### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SCN8A) # 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}}" "SCN8A" "sodium channel, voltage gated, type VIII, alpha subunit" "12" "q13.1" "unknown" "LRG_1389" "UD_132119051640" "" "https://www.LOVD.nl/SCN8A" "" "1" "10596" "6334" "600702" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "" "" "1" "" "" "-1" "" "-1" "00002" "2012-03-09 00:00:00" "00006" "2021-05-28 11:53:30" "00006" "2025-11-13 13:04:16" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00025619" "SCN8A" "transcript variant 1" "000" "NM_014191.3" "" "NP_055006.1" "" "" "" "-178" "11392" "5943" "51985020" "52206648" "00006" "2021-05-28 11:43:18" "" "" "00025703" "SCN8A" "transcript variant 3" "000" "NM_001330260.2" "" "NP_001317189.1" "" "" "" "-181" "11378" "5943" "51985017" "52206648" "00006" "2022-04-07 20:15:29" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 18 "{{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" "" "" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00152" "CHD" "heart disease, congenital (CHD)" "" "" "" "" "" "00008" "2013-06-19 09:27:11" "00006" "2015-01-23 22:14:45" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "00841" "EIEE" "encephalopathy, epileptic, early infantile (EIEE)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-02-20 16:58:56" "02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03601" "CIAT" "cognitive impairment, ataxia, cerebellar (CIAT)" "AD" "614306" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-10-25 11:02:39" "03678" "DEE13" "encephalopathy, developmental and epileptic, type 13 (DEE13)" "AD" "614558" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-08-11 11:46:44" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05330" "TSC" "tuberous sclerosis" "" "" "" "" "" "00006" "2017-09-19 09:35:08" "00006" "2022-08-19 09:49:37" "05356" "ataxia" "ataxia" "" "" "" "" "" "00006" "2017-12-21 19:14:03" "" "" "05378" "BMD/DMD" "dystrophinopathy (BMD or DMD)" "" "" "" "" "" "00006" "2018-01-13 20:18:25" "00006" "2019-03-26 16:49:54" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06172" "BFIS5" "Seizures, benign familial infantile, 5" "AD" "617080" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "06198" "MYOCL2" "?Myoclonus, familial, 2" "AD" "618364" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "SCN8A" "03601" "SCN8A" "03678" "SCN8A" "06172" "SCN8A" "06198" ## Individuals ## Do not remove or alter this header ## ## Count = 72 "{{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}}" "00000019" "" "" "" "1" "" "00004" "{PMID:Almomani 2011:21102627}" "" "" "" "" "" "0" "" "" "" "" "00000029" "" "" "" "1" "" "00004" "{PMID:Almomani 2011:21102627}" "" "" "" "" "" "0" "" "" "" "" "00050493" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050640" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00054867" "" "" "" "1" "" "01479" "{PMID:van de Warrenburg 2016:27165006}, {DOI:van de Warrenburg 2016: 10.1038/ejhg.2016.42}" "" "M" "" "" "" "0" "" "" "" "Pat4" "00107906" "" "" "" "1" "" "00006" "{PMID:Veeramah 2012:22365152}" "" "F" "?" "United States" "" "0" "" "" "" "" "00116839" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_170:0/1:CONTROL" "00116842" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_173:0/1:CONTROL" "00116864" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_225:0/1:CONTROL" "00116887" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_275:0/1:CONTROL" "00163785" "" "" "" "5" "" "02450" "Wagnon et al, Human Mutation 2018" "family, 5 affecteds" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "II-2" "00163833" "" "" "" "1" "" "00006" "{PMID:Wagnon 2017:28702509}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "28702509-Pat1" "00163834" "" "" "" "1" "" "00006" "{PMID:Wagnon 2017:28702509}" "2-generation family, 1 affected, unaffected non-carrier mother" "M" "" "United States" "" "0" "" "" "" "28702509-Pat2" "00163835" "" "" "" "4" "" "00006" "{PMID:Trudeau 2006:16236810}" "3-generation family, carrier patient, mother (I2), maternal aunt (I3) and cousin (II5)" "M" "no" "United States" "" "0" "" "" "" "16236810-PatII2" "00177013" "" "" "" "1" "" "02552" "" "" "M" "no" "" "" "0" "" "" "white (ancestors from Austra and Russia)" "43092" "00208911" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00234403" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00266256" "" "" "" "1" "" "03451" "" "" "F" "" "Canada" "" "0" "" "" "" "" "00269539" "" "" "" "1" "" "03512" "{PMID:Minardi 2020:32725632}" "" "M" "" "Italy" "" "0" "" "" "" "" "00274674" "" "" "" "1" "" "00006" "contact me for details" "" "M" "" "Israel" "" "0" "" "" "" "private email" "00275570" "" "" "" "1" "" "00006" "{PMID:Hughes 2020:31883643}" "" "M" "" "" "" "0" "" "" "" "Pat10" "00290740" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290741" "" "" "" "80" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290742" "" "" "" "15" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290743" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00301269" "" "" "" "1" "" "03512" "{PMID:Minardi 2020:32725632}" "" "M" "" "Italy" "" "" "" "" "" "" "00302681" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00303142" "" "" "" "1" "" "00006" "{PMID:Carvill 2013:23708187}" "" "M" "" "" "" "0" "" "" "" "T3929" "00303160" "" "" "" "1" "" "00006" "{PMID:Carvill 2013:23708187}" "" "" "" "" "" "0" "" "" "" "T2657" "00303161" "" "" "" "1" "" "00006" "{PMID:Carvill 2013:23708187}" "" "" "" "" "" "0" "" "" "" "T20187" "00304368" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00306010" "" "" "" "1" "" "00006" "{PMID:Johannesen 2020:32427350}, {PMID:Wengert 2019:31625145}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Denmark" "" "0" "" "" "" "Pat41" "00306133" "" "" "" "1" "" "03695" "" "" "M" "" "China" "" "" "" "" "" "67" "00307767" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5411661" "00320162" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00329094" "" "" "" "1" "" "01164" "" "submission for publication Schoen et al.; 2021: sudden unexplained death" "?" "?" "Germany" "00y03m" "0" "" "" "" "155450" "00373721" "" "" "" "1" "" "01864" "" "" "M" "no" "China" "" "0" "" "" "Chinese" "iw141" "00374185" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4199" "00374806" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2534" "00374831" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2313" "00374842" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4211" "00374843" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-752" "00374844" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5997" "00387848" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals, third cousin parents" "" "yes" "Iran" "" "0" "" "" "Persia" "M8900186" "00402911" "" "" "" "1" "" "01164" "" "" "F" "no" "Greece" "" "0" "" "" "" "190647" "00407680" "" "" "" "1" "" "01164" "" "" "F" "" "Iraq" "" "0" "" "" "" "194419" "00422348" "" "" "" "1" "" "01164" "" "" "F" "no" "Russia" "" "0" "" "" "" "208204" "00436384" "" "" "" "1" "" "04459" "" "" "" "" "" "" "0" "" "" "" "patient" "00438304" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat22" "00438318" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat36" "00438409" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "F" "" "China" "" "0" "" "" "" "Pat128" "00438571" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSC0017" "00438607" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSC0063" "00438612" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSC0079" "00438622" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSC0097" "00438680" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSJ0673" "00447935" "" "" "" "1" "" "00006" "{PMID:Ostrander 2018:30109124}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "Pat3" "00447937" "" "" "" "1" "" "00006" "{PMID:Malcolmson 2016:27900360}, {PMID:Ostrander 2018:30109124}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "Patient;Pat5" "00447944" "" "" "" "1" "" "00006" "{PMID:Ostrander 2018:30109124}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "Pat12" "00453464" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "303529" "00453805" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV433" "00455771" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "F" "" "" "" "0" "" "" "" "Pat11" "00457557" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00459412" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" "00466218" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "306402" "00466379" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" "00469336" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469337" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469338" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469339" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469340" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469341" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 72 "{{individualid}}" "{{diseaseid}}" "00000019" "00138" "00000019" "05330" "00000019" "05378" "00050493" "00198" "00050640" "00198" "00054867" "00841" "00107906" "03678" "00116839" "00000" "00116842" "00000" "00116864" "00000" "00116887" "00000" "00163785" "00198" "00163833" "00139" "00163834" "00139" "00163835" "00139" "00177013" "00344" "00234403" "00198" "00266256" "05356" "00269539" "00344" "00274674" "00198" "00275570" "00198" "00290740" "00198" "00290741" "00198" "00290742" "00198" "00290743" "00198" "00301269" "00841" "00302681" "00198" "00303142" "00344" "00303160" "00344" "00303161" "00344" "00304368" "00198" "00306010" "04270" "00306133" "03678" "00307767" "00139" "00320162" "00198" "00329094" "02087" "00373721" "00198" "00374185" "00198" "00374806" "00198" "00374831" "00198" "00374842" "00198" "00374843" "00198" "00374844" "00198" "00387848" "00139" "00402911" "03678" "00407680" "03678" "00422348" "03678" "00436384" "06172" "00438304" "04270" "00438318" "04270" "00438409" "04270" "00438571" "06906" "00438607" "06906" "00438612" "06906" "00438622" "06906" "00438680" "06906" "00447935" "00841" "00447937" "00841" "00447944" "00841" "00453464" "03678" "00453805" "00152" "00455771" "00198" "00457557" "05611" "00459412" "05611" "00466218" "03678" "00466379" "05611" "00469336" "00198" "00469337" "00198" "00469338" "00198" "00469339" "00198" "00469340" "00198" "00469341" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00138, 00139, 00152, 00198, 00344, 00841, 02087, 03601, 03678, 04270, 05330, 05356, 05378, 05611, 06172, 06198, 06906 ## Count = 59 "{{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}}" "0000037105" "00198" "00050493" "00006" "Isolated (sporadic)" "" "intellectual disability, seizures, scoliosis, nystagmus, narrow palm, generalized myoclonic seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000037252" "00198" "00050640" "00006" "Isolated (sporadic)" "" "microcephaly, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041531" "00841" "00054867" "01479" "Isolated (sporadic)" "" "ataxia, ID, spasticity, epilepsy" "00y06m" "" "" "" "" "" "" "" "" "" "" "" "" "EIEE13" "cerebellar ataxia" "" "0000085660" "03678" "00107906" "00006" "Isolated (sporadic)" "06m" "early-onset seizures, features of autism, intellectual disability, ataxia, sudden unexplained death in epilepsy at 15y of age; Infantile epileptic encephalopathy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128946" "00198" "00163785" "02450" "Familial, autosomal dominant" "" "subcortical" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "nonepileptic myoclonus, familial" "" "0000128947" "00139" "00163833" "00006" "Isolated (sporadic)" "" "social communication disorder, minimal interaction with peers, good eye contact; global delay walk, 18m-talk; EEG normal, no seizures; hypotonia, motor delay improved with time; 6y-ADHD, special education, chronic headache, finger chewing; borderline intellectual disability (HP:0006889)" "" "" "" "" "" "" "" "" "" "borderline" "" "" "" "" "language disorder, borderline intellectual function" "" "0000128948" "00139" "00163834" "00006" "Isolated (sporadic)" "" "IQ 56; temper tantrums; global motor delay, severe speech delay; no seizures; MRI normal, metabolism normal; unstable gait, resolved; mild intellectual disability (HP:0001256); severe speech delay (HP:0000750)" "" "" "" "" "" "" "" "" "" "mild" "" "" "" "" "intellectual disability" "" "0000128949" "00139" "00163835" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation, cerebellar atrophy, ataxia" "" "0000141830" "00344" "00177013" "02552" "Familial, autosomal dominant" "" "HP:0001252\r\nHP:0002066\r\nHP:0100807\r\nHP:0006184\r\nHP:0000767" "00y03m" "" "" "" "" "" "" "" "" "" "" "" "" "Epileptic encephalopathy, early infantile, 13" "" "" "0000157519" "00198" "00208911" "01164" "Unknown" "" "HP:0002373 (Febrile seizures); HP:0001250 (Seizures); HP:0012638 (Abnormality of nervous system physiology)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000174814" "00198" "00234403" "01807" "Unknown" "" "Psychomotor retardation (HP:0025356); Muscular hypotonia (HP:0001252); Ataxia (HP:0001251); Dysarthria (HP:0001260); Behavioral abnormality (HP:0000708); Intellectual disability (HP:0001249); Areflexia (HP:0001284); Demyelinating peripheral neuropathy (HP:0007108)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000204149" "05356" "00266256" "03451" "Unknown" "" "ataxia spastic, cataract" "" "" "" "" "" "" "" "" "" "" "" "" "" "CIAT" "ataxia spastic, cataracts" "" "0000207370" "00344" "00269539" "03512" "Unknown" "" "Epileptic Encephalopathy (HP:0200134)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000210186" "00198" "00275570" "00006" "Isolated (sporadic)" "2y" "see paper; ..., brain MRI unremarkable; grade 2 hypospadias, cryptorchidism, removal of right inguinal hernia identified as a fallopian tube, and uterus; normal head, normal face; developmental delay" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000228539" "00841" "00301269" "03512" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "yes" "" "" "" "" "" "" "0000229765" "00198" "00302681" "01164" "Unknown" "" "Seizures (HP:0001250); Global developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230226" "00344" "00303142" "00006" "Isolated (sporadic)" "" "epileptic encephalopathy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "epileptic encephalopathy" "" "0000230244" "00344" "00303160" "00006" "Unknown" "" "epileptic encephalopathy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "epileptic encephalopathy" "" "0000230245" "00344" "00303161" "00006" "Unknown" "" "epileptic encephalopathy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "epileptic encephalopathy" "" "0000231856" "04270" "00306010" "00006" "Familial, autosomal recessive" "27y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000231976" "03678" "00306133" "03695" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242208" "00198" "00320162" "01807" "Unknown" "" "Microcephaly (HP:0000252); Enuresis (HP:0000805); Intellectual disability (HP:0001249); Global developmental delay (HP:0001263); EEG abnormality (HP:0002353); Encopresis (HP:0040183)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000247291" "02087" "00329094" "01164" "Unknown" "" "sids" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000268946" "00198" "00373721" "01864" "Familial, autosomal dominant" "" "HP:0004325; HP:0001252; HP:0001250; HP:0001249; HP:0001631; HP:0001263" "" "" "" "" "" "" "" "" "" "" "" "" "" "Developmental and epileptic encephalopathy 13 (614558)" "" "" "0000269395" "00198" "00374185" "00006" "Familial, autosomal recessive" "" "Seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000270016" "00198" "00374806" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "epilepsy, autism spectrum disorder" "" "0000270041" "00198" "00374831" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000270052" "00198" "00374842" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000270053" "00198" "00374843" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000270054" "00198" "00374844" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000281416" "00139" "00387848" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, microcephaly" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000295663" "03678" "00402911" "01164" "Unknown" "62y" "Seizure, Dysarthria, Chorea, Psychomotor deterioration, Hypokinesia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000299827" "03678" "00407680" "01164" "Unknown" "08y" "Microcephaly, Neurodevelopmental delay, Absent speech, Seizure, Hypotonia, Strabismus, Scoliosis, Myoclonic seizure, Coloboma, Generalized tonic seizure, Dystonia, Failure to thrive, Short stature, EMG: positive sharp waves, Intellectual disability, profound, Partial agenesis of the corpus callosum, Abnormal cortical gyration" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000313561" "03678" "00422348" "01164" "Familial" "07y" "Intellectual disability, Delayed speech and language development, Poor fine motor coordination, Family history" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000326564" "06172" "00436384" "04459" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000328208" "04270" "00438304" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures" "5m" "" "" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000328222" "04270" "00438318" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures" "2y6m" "" "" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000328313" "04270" "00438409" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0011171 simple febrile seizures; HP:0001903 anemia; HP:0001942 metabolic acidosis" "3m" "" "" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000328474" "06906" "00438571" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000328510" "06906" "00438607" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000328515" "06906" "00438612" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000328525" "06906" "00438622" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000328583" "06906" "00438680" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000337128" "00841" "00447935" "00006" "Isolated (sporadic)" "" "see paper; ..., hypoxic ischemic encephalopathy, global developmental delay, chronic respiratory failure, spasticity, dysphagia, cardiac arrest; seizure types generalized tonic, flexor spasms; EEG Slow background, frontal spike wave discharges; MRI brain abnormal diffusion restriction bifrontal and left temporal" "<1m" "" "" "" "" "" "" "" "" "" "" "" "" "DEE13" "early infantile epileptic encephalopathy" "" "0000337130" "00841" "00447937" "00006" "Isolated (sporadic)" "04y" "see paper; ..., global developmental delay, postnatal microcephaly, spastic quadriparetic CP, chorea, dystonia; seizure types focal onset with secondary generalized tonic clonic; EEG Focal slowing; MRI brain normal" "00y02m" "" "" "" "" "" "" "" "" "" "" "" "" "DEE13" "early infantile epileptic encephalopathy" "" "0000337137" "00841" "00447944" "00006" "Isolated (sporadic)" "" "see paper; ..., global developmental delay, hypotonia, constipation; seizure types generalized tonic spasms, atonic; EEG Slow and disorganized background, multifocal and generalized spike wave; MRI brain normal" "6m" "" "" "" "" "" "" "" "" "" "" "" "" "DEE13" "early infantile epileptic encephalopathy" "" "0000342128" "03678" "00453464" "01164" "Unknown" "09y" "Neurodevelopmental delay, Autism, Absent speech, Receptive language delay, Seizure, Positional foot deformity, Intellectual disability, Delayed gross motor development" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000342462" "00152" "00453805" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000344304" "00198" "00455771" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "DEE13" "neurogenetic diseases" "" "0000346021" "05611" "00457557" "03544" "Familial" "" "HP:0002342, HP:0001270, HP:0002121, HP:0000343, HP:0001250" "" "" "" "" "" "" "" "" "" "" "" "" "" "SCN8A-related disorder" "complex neurodevelopmental disorder" "" "0000347488" "05611" "00459412" "03544" "Isolated (sporadic)" "" "HP:0000717, HP:0001263" "" "" "" "" "" "" "" "" "" "" "" "" "" "CIAT" "neurodevelopmental disorder" "" "0000351600" "03678" "00466218" "01164" "Unknown" "00y04m" "Seizure, Neonatal seizure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351743" "05611" "00466379" "03544" "Isolated (sporadic)" "" "HP:0000717, HP:0000729, HP:0002342, HP:0001288, HP:0007018, HP:0000708" "" "" "" "" "" "" "" "" "" "" "" "" "" "CIAT, DEE13" "complex neurodevelopmental disorder" "" "0000354489" "00198" "00469336" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" "0000354490" "00198" "00469337" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "seizures" "" "0000354491" "00198" "00469338" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" "0000354492" "00198" "00469339" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" "0000354493" "00198" "00469340" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" "0000354494" "00198" "00469341" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" ## Screenings ## Do not remove or alter this header ## ## Count = 72 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000019" "00000019" "1" "00004" "" "2012-05-11 13:18:40" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000029" "00000029" "1" "00004" "" "2012-05-11 13:18:42" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000050438" "00050493" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050585" "00050640" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000054819" "00054867" "1" "01479" "01479" "2015-11-30 15:38:02" "" "" "SEQ-NG" "DNA" "" "" "0000108375" "00107906" "1" "00006" "00002" "2012-05-24 16:00:14" "" "" "SEQ-NG-I" "DNA" "" "" "0000117307" "00116839" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117310" "00116842" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117332" "00116864" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117355" "00116887" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000164649" "00163785" "1" "02450" "02450" "2018-04-12 05:45:48" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000164696" "00163833" "1" "00006" "00006" "2018-04-16 22:33:19" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000164697" "00163834" "1" "00006" "00006" "2018-04-16 22:41:14" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000164698" "00163835" "1" "00006" "00006" "2018-04-16 22:49:21" "" "" "SEQ" "DNA" "" "" "0000177905" "00177013" "1" "02552" "02552" "2018-08-16 11:44:34" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000209966" "00208911" "1" "01164" "01164" "2018-12-20 13:06:23" "" "" "SEQ-NG" "DNA" "" "" "0000235506" "00234403" "1" "01807" "01807" "2019-05-16 12:06:26" "" "" "SEQ" "DNA" "" "" "0000267471" "00266256" "1" "03451" "03451" "2019-10-23 20:28:18" "00006" "2019-10-25 11:06:06" "SEQ" "DNA" "" "" "0000270693" "00269539" "1" "03512" "03512" "2019-11-29 12:04:02" "" "" "SEQ-NG-I" "DNA" "" "" "0000275834" "00274674" "1" "00006" "00006" "2020-01-02 12:08:35" "" "" "SEQ" "DNA" "" "" "0000276729" "00275570" "1" "00006" "00006" "2020-01-08 19:20:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000291908" "00290740" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291909" "00290741" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291910" "00290742" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291911" "00290743" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000302393" "00301269" "1" "03512" "03512" "2020-05-11 21:03:34" "" "" "SEQ-NG-I" "DNA" "" "" "0000303807" "00302681" "1" "01164" "01164" "2020-05-29 15:05:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000304267" "00303142" "1" "00006" "00006" "2020-06-07 12:54:10" "" "" "MIP;SEQ;SEQ-NG" "DNA" "" "65-gene panel" "0000304285" "00303160" "1" "00006" "00006" "2020-06-07 12:54:10" "" "" "MIP;SEQ;SEQ-NG" "DNA" "" "65-gene panel" "0000304286" "00303161" "1" "00006" "00006" "2020-06-07 12:54:10" "" "" "MIP;SEQ;SEQ-NG" "DNA" "" "65-gene panel" "0000305497" "00304368" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000307140" "00306010" "1" "00006" "00006" "2020-07-06 16:08:38" "" "" "SEQ;SEQ-NG" "DNA" "" "candidate gene panel" "0000307264" "00306133" "1" "03695" "03695" "2020-07-08 20:52:19" "" "" "SEQ-NG" "DNA" "" "" "0000308907" "00307767" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000321347" "00320162" "1" "01807" "01807" "2020-11-23 17:38:30" "" "" "SEQ" "DNA" "" "" "0000330311" "00329094" "1" "01164" "01164" "2021-02-03 16:32:19" "" "" "SEQ-NG-I" "DNA" "" "" "0000374954" "00373721" "1" "01864" "01864" "2021-05-19 08:00:18" "" "" "SEQ-NG" "DNA" "blood" "WGS" "0000375379" "00374185" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000376000" "00374806" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000376025" "00374831" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000376036" "00374842" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000376037" "00374843" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000376038" "00374844" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000389079" "00387848" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000404152" "00402911" "1" "01164" "01164" "2022-02-14 12:12:56" "" "" "SEQ-NG-I" "DNA" "" "" "0000408932" "00407680" "1" "01164" "01164" "2022-04-07 16:06:02" "" "" "SEQ-NG-I" "DNA" "" "" "0000423659" "00422348" "1" "01164" "01164" "2022-11-09 17:35:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000437867" "00436384" "1" "04459" "04459" "2023-09-06 10:44:20" "" "" "SEQ-NG" "DNA" "" "" "0000439786" "00438304" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000439800" "00438318" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000439891" "00438409" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000440053" "00438571" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000440089" "00438607" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000440094" "00438612" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000440104" "00438622" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000440162" "00438680" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000449506" "00447935" "1" "00006" "00006" "2024-02-02 18:50:24" "" "" "arrayCGH;SEQ;SEQ-NG" "DNA" "" "WGS" "0000449508" "00447937" "1" "00006" "00006" "2024-02-02 18:50:24" "" "" "arrayCGH;SEQ;SEQ-NG" "DNA" "" "WGS" "0000449515" "00447944" "1" "00006" "00006" "2024-02-02 18:50:24" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000455078" "00453464" "1" "01164" "01164" "2024-09-03 15:50:50" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000455417" "00453805" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000457387" "00455771" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000459177" "00457557" "1" "03544" "03544" "2024-11-14 06:38:44" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000461035" "00459412" "1" "03544" "03544" "2024-12-27 08:13:38" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000467874" "00466218" "1" "01164" "01164" "2025-08-11 16:53:47" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000468041" "00466379" "1" "03544" "03544" "2025-08-27 07:58:44" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000471004" "00469336" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471005" "00469337" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471006" "00469338" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471007" "00469339" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471008" "00469340" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471009" "00469341" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 88 "{{screeningid}}" "{{geneid}}" "0000000019" "AFF2" "0000000019" "ALG12" "0000000019" "ALG6" "0000000019" "B3GLCT" "0000000019" "B4GALT1" "0000000019" "BBS12" "0000000019" "CDK5RAP2" "0000000019" "CENPJ" "0000000019" "CRBN" "0000000019" "DHCR7" "0000000019" "EP300" "0000000019" "IL1RAPL1" "0000000019" "KDM5C" "0000000019" "KRAS" "0000000019" "MCPH1" "0000000019" "MED12" "0000000019" "NSD1" "0000000019" "NUFIP1" "0000000019" "POMT1" "0000000019" "RAB3GAP2" "0000000019" "RAF1" "0000000019" "SATB2" "0000000019" "SCN8A" "0000000019" "SIL1" "0000000019" "TSC1" "0000000029" "ALG9" "0000000029" "ASPM" "0000000029" "B3GLCT" "0000000029" "BBS1" "0000000029" "CBS" "0000000029" "CC2D1A" "0000000029" "CDK5RAP2" "0000000029" "DLG3" "0000000029" "DNMT3B" "0000000029" "DPM1" "0000000029" "DPP3" "0000000029" "GLI3" "0000000029" "JAG1" "0000000029" "KRAS" "0000000029" "MECP2" "0000000029" "MPDU1" "0000000029" "NLGN4X" "0000000029" "NSD1" "0000000029" "PHF8" "0000000029" "PMM2" "0000000029" "RAI1" "0000000029" "REST" "0000000029" "SATB2" "0000000029" "SCN8A" "0000000029" "SHANK3" "0000000029" "SLC35C1" "0000000029" "TCF4" "0000000029" "TSC1" "0000000029" "UPF3B" "0000000029" "ZEB2" "0000000029" "ZNF41" "0000050438" "SCN8A" "0000050585" "SCN8A" "0000054819" "SCN8A" "0000108375" "SCN8A" "0000164696" "SCN8A" "0000164697" "SCN8A" "0000164698" "SCN8A" "0000267471" "SCN8A" "0000275834" "SCN8A" "0000276729" "PPP1R12A" "0000304267" "SCN8A" "0000304285" "SCN8A" "0000304286" "SCN8A" "0000307140" "SCN8A" "0000307264" "SCN8A" "0000308907" "SCN8A" "0000330311" "RYR2" "0000330311" "SCN8A" "0000374954" "SCN8A" "0000375379" "ALDH7A1" "0000376000" "PIGN" "0000376025" "SCN1A" "0000376036" "SCN8A" "0000376037" "SCN8A" "0000376038" "SCN8A" "0000389079" "SCN8A" "0000404152" "SCN8A" "0000408932" "SCN8A" "0000423659" "SCN8A" "0000437867" "SCN8A" "0000455078" "SCN8A" "0000467874" "SCN8A" ## 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 = 334 "{{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}}" "0000000291" "3" "30" "12" "52163322" "52163322" "subst" "0" "00002" "SCN8A_000009" "g.52163322G>C" "" "{PMID:Almomani 2011:21102627}" "" "" "" "Germline" "" "rs303809" "0" "" "" "g.51769538G>C" "" "likely benign" "" "0000000292" "3" "50" "12" "52163248" "52163248" "subst" "0" "00002" "SCN8A_000002" "g.52163248A>G" "" "{PMID:Almomani 2011:21102627} {dbSNP:303810}" "" "" "" "Germline" "" "" "" "" "" "g.51769464A>G" "" "VUS" "" "0000000293" "3" "50" "12" "52183485" "52183485" "subst" "0" "00002" "SCN8A_000003" "g.52183485C>T" "" "{PMID:Almomani 2011:21102627} {dbSNP:303816}" "" "" "" "Germline" "" "" "" "" "" "g.51789701C>T" "" "VUS" "" "0000000294" "1" "50" "12" "52163789" "52163789" "subst" "0.80703" "00002" "SCN8A_000004" "g.52163789G>A" "" "{PMID:Almomani 2011:21102627} {dbSNP:303808}" "" "" "" "Germline" "" "" "" "" "" "g.51770005G>A" "" "VUS" "" "0000000295" "1" "50" "12" "52184271" "52184271" "subst" "0.659094" "00002" "SCN8A_000005" "g.52184271T>C" "" "{PMID:Almomani 2011:21102627} {dbSNP:303815}" "" "" "" "Germline" "" "" "" "" "" "g.51790487T>C" "" "VUS" "" "0000000296" "0" "50" "12" "52162823" "52162823" "subst" "0.0117727" "00002" "SCN8A_000006" "g.52162823C>T" "" "{PMID:Almomani 2011:21102627}" "" "" "" "Germline" "" "" "" "" "" "g.51769039C>T" "" "VUS" "" "0000079418" "0" "90" "12" "52200143" "52200143" "subst" "0" "00006" "SCN8A_000007" "g.52200143G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.51806359G>A" "" "pathogenic" "" "0000079565" "0" "90" "12" "52082570" "52082570" "subst" "0" "00006" "SCN8A_000008" "g.52082570A>G" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.51688786A>G" "" "pathogenic" "" "0000084835" "0" "90" "12" "52183134" "52183134" "subst" "0" "01479" "SCN8A_000010" "g.52183134G>A" "" "{PMID:van de Warrenburg 2016:27165006}, {DOI:van de Warrenburg 2016: 10.1038/ejhg.2016.42}" "" "" "" "De novo" "" "" "0" "" "" "g.51789350G>A" "" "pathogenic" "" "0000174301" "1" "90" "12" "52200572" "52200572" "subst" "0" "00006" "SCN8A_000001" "g.52200572A>G" "" "{PMID:Veeramah 2012:22365152}" "MnlI+" "" "" "De novo" "" "" "0" "" "" "g.51806788A>G" "" "pathogenic" "" "0000188155" "0" "50" "12" "52163015" "52163015" "subst" "0" "02192" "SCN8A_000014" "g.52163015C>A" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.51769231C>A" "" "VUS" "" "0000188177" "0" "50" "12" "52162791" "52162791" "subst" "0" "02192" "SCN8A_000013" "g.52162791T>C" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.51769007T>C" "" "VUS" "" "0000188200" "0" "50" "12" "52094924" "52094924" "subst" "1.62801E-5" "02192" "SCN8A_000011" "g.52094924C>G" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.51701140C>G" "" "VUS" "" "0000188453" "0" "50" "12" "52115411" "52115411" "subst" "1.65151E-5" "02192" "SCN8A_000012" "g.52115411C>T" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.51721627C>T" "" "VUS" "" "0000249562" "0" "30" "12" "52156281" "52156281" "subst" "0.00148895" "02325" "SCN8A_000083" "g.52156281A>G" "" "" "" "SCN8A(NM_014191.4):c.2371-6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51762497A>G" "" "likely benign" "" "0000251932" "0" "30" "12" "52180495" "52180495" "subst" "0" "02326" "SCN8A_000084" "g.52180495A>G" "" "" "" "SCN8A(NM_014191.4):c.4112A>G (p.N1371S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51786711A>G" "" "likely benign" "" "0000252375" "0" "70" "12" "52200880" "52200880" "subst" "0" "02326" "SCN8A_000065" "g.52200880A>T" "" "" "" "SCN8A(NM_014191.4):c.5610A>T (p.E1870D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51807096A>T" "" "likely pathogenic" "" "0000252412" "0" "70" "12" "52080171" "52080171" "subst" "0" "02326" "SCN8A_000017" "g.52080171A>C" "" "" "" "SCN8A(NM_014191.4):c.415A>C (p.M139L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51686387A>C" "" "likely pathogenic" "" "0000253858" "0" "10" "12" "52182545" "52182545" "subst" "0.132154" "01943" "SCN8A_000052" "g.52182545A>G" "" "" "" "SCN8A(NM_014191.3):c.4281+13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51788761A>G" "" "benign" "" "0000254719" "0" "30" "12" "52200776" "52200776" "subst" "2.4369E-5" "01943" "SCN8A_000062" "g.52200776A>G" "" "" "" "SCN8A(NM_014191.3):c.5506A>G (p.M1836V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51806992A>G" "" "likely benign" "" "0000298007" "0" "10" "12" "52139682" "52139682" "dup" "0" "02325" "SCN8A_000031" "g.52139682dup" "" "" "" "SCN8A(NM_014191.4):c.1999-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51745898dup" "" "benign" "" "0000298008" "0" "10" "12" "52159448" "52159448" "dup" "0" "02325" "SCN8A_000037" "g.52159448dup" "" "" "" "SCN8A(NM_014191.3):c.2545-7dupT, SCN8A(NM_014191.4):c.2545-7dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51765664dup" "" "benign" "" "0000298009" "0" "10" "12" "52163789" "52163789" "subst" "0.80703" "02325" "SCN8A_000004" "g.52163789G>A" "" "" "" "SCN8A(NM_014191.3):c.3490+20G>A, SCN8A(NM_014191.4):c.3490+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51770005G>A" "" "benign" "" "0000298010" "0" "30" "12" "52164368" "52164368" "subst" "0" "02325" "SCN8A_000046" "g.52164368G>A" "" "" "" "SCN8A(NM_014191.4):c.3546G>A (p.K1182=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51770584G>A" "" "likely benign" "" "0000298011" "0" "30" "12" "52164465" "52164465" "subst" "3.25145E-5" "02325" "SCN8A_000047" "g.52164465C>T" "" "" "" "SCN8A(NM_014191.4):c.3643C>T (p.L1215=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51770681C>T" "" "likely benign" "" "0000298012" "0" "10" "12" "52174435" "52174435" "subst" "0.00176549" "02325" "SCN8A_000050" "g.52174435C>T" "" "" "" "SCN8A(NM_001330260.1):c.3822C>T (p.V1274=), SCN8A(NM_014191.4):c.3822C>T (p.V1274=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51780651C>T" "" "benign" "" "0000298013" "0" "10" "12" "52184271" "52184271" "subst" "0.659094" "02325" "SCN8A_000005" "g.52184271T>C" "" "" "" "SCN8A(NM_014191.3):c.4509T>C (p.P1503=), SCN8A(NM_014191.4):c.4509T>C (p.P1503=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51790487T>C" "" "benign" "" "0000298014" "0" "30" "12" "52188378" "52188378" "subst" "0.000203112" "02325" "SCN8A_000054" "g.52188378T>C" "" "" "" "SCN8A(NM_001330260.2):c.4748T>C (p.(Ile1583Thr)), SCN8A(NM_014191.4):c.4748T>C (p.I1583T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51794594T>C" "" "likely benign" "" "0000298015" "0" "30" "12" "52200316" "52200316" "subst" "0.000121825" "02325" "SCN8A_000059" "g.52200316C>T" "" "" "" "SCN8A(NM_014191.4):c.5046C>T (p.I1682=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51806532C>T" "" "likely benign" "" "0000298016" "0" "10" "12" "52200742" "52200742" "subst" "0.654304" "02325" "SCN8A_000061" "g.52200742C>A" "" "" "" "SCN8A(NM_014191.3):c.5472C>A (p.P1824=), SCN8A(NM_014191.4):c.5472C>A (p.P1824=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51806958C>A" "" "benign" "" "0000298017" "0" "10" "12" "52080965" "52080965" "subst" "0.847072" "02325" "SCN8A_000018" "g.52080965C>T" "" "" "" "SCN8A(NM_014191.3):c.576C>T (p.D192=), SCN8A(NM_014191.4):c.576C>T (p.D192=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51687181C>T" "" "benign" "" "0000299355" "0" "50" "12" "52093375" "52093375" "subst" "0" "02329" "SCN8A_000022" "g.52093375C>T" "" "" "" "SCN8A(NM_014191.4):c.728C>T (p.A243V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51699591C>T" "" "VUS" "" "0000301941" "0" "10" "12" "52139682" "52139682" "del" "0" "02326" "SCN8A_000030" "g.52139682del" "" "" "" "SCN8A(NM_014191.4):c.1999-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51745898del" "" "benign" "" "0000301942" "0" "30" "12" "52139682" "52139682" "subst" "0" "02326" "SCN8A_000032" "g.52139682T>A" "" "" "" "SCN8A(NM_014191.4):c.1999-5T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51745898T>A" "" "likely benign" "" "0000301943" "0" "10" "12" "52145089" "52145089" "subst" "0.00109737" "02326" "SCN8A_000035" "g.52145089T>G" "" "" "" "SCN8A(NM_014191.4):c.2132-50T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51751305T>G" "" "benign" "" "0000301944" "0" "10" "12" "52159448" "52159448" "dup" "0" "02326" "SCN8A_000037" "g.52159448dup" "" "" "" "SCN8A(NM_014191.3):c.2545-7dupT, SCN8A(NM_014191.4):c.2545-7dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51765664dup" "" "benign" "" "0000301945" "0" "30" "12" "52159449" "52159449" "subst" "0" "02326" "SCN8A_000039" "g.52159449C>A" "" "" "" "SCN8A(NM_014191.4):c.2545-6C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51765665C>A" "" "likely benign" "" "0000301947" "0" "70" "12" "52162689" "52162689" "subst" "0" "02326" "SCN8A_000041" "g.52162689G>C" "" "" "" "SCN8A(NM_014191.4):c.2942G>C (p.S981T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51768905G>C" "" "likely pathogenic" "" "0000301948" "0" "30" "12" "52162823" "52162823" "subst" "0.0117727" "02326" "SCN8A_000006" "g.52162823C>T" "" "" "" "SCN8A(NM_001177984.2):c.3076C>T (p.(Arg1026Cys)), SCN8A(NM_014191.4):c.3076C>T (p.R1026C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51769039C>T" "" "likely benign" "" "0000301949" "0" "70" "12" "52162895" "52162895" "subst" "7.76359E-5" "02326" "SCN8A_000042" "g.52162895G>A" "" "" "" "SCN8A(NM_014191.4):c.3148G>A (p.G1050S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51769111G>A" "" "likely pathogenic" "" "0000301950" "0" "30" "12" "52163721" "52163721" "subst" "3.8123E-5" "02326" "SCN8A_000043" "g.52163721G>A" "" "" "" "SCN8A(NM_014191.3):c.3442G>A (p.(Val1148Met)), SCN8A(NM_014191.4):c.3442G>A (p.V1148M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51769937G>A" "" "likely benign" "" "0000301951" "0" "10" "12" "52163898" "52163898" "del" "0" "02326" "SCN8A_000044" "g.52163898del" "" "" "" "SCN8A(NM_014191.4):c.3490+129delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51770114del" "" "benign" "" "0000301953" "0" "10" "12" "52174353" "52174353" "subst" "0" "02326" "SCN8A_000049" "g.52174353T>C" "" "" "" "SCN8A(NM_014191.4):c.3820-80T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51780569T>C" "" "benign" "" "0000301954" "0" "30" "12" "52078070" "52078070" "subst" "0" "02326" "SCN8A_000015" "g.52078070T>C" "" "" "" "SCN8A(NM_014191.4):c.389T>C (p.I130T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51684286T>C" "" "likely benign" "" "0000301955" "0" "30" "12" "52188378" "52188378" "subst" "0.000203112" "02326" "SCN8A_000054" "g.52188378T>C" "" "" "" "SCN8A(NM_001330260.2):c.4748T>C (p.(Ile1583Thr)), SCN8A(NM_014191.4):c.4748T>C (p.I1583T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51794594T>C" "" "likely benign" "" "0000301956" "0" "90" "12" "52188417" "52188417" "subst" "0" "02326" "SCN8A_000057" "g.52188417C>G" "" "" "" "SCN8A(NM_014191.4):c.4787C>G (p.S1596C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51794633C>G" "" "pathogenic" "" "0000301957" "0" "10" "12" "52188436" "52188436" "subst" "0.00332463" "02326" "SCN8A_000058" "g.52188436T>C" "" "" "" "SCN8A(NM_014191.4):c.4795+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51794652T>C" "" "benign" "" "0000301958" "0" "10" "12" "52200742" "52200742" "subst" "0.654304" "02326" "SCN8A_000061" "g.52200742C>A" "" "" "" "SCN8A(NM_014191.3):c.5472C>A (p.P1824=), SCN8A(NM_014191.4):c.5472C>A (p.P1824=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51806958C>A" "" "benign" "" "0000301959" "0" "30" "12" "52200871" "52200871" "subst" "0.000227542" "02326" "SCN8A_000064" "g.52200871G>A" "" "" "" "SCN8A(NM_001330260.1):c.5601G>A (p.Q1867=), SCN8A(NM_014191.4):c.5601G>A (p.Q1867=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51807087G>A" "" "likely benign" "" "0000301960" "0" "90" "12" "52082568" "52082568" "subst" "0" "02326" "SCN8A_000020" "g.52082568G>A" "" "" "" "SCN8A(NM_014191.4):c.641G>A (p.G214D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51688784G>A" "" "pathogenic" "" "0000301961" "0" "30" "12" "52082585" "52082585" "subst" "8.12539E-6" "02326" "SCN8A_000021" "g.52082585C>T" "" "" "" "SCN8A(NM_014191.4):c.658C>T (p.R220C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51688801C>T" "" "likely benign" "" "0000301962" "0" "30" "12" "52093584" "52093584" "subst" "0.000927023" "02326" "SCN8A_000023" "g.52093584C>T" "" "" "" "SCN8A(NM_014191.4):c.928+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51699800C>T" "" "likely benign" "" "0000307818" "0" "50" "12" "52100324" "52100324" "subst" "0" "01943" "SCN8A_000025" "g.52100324G>T" "" "" "" "SCN8A(NM_001330260.1):c.1460G>T (p.S487I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51706540G>T" "" "VUS" "" "0000307819" "0" "30" "12" "52100484" "52100484" "subst" "0" "01943" "SCN8A_000026" "g.52100484T>C" "" "" "" "SCN8A(NM_014191.3):c.1620T>C (p.F540=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51706700T>C" "" "likely benign" "" "0000307820" "0" "30" "12" "52115513" "52115513" "subst" "0.000130987" "01943" "SCN8A_000027" "g.52115513G>A" "" "" "" "SCN8A(NM_014191.3):c.1819G>A (p.A607T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51721729G>A" "" "likely benign" "" "0000307822" "0" "10" "12" "52163789" "52163789" "subst" "0.80703" "01943" "SCN8A_000004" "g.52163789G>A" "" "" "" "SCN8A(NM_014191.3):c.3490+20G>A, SCN8A(NM_014191.4):c.3490+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51770005G>A" "" "benign" "" "0000307823" "0" "30" "12" "52174435" "52174435" "subst" "0.00176549" "01943" "SCN8A_000050" "g.52174435C>T" "" "" "" "SCN8A(NM_001330260.1):c.3822C>T (p.V1274=), SCN8A(NM_014191.4):c.3822C>T (p.V1274=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51780651C>T" "" "likely benign" "" "0000307824" "0" "10" "12" "52180505" "52180505" "subst" "0.00126441" "01943" "SCN8A_000051" "g.52180505T>A" "" "" "" "SCN8A(NM_014191.3):c.4122T>A (p.T1374=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51786721T>A" "" "benign" "" "0000307825" "0" "10" "12" "52184271" "52184271" "subst" "0.659094" "01943" "SCN8A_000005" "g.52184271T>C" "" "" "" "SCN8A(NM_014191.3):c.4509T>C (p.P1503=), SCN8A(NM_014191.4):c.4509T>C (p.P1503=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51790487T>C" "" "benign" "" "0000307826" "0" "30" "12" "52188394" "52188394" "subst" "0.000199122" "01943" "SCN8A_000055" "g.52188394C>T" "" "" "" "SCN8A(NM_014191.3):c.4764C>T (p.F1588=), SCN8A(NM_014191.4):c.4764C>T (p.F1588=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51794610C>T" "" "likely benign" "" "0000307827" "0" "10" "12" "52188409" "52188409" "subst" "0.00393534" "01943" "SCN8A_000056" "g.52188409C>T" "" "" "" "SCN8A(NM_014191.3):c.4779C>T (p.V1593=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51794625C>T" "" "benign" "" "0000307828" "0" "50" "12" "52200419" "52200419" "subst" "4.06167E-6" "01943" "SCN8A_000060" "g.52200419C>T" "" "" "" "SCN8A(NM_014191.3):c.5149C>T (p.R1717C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51806635C>T" "" "VUS" "" "0000307829" "0" "10" "12" "52200742" "52200742" "subst" "0.654304" "01943" "SCN8A_000061" "g.52200742C>A" "" "" "" "SCN8A(NM_014191.3):c.5472C>A (p.P1824=), SCN8A(NM_014191.4):c.5472C>A (p.P1824=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51806958C>A" "" "benign" "" "0000307830" "0" "30" "12" "52200871" "52200871" "subst" "0.000227542" "01943" "SCN8A_000064" "g.52200871G>A" "" "" "" "SCN8A(NM_001330260.1):c.5601G>A (p.Q1867=), SCN8A(NM_014191.4):c.5601G>A (p.Q1867=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51807087G>A" "" "likely benign" "" "0000307831" "0" "10" "12" "52080965" "52080965" "subst" "0.847072" "01943" "SCN8A_000018" "g.52080965C>T" "" "" "" "SCN8A(NM_014191.3):c.576C>T (p.D192=), SCN8A(NM_014191.4):c.576C>T (p.D192=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51687181C>T" "" "benign" "" "0000322857" "0" "30" "12" "52080146" "52080146" "subst" "0" "01804" "SCN8A_000016" "g.52080146C>T" "" "" "" "SCN8A(NM_001177984.2):c.396-6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51686362C>T" "" "likely benign" "" "0000322858" "0" "50" "12" "52080988" "52080988" "subst" "0" "01804" "SCN8A_000019" "g.52080988G>A" "" "" "" "SCN8A(NM_014191.3):c.599G>A (p.(Ser200Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51687204G>A" "" "VUS" "" "0000322859" "0" "50" "12" "52115549" "52115557" "del" "0" "01804" "SCN8A_000028" "g.52115549_52115557del" "" "" "" "SCN8A(NM_001177984.2):c.1838_1846del (p.(Ser615_Tyr617del)), SCN8A(NM_014191.3):c.1855_1863delGGCTACAGC (p.G619_S621del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51721765_51721773del" "" "VUS" "" "0000322862" "0" "50" "12" "52139690" "52139690" "subst" "1.88152E-5" "01804" "SCN8A_000034" "g.52139690A>G" "" "" "" "SCN8A(NM_001177984.2):c.2002A>G (p.(Thr668Ala)), SCN8A(NM_001330260.1):c.2002A>G (p.T668A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51745906A>G" "" "VUS" "" "0000322865" "0" "50" "12" "52200828" "52200828" "subst" "8.12361E-6" "01804" "SCN8A_000063" "g.52200828A>G" "" "" "" "SCN8A(NM_014191.3):c.5558A>G (p.(Lys1853Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51807044A>G" "" "VUS" "" "0000338362" "0" "10" "12" "52163789" "52163789" "subst" "0.80703" "02327" "SCN8A_000004" "g.52163789G>A" "" "" "" "SCN8A(NM_014191.3):c.3490+20G>A, SCN8A(NM_014191.4):c.3490+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51770005G>A" "" "benign" "" "0000338363" "0" "10" "12" "52182545" "52182545" "subst" "0.132154" "02327" "SCN8A_000052" "g.52182545A>G" "" "" "" "SCN8A(NM_014191.3):c.4281+13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51788761A>G" "" "benign" "" "0000340717" "0" "10" "12" "52080965" "52080965" "subst" "0.847072" "02327" "SCN8A_000018" "g.52080965C>T" "" "" "" "SCN8A(NM_014191.3):c.576C>T (p.D192=), SCN8A(NM_014191.4):c.576C>T (p.D192=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51687181C>T" "" "benign" "" "0000340894" "0" "10" "12" "52184271" "52184271" "subst" "0.659094" "02327" "SCN8A_000005" "g.52184271T>C" "" "" "" "SCN8A(NM_014191.3):c.4509T>C (p.P1503=), SCN8A(NM_014191.4):c.4509T>C (p.P1503=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51790487T>C" "" "benign" "" "0000340898" "0" "10" "12" "52200742" "52200742" "subst" "0.654304" "02327" "SCN8A_000061" "g.52200742C>A" "" "" "" "SCN8A(NM_014191.3):c.5472C>A (p.P1824=), SCN8A(NM_014191.4):c.5472C>A (p.P1824=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51806958C>A" "" "benign" "" "0000341099" "0" "50" "12" "52162883" "52162883" "subst" "1.22372E-5" "02327" "SCN8A_000072" "g.52162883G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51769099G>A" "" "VUS" "" "0000342020" "0" "70" "12" "52200120" "52200120" "subst" "0" "02327" "SCN8A_000074" "g.52200120G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51806336G>C" "" "likely pathogenic" "" "0000342029" "0" "90" "12" "52200156" "52200156" "subst" "0" "02327" "SCN8A_000075" "g.52200156G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51806372G>A" "" "pathogenic" "" "0000342136" "0" "90" "12" "52200885" "52200885" "subst" "4.06425E-6" "02327" "SCN8A_000077" "g.52200885G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51807101G>A" "" "pathogenic" "" "0000343493" "0" "90" "12" "52159701" "52159701" "subst" "0" "02327" "SCN8A_000071" "g.52159701C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51765917C>T" "" "pathogenic" "" "0000343631" "0" "90" "12" "52200900" "52200900" "subst" "0" "02327" "SCN8A_000078" "g.52200900A>G" "" "" "" "SCN8A(NM_001330260.2):c.5630A>G (p.N1877S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51807116A>G" "" "pathogenic" "" "0000345730" "0" "90" "12" "52183134" "52183134" "subst" "0" "02327" "SCN8A_000010" "g.52183134G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51789350G>A" "" "pathogenic" "" "0000347408" "0" "50" "12" "52180553" "52180553" "subst" "0" "02327" "SCN8A_000073" "g.52180553G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51786769G>T" "" "VUS" "" "0000347452" "0" "50" "12" "52200828" "52200828" "subst" "8.12361E-6" "02327" "SCN8A_000063" "g.52200828A>G" "" "" "" "SCN8A(NM_014191.3):c.5558A>G (p.(Lys1853Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51807044A>G" "" "VUS" "" "0000348038" "0" "50" "12" "52099266" "52099266" "subst" "0" "02327" "SCN8A_000069" "g.52099266C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51705482C>A" "" "VUS" "" "0000348082" "0" "30" "12" "52115584" "52115584" "subst" "0" "02327" "SCN8A_000070" "g.52115584C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51721800C>G" "" "likely benign" "" "0000349329" "0" "50" "12" "52200825" "52200825" "subst" "0" "02327" "SCN8A_000076" "g.52200825C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51807041C>T" "" "VUS" "" "0000349340" "0" "50" "12" "52056654" "52056654" "subst" "0" "02327" "SCN8A_000066" "g.52056654C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51662870C>A" "" "VUS" "" "0000350412" "0" "50" "12" "52082871" "52082871" "subst" "0" "02327" "SCN8A_000068" "g.52082871G>A" "" "" "" "SCN8A(NM_001330260.2):c.697G>A (p.V233I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51689087G>A" "" "VUS" "" "0000350413" "0" "90" "12" "52082624" "52082624" "subst" "0" "02327" "SCN8A_000067" "g.52082624G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51688840G>C" "" "pathogenic" "" "0000368220" "1" "90" "12" "52200426" "52200426" "subst" "0" "02450" "SCN8A_000079" "g.52200426C>G" "" "Wagnon et al, Human Mutation 2018" "" "" "" "Germline" "yes" "" "0" "" "" "g.51806642C>G" "" "pathogenic" "" "0000368258" "0" "90" "12" "52159800" "52159800" "subst" "0" "00006" "SCN8A_000080" "g.52159800G>C" "" "{PMID:Wagnon 2017:28702509}" "" "" "variant functionally tested, complete loss channel activity" "De novo" "" "" "0" "" "" "g.51766016G>C" "" "pathogenic" "" "0000368259" "0" "90" "12" "52167979" "52167979" "subst" "0" "00006" "SCN8A_000081" "g.52167979G>A" "" "{PMID:Wagnon 2017:28702509}" "" "" "variant functionally tested, complete loss channel activity" "Germline/De novo (untested)" "" "" "0" "" "" "g.51774195G>A" "" "pathogenic" "" "0000368260" "21" "90" "12" "52200426" "52200427" "del" "0" "00006" "SCN8A_000082" "g.52200426_52200427del" "" "{PMID:Trudeau 2006:16236810}" "" "5157_5158del" "" "Germline" "yes" "" "0" "" "" "g.51806642_51806643del" "" "pathogenic" "" "0000400781" "0" "90" "12" "52200885" "52200885" "subst" "4.06425E-6" "02552" "SCN8A_000077" "g.52200885G>A" "" "{PMID:Papuc 2019:30552426}" "" "" "" "De novo" "" "" "0" "" "" "g.51807101G>A" "" "pathogenic (dominant)" "" "0000441099" "0" "50" "12" "52163721" "52163721" "subst" "3.8123E-5" "01164" "SCN8A_000043" "g.52163721G>A" "" "" "" "" "" "Germline" "" "rs536452913" "0" "" "" "g.51769937G>A" "" "VUS" "ACMG" "0000478744" "0" "50" "12" "52093387" "52093387" "subst" "0" "01807" "SCN8A_000085" "g.52093387C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.51699603C>A" "" "VUS" "" "0000548468" "0" "30" "12" "52056696" "52056696" "subst" "9.76412E-5" "01943" "SCN8A_000086" "g.52056696G>A" "" "" "" "SCN8A(NM_001330260.1):c.95G>A (p.S32N), SCN8A(NM_001330260.2):c.95G>A (p.(Ser32Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51662912G>A" "" "likely benign" "" "0000548470" "0" "50" "12" "52082585" "52082585" "subst" "8.12539E-6" "02327" "SCN8A_000021" "g.52082585C>T" "" "" "" "SCN8A(NM_014191.4):c.658C>T (p.R220C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51688801C>T" "" "VUS" "" "0000548471" "0" "90" "12" "52082594" "52082594" "subst" "0" "02326" "SCN8A_000088" "g.52082594A>G" "" "" "" "SCN8A(NM_014191.4):c.667A>G (p.R223G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51688810A>G" "" "pathogenic" "" "0000548472" "0" "30" "12" "52093391" "52093391" "subst" "1.62648E-5" "02326" "SCN8A_000089" "g.52093391G>A" "" "" "" "SCN8A(NM_014191.4):c.744G>A (p.V248=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51699607G>A" "" "likely benign" "" "0000548473" "0" "30" "12" "52093398" "52093398" "subst" "0.000309026" "02327" "SCN8A_000090" "g.52093398C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51699614C>T" "" "likely benign" "" "0000548474" "0" "70" "12" "52093399" "52093399" "subst" "0" "02327" "SCN8A_000091" "g.52093399T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51699615T>C" "" "likely pathogenic" "" "0000548475" "0" "90" "12" "52093426" "52093426" "subst" "0" "02326" "SCN8A_000092" "g.52093426T>C" "" "" "" "SCN8A(NM_014191.4):c.779T>C (p.F260S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51699642T>C" "" "pathogenic" "" "0000548476" "0" "70" "12" "52094978" "52094978" "subst" "0" "02325" "SCN8A_000093" "g.52094978A>C" "" "" "" "SCN8A(NM_001330260.2):c.979A>C (p.S327R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51701194A>C" "" "likely pathogenic" "" "0000548477" "0" "30" "12" "52100334" "52100334" "subst" "0.00014507" "01943" "SCN8A_000094" "g.52100334A>G" "" "" "" "SCN8A(NM_001330260.1):c.1470A>G (p.E490=), SCN8A(NM_001330260.2):c.1470A>G (p.E490=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51706550A>G" "" "likely benign" "" "0000548478" "0" "30" "12" "52115473" "52115473" "subst" "2.44841E-5" "02326" "SCN8A_000095" "g.52115473G>C" "" "" "" "SCN8A(NM_001330260.2):c.1779G>C (p.E593D), SCN8A(NM_014191.4):c.1779G>C (p.E593D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51721689G>C" "" "likely benign" "" "0000548480" "0" "90" "12" "52115543" "52115543" "dup" "0" "02325" "SCN8A_000097" "g.52115543dup" "" "" "" "SCN8A(NM_014191.4):c.1849dupT (p.Y617Lfs*54)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51721759dup" "" "pathogenic" "" "0000548481" "0" "50" "12" "52115549" "52115557" "del" "0" "01943" "SCN8A_000028" "g.52115549_52115557del" "" "" "" "SCN8A(NM_001177984.2):c.1838_1846del (p.(Ser615_Tyr617del)), SCN8A(NM_014191.3):c.1855_1863delGGCTACAGC (p.G619_S621del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51721765_51721773del" "" "VUS" "" "0000548482" "0" "30" "12" "52115657" "52115657" "subst" "0" "02327" "SCN8A_000098" "g.52115657C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51721873C>T" "" "likely benign" "" "0000548483" "0" "30" "12" "52139683" "52139683" "subst" "0" "01943" "SCN8A_000033" "g.52139683A>T" "" "" "" "SCN8A(NM_001330260.1):c.1999-4A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51745899A>T" "" "likely benign" "" "0000548484" "0" "30" "12" "52139690" "52139690" "subst" "1.88152E-5" "01943" "SCN8A_000034" "g.52139690A>G" "" "" "" "SCN8A(NM_001177984.2):c.2002A>G (p.(Thr668Ala)), SCN8A(NM_001330260.1):c.2002A>G (p.T668A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51745906A>G" "" "likely benign" "" "0000548485" "0" "50" "12" "52139730" "52139730" "subst" "2.06211E-5" "01943" "SCN8A_000099" "g.52139730T>A" "" "" "" "SCN8A(NM_001330260.1):c.2042T>A (p.L681H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51745946T>A" "" "VUS" "" "0000548486" "0" "50" "12" "52139733" "52139733" "subst" "0" "01804" "SCN8A_000100" "g.52139733T>C" "" "" "" "SCN8A(NM_014191.3):c.2045T>C (p.(Leu682Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51745949T>C" "" "VUS" "" "0000548487" "0" "30" "12" "52139797" "52139797" "subst" "0.000293103" "01943" "SCN8A_000101" "g.52139797T>C" "" "" "" "SCN8A(NM_001330260.1):c.2109T>C (p.V703=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51746013T>C" "" "likely benign" "" "0000548488" "0" "30" "12" "52139797" "52139797" "subst" "0.000293103" "02327" "SCN8A_000101" "g.52139797T>C" "" "" "" "SCN8A(NM_001330260.1):c.2109T>C (p.V703=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51746013T>C" "" "likely benign" "" "0000548489" "0" "30" "12" "52139815" "52139815" "subst" "0" "01943" "SCN8A_000102" "g.52139815A>C" "" "" "" "SCN8A(NM_014191.3):c.2127A>C (p.V709=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51746031A>C" "" "likely benign" "" "0000548490" "0" "10" "12" "52159448" "52159448" "dup" "0" "01943" "SCN8A_000037" "g.52159448dup" "" "" "" "SCN8A(NM_014191.3):c.2545-7dupT, SCN8A(NM_014191.4):c.2545-7dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51765664dup" "" "benign" "" "0000548491" "0" "10" "12" "52159450" "52159450" "dup" "0" "02326" "SCN8A_000103" "g.52159450dup" "" "" "" "SCN8A(NM_014191.4):c.2545-5dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51765666dup" "" "benign" "" "0000548493" "0" "30" "12" "52159496" "52159496" "subst" "2.03884E-5" "02326" "SCN8A_000105" "g.52159496C>T" "" "" "" "SCN8A(NM_001330260.2):c.2586C>T (p.N862=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51765712C>T" "" "likely benign" "" "0000548494" "0" "50" "12" "52159540" "52159540" "subst" "0" "02327" "SCN8A_000106" "g.52159540A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51765756A>G" "" "VUS" "" "0000548496" "0" "30" "12" "52163714" "52163714" "subst" "0" "01943" "SCN8A_000108" "g.52163714G>C" "" "" "" "SCN8A(NM_001330260.1):c.3435G>C (p.E1145D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51769930G>C" "" "likely benign" "" "0000548497" "0" "50" "12" "52164351" "52164351" "subst" "1.22556E-5" "02327" "SCN8A_000109" "g.52164351G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51770567G>A" "" "VUS" "" "0000548499" "0" "50" "12" "52168121" "52168121" "subst" "0" "02327" "SCN8A_000110" "g.52168121G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51774337G>A" "" "VUS" "" "0000548500" "0" "10" "12" "52173784" "52173786" "dup" "0" "02326" "SCN8A_000111" "g.52173784_52173786dup" "" "" "" "SCN8A(NM_014191.4):c.3820-651_3820-649dupTTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51780000_51780002dup" "" "benign" "" "0000548501" "0" "10" "12" "52173841" "52173841" "subst" "0" "02326" "SCN8A_000112" "g.52173841C>T" "" "" "" "SCN8A(NM_014191.4):c.3820-592C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51780057C>T" "" "benign" "" "0000548502" "0" "30" "12" "52174426" "52174426" "subst" "6.72716E-5" "01943" "SCN8A_000113" "g.52174426T>C" "" "" "" "SCN8A(NM_001330260.1):c.3820-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51780642T>C" "" "likely benign" "" "0000548504" "0" "30" "12" "52180340" "52180340" "subst" "0.000276407" "01943" "SCN8A_000115" "g.52180340C>T" "" "" "" "SCN8A(NM_001330260.2):c.3957C>T (p.A1319=), SCN8A(NM_014191.3):c.3957C>T (p.A1319=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51786556C>T" "" "likely benign" "" "0000548505" "0" "70" "12" "52183161" "52183161" "subst" "0" "01804" "SCN8A_000116" "g.52183161A>G" "" "" "" "SCN8A(NM_001177984.2):c.4255A>G (p.(Ile1419Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51789377A>G" "" "likely pathogenic" "" "0000548507" "0" "90" "12" "52184236" "52184236" "subst" "0" "02327" "SCN8A_000118" "g.52184236A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51790452A>G" "" "pathogenic" "" "0000548509" "0" "50" "12" "52188252" "52188252" "subst" "0" "02329" "SCN8A_000120" "g.52188252T>G" "" "" "" "SCN8A(NM_014191.4):c.4622T>G (p.V1541G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51794468T>G" "" "VUS" "" "0000548510" "0" "30" "12" "52188394" "52188394" "subst" "0.000199122" "02327" "SCN8A_000055" "g.52188394C>T" "" "" "" "SCN8A(NM_014191.3):c.4764C>T (p.F1588=), SCN8A(NM_014191.4):c.4764C>T (p.F1588=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51794610C>T" "" "likely benign" "" "0000548511" "0" "90" "12" "52188417" "52188417" "subst" "0" "02325" "SCN8A_000057" "g.52188417C>G" "" "" "" "SCN8A(NM_014191.4):c.4787C>G (p.S1596C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51794633C>G" "" "pathogenic" "" "0000548512" "0" "90" "12" "52200120" "52200120" "subst" "0" "01804" "SCN8A_000121" "g.52200120G>A" "" "" "" "SCN8A(NM_014191.3):c.4850G>A (p.(Arg1617Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51806336G>A" "" "pathogenic" "" "0000548513" "0" "50" "12" "52200337" "52200337" "subst" "0" "01804" "SCN8A_000122" "g.52200337G>C" "" "" "" "SCN8A(NM_001177984.2):c.4944G>C (p.(Glu1648Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51806553G>C" "" "VUS" "" "0000548514" "0" "70" "12" "52200728" "52200728" "subst" "0" "02325" "SCN8A_000123" "g.52200728C>T" "" "" "" "SCN8A(NM_001330260.2):c.5458C>T (p.R1820*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51806944C>T" "" "likely pathogenic" "" "0000548515" "0" "50" "12" "52200792" "52200792" "subst" "0" "02327" "SCN8A_000124" "g.52200792G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51807008G>A" "" "VUS" "" "0000548516" "0" "30" "12" "52200889" "52200889" "subst" "5.69013E-5" "01943" "SCN8A_000125" "g.52200889C>T" "" "" "" "SCN8A(NM_001330260.1):c.5619C>T (p.F1873=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51807105C>T" "" "likely benign" "" "0000548517" "0" "50" "12" "52201165" "52201167" "del" "0" "01804" "SCN8A_000126" "g.52201165_52201167del" "" "" "" "SCN8A(NM_001177984.2):c.5768_5770del (p.(Arg1925del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51807381_51807383del" "" "VUS" "" "0000548518" "0" "30" "12" "52201216" "52201218" "del" "0" "01943" "SCN8A_000127" "g.52201216_52201218del" "" "" "" "SCN8A(NM_001330260.1):c.5943_*2delGAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51807432_51807434del" "" "likely benign" "" "0000598530" "0" "50" "12" "52168037" "52168037" "subst" "1.21832E-5" "03451" "SCN8A_000128" "g.52168037A>G" "" "" "" "" "" "Germline/De novo (untested)" "" "rs281865117" "0" "" "" "g.51774253A>G" "" "VUS" "" "0000604480" "0" "50" "12" "52200785" "52200785" "subst" "0" "03512" "SCN8A_000129" "g.52200785G>A" "" "{PMID:Minardi 2020:32725632}" "" "" "" "Germline" "" "" "0" "" "" "g.51807001G>A" "" "VUS" "" "0000614254" "0" "30" "12" "52078008" "52078008" "subst" "1.62739E-5" "02327" "SCN8A_000130" "g.52078008G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51684224G>A" "" "likely benign" "" "0000614255" "0" "50" "12" "52082613" "52082613" "subst" "0" "02327" "SCN8A_000131" "g.52082613A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51688829A>G" "" "VUS" "" "0000614256" "0" "30" "12" "52093334" "52093334" "subst" "2.9914E-5" "02327" "SCN8A_000132" "g.52093334C>T" "" "" "" "SCN8A(NM_014191.4):c.707-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51699550C>T" "" "likely benign" "" "0000614257" "0" "50" "12" "52096584" "52096584" "subst" "1.66918E-5" "02327" "SCN8A_000133" "g.52096584G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51702800G>A" "" "VUS" "" "0000614258" "0" "30" "12" "52100334" "52100334" "subst" "0.00014507" "02326" "SCN8A_000094" "g.52100334A>G" "" "" "" "SCN8A(NM_001330260.1):c.1470A>G (p.E490=), SCN8A(NM_001330260.2):c.1470A>G (p.E490=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51706550A>G" "" "likely benign" "" "0000614259" "0" "30" "12" "52100398" "52100398" "subst" "0" "01943" "SCN8A_000134" "g.52100398C>T" "" "" "" "SCN8A(NM_001330260.1):c.1534C>T (p.P512S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51706614C>T" "" "likely benign" "" "0000614260" "0" "50" "12" "52115463" "52115463" "subst" "0" "02327" "SCN8A_000135" "g.52115463C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51721679C>T" "" "VUS" "" "0000614262" "0" "30" "12" "52115473" "52115473" "subst" "2.44841E-5" "02327" "SCN8A_000095" "g.52115473G>C" "" "" "" "SCN8A(NM_001330260.2):c.1779G>C (p.E593D), SCN8A(NM_014191.4):c.1779G>C (p.E593D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51721689G>C" "" "likely benign" "" "0000614263" "0" "30" "12" "52115513" "52115513" "subst" "0.000130987" "02327" "SCN8A_000027" "g.52115513G>A" "" "" "" "SCN8A(NM_014191.3):c.1819G>A (p.A607T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51721729G>A" "" "likely benign" "" "0000614264" "0" "30" "12" "52115527" "52115527" "subst" "0.00322635" "02327" "SCN8A_000136" "g.52115527G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51721743G>T" "" "likely benign" "" "0000614265" "0" "50" "12" "52115570" "52115570" "subst" "0" "02327" "SCN8A_000137" "g.52115570T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51721786T>A" "" "VUS" "" "0000614266" "0" "50" "12" "52156447" "52156447" "subst" "0" "01804" "SCN8A_000138" "g.52156447G>A" "" "" "" "SCN8A(NM_001177984.2):c.2531G>A (p.(Arg844Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51762663G>A" "" "VUS" "" "0000614267" "0" "30" "12" "52159580" "52159580" "subst" "0.000101521" "02327" "SCN8A_000139" "g.52159580C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51765796C>T" "" "likely benign" "" "0000614268" "0" "50" "12" "52159746" "52159746" "subst" "0" "02325" "SCN8A_000140" "g.52159746G>A" "" "" "" "SCN8A(NM_014191.4):c.2836G>A (p.E946K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51765962G>A" "" "VUS" "" "0000614269" "0" "10" "12" "52162823" "52162823" "subst" "0.0117727" "02327" "SCN8A_000006" "g.52162823C>T" "" "" "" "SCN8A(NM_001177984.2):c.3076C>T (p.(Arg1026Cys)), SCN8A(NM_014191.4):c.3076C>T (p.R1026C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51769039C>T" "" "benign" "" "0000614270" "0" "30" "12" "52163643" "52163643" "subst" "4.50699E-5" "02327" "SCN8A_000141" "g.52163643C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51769859C>T" "" "likely benign" "" "0000614271" "0" "30" "12" "52163702" "52163702" "subst" "6.32207E-5" "02327" "SCN8A_000142" "g.52163702A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51769918A>G" "" "likely benign" "" "0000614272" "0" "50" "12" "52164331" "52164331" "subst" "4.18242E-6" "02327" "SCN8A_000143" "g.52164331A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51770547A>G" "" "VUS" "" "0000614273" "0" "30" "12" "52180349" "52180349" "subst" "0.00011381" "02327" "SCN8A_000145" "g.52180349C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51786565C>T" "" "likely benign" "" "0000614274" "0" "30" "12" "52180505" "52180505" "subst" "0.00126441" "02327" "SCN8A_000051" "g.52180505T>A" "" "" "" "SCN8A(NM_014191.3):c.4122T>A (p.T1374=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51786721T>A" "" "likely benign" "" "0000614275" "0" "30" "12" "52183133" "52183133" "subst" "7.71806E-5" "02327" "SCN8A_000146" "g.52183133C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51789349C>T" "" "likely benign" "" "0000614276" "0" "70" "12" "52188161" "52188161" "dup" "0" "02327" "SCN8A_000147" "g.52188161dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51794377dup" "" "likely pathogenic" "" "0000614277" "0" "30" "12" "52188378" "52188378" "subst" "0.000203112" "02327" "SCN8A_000054" "g.52188378T>C" "" "" "" "SCN8A(NM_001330260.2):c.4748T>C (p.(Ile1583Thr)), SCN8A(NM_014191.4):c.4748T>C (p.I1583T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51794594T>C" "" "likely benign" "" "0000614279" "0" "30" "12" "52200499" "52200499" "subst" "6.49767E-5" "02327" "SCN8A_000148" "g.52200499C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51806715C>A" "" "likely benign" "" "0000614280" "0" "50" "12" "52200830" "52200830" "subst" "0" "02325" "SCN8A_000149" "g.52200830C>T" "" "" "" "SCN8A(NM_014191.4):c.5560C>T (p.R1854W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51807046C>T" "" "VUS" "" "0000614281" "0" "50" "12" "52200903" "52200903" "subst" "0" "02325" "SCN8A_000150" "g.52200903C>T" "" "" "" "SCN8A(NM_001330260.2):c.5633C>T (p.P1878L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51807119C>T" "" "VUS" "" "0000614282" "0" "30" "12" "52201149" "52201149" "subst" "2.86029E-5" "02327" "SCN8A_000151" "g.52201149G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51807365G>A" "" "likely benign" "" "0000629933" "0" "50" "12" "52200143" "52200143" "subst" "0" "00006" "SCN8A_000007" "g.52200143G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51806359G>A" "" "VUS" "" "0000630863" "21" "70" "12" "52156340" "52156340" "dup" "0" "00006" "SCN8A_000152" "g.52156340dup" "" "{PMID:Hughes 2020:31883643}" "" "2424dupT" "variant also present in clinically unaffected sib" "Germline" "" "" "0" "" "" "g.51762556dup" "" "likely pathogenic" "" "0000648597" "1" "30" "12" "52156281" "52156281" "subst" "0.00148895" "03575" "SCN8A_000083" "g.52156281A>G" "5/2785 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs187002252}" "Germline" "" "rs187002252" "0" "" "" "g.51762497A>G" "" "likely benign" "" "0000648598" "1" "70" "12" "52156450" "52156450" "subst" "0" "03575" "SCN8A_000153" "g.52156450C>T" "80/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "80 heterozygous, no homozygous; {DB:CLININrs796053210}" "Germline" "" "rs796053210" "0" "" "" "g.51762666C>T" "" "likely pathogenic" "" "0000648599" "1" "30" "12" "52162823" "52162823" "subst" "0.0117727" "03575" "SCN8A_000006" "g.52162823C>T" "15/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "15 heterozygous; {DB:CLININrs117217073}" "Germline" "" "rs117217073" "0" "" "" "g.51769039C>T" "" "likely benign" "" "0000648600" "1" "90" "12" "52200219" "52200219" "subst" "0" "03575" "SCN8A_000154" "g.52200219C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs796053224}" "Germline" "" "rs796053224" "0" "" "" "g.51806435C>T" "" "pathogenic" "" "0000657141" "0" "50" "12" "52056873" "52056873" "subst" "0" "01804" "SCN8A_000155" "g.52056873A>C" "" "" "" "SCN8A(NM_001177984.2):c.272A>C (p.(Gln91Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51663089A>C" "" "VUS" "" "0000657142" "0" "30" "12" "52094974" "52094974" "subst" "0" "02327" "SCN8A_000156" "g.52094974G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51701190G>A" "" "likely benign" "" "0000657144" "0" "30" "12" "52159542" "52159542" "subst" "0.0004265" "01943" "SCN8A_000157" "g.52159542C>T" "" "" "" "SCN8A(NM_001330260.1):c.2632C>T (p.L878=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51765758C>T" "" "likely benign" "" "0000657145" "0" "30" "12" "52174435" "52174435" "subst" "0.00176549" "02327" "SCN8A_000050" "g.52174435C>T" "" "" "" "SCN8A(NM_001330260.1):c.3822C>T (p.V1274=), SCN8A(NM_014191.4):c.3822C>T (p.V1274=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51780651C>T" "" "likely benign" "" "0000657146" "0" "30" "12" "52201065" "52201065" "subst" "5.28249E-5" "02327" "SCN8A_000158" "g.52201065G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51807281G>C" "" "likely benign" "" "0000665627" "0" "50" "12" "52200785" "52200785" "subst" "0" "03512" "SCN8A_000129" "g.52200785G>A" "" "{PMID:Minardi 2020:32725632}" "" "" "" "Germline" "" "" "0" "" "" "g.51807001G>A" "" "VUS" "" "0000667202" "0" "70" "12" "52183134" "52183134" "subst" "0" "01164" "SCN8A_000010" "g.52183134G>A" "" "Blanchard et al. 2015. J Med Genet 5: 330; Wagnon et al. 2015. Ann Clin Transl Neurol 2: 114" "" "" "ACMG grading: PS3,PM2,PM6,PP3" "Germline" "" "rs863223345" "0" "" "" "g.51789350G>A" "" "likely pathogenic" "ACMG" "0000667695" "1" "90" "12" "52180374" "52180374" "subst" "0" "00006" "SCN8A_000160" "g.52180374C>G" "" "{PMID:Carvill 2013:23708187}" "" "NM_001177984.2:c.3868C>G (Leu1290Val)" "inherited from somatic mosaic father (0.13)" "Germline" "" "" "0" "" "" "g.51786590C>G" "" "pathogenic (dominant)" "" "0000667713" "0" "50" "12" "52115678" "52115678" "subst" "0" "00006" "SCN8A_000159" "g.52115678C>T" "" "{PMID:Carvill 2013:23708187}" "" "" "father unavailable" "Germline/De novo (untested)" "" "" "0" "" "" "g.51721894C>T" "" "VUS" "" "0000667714" "0" "50" "12" "52200885" "52200885" "subst" "4.06425E-6" "00006" "SCN8A_000077" "g.52200885G>A" "" "{PMID:Carvill 2013:23708187}" "" "NM_001177984.2:c.5492G>A (Arg1831Gln)" "parents unavailable" "Germline/De novo (untested)" "" "" "0" "" "" "g.51807101G>A" "" "VUS" "" "0000669185" "3" "30" "12" "52162823" "52162823" "subst" "0.0117727" "03575" "SCN8A_000006" "g.52162823C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs117217073}" "Germline" "" "rs117217073" "0" "" "" "g.51769039C>T" "" "likely benign" "" "0000673705" "11" "70" "12" "52156380" "52156380" "subst" "0" "00006" "SCN8A_000163" "g.52156380G>A" "" "{PMID:Johannesen 2020:32427350}, {PMID:Wengert 2019:31625145}" "" "" "ACMG PS3, PM2, PP2" "Germline" "" "" "0" "" "" "g.51762596G>A" "" "likely pathogenic (recessive)" "ACMG" "0000673712" "21" "70" "12" "52200182" "52200182" "subst" "0" "00006" "SCN8A_000161" "g.52200182C>T" "" "{PMID:Johannesen 2020:32427350}, {PMID:Wengert 2019:31625145}" "" "" "ACMG PS3, PM2, PM5, PP2" "Germline" "" "" "0" "" "" "g.51806398C>T" "" "likely pathogenic (recessive)" "ACMG" "0000673856" "0" "70" "12" "52100255" "52100255" "subst" "0" "03695" "SCN8A_000162" "g.52100255A>G" "" "" "" "" "" "Unknown" "" "" "" "" "" "" "" "likely pathogenic" "" "0000679574" "0" "30" "12" "52100373" "52100373" "subst" "0.000118642" "02326" "SCN8A_000164" "g.52100373C>A" "" "" "" "SCN8A(NM_001330260.2):c.1509C>A (p.L503=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679575" "0" "50" "12" "52162754" "52162754" "subst" "0" "01943" "SCN8A_000165" "g.52162754C>T" "" "" "" "SCN8A(NM_001330260.1):c.3007C>T (p.R1003C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679576" "0" "30" "12" "52180340" "52180340" "subst" "0.000276407" "02326" "SCN8A_000115" "g.52180340C>T" "" "" "" "SCN8A(NM_001330260.2):c.3957C>T (p.A1319=), SCN8A(NM_014191.3):c.3957C>T (p.A1319=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679577" "0" "90" "12" "52180611" "52180611" "subst" "0" "01943" "SCN8A_000166" "g.52180611G>T" "" "" "" "SCN8A(NM_001330260.1):c.4227+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000679578" "0" "30" "12" "52182529" "52182529" "subst" "0.000410236" "01943" "SCN8A_000167" "g.52182529G>A" "" "" "" "SCN8A(NM_001330260.1):c.4278G>A (p.R1426=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000683341" "0" "70" "12" "52156446" "52156446" "subst" "0" "00006" "SCN8A_000168" "g.52156446C>T" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51762662C>T" "" "likely pathogenic (dominant)" "" "0000691368" "0" "50" "12" "52115570" "52115570" "subst" "2.12576E-5" "02327" "SCN8A_000169" "g.52115570T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691369" "0" "70" "12" "52180569" "52180575" "del" "0" "02327" "SCN8A_000170" "g.52180569_52180575del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000691370" "0" "90" "12" "52200084" "52200084" "subst" "0" "02327" "SCN8A_000171" "g.52200084T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000691371" "0" "30" "12" "52200232" "52200232" "subst" "3.65512E-5" "02327" "SCN8A_000172" "g.52200232C>T" "" "" "" "SCN8A(NM_001330260.1):c.4962C>T (p.I1654=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000704176" "0" "70" "12" "52082568" "52082568" "subst" "0" "01807" "SCN8A_000020" "g.52082568G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000714881" "0" "50" "12" "52200662" "52200662" "subst" "0" "01164" "SCN8A_000173" "g.52200662G>A" "" "" "" "" "ACMG: PM2, PP2: class 3" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000724120" "0" "50" "12" "52056870" "52056870" "subst" "1.22385E-5" "02325" "SCN8A_000174" "g.52056870C>T" "" "" "" "SCN8A(NM_014191.4):c.269C>T (p.T90M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724121" "0" "70" "12" "52099281" "52099281" "del" "0" "02329" "SCN8A_000024" "g.52099281del" "" "" "" "SCN8A(NM_014191.4):c.1215delG (p.I406Sfs*58)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000724122" "0" "50" "12" "52115473" "52115473" "subst" "2.44841E-5" "02329" "SCN8A_000095" "g.52115473G>C" "" "" "" "SCN8A(NM_001330260.2):c.1779G>C (p.E593D), SCN8A(NM_014191.4):c.1779G>C (p.E593D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724123" "0" "70" "12" "52159458" "52159458" "subst" "0" "02329" "SCN8A_000175" "g.52159458C>T" "" "" "" "SCN8A(NM_001330260.2):c.2548C>T (p.R850*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000724124" "0" "50" "12" "52159476" "52159476" "subst" "0" "02329" "SCN8A_000104" "g.52159476A>G" "" "" "" "SCN8A(NM_014191.4):c.2566A>G (p.K856E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724125" "0" "50" "12" "52163721" "52163721" "subst" "3.8123E-5" "02327" "SCN8A_000043" "g.52163721G>A" "" "" "" "SCN8A(NM_014191.3):c.3442G>A (p.(Val1148Met)), SCN8A(NM_014191.4):c.3442G>A (p.V1148M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724126" "0" "30" "12" "52182540" "52182540" "subst" "2.05832E-5" "01943" "SCN8A_000176" "g.52182540T>C" "" "" "" "SCN8A(NM_001330260.1):c.4281+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724127" "0" "70" "12" "52183161" "52183161" "subst" "0" "02327" "SCN8A_000116" "g.52183161A>G" "" "" "" "SCN8A(NM_001177984.2):c.4255A>G (p.(Ile1419Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000785868" "0" "90" "12" "52082574" "52082574" "subst" "0" "01864" "SCN8A_000177" "g.52082574T>A" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.51688790T>A" "" "likely pathogenic (dominant)" "ACMG" "0000787387" "0" "50" "12" "0" "0" "" "0" "00006" "ALX1_000001" "g.?" "" "{PMID:Ganapathy 2019:31069529}" "" "c.572G>A (Arg191Gln)" "" "Germline" "" "rs1345271275" "0" "" "" "" "" "VUS" "" "0000787388" "0" "50" "12" "0" "0" "" "0" "00006" "ALX1_000001" "g.?" "" "{PMID:Ganapathy 2019:31069529}" "" "c.875A>G (Tyr292Cys)" "" "Germline" "" "rs760924400" "0" "" "" "" "" "VUS" "" "0000787389" "0" "50" "12" "0" "0" "" "0" "00006" "ALX1_000001" "g.?" "" "{PMID:Ganapathy 2019:31069529}" "" "c.1648A>C (Ile550Leu)" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000787442" "0" "50" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "0" "" "c.2074G>A (Gly692Arg)" "" "Germline" "" "rs1037521613" "0" "" "" "" "" "VUS" "" "0000787604" "0" "50" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "0" "" "c.4951C>G (Leu1651Val)" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000787607" "0" "50" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "0" "" "c.220C>A (Gln74Lys)" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000805812" "0" "30" "12" "52080897" "52080897" "subst" "8.13312E-6" "02327" "SCN8A_000178" "g.52080897A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805813" "0" "30" "12" "52115434" "52115434" "subst" "4.24398E-6" "02326" "SCN8A_000179" "g.52115434G>A" "" "" "" "SCN8A(NM_014191.4):c.1740G>A (p.E580=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805814" "0" "50" "12" "52145280" "52145280" "subst" "0" "02325" "SCN8A_000180" "g.52145280C>T" "" "" "" "SCN8A(NM_014191.4):c.2273C>T (p.A758V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805815" "0" "30" "12" "52159496" "52159496" "subst" "2.03884E-5" "02327" "SCN8A_000105" "g.52159496C>T" "" "" "" "SCN8A(NM_001330260.2):c.2586C>T (p.N862=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805816" "0" "30" "12" "52159542" "52159542" "subst" "0.0004265" "02327" "SCN8A_000157" "g.52159542C>T" "" "" "" "SCN8A(NM_001330260.1):c.2632C>T (p.L878=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805817" "0" "30" "12" "52163068" "52163068" "subst" "0.00011426" "02327" "SCN8A_000181" "g.52163068C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805818" "0" "30" "12" "52200316" "52200316" "subst" "0.000121825" "02327" "SCN8A_000059" "g.52200316C>T" "" "" "" "SCN8A(NM_014191.4):c.5046C>T (p.I1682=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805819" "0" "70" "12" "52200900" "52200900" "subst" "0" "02329" "SCN8A_000078" "g.52200900A>G" "" "" "" "SCN8A(NM_001330260.2):c.5630A>G (p.N1877S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000817872" "3" "70" "12" "52115484" "52115484" "subst" "3.05101E-5" "00006" "SCN8A_000182" "g.52115484G>A" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.51721700G>A" "" "likely pathogenic (recessive)" "ACMG" "0000839770" "0" "70" "12" "52180350" "52180350" "subst" "0" "01164" "SCN8A_000183" "g.52180350G>A" "" "PMID: 29100083; 30968951 (de novo)" "" "" "ACMG: PS2_MOD, PS4_SUP, PM2_SUP, PP2, PP3" "Germline" "?" "" "" "" "" "" "VCV000195688.9" "likely pathogenic (dominant)" "ACMG" "0000845947" "0" "50" "12" "52139793" "52139793" "subst" "0" "01164" "SCN8A_000184" "g.52139793G>C" "" "PMID: 31572294" "" "" "ACMG: PM2_SUP, PP2, PP3" "Germline" "?" "" "" "" "" "" "VCV001317639.1" "VUS (!)" "ACMG" "0000853437" "0" "30" "12" "52082638" "52082638" "subst" "0" "02327" "SCN8A_000185" "g.52082638G>T" "" "" "" "SCN8A(NM_014191.3):c.706+5G>T (p.?), SCN8A(NM_014191.4):c.706+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853438" "0" "30" "12" "52159571" "52159571" "subst" "0" "02327" "SCN8A_000187" "g.52159571C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853439" "0" "30" "12" "52162873" "52162873" "subst" "0" "01943" "SCN8A_000189" "g.52162873C>T" "" "" "" "SCN8A(NM_001330260.1):c.3126C>T (p.A1042=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853440" "0" "30" "12" "52163654" "52163654" "subst" "0" "02327" "SCN8A_000190" "g.52163654A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853441" "0" "30" "12" "52168095" "52168095" "subst" "4.07671E-6" "02327" "SCN8A_000191" "g.52168095C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853442" "0" "30" "12" "52180340" "52180340" "subst" "0.000276407" "02327" "SCN8A_000115" "g.52180340C>T" "" "" "" "SCN8A(NM_001330260.2):c.3957C>T (p.A1319=), SCN8A(NM_014191.3):c.3957C>T (p.A1319=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853443" "0" "30" "12" "52188373" "52188373" "subst" "0" "02327" "SCN8A_000194" "g.52188373C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853444" "0" "50" "12" "52200285" "52200285" "subst" "0" "01943" "SCN8A_000195" "g.52200285A>G" "" "" "" "SCN8A(NM_001330260.1):c.5015A>G (p.N1672S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853445" "0" "30" "12" "52201153" "52201153" "subst" "4.09045E-6" "01943" "SCN8A_000197" "g.52201153A>G" "" "" "" "SCN8A(NM_001330260.1):c.5883A>G (p.A1961=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863036" "0" "50" "12" "52159486" "52159486" "subst" "0" "02326" "SCN8A_000186" "g.52159486C>G" "" "" "" "SCN8A(NM_014191.4):c.2576C>G (p.P859R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863037" "0" "30" "12" "52159669" "52159669" "subst" "0" "01943" "SCN8A_000188" "g.52159669A>G" "" "" "" "SCN8A(NM_001330260.1):c.2759A>G (p.H920R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863038" "0" "30" "12" "52162823" "52162823" "subst" "0.0117727" "01804" "SCN8A_000006" "g.52162823C>T" "" "" "" "SCN8A(NM_001177984.2):c.3076C>T (p.(Arg1026Cys)), SCN8A(NM_014191.4):c.3076C>T (p.R1026C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863039" "0" "90" "12" "52180350" "52180350" "subst" "0" "02327" "SCN8A_000192" "g.52180350G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000863040" "0" "50" "12" "52182489" "52182489" "subst" "0" "02325" "SCN8A_000193" "g.52182489A>G" "" "" "" "SCN8A(NM_014191.4):c.4238A>G (p.K1413R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863041" "0" "30" "12" "52200232" "52200232" "subst" "3.65512E-5" "01943" "SCN8A_000172" "g.52200232C>T" "" "" "" "SCN8A(NM_001330260.1):c.4962C>T (p.I1654=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863042" "0" "30" "12" "52201031" "52201031" "subst" "9.74801E-5" "02327" "SCN8A_000196" "g.52201031A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890656" "0" "50" "12" "52056611" "52056611" "subst" "0" "02326" "SCN8A_000198" "g.52056611C>T" "" "" "" "SCN8A(NM_014191.4):c.10C>T (p.R4W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890657" "0" "30" "12" "52082638" "52082638" "subst" "0" "02325" "SCN8A_000185" "g.52082638G>T" "" "" "" "SCN8A(NM_014191.3):c.706+5G>T (p.?), SCN8A(NM_014191.4):c.706+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890658" "0" "30" "12" "52096590" "52096590" "subst" "0" "02327" "SCN8A_000199" "g.52096590A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890659" "0" "30" "12" "52139744" "52139744" "subst" "3.26851E-5" "02327" "SCN8A_000200" "g.52139744G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890660" "0" "30" "12" "52145308" "52145308" "subst" "0" "02327" "SCN8A_000201" "g.52145308A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890661" "0" "50" "12" "52162860" "52162860" "subst" "0" "02325" "SCN8A_000202" "g.52162860A>G" "" "" "" "SCN8A(NM_014191.4):c.3113A>G (p.Y1038C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890662" "0" "30" "12" "52163074" "52163074" "subst" "0" "02327" "SCN8A_000203" "g.52163074C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890663" "0" "50" "12" "52183102" "52183102" "subst" "0" "02327" "SCN8A_000204" "g.52183102T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890664" "0" "70" "12" "52183111" "52183111" "subst" "0" "02327" "SCN8A_000205" "g.52183111A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000890665" "0" "70" "12" "52184254" "52184254" "subst" "0" "02329" "SCN8A_000206" "g.52184254A>G" "" "" "" "SCN8A(NM_001330260.2):c.4492A>G (p.K1498E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000890666" "0" "30" "12" "52188317" "52188317" "subst" "8.12334E-6" "02327" "SCN8A_000207" "g.52188317A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890667" "0" "30" "12" "52200239" "52200239" "subst" "0.00017867" "02327" "SCN8A_000208" "g.52200239C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000899405" "0" "50" "12" "52182528" "52182528" "subst" "0" "01164" "SCN8A_000209" "g.52182528G>A" "" "" "" "" "ACMG: PM1, PM2_SUP, PP2, PP3" "Germline" "?" "" "" "" "" "" "VCV000391815.3" "VUS" "ACMG" "0000913876" "0" "30" "12" "52056871" "52056871" "subst" "0.000101995" "02327" "SCN8A_000210" "g.52056871G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913877" "0" "30" "12" "52093457" "52093457" "subst" "1.62508E-5" "02327" "SCN8A_000211" "g.52093457G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913878" "0" "30" "12" "52100213" "52100213" "subst" "0" "02326" "SCN8A_000212" "g.52100213C>T" "" "" "" "SCN8A(NM_014191.4):c.1349C>T (p.A450V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913879" "0" "50" "12" "52115523" "52115523" "subst" "0" "02327" "SCN8A_000213" "g.52115523G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913880" "0" "50" "12" "52145161" "52145161" "subst" "0" "02327" "SCN8A_000214" "g.52145161G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913881" "0" "30" "12" "52174446" "52174446" "subst" "0" "02327" "SCN8A_000215" "g.52174446G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913882" "0" "50" "12" "52188213" "52188213" "subst" "0" "02325" "SCN8A_000216" "g.52188213T>C" "" "" "" "SCN8A(NM_014191.4):c.4583T>C (p.I1528T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925654" "0" "50" "12" "52100314" "52100314" "subst" "0" "02327" "SCN8A_000217" "g.52100314A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925655" "0" "50" "12" "52139730" "52139730" "subst" "2.06211E-5" "02327" "SCN8A_000099" "g.52139730T>A" "" "" "" "SCN8A(NM_001330260.1):c.2042T>A (p.L681H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925656" "0" "30" "12" "52139766" "52139766" "subst" "1.22649E-5" "02327" "SCN8A_000218" "g.52139766G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925657" "0" "30" "12" "52159595" "52159595" "subst" "0.000466994" "02327" "SCN8A_000219" "g.52159595A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925658" "0" "30" "12" "52200964" "52200964" "subst" "0" "02327" "SCN8A_000220" "g.52200964T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930110" "0" "50" "12" "52082539" "52082539" "subst" "0" "02325" "SCN8A_000221" "g.52082539C>G" "" "" "" "SCN8A(NM_014191.4):c.615-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930111" "0" "30" "12" "52168137" "52168137" "subst" "0" "02327" "SCN8A_000222" "g.52168137C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000933296" "11" "70" "12" "52174539" "52174539" "subst" "0" "04459" "SCN8A_000223" "g.52174539G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.51780755G>A" "" "likely pathogenic (paternal)" "ACMG" "0000935915" "0" "70" "12" "52100486" "52100486" "subst" "0" "00006" "SCN8A_000225" "g.52100486C>A" "" "{PMID:Chuan 2022:35571021}" "" "NM_001330260.2:c.1622C>A" "ACMG PS2,PM2,PM6,PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.51706702C>A" "" "likely pathogenic (dominant)" "ACMG" "0000935929" "0" "90" "12" "52100452" "52100452" "subst" "1.75758E-5" "00006" "SCN8A_000224" "g.52100452C>T" "" "{PMID:Chuan 2022:35571021}" "" "NM_001330260.2:c.1588C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51706668C>T" "" "pathogenic (dominant)" "" "0000936020" "0" "70" "12" "52174506" "52174506" "subst" "0" "00006" "SCN8A_000226" "g.52174506T>C" "" "{PMID:Chuan 2022:35571021}" "" "NM_001330260.2:c.3893T>C" "ACMG PS2,PM2,PM6,PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.51780722T>C" "" "likely pathogenic (dominant)" "ACMG" "0000936247" "0" "70" "12" "52180350" "52180350" "subst" "0" "00006" "SCN8A_000183" "g.52180350G>A" "" "{PMID:Hamdan 2017:29100083}" "" "NM_014191:c.G3967A (A1323T)" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000936371" "0" "90" "12" "52183203" "52183203" "subst" "0" "00006" "SCN8A_000227" "g.52183203A>G" "" "{PMID:Hamdan 2017:29100083}" "" "NM_014191:c.4419+1A>G" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000936394" "0" "90" "12" "52200900" "52200900" "subst" "0" "00006" "SCN8A_000078" "g.52200900A>G" "" "{PMID:Hamdan 2017:29100083}" "" "NM_014191:c.A5630G (N1877S)" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000936405" "0" "70" "12" "52200885" "52200885" "subst" "4.06425E-6" "00006" "SCN8A_000077" "g.52200885G>A" "" "{PMID:Hamdan 2017:29100083}" "" "NM_014191:c.G5615A (R1872Q)" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000936457" "0" "90" "12" "52183134" "52183134" "subst" "0" "00006" "SCN8A_000010" "g.52183134G>A" "" "{PMID:Hamdan 2017:29100083}" "" "NM_014191:c.G4351A (G1451S)" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000949984" "0" "70" "12" "52082871" "52082871" "subst" "0" "02329" "SCN8A_000068" "g.52082871G>A" "" "" "" "SCN8A(NM_001330260.2):c.697G>A (p.V233I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000949985" "0" "50" "12" "52100393" "52100393" "subst" "1.26242E-5" "02327" "SCN8A_000228" "g.52100393G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949986" "0" "50" "12" "52163721" "52163721" "subst" "3.8123E-5" "02325" "SCN8A_000043" "g.52163721G>A" "" "" "" "SCN8A(NM_014191.3):c.3442G>A (p.(Val1148Met)), SCN8A(NM_014191.4):c.3442G>A (p.V1148M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949987" "0" "30" "12" "52164465" "52164465" "subst" "3.25145E-5" "02327" "SCN8A_000047" "g.52164465C>T" "" "" "" "SCN8A(NM_014191.4):c.3643C>T (p.L1215=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000959724" "0" "90" "12" "52099285" "52099285" "subst" "0" "00006" "SCN8A_000230" "g.52099285T>G" "" "{PMID:Ostrander 2018:30109124}" "" "" "ACMG PS2, PM2, PM5, PP2, PP3" "De novo" "" "" "0" "" "" "g.51705501T>G" "" "pathogenic (dominant)" "ACMG" "0000959726" "0" "70" "12" "52093447" "52093447" "subst" "0" "00006" "SCN8A_000229" "g.52093447T>C" "" "{PMID:Malcolmson 2016:27900360}, {PMID:Ostrander 2018:30109124}" "" "" "ACMG PS2, PM2, PP2, PP3, PP5" "De novo" "" "" "0" "" "" "g.51699663T>C" "" "likely pathogenic (dominant)" "ACMG" "0000959733" "0" "70" "12" "52159552" "52159552" "subst" "0" "00006" "SCN8A_000231" "g.52159552T>C" "" "{PMID:Ostrander 2018:30109124}" "" "" "ACMG PS2, PM2, PP2, PP3, PP5" "De novo" "" "" "0" "" "" "g.51765768T>C" "" "likely pathogenic (dominant)" "ACMG" "0000966963" "0" "30" "12" "52162891" "52162891" "subst" "0" "02327" "SCN8A_000232" "g.52162891C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966964" "0" "30" "12" "52162951" "52162951" "subst" "0.000208235" "02327" "SCN8A_000233" "g.52162951C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966968" "0" "30" "12" "52188394" "52188394" "subst" "0.000199122" "02325" "SCN8A_000055" "g.52188394C>T" "" "" "" "SCN8A(NM_014191.3):c.4764C>T (p.F1588=), SCN8A(NM_014191.4):c.4764C>T (p.F1588=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966970" "0" "10" "12" "52188409" "52188409" "subst" "0.00393534" "02327" "SCN8A_000056" "g.52188409C>T" "" "" "" "SCN8A(NM_014191.3):c.4779C>T (p.V1593=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000980348" "0" "30" "12" "52056696" "52056696" "subst" "9.76412E-5" "01804" "SCN8A_000086" "g.52056696G>A" "" "" "" "SCN8A(NM_001330260.1):c.95G>A (p.S32N), SCN8A(NM_001330260.2):c.95G>A (p.(Ser32Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980349" "0" "50" "12" "52081004" "52081004" "subst" "0" "01804" "SCN8A_000234" "g.52081004G>A" "" "" "" "SCN8A(NM_001330260.2):c.614+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980350" "0" "30" "12" "52082889" "52082889" "subst" "0" "01804" "SCN8A_000235" "g.52082889A>T" "" "" "" "SCN8A(NM_001330260.2):c.706+9A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980351" "0" "50" "12" "52115490" "52115490" "subst" "0" "02327" "SCN8A_000236" "g.52115490A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980352" "0" "50" "12" "52168112" "52168112" "subst" "0" "01804" "SCN8A_000237" "g.52168112A>G" "" "" "" "SCN8A(NM_001330260.2):c.3785A>G (p.(Asn1262Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000194" "0" "50" "12" "52082546" "52082546" "subst" "2.44016E-5" "01804" "SCN8A_000238" "g.52082546A>G" "" "" "" "SCN8A(NM_001177984.2):c.619A>G (p.(Ile207Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000195" "0" "30" "12" "52082638" "52082638" "subst" "0" "01804" "SCN8A_000185" "g.52082638G>T" "" "" "" "SCN8A(NM_014191.3):c.706+5G>T (p.?), SCN8A(NM_014191.4):c.706+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000196" "0" "50" "12" "52139744" "52139744" "subst" "8.17127E-6" "01804" "SCN8A_000239" "g.52139744G>C" "" "" "" "SCN8A(NM_001177984.2):c.2056G>C (p.(Asp686His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000197" "0" "30" "12" "52162796" "52162796" "subst" "4.06329E-6" "01804" "SCN8A_000240" "g.52162796G>A" "" "" "" "SCN8A(NM_014191.3):c.3049G>A (p.(Ala1017Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000198" "0" "50" "12" "52163117" "52163117" "subst" "0" "01804" "SCN8A_000241" "g.52163117G>A" "" "" "" "SCN8A(NM_001177984.2):c.3370G>A (p.(Asp1124Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000199" "0" "50" "12" "52163721" "52163721" "subst" "3.8123E-5" "01804" "SCN8A_000043" "g.52163721G>A" "" "" "" "SCN8A(NM_014191.3):c.3442G>A (p.(Val1148Met)), SCN8A(NM_014191.4):c.3442G>A (p.V1148M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000200" "0" "50" "12" "52183088" "52183088" "subst" "0" "01804" "SCN8A_000242" "g.52183088G>C" "" "" "" "SCN8A(NM_014191.3):c.4305G>C (p.(Glu1435Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000201" "0" "50" "12" "52188282" "52188282" "subst" "0" "02327" "SCN8A_000243" "g.52188282A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000202" "0" "70" "12" "52200324" "52200324" "subst" "0" "01804" "SCN8A_000244" "g.52200324T>C" "" "" "" "SCN8A(NM_014191.3):c.5054T>C (p.(Met1685Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001000203" "0" "50" "12" "52200905" "52200905" "subst" "0" "01804" "SCN8A_000245" "g.52200905T>G" "" "" "" "SCN8A(NM_014191.3):c.5635T>G (p.(Ser1879Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000204" "0" "30" "12" "52201086" "52201086" "subst" "0" "01804" "SCN8A_000246" "g.52201086C>G" "" "" "" "SCN8A(NM_001177984.2):c.5693C>G (p.(Ser1898Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001007063" "0" "70" "12" "52200876" "52200876" "subst" "0" "01164" "SCN8A_000247" "g.52200876T>C" "" "" "" "" "Classification following ClinGens Epilepsy Sodium Channel Expert Panel for SCN8A: PS2_SUP, PM1, PM5, PM2_SUP, PP3, PS2_SUP" "Germline" "?" "" "0" "" "" "g.51807092T>C" "VCV000420831.10" "likely pathogenic (dominant)" "ACMG" "0001007524" "0" "90" "12" "52200426" "52200427" "del" "0" "00006" "SCN8A_000082" "g.52200426_52200427del" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "rs587776703" "0" "" "" "g.51806642_51806643del" "" "pathogenic" "" "0001011890" "0" "90" "12" "52184239" "52184239" "subst" "0" "00006" "SCN8A_000248" "g.52184239A>G" "" "{PMID:Salinas 2020:33084218}" "" "" "" "Unknown" "" "" "0" "" "" "g.51790455A>G" "RCV000467286.1" "pathogenic" "" "0001014991" "0" "30" "12" "52162894" "52162894" "subst" "4.0845E-5" "02327" "SCN8A_000249" "g.52162894C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014992" "0" "30" "12" "52200475" "52200475" "subst" "4.06124E-6" "02327" "SCN8A_000250" "g.52200475T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001016958" "21" "70" "12" "52115417" "52115417" "subst" "0" "03544" "SCN8A_000251" "g.52115417C>T" "" "" "" "" "inherited from affected mother with mild intellectual disability" "Germline" "yes" "rs1555221488" "0" "" "" "g.51721633C>T" "{CV:3378401}" "likely pathogenic" "ACMG" "0001020089" "0" "70" "12" "52093489" "52093489" "subst" "0" "03544" "SCN8A_000252" "g.52093489G>A" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.51699705G>A" "{CV:3393446}" "likely pathogenic" "ACMG" "0001026200" "0" "50" "12" "52099396" "52099396" "subst" "0" "02327" "SCN8A_000253" "g.52099396G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026201" "0" "30" "12" "52100280" "52100280" "subst" "8.6719E-6" "02327" "SCN8A_000254" "g.52100280C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026202" "0" "50" "12" "52163015" "52163015" "subst" "0" "02327" "SCN8A_000014" "g.52163015C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026203" "0" "30" "12" "52201117" "52201117" "subst" "3.66497E-5" "02327" "SCN8A_000255" "g.52201117T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039318" "0" "50" "12" "52115345" "52115389" "dup" "0" "01804" "SCN8A_000256" "g.52115345_52115389dup" "" "" "" "SCN8A(NM_001330260.2):c.1651_1695dup (p.(Pro551_Ile565dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039319" "0" "30" "12" "52159631" "52159631" "subst" "1.21819E-5" "01804" "SCN8A_000257" "g.52159631G>C" "" "" "" "SCN8A(NM_001330260.2):c.2721G>C (p.(Lys907Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039320" "0" "30" "12" "52188378" "52188378" "subst" "0.000203112" "01804" "SCN8A_000054" "g.52188378T>C" "" "" "" "SCN8A(NM_001330260.2):c.4748T>C (p.(Ile1583Thr)), SCN8A(NM_014191.4):c.4748T>C (p.I1583T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046382" "0" "30" "12" "52093334" "52093334" "subst" "2.9914E-5" "02326" "SCN8A_000132" "g.52093334C>T" "" "" "" "SCN8A(NM_014191.4):c.707-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046383" "0" "50" "12" "52115632" "52115632" "subst" "0" "02325" "SCN8A_000258" "g.52115632C>A" "" "" "" "SCN8A(NM_014191.4):c.1938C>A (p.N646K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046384" "0" "30" "12" "52115659" "52115659" "subst" "0" "02327" "SCN8A_000259" "g.52115659C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046385" "0" "90" "12" "52184209" "52184209" "subst" "0" "02326" "SCN8A_000260" "g.52184209G>A" "" "" "" "SCN8A(NM_014191.4):c.4447G>A (p.E1483K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001046386" "0" "30" "12" "52188352" "52188352" "subst" "0" "02327" "SCN8A_000261" "g.52188352T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001047276" "0" "70" "12" "52200908" "52200908" "subst" "0" "01164" "SCN8A_000262" "g.52200908A>G" "" "" "" "" "ACMG: PS2_MOD, PM5, PP3_MOD, PM2_SUP" "Germline" "?" "" "" "" "" "g.51807124A>G" "VCV001040115.10" "likely pathogenic (dominant)" "ACMG" "0001047503" "0" "50" "12" "52093561" "52093561" "subst" "0" "03544" "SCN8A_000263" "g.52093561A>G" "" "" "" "" "" "De novo" "-" "rs1296360211" "0" "" "" "g.51699777A>G" "{CV:1723004}" "likely pathogenic" "ACMG" "0001054349" "0" "50" "12" "52188203" "52188203" "subst" "0" "01804" "SCN8A_000264" "g.52188203G>A" "" "" "" "SCN8A(NM_001330260.2):c.4573G>A (p.(Asp1525Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001059126" "0" "90" "12" "52159459" "52159459" "subst" "0" "00006" "SCN8A_000265" "g.52159459G>A" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.51765675G>A" "" "pathogenic" "" "0001059127" "0" "90" "12" "52200159" "52200159" "subst" "0" "00006" "SCN8A_000266" "g.52200159T>C" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.51806375T>C" "" "pathogenic" "" "0001059128" "0" "90" "12" "52200885" "52200885" "subst" "0" "00006" "SCN8A_000268" "g.52200885G>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.51807101G>T" "" "pathogenic" "" "0001059129" "0" "90" "12" "52159459" "52159459" "subst" "0" "00006" "SCN8A_000265" "g.52159459G>A" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.51765675G>A" "" "pathogenic" "" "0001059130" "0" "70" "12" "52200884" "52200884" "subst" "0" "00006" "SCN8A_000267" "g.52200884C>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.51807100C>T" "" "likely pathogenic" "" "0001059131" "0" "70" "12" "52159552" "52159552" "subst" "0" "00006" "SCN8A_000231" "g.52159552T>C" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.51765768T>C" "" "likely pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes SCN8A ## Count = 403 "{{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}}" "0000000291" "00025619" "30" "3372" "203" "3372" "203" "c.3372+203G>C" "" "" "" "0000000292" "00025619" "50" "3372" "129" "3372" "129" "c.3372+129A>G" "" "" "" "0000000293" "00025619" "50" "4419" "283" "4419" "283" "c.4419+283C>T" "" "" "" "0000000294" "00025619" "50" "3490" "20" "3490" "20" "c.3490+20G>A" "" "" "" "0000000295" "00025619" "50" "4509" "0" "4509" "0" "c.4509T>C" "" "" "" "0000000296" "00025619" "50" "3076" "0" "3076" "0" "c.3076C>T" "" "" "" "0000079418" "00025619" "90" "4873" "0" "4873" "0" "c.4873G>A" "" "" "" "0000079565" "00025619" "90" "643" "0" "643" "0" "c.643A>G" "" "" "" "0000084835" "00025619" "70" "4351" "0" "4351" "0" "c.4351G>A" "r.(?)" "p.(Gly1451Ser)" "24" "0000174301" "00025619" "90" "5302" "0" "5302" "0" "c.5302A>G" "r.(?)" "p.(Asn1768Asp)" "27" "0000188155" "00025619" "50" "3268" "0" "3268" "0" "c.3268C>A" "" "" "" "0000188177" "00025619" "50" "3044" "0" "3044" "0" "c.3044T>C" "" "" "" "0000188200" "00025619" "50" "929" "-4" "929" "-4" "c.929-4C>G" "" "" "" "0000188453" "00025619" "50" "1717" "0" "1717" "0" "c.1717C>T" "" "" "" "0000249562" "00025619" "30" "2371" "-6" "2371" "-6" "c.2371-6A>G" "r.(=)" "p.(=)" "" "0000251932" "00025619" "30" "4112" "0" "4112" "0" "c.4112A>G" "r.(?)" "p.(Asn1371Ser)" "" "0000252375" "00025619" "70" "5610" "0" "5610" "0" "c.5610A>T" "r.(?)" "p.(Glu1870Asp)" "" "0000252412" "00025619" "70" "415" "0" "415" "0" "c.415A>C" "r.(?)" "p.(Met139Leu)" "" "0000253858" "00025619" "10" "4281" "13" "4281" "13" "c.4281+13A>G" "r.(=)" "p.(=)" "" "0000254719" "00025619" "30" "5506" "0" "5506" "0" "c.5506A>G" "r.(?)" "p.(Met1836Val)" "" "0000298007" "00025619" "10" "1999" "-5" "1999" "-5" "c.1999-5dup" "r.spl?" "p.?" "" "0000298008" "00025619" "10" "2545" "-7" "2545" "-7" "c.2545-7dup" "r.(=)" "p.(=)" "" "0000298009" "00025619" "10" "3490" "20" "3490" "20" "c.3490+20G>A" "r.(=)" "p.(=)" "" "0000298010" "00025619" "30" "3546" "0" "3546" "0" "c.3546G>A" "r.(?)" "p.(Lys1182=)" "" "0000298011" "00025619" "30" "3643" "0" "3643" "0" "c.3643C>T" "r.(?)" "p.(Leu1215=)" "" "0000298012" "00025619" "10" "3822" "0" "3822" "0" "c.3822C>T" "r.(?)" "p.(Val1274=)" "" "0000298013" "00025619" "10" "4509" "0" "4509" "0" "c.4509T>C" "r.(?)" "p.(Pro1503=)" "" "0000298014" "00025619" "30" "4748" "0" "4748" "0" "c.4748T>C" "r.(?)" "p.(Ile1583Thr)" "" "0000298015" "00025619" "30" "5046" "0" "5046" "0" "c.5046C>T" "r.(?)" "p.(Ile1682=)" "" "0000298016" "00025619" "10" "5472" "0" "5472" "0" "c.5472C>A" "r.(?)" "p.(Pro1824=)" "" "0000298017" "00025619" "10" "576" "0" "576" "0" "c.576C>T" "r.(?)" "p.(Asp192=)" "" "0000299355" "00025619" "50" "728" "0" "728" "0" "c.728C>T" "r.(?)" "p.(Ala243Val)" "" "0000301941" "00025619" "10" "1999" "-5" "1999" "-5" "c.1999-5del" "r.spl?" "p.?" "" "0000301942" "00025619" "30" "1999" "-5" "1999" "-5" "c.1999-5T>A" "r.spl?" "p.?" "" "0000301943" "00025619" "10" "2132" "-50" "2132" "-50" "c.2132-50T>G" "r.(=)" "p.(=)" "" "0000301944" "00025619" "10" "2545" "-7" "2545" "-7" "c.2545-7dup" "r.(=)" "p.(=)" "" "0000301945" "00025619" "30" "2545" "-6" "2545" "-6" "c.2545-6C>A" "r.(=)" "p.(=)" "" "0000301947" "00025619" "70" "2942" "0" "2942" "0" "c.2942G>C" "r.(?)" "p.(Ser981Thr)" "" "0000301948" "00025619" "30" "3076" "0" "3076" "0" "c.3076C>T" "r.(?)" "p.(Arg1026Cys)" "" "0000301949" "00025619" "70" "3148" "0" "3148" "0" "c.3148G>A" "r.(?)" "p.(Gly1050Ser)" "" "0000301950" "00025619" "30" "3442" "0" "3442" "0" "c.3442G>A" "r.(?)" "p.(Val1148Met)" "" "0000301951" "00025619" "10" "3490" "129" "3490" "129" "c.3490+129del" "r.(=)" "p.(=)" "" "0000301953" "00025619" "10" "3820" "-80" "3820" "-80" "c.3820-80T>C" "r.(=)" "p.(=)" "" "0000301954" "00025619" "30" "389" "0" "389" "0" "c.389T>C" "r.(?)" "p.(Ile130Thr)" "" "0000301955" "00025619" "30" "4748" "0" "4748" "0" "c.4748T>C" "r.(?)" "p.(Ile1583Thr)" "" "0000301956" "00025619" "90" "4787" "0" "4787" "0" "c.4787C>G" "r.(?)" "p.(Ser1596Cys)" "" "0000301957" "00025619" "10" "4795" "11" "4795" "11" "c.4795+11T>C" "r.(=)" "p.(=)" "" "0000301958" "00025619" "10" "5472" "0" "5472" "0" "c.5472C>A" "r.(?)" "p.(Pro1824=)" "" "0000301959" "00025619" "30" "5601" "0" "5601" "0" "c.5601G>A" "r.(?)" "p.(Gln1867=)" "" "0000301960" "00025619" "90" "641" "0" "641" "0" "c.641G>A" "r.(?)" "p.(Gly214Asp)" "" "0000301961" "00025619" "30" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Cys)" "" "0000301962" "00025619" "30" "928" "9" "928" "9" "c.928+9C>T" "r.(=)" "p.(=)" "" "0000307818" "00025619" "50" "1460" "0" "1460" "0" "c.1460G>T" "r.(?)" "p.(Ser487Ile)" "" "0000307819" "00025619" "30" "1620" "0" "1620" "0" "c.1620T>C" "r.(?)" "p.(Phe540=)" "" "0000307820" "00025619" "30" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Ala607Thr)" "" "0000307822" "00025619" "10" "3490" "20" "3490" "20" "c.3490+20G>A" "r.(=)" "p.(=)" "" "0000307823" "00025619" "30" "3822" "0" "3822" "0" "c.3822C>T" "r.(?)" "p.(Val1274=)" "" "0000307824" "00025619" "10" "4122" "0" "4122" "0" "c.4122T>A" "r.(?)" "p.(Thr1374=)" "" "0000307825" "00025619" "10" "4509" "0" "4509" "0" "c.4509T>C" "r.(?)" "p.(Pro1503=)" "" "0000307826" "00025619" "30" "4764" "0" "4764" "0" "c.4764C>T" "r.(?)" "p.(Phe1588=)" "" "0000307827" "00025619" "10" "4779" "0" "4779" "0" "c.4779C>T" "r.(?)" "p.(Val1593=)" "" "0000307828" "00025619" "50" "5149" "0" "5149" "0" "c.5149C>T" "r.(?)" "p.(Arg1717Cys)" "" "0000307829" "00025619" "10" "5472" "0" "5472" "0" "c.5472C>A" "r.(?)" "p.(Pro1824=)" "" "0000307830" "00025619" "30" "5601" "0" "5601" "0" "c.5601G>A" "r.(?)" "p.(Gln1867=)" "" "0000307831" "00025619" "10" "576" "0" "576" "0" "c.576C>T" "r.(?)" "p.(Asp192=)" "" "0000322857" "00025619" "30" "396" "-6" "396" "-6" "c.396-6C>T" "r.(=)" "p.(=)" "" "0000322858" "00025619" "50" "599" "0" "599" "0" "c.599G>A" "r.(?)" "p.(Ser200Asn)" "" "0000322859" "00025619" "50" "1855" "0" "1863" "0" "c.1855_1863del" "r.(?)" "p.(Gly619_Ser621del)" "" "0000322862" "00025619" "50" "2002" "0" "2002" "0" "c.2002A>G" "r.(?)" "p.(Thr668Ala)" "" "0000322865" "00025619" "50" "5558" "0" "5558" "0" "c.5558A>G" "r.(?)" "p.(Lys1853Arg)" "" "0000338362" "00025619" "10" "3490" "20" "3490" "20" "c.3490+20G>A" "r.(=)" "p.(=)" "" "0000338363" "00025619" "10" "4281" "13" "4281" "13" "c.4281+13A>G" "r.(=)" "p.(=)" "" "0000340717" "00025619" "10" "576" "0" "576" "0" "c.576C>T" "r.(?)" "p.(Asp192=)" "" "0000340894" "00025619" "10" "4509" "0" "4509" "0" "c.4509T>C" "r.(?)" "p.(Pro1503=)" "" "0000340898" "00025619" "10" "5472" "0" "5472" "0" "c.5472C>A" "r.(?)" "p.(Pro1824=)" "" "0000341099" "00025619" "50" "3136" "0" "3136" "0" "c.3136G>A" "r.(?)" "p.(Ala1046Thr)" "" "0000342020" "00025619" "70" "4850" "0" "4850" "0" "c.4850G>C" "r.(?)" "p.(Arg1617Pro)" "" "0000342029" "00025619" "90" "4886" "0" "4886" "0" "c.4886G>A" "r.(?)" "p.(Arg1629His)" "" "0000342136" "00025619" "90" "5615" "0" "5615" "0" "c.5615G>A" "r.(?)" "p.(Arg1872Gln)" "" "0000343493" "00025619" "90" "2791" "0" "2791" "0" "c.2791C>T" "r.(?)" "p.(Arg931Ter)" "" "0000343631" "00025619" "90" "5630" "0" "5630" "0" "c.5630A>G" "r.(?)" "p.(Asn1877Ser)" "" "0000345730" "00025619" "90" "4351" "0" "4351" "0" "c.4351G>A" "r.(?)" "p.(Gly1451Ser)" "" "0000347408" "00025619" "50" "4170" "0" "4170" "0" "c.4170G>T" "r.(?)" "p.(Lys1390Asn)" "" "0000347452" "00025619" "50" "5558" "0" "5558" "0" "c.5558A>G" "r.(?)" "p.(Lys1853Arg)" "" "0000348038" "00025619" "50" "1200" "0" "1200" "0" "c.1200C>A" "r.(?)" "p.(Phe400Leu)" "" "0000348082" "00025619" "30" "1890" "0" "1890" "0" "c.1890C>G" "r.(?)" "p.(Phe630Leu)" "" "0000349329" "00025619" "50" "5555" "0" "5555" "0" "c.5555C>T" "r.(?)" "p.(Thr1852Ile)" "" "0000349340" "00025619" "50" "53" "0" "53" "0" "c.53C>A" "r.(?)" "p.(Thr18Asn)" "" "0000350412" "00025619" "50" "706" "238" "706" "238" "c.706+238G>A" "r.(=)" "p.(=)" "" "0000350413" "00025619" "90" "697" "0" "697" "0" "c.697G>C" "r.(?)" "p.(Val233Leu)" "" "0000368220" "00025619" "90" "5156" "0" "5156" "0" "c.5156C>G" "r.(?)" "p.Pro1719Arg" "" "0000368258" "00025619" "90" "2890" "0" "2890" "0" "c.2890G>C" "r.(?)" "p.(Gly964Arg)" "16" "0000368259" "00025619" "90" "3652" "0" "3652" "0" "c.3652G>A" "r.(?)" "p.(Glu1218Lys)" "20" "0000368260" "00025619" "90" "5156" "0" "5157" "0" "c.5156_5157del" "r.(?)" "p.(Pro1719Argfs*6)" "27" "0000400781" "00025619" "90" "5615" "0" "5615" "0" "c.5615G>A" "r.(?)" "p.(Arg1872Gln)" "" "0000441099" "00025619" "50" "3442" "0" "3442" "0" "c.3442G>A" "r.(?)" "p.Val1148Met" "" "0000478744" "00025619" "50" "740" "0" "740" "0" "c.740C>A" "r.(?)" "p.(Ser247Tyr)" "" "0000548468" "00025619" "30" "95" "0" "95" "0" "c.95G>A" "r.(?)" "p.(Ser32Asn)" "" "0000548470" "00025619" "50" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Cys)" "" "0000548471" "00025619" "90" "667" "0" "667" "0" "c.667A>G" "r.(?)" "p.(Arg223Gly)" "" "0000548472" "00025619" "30" "744" "0" "744" "0" "c.744G>A" "r.(?)" "p.(Val248=)" "" "0000548473" "00025619" "30" "751" "0" "751" "0" "c.751C>T" "r.(?)" "p.(Leu251=)" "" "0000548474" "00025619" "70" "752" "0" "752" "0" "c.752T>C" "r.(?)" "p.(Leu251Pro)" "" "0000548475" "00025619" "90" "779" "0" "779" "0" "c.779T>C" "r.(?)" "p.(Phe260Ser)" "" "0000548476" "00025619" "70" "979" "0" "979" "0" "c.979A>C" "r.(?)" "p.(Ser327Arg)" "" "0000548477" "00025619" "30" "1470" "0" "1470" "0" "c.1470A>G" "r.(?)" "p.(Glu490=)" "" "0000548478" "00025619" "30" "1779" "0" "1779" "0" "c.1779G>C" "r.(?)" "p.(Glu593Asp)" "" "0000548480" "00025619" "90" "1849" "0" "1849" "0" "c.1849dup" "r.(?)" "p.(Tyr617LeufsTer54)" "" "0000548481" "00025619" "50" "1855" "0" "1863" "0" "c.1855_1863del" "r.(?)" "p.(Gly619_Ser621del)" "" "0000548482" "00025619" "30" "1963" "0" "1963" "0" "c.1963C>T" "r.(?)" "p.(Pro655Ser)" "" "0000548483" "00025619" "30" "1999" "-4" "1999" "-4" "c.1999-4A>T" "r.spl?" "p.?" "" "0000548484" "00025619" "30" "2002" "0" "2002" "0" "c.2002A>G" "r.(?)" "p.(Thr668Ala)" "" "0000548485" "00025619" "50" "2042" "0" "2042" "0" "c.2042T>A" "r.(?)" "p.(Leu681His)" "" "0000548486" "00025619" "50" "2045" "0" "2045" "0" "c.2045T>C" "r.(?)" "p.(Leu682Ser)" "" "0000548487" "00025619" "30" "2109" "0" "2109" "0" "c.2109T>C" "r.(?)" "p.(Val703=)" "" "0000548488" "00025619" "30" "2109" "0" "2109" "0" "c.2109T>C" "r.(?)" "p.(Val703=)" "" "0000548489" "00025619" "30" "2127" "0" "2127" "0" "c.2127A>C" "r.(?)" "p.(Val709=)" "" "0000548490" "00025619" "10" "2545" "-7" "2545" "-7" "c.2545-7dup" "r.(=)" "p.(=)" "" "0000548491" "00025619" "10" "2545" "-5" "2545" "-5" "c.2545-5dup" "r.spl?" "p.?" "" "0000548493" "00025619" "30" "2586" "0" "2586" "0" "c.2586C>T" "r.(?)" "p.(Asn862=)" "" "0000548494" "00025619" "50" "2630" "0" "2630" "0" "c.2630A>G" "r.(?)" "p.(Asn877Ser)" "" "0000548496" "00025619" "30" "3435" "0" "3435" "0" "c.3435G>C" "r.(?)" "p.(Glu1145Asp)" "" "0000548497" "00025619" "50" "3529" "0" "3529" "0" "c.3529G>A" "r.(?)" "p.(Glu1177Lys)" "" "0000548499" "00025619" "50" "3794" "0" "3794" "0" "c.3794G>A" "r.(?)" "p.(Cys1265Tyr)" "" "0000548500" "00025619" "10" "3820" "-649" "3820" "-647" "c.3820-649_3820-647dup" "r.(=)" "p.(=)" "" "0000548501" "00025619" "10" "3820" "-592" "3820" "-592" "c.3820-592C>T" "r.(=)" "p.(=)" "" "0000548502" "00025619" "30" "3820" "-7" "3820" "-7" "c.3820-7T>C" "r.(=)" "p.(=)" "" "0000548504" "00025619" "30" "3957" "0" "3957" "0" "c.3957C>T" "r.(?)" "p.(Ala1319=)" "" "0000548505" "00025619" "70" "4378" "0" "4378" "0" "c.4378A>G" "r.(?)" "p.(Ile1460Val)" "" "0000548507" "00025619" "90" "4474" "0" "4474" "0" "c.4474A>G" "r.(?)" "p.(Met1492Val)" "" "0000548509" "00025619" "50" "4622" "0" "4622" "0" "c.4622T>G" "r.(?)" "p.(Val1541Gly)" "" "0000548510" "00025619" "30" "4764" "0" "4764" "0" "c.4764C>T" "r.(?)" "p.(Phe1588=)" "" "0000548511" "00025619" "90" "4787" "0" "4787" "0" "c.4787C>G" "r.(?)" "p.(Ser1596Cys)" "" "0000548512" "00025619" "90" "4850" "0" "4850" "0" "c.4850G>A" "r.(?)" "p.(Arg1617Gln)" "" "0000548513" "00025619" "50" "5067" "0" "5067" "0" "c.5067G>C" "r.(?)" "p.(Glu1689Asp)" "" "0000548514" "00025619" "70" "5458" "0" "5458" "0" "c.5458C>T" "r.(?)" "p.(Arg1820Ter)" "" "0000548515" "00025619" "50" "5522" "0" "5522" "0" "c.5522G>A" "r.(?)" "p.(Arg1841His)" "" "0000548516" "00025619" "30" "5619" "0" "5619" "0" "c.5619C>T" "r.(?)" "p.(Phe1873=)" "" "0000548517" "00025619" "50" "5895" "0" "5897" "0" "c.5895_5897del" "r.(?)" "p.(Arg1966del)" "" "0000548518" "00025619" "30" "5946" "0" "5948" "0" "c.*3_*5del" "r.(=)" "p.(=)" "" "0000598530" "00025619" "50" "3710" "0" "3710" "0" "c.3710A>G" "r.(?)" "p.(Lys1237Arg)" "" "0000604480" "00025619" "50" "5515" "0" "5515" "0" "c.5515G>A" "r.(?)" "p.(Gly1839Arg)" "" "0000614254" "00025619" "30" "327" "0" "327" "0" "c.327G>A" "r.(?)" "p.(Thr109=)" "" "0000614255" "00025619" "50" "686" "0" "686" "0" "c.686A>G" "r.(?)" "p.(Lys229Arg)" "" "0000614256" "00025619" "30" "707" "-20" "707" "-20" "c.707-20C>T" "r.(=)" "p.(=)" "" "0000614257" "00025619" "50" "1020" "0" "1020" "0" "c.1020G>A" "r.(?)" "p.(Met340Ile)" "" "0000614258" "00025619" "30" "1470" "0" "1470" "0" "c.1470A>G" "r.(?)" "p.(Glu490=)" "" "0000614259" "00025619" "30" "1534" "0" "1534" "0" "c.1534C>T" "r.(?)" "p.(Pro512Ser)" "" "0000614260" "00025619" "50" "1769" "0" "1769" "0" "c.1769C>T" "r.(?)" "p.(Thr590Met)" "" "0000614262" "00025619" "30" "1779" "0" "1779" "0" "c.1779G>C" "r.(?)" "p.(Glu593Asp)" "" "0000614263" "00025619" "30" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Ala607Thr)" "" "0000614264" "00025619" "30" "1833" "0" "1833" "0" "c.1833G>T" "r.(?)" "p.(Arg611=)" "" "0000614265" "00025619" "50" "1876" "0" "1876" "0" "c.1876T>A" "r.(?)" "p.(Ser626Thr)" "" "0000614266" "00025619" "50" "2531" "0" "2531" "0" "c.2531G>A" "r.(?)" "p.(Arg844Gln)" "" "0000614267" "00025619" "30" "2670" "0" "2670" "0" "c.2670C>T" "r.(?)" "p.(Ala890=)" "" "0000614268" "00025619" "50" "2836" "0" "2836" "0" "c.2836G>A" "r.(?)" "p.(Glu946Lys)" "" "0000614269" "00025619" "10" "3076" "0" "3076" "0" "c.3076C>T" "r.(?)" "p.(Arg1026Cys)" "" "0000614270" "00025619" "30" "3373" "-9" "3373" "-9" "c.3373-9C>T" "r.(=)" "p.(=)" "" "0000614271" "00025619" "30" "3423" "0" "3423" "0" "c.3423A>G" "r.(?)" "p.(Pro1141=)" "" "0000614272" "00025619" "50" "3509" "0" "3509" "0" "c.3509A>G" "r.(?)" "p.(Lys1170Arg)" "" "0000614273" "00025619" "30" "3966" "0" "3966" "0" "c.3966C>T" "r.(?)" "p.(Gly1322=)" "" "0000614274" "00025619" "30" "4122" "0" "4122" "0" "c.4122T>A" "r.(?)" "p.(Thr1374=)" "" "0000614275" "00025619" "30" "4350" "0" "4350" "0" "c.4350C>T" "r.(?)" "p.(Phe1450=)" "" "0000614276" "00025619" "70" "4531" "0" "4531" "0" "c.4531dup" "r.(?)" "p.(Ile1511AsnfsTer7)" "" "0000614277" "00025619" "30" "4748" "0" "4748" "0" "c.4748T>C" "r.(?)" "p.(Ile1583Thr)" "" "0000614279" "00025619" "30" "5229" "0" "5229" "0" "c.5229C>A" "r.(?)" "p.(Ile1743=)" "" "0000614280" "00025619" "50" "5560" "0" "5560" "0" "c.5560C>T" "r.(?)" "p.(Arg1854Trp)" "" "0000614281" "00025619" "50" "5633" "0" "5633" "0" "c.5633C>T" "r.(?)" "p.(Pro1878Leu)" "" "0000614282" "00025619" "30" "5879" "0" "5879" "0" "c.5879G>A" "r.(?)" "p.(Arg1960Gln)" "" "0000629933" "00025619" "50" "4873" "0" "4873" "0" "c.4873G>A" "r.(?)" "p.(Gly1625Arg)" "" "0000630863" "00025619" "70" "2424" "0" "2424" "0" "c.2424dup" "r.(?)" "p.(Pro809Serfs*13)" "" "0000648597" "00025619" "30" "2371" "-6" "2371" "-6" "c.2371-6A>G" "" "" "" "0000648598" "00025619" "70" "2534" "0" "2534" "0" "c.2534C>T" "" "" "" "0000648599" "00025619" "30" "3076" "0" "3076" "0" "c.3076C>T" "" "" "" "0000648600" "00025619" "90" "4949" "0" "4949" "0" "c.4949C>T" "" "" "" "0000657141" "00025619" "50" "272" "0" "272" "0" "c.272A>C" "r.(?)" "p.(Gln91Pro)" "" "0000657142" "00025619" "30" "975" "0" "975" "0" "c.975G>A" "r.(?)" "p.(Gly325=)" "" "0000657144" "00025619" "30" "2632" "0" "2632" "0" "c.2632C>T" "r.(?)" "p.(Leu878=)" "" "0000657145" "00025619" "30" "3822" "0" "3822" "0" "c.3822C>T" "r.(?)" "p.(Val1274=)" "" "0000657146" "00025619" "30" "5795" "0" "5795" "0" "c.5795G>C" "r.(?)" "p.(Arg1932Pro)" "" "0000665627" "00025619" "50" "5515" "0" "5515" "0" "c.5515G>A" "r.(?)" "p.(Gly1839Arg)" "" "0000667202" "00025619" "70" "4351" "0" "4351" "0" "c.4351G>A" "r.(?)" "p.(Gly1451Ser)" "" "0000667695" "00025619" "90" "3991" "0" "3991" "0" "c.3991C>G" "r.(?)" "p.(Leu1290Val)" "" "0000667713" "00025619" "50" "1984" "0" "1984" "0" "c.1984C>T" "r.(?)" "p.(Arg662Cys)" "" "0000667714" "00025619" "50" "5615" "0" "5615" "0" "c.5615G>A" "r.(?)" "p.(Arg1831Gln)" "" "0000669185" "00025619" "30" "3076" "0" "3076" "0" "c.3076C>T" "" "" "" "0000673705" "00025619" "70" "2464" "0" "2464" "0" "c.2464G>A" "r.(?)" "p.(Gly822Arg)" "" "0000673712" "00025619" "70" "4912" "0" "4912" "0" "c.4912C>T" "r.(?)" "p.(Arg1638Cys)" "" "0000673856" "00025619" "70" "1391" "0" "1391" "0" "c. 1391A>G" "r.(?)" "p.Glu464Ala" "" "0000679574" "00025619" "30" "1509" "0" "1509" "0" "c.1509C>A" "r.(?)" "p.(Leu503=)" "" "0000679575" "00025619" "50" "3007" "0" "3007" "0" "c.3007C>T" "r.(?)" "p.(Arg1003Cys)" "" "0000679576" "00025619" "30" "3957" "0" "3957" "0" "c.3957C>T" "r.(?)" "p.(Ala1319=)" "" "0000679577" "00025619" "90" "4227" "1" "4227" "1" "c.4227+1G>T" "r.spl?" "p.?" "" "0000679578" "00025619" "30" "4278" "0" "4278" "0" "c.4278G>A" "r.(?)" "p.(Arg1426=)" "" "0000683341" "00025619" "70" "2530" "0" "2530" "0" "c.2530C>T" "r.(?)" "p.(Arg844*)" "" "0000691368" "00025619" "50" "1876" "0" "1876" "0" "c.1876T>C" "r.(?)" "p.(Ser626Pro)" "" "0000691369" "00025619" "70" "4186" "0" "4192" "0" "c.4186_4192del" "r.(?)" "p.(Phe1396MetfsTer12)" "" "0000691370" "00025619" "90" "4814" "0" "4814" "0" "c.4814T>C" "r.(?)" "p.(Ile1605Thr)" "" "0000691371" "00025619" "30" "4962" "0" "4962" "0" "c.4962C>T" "r.(?)" "p.(Ile1654=)" "" "0000704176" "00025619" "70" "641" "0" "641" "0" "c.641G>A" "r.(?)" "p.(Gly214Asp)" "" "0000714881" "00025619" "50" "5392" "0" "5392" "0" "c.5392G>A" "r.(?)" "p.(Asp1798Asn)" "" "0000724120" "00025619" "50" "269" "0" "269" "0" "c.269C>T" "r.(?)" "p.(Thr90Met)" "" "0000724121" "00025619" "70" "1215" "0" "1215" "0" "c.1215del" "r.(?)" "p.(Ile406SerfsTer58)" "" "0000724122" "00025619" "50" "1779" "0" "1779" "0" "c.1779G>C" "r.(?)" "p.(Glu593Asp)" "" "0000724123" "00025619" "70" "2548" "0" "2548" "0" "c.2548C>T" "r.(?)" "p.(Arg850*)" "" "0000724124" "00025619" "50" "2566" "0" "2566" "0" "c.2566A>G" "r.(?)" "p.(Lys856Glu)" "" "0000724125" "00025619" "50" "3442" "0" "3442" "0" "c.3442G>A" "r.(?)" "p.(Val1148Met)" "" "0000724126" "00025619" "30" "4281" "8" "4281" "8" "c.4281+8T>C" "r.(=)" "p.(=)" "" "0000724127" "00025619" "70" "4378" "0" "4378" "0" "c.4378A>G" "r.(?)" "p.(Ile1460Val)" "" "0000785868" "00025619" "90" "647" "0" "647" "0" "c.647T>A" "r.(?)" "p.(Val216Asp)" "7" "0000787387" "00025619" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "5" "0000787388" "00025619" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "7" "0000787389" "00025619" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "12" "0000787442" "00025619" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "13" "0000787604" "00025619" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "27" "0000787607" "00025619" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "2" "0000805812" "00025619" "30" "508" "0" "508" "0" "c.508A>T" "r.(?)" "p.(Thr170Ser)" "" "0000805813" "00025619" "30" "1740" "0" "1740" "0" "c.1740G>A" "r.(?)" "p.(Glu580=)" "" "0000805814" "00025619" "50" "2273" "0" "2273" "0" "c.2273C>T" "r.(?)" "p.(Ala758Val)" "" "0000805815" "00025619" "30" "2586" "0" "2586" "0" "c.2586C>T" "r.(?)" "p.(Asn862=)" "" "0000805816" "00025619" "30" "2632" "0" "2632" "0" "c.2632C>T" "r.(?)" "p.(Leu878=)" "" "0000805817" "00025619" "30" "3321" "0" "3321" "0" "c.3321C>T" "r.(?)" "p.(Asn1107=)" "" "0000805818" "00025619" "30" "5046" "0" "5046" "0" "c.5046C>T" "r.(?)" "p.(Ile1682=)" "" "0000805819" "00025619" "70" "5630" "0" "5630" "0" "c.5630A>G" "r.(?)" "p.(Asn1877Ser)" "" "0000817872" "00025619" "70" "1790" "0" "1790" "0" "c.1790G>A" "r.(?)" "p.(Arg597His)" "" "0000839770" "00025619" "70" "3967" "0" "3967" "0" "c.3967G>A" "r.(?)" "p.(Ala1323Thr)" "" "0000845947" "00025619" "50" "2105" "0" "2105" "0" "c.2105G>C" "r.(?)" "p.(Ser702Thr)" "13" "0000853437" "00025619" "30" "706" "5" "706" "5" "c.706+5G>T" "r.spl?" "p.?" "" "0000853437" "00025703" "30" "615" "-151" "615" "-151" "c.615-151G>T" "r.(=)" "p.(=)" "" "0000853438" "00025619" "30" "2661" "0" "2661" "0" "c.2661C>T" "r.(?)" "p.(Phe887=)" "" "0000853438" "00025703" "30" "2661" "0" "2661" "0" "c.2661C>T" "r.(?)" "p.(Phe887=)" "" "0000853439" "00025619" "30" "3126" "0" "3126" "0" "c.3126C>T" "r.(?)" "p.(Ala1042=)" "" "0000853439" "00025703" "30" "3126" "0" "3126" "0" "c.3126C>T" "r.(?)" "p.(Ala1042=)" "" "0000853440" "00025619" "30" "3375" "0" "3375" "0" "c.3375A>G" "r.(?)" "p.(Lys1125=)" "" "0000853440" "00025703" "30" "3375" "0" "3375" "0" "c.3375A>G" "r.(?)" "p.(Lys1125=)" "" "0000853441" "00025619" "30" "3768" "0" "3768" "0" "c.3768C>T" "r.(?)" "p.(Phe1256=)" "" "0000853441" "00025703" "30" "3768" "0" "3768" "0" "c.3768C>T" "r.(?)" "p.(Phe1256=)" "" "0000853442" "00025619" "30" "3957" "0" "3957" "0" "c.3957C>T" "r.(?)" "p.(Ala1319=)" "" "0000853443" "00025619" "30" "4743" "0" "4743" "0" "c.4743C>T" "r.(?)" "p.(Phe1581=)" "" "0000853443" "00025703" "30" "4743" "0" "4743" "0" "c.4743C>T" "r.(?)" "p.(Phe1581=)" "" "0000853444" "00025619" "50" "5015" "0" "5015" "0" "c.5015A>G" "r.(?)" "p.(Asn1672Ser)" "" "0000853444" "00025703" "50" "5015" "0" "5015" "0" "c.5015A>G" "r.(?)" "p.(Asn1672Ser)" "" "0000853445" "00025619" "30" "5883" "0" "5883" "0" "c.5883A>G" "r.(?)" "p.(Ala1961=)" "" "0000853445" "00025703" "30" "5883" "0" "5883" "0" "c.5883A>G" "r.(?)" "p.(Ala1961=)" "" "0000863036" "00025619" "50" "2576" "0" "2576" "0" "c.2576C>G" "r.(?)" "p.(Pro859Arg)" "" "0000863036" "00025703" "50" "2576" "0" "2576" "0" "c.2576C>G" "r.(?)" "p.(Pro859Arg)" "" "0000863037" "00025619" "30" "2759" "0" "2759" "0" "c.2759A>G" "r.(?)" "p.(His920Arg)" "" "0000863037" "00025703" "30" "2759" "0" "2759" "0" "c.2759A>G" "r.(?)" "p.(His920Arg)" "" "0000863038" "00025619" "30" "3076" "0" "3076" "0" "c.3076C>T" "r.(?)" "p.(Arg1026Cys)" "" "0000863039" "00025619" "90" "3967" "0" "3967" "0" "c.3967G>T" "r.(?)" "p.(Ala1323Ser)" "" "0000863039" "00025703" "90" "3967" "0" "3967" "0" "c.3967G>T" "r.(?)" "p.(Ala1323Ser)" "" "0000863040" "00025619" "50" "4238" "0" "4238" "0" "c.4238A>G" "r.(?)" "p.(Lys1413Arg)" "" "0000863040" "00025703" "50" "4238" "0" "4238" "0" "c.4238A>G" "r.(?)" "p.(Lys1413Arg)" "" "0000863041" "00025619" "30" "4962" "0" "4962" "0" "c.4962C>T" "r.(?)" "p.(Ile1654=)" "" "0000863042" "00025619" "30" "5761" "0" "5761" "0" "c.5761A>C" "r.(?)" "p.(Thr1921Pro)" "" "0000863042" "00025703" "30" "5761" "0" "5761" "0" "c.5761A>C" "r.(?)" "p.(Thr1921Pro)" "" "0000890656" "00025619" "50" "10" "0" "10" "0" "c.10C>T" "r.(?)" "p.(Arg4Trp)" "" "0000890656" "00025703" "50" "10" "0" "10" "0" "c.10C>T" "r.(?)" "p.(Arg4Trp)" "" "0000890657" "00025619" "30" "706" "5" "706" "5" "c.706+5G>T" "r.spl?" "p.?" "" "0000890657" "00025703" "30" "615" "-151" "615" "-151" "c.615-151G>T" "r.(=)" "p.(=)" "" "0000890658" "00025619" "30" "1026" "0" "1026" "0" "c.1026A>T" "r.(?)" "p.(Ala342=)" "" "0000890658" "00025703" "30" "1026" "0" "1026" "0" "c.1026A>T" "r.(?)" "p.(Ala342=)" "" "0000890659" "00025619" "30" "2056" "0" "2056" "0" "c.2056G>A" "r.(?)" "p.(Asp686Asn)" "" "0000890659" "00025703" "30" "2056" "0" "2056" "0" "c.2056G>A" "r.(?)" "p.(Asp686Asn)" "" "0000890660" "00025619" "30" "2301" "0" "2301" "0" "c.2301A>G" "r.(?)" "p.(Thr767=)" "" "0000890660" "00025703" "30" "2301" "0" "2301" "0" "c.2301A>G" "r.(?)" "p.(Thr767=)" "" "0000890661" "00025619" "50" "3113" "0" "3113" "0" "c.3113A>G" "r.(?)" "p.(Tyr1038Cys)" "" "0000890661" "00025703" "50" "3113" "0" "3113" "0" "c.3113A>G" "r.(?)" "p.(Tyr1038Cys)" "" "0000890662" "00025619" "30" "3327" "0" "3327" "0" "c.3327C>T" "r.(?)" "p.(Asn1109=)" "" "0000890662" "00025703" "30" "3327" "0" "3327" "0" "c.3327C>T" "r.(?)" "p.(Asn1109=)" "" "0000890663" "00025619" "50" "4319" "0" "4319" "0" "c.4319T>C" "r.(?)" "p.(Met1440Thr)" "" "0000890663" "00025703" "50" "4319" "0" "4319" "0" "c.4319T>C" "r.(?)" "p.(Met1440Thr)" "" "0000890664" "00025619" "70" "4328" "0" "4328" "0" "c.4328A>G" "r.(?)" "p.(Tyr1443Cys)" "" "0000890664" "00025703" "70" "4328" "0" "4328" "0" "c.4328A>G" "r.(?)" "p.(Tyr1443Cys)" "" "0000890665" "00025619" "70" "4492" "0" "4492" "0" "c.4492A>G" "r.(?)" "p.(Lys1498Glu)" "" "0000890665" "00025703" "70" "4492" "0" "4492" "0" "c.4492A>G" "r.(?)" "p.(Lys1498Glu)" "" "0000890666" "00025619" "30" "4687" "0" "4687" "0" "c.4687A>G" "r.(?)" "p.(Ile1563Val)" "" "0000890666" "00025703" "30" "4687" "0" "4687" "0" "c.4687A>G" "r.(?)" "p.(Ile1563Val)" "" "0000890667" "00025619" "30" "4969" "0" "4969" "0" "c.4969C>T" "r.(?)" "p.(Leu1657=)" "" "0000890667" "00025703" "30" "4969" "0" "4969" "0" "c.4969C>T" "r.(?)" "p.(Leu1657=)" "" "0000899405" "00025703" "50" "4277" "0" "4277" "0" "c.4277G>A" "r.(?)" "p.(Arg1426Gln)" "" "0000913876" "00025619" "30" "270" "0" "270" "0" "c.270G>T" "r.(?)" "p.(Thr90=)" "" "0000913876" "00025703" "30" "270" "0" "270" "0" "c.270G>T" "r.(?)" "p.(Thr90=)" "" "0000913877" "00025619" "30" "810" "0" "810" "0" "c.810G>A" "r.(?)" "p.(Leu270=)" "" "0000913877" "00025703" "30" "810" "0" "810" "0" "c.810G>A" "r.(?)" "p.(Leu270=)" "" "0000913878" "00025619" "30" "1349" "0" "1349" "0" "c.1349C>T" "r.(?)" "p.(Ala450Val)" "" "0000913878" "00025703" "30" "1349" "0" "1349" "0" "c.1349C>T" "r.(?)" "p.(Ala450Val)" "" "0000913879" "00025619" "50" "1829" "0" "1829" "0" "c.1829G>C" "r.(?)" "p.(Arg610Pro)" "" "0000913879" "00025703" "50" "1829" "0" "1829" "0" "c.1829G>C" "r.(?)" "p.(Arg610Pro)" "" "0000913880" "00025619" "50" "2154" "0" "2154" "0" "c.2154G>T" "r.(?)" "p.(Lys718Asn)" "" "0000913880" "00025703" "50" "2154" "0" "2154" "0" "c.2154G>T" "r.(?)" "p.(Lys718Asn)" "" "0000913881" "00025619" "30" "3833" "0" "3833" "0" "c.3833G>A" "r.(?)" "p.(Ser1278Asn)" "" "0000913881" "00025703" "30" "3833" "0" "3833" "0" "c.3833G>A" "r.(?)" "p.(Ser1278Asn)" "" "0000913882" "00025619" "50" "4583" "0" "4583" "0" "c.4583T>C" "r.(?)" "p.(Ile1528Thr)" "" "0000913882" "00025703" "50" "4583" "0" "4583" "0" "c.4583T>C" "r.(?)" "p.(Ile1528Thr)" "" "0000925654" "00025619" "50" "1450" "0" "1450" "0" "c.1450A>G" "r.(?)" "p.(Ser484Gly)" "" "0000925654" "00025703" "50" "1450" "0" "1450" "0" "c.1450A>G" "r.(?)" "p.(Ser484Gly)" "" "0000925655" "00025619" "50" "2042" "0" "2042" "0" "c.2042T>A" "r.(?)" "p.(Leu681His)" "" "0000925656" "00025619" "30" "2078" "0" "2078" "0" "c.2078G>A" "r.(?)" "p.(Arg693Gln)" "" "0000925656" "00025703" "30" "2078" "0" "2078" "0" "c.2078G>A" "r.(?)" "p.(Arg693Gln)" "" "0000925657" "00025619" "30" "2685" "0" "2685" "0" "c.2685A>G" "r.(?)" "p.(Gln895=)" "" "0000925657" "00025703" "30" "2685" "0" "2685" "0" "c.2685A>G" "r.(?)" "p.(Gln895=)" "" "0000925658" "00025619" "30" "5694" "0" "5694" "0" "c.5694T>A" "r.(?)" "p.(Ser1898=)" "" "0000925658" "00025703" "30" "5694" "0" "5694" "0" "c.5694T>A" "r.(?)" "p.(Ser1898=)" "" "0000930110" "00025619" "50" "615" "-3" "615" "-3" "c.615-3C>G" "r.spl?" "p.?" "" "0000930110" "00025703" "50" "615" "-250" "615" "-250" "c.615-250C>G" "r.(=)" "p.(=)" "" "0000930111" "00025619" "30" "3810" "0" "3810" "0" "c.3810C>T" "r.(?)" "p.(=)" "" "0000930111" "00025703" "30" "3810" "0" "3810" "0" "c.3810C>T" "r.(?)" "p.(Leu1270=)" "" "0000933296" "00025619" "70" "3926" "0" "3926" "0" "c.3926G>A" "r.(?)" "p.(Arg1309Gln)" "" "0000935915" "00025619" "70" "1622" "0" "1622" "0" "c.1622C>A" "" "" "" "0000935929" "00025619" "90" "1588" "0" "1588" "0" "c.1588C>T" "" "" "" "0000936020" "00025619" "70" "3893" "0" "3893" "0" "c.3893T>C" "" "" "" "0000936247" "00025619" "70" "3967" "0" "3967" "0" "c.3967G>A" "" "" "" "0000936371" "00025619" "90" "4419" "1" "4419" "1" "c.4419+1A>G" "" "" "" "0000936394" "00025619" "90" "5630" "0" "5630" "0" "c.5630A>G" "" "" "" "0000936405" "00025619" "70" "5615" "0" "5615" "0" "c.5615G>A" "" "" "" "0000936457" "00025619" "90" "4351" "0" "4351" "0" "c.4351G>A" "" "" "" "0000949984" "00025619" "70" "706" "238" "706" "238" "c.706+238G>A" "r.(=)" "p.(=)" "" "0000949985" "00025619" "50" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Gly510Glu)" "" "0000949985" "00025703" "50" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Gly510Glu)" "" "0000949986" "00025619" "50" "3442" "0" "3442" "0" "c.3442G>A" "r.(?)" "p.(Val1148Met)" "" "0000949987" "00025619" "30" "3643" "0" "3643" "0" "c.3643C>T" "r.(?)" "p.(Leu1215=)" "" "0000959724" "00025619" "90" "1219" "0" "1219" "0" "c.1219T>G" "r.(?)" "p.(Leu407Val)" "" "0000959726" "00025619" "70" "800" "0" "800" "0" "c.800T>C" "r.(?)" "p.(Leu267Ser)" "" "0000959733" "00025619" "70" "2642" "0" "2642" "0" "c.2642T>C" "r.(?)" "p.(Val881Ala)" "" "0000966963" "00025619" "30" "3144" "0" "3144" "0" "c.3144C>T" "r.(?)" "p.(=)" "" "0000966963" "00025703" "30" "3144" "0" "3144" "0" "c.3144C>T" "r.(?)" "p.(His1048=)" "" "0000966964" "00025619" "30" "3204" "0" "3204" "0" "c.3204C>T" "r.(?)" "p.(=)" "" "0000966964" "00025703" "30" "3204" "0" "3204" "0" "c.3204C>T" "r.(?)" "p.(Ser1068=)" "" "0000966968" "00025619" "30" "4764" "0" "4764" "0" "c.4764C>T" "r.(?)" "p.(Phe1588=)" "" "0000966970" "00025619" "10" "4779" "0" "4779" "0" "c.4779C>T" "r.(?)" "p.(Val1593=)" "" "0000980348" "00025619" "30" "95" "0" "95" "0" "c.95G>A" "r.(?)" "p.(Ser32Asn)" "" "0000980349" "00025619" "50" "614" "1" "614" "1" "c.614+1G>A" "r.spl?" "p.?" "" "0000980349" "00025703" "50" "614" "1" "614" "1" "c.614+1G>A" "r.spl?" "p.?" "" "0000980350" "00025619" "30" "706" "256" "706" "256" "c.706+256A>T" "r.(=)" "p.(=)" "" "0000980350" "00025703" "30" "706" "9" "706" "9" "c.706+9A>T" "r.(=)" "p.(=)" "" "0000980351" "00025619" "50" "1796" "0" "1796" "0" "c.1796A>T" "r.(?)" "p.(Asp599Val)" "" "0000980351" "00025703" "50" "1796" "0" "1796" "0" "c.1796A>T" "r.(?)" "p.(Asp599Val)" "" "0000980352" "00025619" "50" "3785" "0" "3785" "0" "c.3785A>G" "r.(?)" "p.(Asn1262Ser)" "" "0000980352" "00025703" "50" "3785" "0" "3785" "0" "c.3785A>G" "r.(?)" "p.(Asn1262Ser)" "" "0001000194" "00025619" "50" "619" "0" "619" "0" "c.619A>G" "r.(?)" "p.(Ile207Val)" "" "0001000194" "00025703" "50" "615" "-243" "615" "-243" "c.615-243A>G" "r.(=)" "p.(=)" "" "0001000195" "00025619" "30" "706" "5" "706" "5" "c.706+5G>T" "r.spl?" "p.?" "" "0001000195" "00025703" "30" "615" "-151" "615" "-151" "c.615-151G>T" "r.(=)" "p.(=)" "" "0001000196" "00025619" "50" "2056" "0" "2056" "0" "c.2056G>C" "r.(?)" "p.(Asp686His)" "" "0001000196" "00025703" "50" "2056" "0" "2056" "0" "c.2056G>C" "r.(?)" "p.(Asp686His)" "" "0001000197" "00025619" "30" "3049" "0" "3049" "0" "c.3049G>A" "r.(?)" "p.(Ala1017Thr)" "" "0001000197" "00025703" "30" "3049" "0" "3049" "0" "c.3049G>A" "r.(?)" "p.(Ala1017Thr)" "" "0001000198" "00025619" "50" "3370" "0" "3370" "0" "c.3370G>A" "r.(?)" "p.(Asp1124Asn)" "" "0001000198" "00025703" "50" "3370" "0" "3370" "0" "c.3370G>A" "r.(?)" "p.(Asp1124Asn)" "" "0001000199" "00025619" "50" "3442" "0" "3442" "0" "c.3442G>A" "r.(?)" "p.(Val1148Met)" "" "0001000200" "00025619" "50" "4305" "0" "4305" "0" "c.4305G>C" "r.(?)" "p.(Glu1435Asp)" "" "0001000200" "00025703" "50" "4305" "0" "4305" "0" "c.4305G>C" "r.(?)" "p.(Glu1435Asp)" "" "0001000201" "00025619" "50" "4652" "0" "4652" "0" "c.4652A>T" "r.(?)" "p.(Glu1551Val)" "" "0001000201" "00025703" "50" "4652" "0" "4652" "0" "c.4652A>T" "r.(?)" "p.(Glu1551Val)" "" "0001000202" "00025619" "70" "5054" "0" "5054" "0" "c.5054T>C" "r.(?)" "p.(Met1685Thr)" "" "0001000202" "00025703" "70" "5054" "0" "5054" "0" "c.5054T>C" "r.(?)" "p.(Met1685Thr)" "" "0001000203" "00025619" "50" "5635" "0" "5635" "0" "c.5635T>G" "r.(?)" "p.(Ser1879Ala)" "" "0001000203" "00025703" "50" "5635" "0" "5635" "0" "c.5635T>G" "r.(?)" "p.(Ser1879Ala)" "" "0001000204" "00025619" "30" "5816" "0" "5816" "0" "c.5816C>G" "r.(?)" "p.(Pro1939Arg)" "" "0001000204" "00025703" "30" "5816" "0" "5816" "0" "c.5816C>G" "r.(?)" "p.(Pro1939Arg)" "" "0001007063" "00025703" "70" "5606" "0" "5606" "0" "c.5606T>C" "r.(?)" "p.(Met1869Thr)" "27" "0001007524" "00025619" "90" "5156" "0" "5157" "0" "c.5156_5157del" "r.(?)" "p.(Pro1719ArgfsTer6)" "" "0001011890" "00025619" "90" "4477" "0" "4477" "0" "c.4477A>G" "r.(?)" "p.(Lys1493Glu)" "" "0001014991" "00025619" "30" "3147" "0" "3147" "0" "c.3147C>T" "r.(?)" "p.(=)" "" "0001014991" "00025703" "30" "3147" "0" "3147" "0" "c.3147C>T" "r.(?)" "p.(Thr1049=)" "" "0001014992" "00025619" "30" "5205" "0" "5205" "0" "c.5205T>C" "r.(?)" "p.(=)" "" "0001014992" "00025703" "30" "5205" "0" "5205" "0" "c.5205T>C" "r.(?)" "p.(Asp1735=)" "" "0001016958" "00025619" "70" "1723" "0" "1723" "0" "c.1723C>T" "r.?" "p.?" "12" "0001016958" "00025703" "70" "1723" "0" "1723" "0" "c.1723C>T" "r.?" "p.?" "12" "0001020089" "00025703" "70" "842" "0" "842" "0" "c.842G>A" "r.?" "p.(Cys281Tyr)" "7" "0001026200" "00025619" "50" "1330" "0" "1330" "0" "c.1330G>T" "r.(?)" "p.(Glu444*)" "" "0001026200" "00025703" "50" "1330" "0" "1330" "0" "c.1330G>T" "r.(?)" "p.(Glu444*)" "" "0001026201" "00025619" "30" "1416" "0" "1416" "0" "c.1416C>T" "r.(?)" "p.(=)" "" "0001026201" "00025703" "30" "1416" "0" "1416" "0" "c.1416C>T" "r.(?)" "p.(Gly472=)" "" "0001026202" "00025619" "50" "3268" "0" "3268" "0" "c.3268C>A" "r.(?)" "p.(Pro1090Thr)" "" "0001026202" "00025703" "50" "3268" "0" "3268" "0" "c.3268C>A" "r.(?)" "p.(Pro1090Thr)" "" "0001026203" "00025619" "30" "5847" "0" "5847" "0" "c.5847T>C" "r.(?)" "p.(=)" "" "0001026203" "00025703" "30" "5847" "0" "5847" "0" "c.5847T>C" "r.(?)" "p.(Ser1949=)" "" "0001039318" "00025619" "50" "1651" "0" "1695" "0" "c.1651_1695dup" "r.(?)" "p.(Pro551_Ile565dup)" "" "0001039318" "00025703" "50" "1651" "0" "1695" "0" "c.1651_1695dup" "r.(?)" "p.(Pro551_Ile565dup)" "" "0001039319" "00025619" "30" "2721" "0" "2721" "0" "c.2721G>C" "r.(?)" "p.(Lys907Asn)" "" "0001039319" "00025703" "30" "2721" "0" "2721" "0" "c.2721G>C" "r.(?)" "p.(Lys907Asn)" "" "0001039320" "00025619" "30" "4748" "0" "4748" "0" "c.4748T>C" "r.(?)" "p.(Ile1583Thr)" "" "0001046382" "00025619" "30" "707" "-20" "707" "-20" "c.707-20C>T" "r.(=)" "p.(=)" "" "0001046383" "00025619" "50" "1938" "0" "1938" "0" "c.1938C>A" "r.(?)" "p.(Asn646Lys)" "" "0001046383" "00025703" "50" "1938" "0" "1938" "0" "c.1938C>A" "r.(?)" "p.(Asn646Lys)" "" "0001046384" "00025619" "30" "1965" "0" "1965" "0" "c.1965C>T" "r.(?)" "p.(=)" "" "0001046384" "00025703" "30" "1965" "0" "1965" "0" "c.1965C>T" "r.(?)" "p.(Pro655=)" "" "0001046385" "00025619" "90" "4447" "0" "4447" "0" "c.4447G>A" "r.(?)" "p.(Glu1483Lys)" "" "0001046385" "00025703" "90" "4447" "0" "4447" "0" "c.4447G>A" "r.(?)" "p.(Glu1483Lys)" "" "0001046386" "00025619" "30" "4722" "0" "4722" "0" "c.4722T>C" "r.(?)" "p.(=)" "" "0001046386" "00025703" "30" "4722" "0" "4722" "0" "c.4722T>C" "r.(?)" "p.(Phe1574=)" "" "0001047276" "00025703" "70" "5638" "0" "5638" "0" "c.5638A>G" "r.?" "p.(Lys1880Glu)" "27" "0001047503" "00025703" "50" "914" "0" "914" "0" "c.914A>G" "r.(914A>G)" "p.(Tyr305Cys)" "7" "0001054349" "00025619" "50" "4573" "0" "4573" "0" "c.4573G>A" "r.(?)" "p.(Asp1525Asn)" "" "0001054349" "00025703" "50" "4573" "0" "4573" "0" "c.4573G>A" "r.(?)" "p.(Asp1525Asn)" "" "0001059126" "00025619" "90" "2549" "0" "2549" "0" "c.2549G>A" "r.(?)" "p.(Arg850Gln)" "" "0001059127" "00025619" "90" "4889" "0" "4889" "0" "c.4889T>C" "r.(?)" "p.(Leu1630Pro)" "" "0001059128" "00025619" "90" "5615" "0" "5615" "0" "c.5615G>T" "r.(?)" "p.(Arg1872Leu)" "" "0001059129" "00025619" "90" "2549" "0" "2549" "0" "c.2549G>A" "r.(?)" "p.(Arg850Gln)" "" "0001059130" "00025619" "70" "5614" "0" "5614" "0" "c.5614C>T" "r.(?)" "p.(Arg1872Trp)" "" "0001059131" "00025619" "70" "2642" "0" "2642" "0" "c.2642T>C" "r.(?)" "p.(Val881Ala)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 77 "{{screeningid}}" "{{variantid}}" "0000000019" "0000000291" "0000000019" "0000000292" "0000000019" "0000000293" "0000000019" "0000000296" "0000000029" "0000000294" "0000000029" "0000000295" "0000050438" "0000079418" "0000050585" "0000079565" "0000054819" "0000084835" "0000108375" "0000174301" "0000117307" "0000188453" "0000117310" "0000188155" "0000117332" "0000188177" "0000117355" "0000188200" "0000164649" "0000368220" "0000164696" "0000368258" "0000164697" "0000368259" "0000164698" "0000368260" "0000177905" "0000400781" "0000209966" "0000441099" "0000235506" "0000478744" "0000267471" "0000598530" "0000270693" "0000604480" "0000275834" "0000629933" "0000276729" "0000630863" "0000291908" "0000648597" "0000291909" "0000648598" "0000291910" "0000648599" "0000291911" "0000648600" "0000302393" "0000665627" "0000303807" "0000667202" "0000304267" "0000667695" "0000304285" "0000667713" "0000304286" "0000667714" "0000305497" "0000669185" "0000307140" "0000673705" "0000307140" "0000673712" "0000307264" "0000673856" "0000308907" "0000683341" "0000321347" "0000704176" "0000330311" "0000714881" "0000374954" "0000785868" "0000375379" "0000787442" "0000376000" "0000787604" "0000376025" "0000787607" "0000376036" "0000787387" "0000376037" "0000787388" "0000376038" "0000787389" "0000389079" "0000817872" "0000404152" "0000839770" "0000408932" "0000845947" "0000423659" "0000899405" "0000437867" "0000933296" "0000439786" "0000935915" "0000439800" "0000935929" "0000439891" "0000936020" "0000440053" "0000936371" "0000440089" "0000936247" "0000440094" "0000936394" "0000440104" "0000936405" "0000440162" "0000936457" "0000449506" "0000959724" "0000449508" "0000959726" "0000449515" "0000959733" "0000455078" "0001007063" "0000455417" "0001007524" "0000457387" "0001011890" "0000459177" "0001016958" "0000461035" "0001020089" "0000467874" "0001047276" "0000468041" "0001047503" "0000471004" "0001059126" "0000471005" "0001059127" "0000471006" "0001059128" "0000471007" "0001059129" "0000471008" "0001059130" "0000471009" "0001059131"