg2472His)" "57" "0000796342" "00024012" "90" "6896" "0" "6904" "0" "c.6896_6904del" "r.(?)" "p.(Trp2299_Gln2301del)" "" "0000803894" "00024012" "50" "1035" "0" "1035" "0" "c.1035G>T" "r.(?)" "p.(Gln345His)" "" "0000803895" "00024012" "30" "1303" "0" "1303" "0" "c.1303T>G" "r.(?)" "p.(Ser435Ala)" "" "0000803896" "00024012" "50" "3134" "0" "3134" "0" "c.3134G>A" "r.(?)" "p.(Arg1045Gln)" "" "0000803897" "00024012" "30" "6576" "12" "6576" "12" "c.6576+12G>A" "r.(=)" "p.(=)" "" "0000803898" "00024012" "30" "7392" "0" "7392" "0" "c.7392G>C" "r.(?)" "p.(Ala2464=)" "" "0000803899" "00024012" "90" "8038" "0" "8039" "0" "c.*604_*605del" "r.(=)" "p.(=)" "" "0000803900" "00024012" "30" "8785" "0" "8785" "0" "c.*1351G>A" "r.(=)" "p.(=)" "" "0000803901" "00024012" "50" "8832" "0" "8832" "0" "c.*1398G>C" "r.(=)" "p.(=)" "" "0000823732" "00024012" "50" "1678" "0" "1678" "0" "c.1678G>A" "r.(?)" "p.(Glu560Lys)" "" "0000852115" "00024012" "30" "1953" "0" "1953" "0" "c.1953T>C" "r.(?)" "p.(Ala651=)" "" "0000852116" "00024012" "50" "3334" "0" "3334" "0" "c.3334G>A" "r.(?)" "p.(Ala1112Thr)" "" "0000852117" "00024012" "30" "3720" "-5" "3720" "-5" "c.3720-5T>G" "r.spl?" "p.?" "" "0000852118" "00024012" "50" "4279" "0" "4279" "0" "c.4279C>T" "r.(?)" "p.(Arg1427Cys)" "" "0000852119" "00024012" "30" "6111" "0" "6111" "0" "c.6111C>T" "r.(?)" "p.(Gly2037=)" "" "0000852120" "00024012" "30" "10452" "0" "10452" "0" "c.*3018G>A" "r.(=)" "p.(=)" "" "0000861407" "00024012" "30" "6498" "0" "6498" "0" "c.6498C>T" "r.(?)" "p.(Arg2166=)" "" "0000861408" "00024012" "50" "6625" "0" "6625" "0" "c.6625G>A" "r.(?)" "p.(Asp2209Asn)" "" "0000861409" "00024012" "50" "7390" "0" "7390" "0" "c.7390G>A" "r.(?)" "p.(Ala2464Thr)" "" "0000861410" "00024012" "50" "7951" "0" "7951" "0" "c.*517C>T" "r.(=)" "p.(=)" "" "0000861411" "00024012" "30" "30727" "0" "30727" "0" "c.*23293G>A" "r.(=)" "p.(=)" "" "0000888637" "00024012" "50" "388" "0" "388" "0" "c.388C>A" "r.(?)" "p.(Gln130Lys)" "" "0000888638" "00024012" "30" "4046" "4" "4046" "4" "c.4046+4C>T" "r.spl?" "p.?" "" "0000888639" "00024012" "50" "4117" "0" "4117" "0" "c.4117G>A" "r.(?)" "p.(Gly1373Arg)" "" "0000888640" "00024012" "50" "4778" "0" "4778" "0" "c.4778A>G" "r.(?)" "p.(Lys1593Arg)" "" "0000888641" "00024012" "90" "4828" "0" "4828" "0" "c.4828C>T" "r.(?)" "p.(Arg1610Trp)" "" "0000888642" "00024012" "50" "7956" "0" "7956" "0" "c.*522G>A" "r.(=)" "p.(=)" "" "0000888643" "00024012" "30" "8887" "0" "8887" "0" "c.*1453C>T" "r.(=)" "p.(=)" "" "0000888644" "00024012" "30" "8937" "0" "8937" "0" "c.*1503C>T" "r.(=)" "p.(=)" "" "0000908551" "00024012" "50" "3161" "0" "3161" "0" "c.3161G>A" "r.(?)" "p.(Arg1054His)" "" "0000913089" "00024012" "90" "667" "0" "667" "0" "c.667G>T" "r.(?)" "p.(Glu223*)" "" "0000913091" "00024012" "90" "6104" "0" "6104" "0" "c.6104del" "r.(?)" "p.(Gln2035Argfs*33)" "" "0000924965" "00024012" "30" "2560" "3" "2560" "3" "c.2560+3G>A" "r.spl?" "p.?" "" "0000924967" "00024012" "30" "5479" "-4" "5479" "-4" "c.5479-4T>G" "r.spl?" "p.?" "" "0000929540" "00024012" "50" "4157" "0" "4157" "0" "c.4157C>T" "r.(?)" "p.(Thr1386Ile)" "" "0000935950" "00024012" "90" "3775" "0" "3778" "0" "c.3775_3778del" "r.(?)" "p.(Asp1259Ilefs*30)" "" "0000935965" "00024012" "50" "3520" "-7" "3520" "-7" "c.3520-7C>T" "r.(=)" "p.(=)" "" "0000935999" "00024012" "70" "5509" "0" "5509" "0" "c.5509G>A" "r.(?)" "p.(Asp1837Asn)" "" "0000949194" "00024012" "30" "2753" "0" "2753" "0" "c.2753A>G" "r.(?)" "p.(Tyr918Cys)" "" "0000949195" "00024012" "50" "3720" "-2" "3720" "-2" "c.3720-2A>G" "r.spl?" "p.?" "" "0000965183" "00024012" "30" "237" "4" "237" "4" "c.237+4C>T" "r.spl?" "p.?" "" "0000965184" "00024012" "30" "1154" "0" "1154" "0" "c.1154A>G" "r.(?)" "p.(Asn385Ser)" "" "0000965192" "00024012" "30" "4672" "0" "4672" "0" "c.4672C>T" "r.(?)" "p.(Arg1558Trp)" "" "0000978419" "00024012" "30" "-4" "2654" "-4" "2654" "c.-4+2654C>T" "r.(=)" "p.(=)" "" "0000978420" "00024012" "70" "5832" "2" "5832" "2" "c.5832+2T>G" "r.spl?" "p.?" "" "0000978421" "00024012" "30" "6960" "-4" "6960" "-4" "c.6960-4C>G" "r.spl?" "p.?" "" "0000978422" "00024012" "50" "7359" "0" "7359" "0" "c.7359C>G" "r.(?)" "p.(Tyr2453*)" "" "0000978423" "00024012" "50" "7857" "0" "7857" "0" "c.*423T>G" "r.(=)" "p.(=)" "" "0000978424" "00024012" "50" "8995" "0" "8995" "0" "c.*1561G>A" "r.(=)" "p.(=)" "" "0000997513" "00024012" "50" "604" "0" "604" "0" "c.604G>A" "r.(?)" "p.(Glu202Lys)" "" "0000997514" "00024012" "30" "1330" "0" "1330" "0" "c.1330G>A" "r.(?)" "p.(Val444Ile)" "" "0000997515" "00024012" "30" "1462" "0" "1462" "0" "c.1462G>C" "r.(?)" "p.(Ala488Pro)" "" "0000997516" "00024012" "30" "2378" "0" "2378" "0" "c.2378T>C" "r.(?)" "p.(Val793Ala)" "" "0000997517" "00024012" "30" "3099" "0" "3099" "0" "c.3099G>T" "r.(?)" "p.(Glu1033Asp)" "" "0000997518" "00024012" "30" "3160" "0" "3160" "0" "c.3160C>T" "r.(?)" "p.(Arg1054Cys)" "" "0000997519" "00024012" "50" "3460" "0" "3460" "0" "c.3460G>A" "r.(?)" "p.(Ala1154Thr)" "" "0000997520" "00024012" "30" "3941" "0" "3941" "0" "c.3941G>A" "r.(?)" "p.(Cys1314Tyr)" "" "0000997521" "00024012" "50" "4039" "0" "4039" "0" "c.4039G>A" "r.(?)" "p.(Asp1347Asn)" "" "0000997522" "00024012" "50" "4172" "0" "4172" "0" "c.4172G>A" "r.(?)" "p.(Arg1391Lys)" "" "0000997523" "00024012" "50" "4310" "0" "4310" "0" "c.4310G>A" "r.(?)" "p.(Arg1437His)" "" "0000997524" "00024012" "30" "4537" "0" "4537" "0" "c.4537G>A" "r.(?)" "p.(Ala1513Thr)" "" "0000997525" "00024012" "30" "4574" "0" "4574" "0" "c.4574G>A" "r.(?)" "p.(Arg1525Gln)" "" "0000997526" "00024012" "70" "4600" "0" "4600" "0" "c.4600C>T" "r.(?)" "p.(Arg1534*)" "" "0000997527" "00024012" "50" "5490" "0" "5490" "0" "c.5490C>A" "r.(?)" "p.(Asp1830Glu)" "" "0000997528" "00024012" "30" "5820" "0" "5820" "0" "c.5820C>A" "r.(?)" "p.(Asp1940Glu)" "" "0000997529" "00024012" "30" "6103" "0" "6103" "0" "c.6103C>G" "r.(?)" "p.(Gln2035Glu)" "" "0000997530" "00024012" "30" "6497" "0" "6497" "0" "c.6497G>A" "r.(?)" "p.(Arg2166His)" "" "0000997531" "00024012" "50" "7054" "0" "7056" "0" "c.7054_7056del" "r.(?)" "p.(Glu2352del)" "" "0000997532" "00024012" "50" "7154" "0" "7154" "0" "c.7154C>T" "r.(?)" "p.(Pro2385Leu)" "" "0000997533" "00024012" "30" "14874" "0" "14874" "0" "c.*7440T>G" "r.(=)" "p.(=)" "" "0001025589" "00024012" "50" "5491" "0" "5491" "0" "c.5491A>G" "r.(?)" "p.(Thr1831Ala)" "" "0001037199" "00024012" "30" "1765" "0" "1765" "0" "c.1765G>C" "r.(?)" "p.(Val589Leu)" "" "0001037200" "00024012" "30" "3099" "0" "3099" "0" "c.3099G>T" "r.(?)" "p.(Glu1033Asp)" "" "0001037201" "00024012" "30" "3719" "196" "3719" "196" "c.3719+196G>C" "r.(=)" "p.(=)" "" "0001037203" "00024012" "70" "5950" "0" "5950" "0" "c.5950C>G" "r.(?)" "p.(Leu1984Val)" "" "0001037204" "00024012" "30" "7005" "0" "7005" "0" "c.7005G>C" "r.(?)" "p.(Met2335Ile)" "" "0001037205" "00024012" "30" "8085" "0" "8085" "0" "c.*651G>A" "r.(=)" "p.(=)" "" "0001037206" "00024012" "50" "8823" "0" "8823" "0" "c.*1389G>A" "r.(=)" "p.(=)" "" "0001037207" "00024012" "50" "9015" "0" "9015" "0" "c.*1581G>A" "r.(=)" "p.(=)" "" "0001037208" "00024012" "50" "9789" "0" "9789" "0" "c.*2355G>A" "r.(=)" "p.(=)" "" "0001037209" "00024012" "50" "10429" "0" "10429" "0" "c.*2995C>T" "r.(=)" "p.(=)" "" "0001046179" "00024012" "10" "930" "17" "930" "17" "c.930+17G>A" "r.(=)" "p.(=)" "" "0001046180" "00024012" "30" "931" "-16" "931" "-16" "c.931-16C>T" "r.(=)" "p.(=)" "" "0001046181" "00024012" "10" "6111" "0" "6111" "0" "c.6111C>T" "r.(?)" "p.(Gly2037=)" "" "0001046182" "00024012" "10" "6960" "-8" "6960" "-8" "c.6960-8T>C" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 56 "{{screeningid}}" "{{variantid}}" "0000000210" "0000012731" "0000019852" "0000040314" "0000029692" "0000053076" "0000050410" "0000079390" "0000050467" "0000079447" "0000050517" "0000079497" "0000117264" "0000188343" "0000117267" "0000188538" "0000117300" "0000188145" "0000117306" "0000188151" "0000117316" "0000188161" "0000117317" "0000188162" "0000117336" "0000188181" "0000117341" "0000188186" "0000117343" "0000188188" "0000117362" "0000188466" "0000117371" "0000188216" "0000117387" "0000188232" "0000117399" "0000188244" "0000117408" "0000188253" "0000117414" "0000188259" "0000117431" "0000188484" "0000117464" "0000188309" "0000117480" "0000188505" "0000117483" "0000188328" "0000117485" "0000188511" "0000117490" "0000188363" "0000117508" "0000188338" "0000117514" "0000188517" "0000117529" "0000188525" "0000117530" "0000188368" "0000117531" "0000188370" "0000117544" "0000188383" "0000117551" "0000188391" "0000117558" "0000188399" "0000151018" "0000244177" "0000177906" "0000400808" "0000228902" "0000469164" "0000228903" "0000469165" "0000228904" "0000469166" "0000295916" "0000652605" "0000295918" "0000652607" "0000295920" "0000652609" "0000301691" "0000664723" "0000306350" "0000670038" "0000306351" "0000670039" "0000309872" "0000684774" "0000376030" "0000787608" "0000376058" "0000787409" "0000376059" "0000787410" "0000382511" "0000796342" "0000393116" "0000823732" "0000429129" "0000908551" "0000439821" "0000935950" "0000439836" "0000935965" "0000439870" "0000935999"