### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SCN3A) # 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}}" "SCN3A" "sodium channel, voltage-gated, type III, alpha subunit" "2" "q24" "unknown" "NG_042289.1" "UD_132612527929" "" "https://www.LOVD.nl/SCN3A" "" "1" "10590" "6328" "182391" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/SCN3A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-11-14 21:54:28" "00000" "2026-01-20 18:57:21" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00018519" "SCN3A" "transcript variant 1" "002" "NM_006922.3" "" "NP_008853.3" "" "" "" "-492" "8633" "6003" "166060577" "165944030" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05166" "SUD" "death, sudden, unexplained (SUD)" "" "" "" "" "" "00006" "2016-05-19 16:34:23" "00006" "2018-09-11 12:14:13" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" "05604" "FFEVF4" "epilepsy, familial focal, with variable foci, type 4 (FFEVF-4)" "AD" "617935" "" "autosomal dominant" "" "00006" "2019-05-24 19:48:29" "00006" "2021-12-10 21:51:32" "05605" "EIEE62" "encephalopathy, epileptic, early infantile, type 62 (EIEE-62)" "AD" "617938" "" "autosomal dominant" "" "00006" "2019-05-24 19:49:45" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SCN3A" "05604" "SCN3A" "05605" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{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}}" "00050473" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00180185" "" "" "" "1" "" "00006" "{PMID:Tumienė 2018:29286531}" "" "" "" "(Slovenia)" "" "0" "" "" "" "29286531-Pat37" "00205859" "" "" "" "1" "" "03104" "" "" "" "" "China" "" "0" "" "" "" "" "00205867" "" "" "" "1" "" "03104" "" "" "M" "" "China" "" "0" "" "" "" "patient6" "00292306" "" "" "" "41" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292307" "" "" "" "10" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00301401" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00302669" "" "" "" "1" "" "01164" "" "" "?" "" "Germany" "" "0" "" "" "" "" "00303055" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat100" "00374180" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5239" "00374838" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4029" "00431563" "" "" "" "1" "" "01602" "" "" "M" "" "Switzerland" "63y" "" "" "" "India" "SUDS013" "00438322" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat40" "00438334" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat52" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 14 "{{individualid}}" "{{diseaseid}}" "00050473" "00198" "00180185" "00198" "00205859" "04270" "00205867" "04270" "00292306" "00198" "00292307" "00198" "00301401" "00198" "00302669" "00198" "00303055" "05521" "00374180" "00198" "00374838" "00198" "00431563" "05166" "00438322" "04270" "00438334" "04270" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04270, 05166, 05521, 05604, 05605 ## Count = 12 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000037085" "00198" "00050473" "00006" "Isolated (sporadic)" "" "generalized myoclonic seizures, generalized tonic-clonic seizures, developmental regression, postnatal microcephaly, supernumerary nipples, brachycephaly, small feet, intellectual disability profound" "" "" "" "" "" "" "" "" "" "" "" "0000142639" "00198" "00180185" "00006" "Familial, autosomal dominant" "" "Epilepsy (HP:0001250), focal seizures (HP:0007359), polymicrogyria (HP:0002126), global developmental delay (HP:0001263)." "" "" "" "" "" "" "" "" "" "epilepsy or seizures associated with neurodevelopmental disorders and/or congenital malformations" "" "0000154005" "04270" "00205859" "03104" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154010" "04270" "00205867" "03104" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000228579" "00198" "00301401" "01164" "Unknown" "" "Febrile seizures (HP:0002373); Seizures (HP:0001250)" "" "" "" "" "" "" "" "" "" "" "" "0000229750" "00198" "00302669" "01164" "Unknown" "" "Abnormality of nervous system physiology (HP:0012638); Abnormality of the corpus callosum (HP:0001273); Intracranial cystic lesion (HP:0010576); Abnormality of prenatal development or birth (HP:0001197)" "" "" "" "" "" "" "" "" "" "" "" "0000230138" "05521" "00303055" "00006" "Isolated (sporadic)" "" "Unclassified epilepsy; age onset infantile" "" "" "" "" "" "" "" "" "" "seizures" "" "0000269390" "00198" "00374180" "00006" "Familial, autosomal recessive" "" "Motor delay, hypotonia, recurrent chesty episode, severe motor axonal neuropathy, weakness in left leg, central hypothyroidism and seizures" "" "" "" "" "" "" "" "" "" "epilepsy, neuropathy" "" "0000270048" "00198" "00374838" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000322136" "05166" "00431563" "01602" "Unknown" "" "SUD" "" "" "" "" "" "" "" "" "" "" "" "0000328226" "04270" "00438322" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures" "11y" "" "" "" "" "" "" "" "" "epilepsy" "" "0000328238" "04270" "00438334" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0001263 global developmental delay" "9m" "" "" "" "" "" "" "" "" "epilepsy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050418" "00050473" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000181088" "00180185" "1" "00006" "00006" "2018-08-24 19:40:22" "" "" "SEQ-NG" "DNA" "" "WES" "0000206889" "00205859" "1" "03104" "03104" "2018-11-12 09:58:33" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000206897" "00205867" "1" "03104" "03104" "2018-11-12 12:23:34" "" "" "SEQ;SEQ-NG-I" "DNA" "Peripheral blood" "" "0000293474" "00292306" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293475" "00292307" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000302522" "00301401" "1" "01164" "01164" "2020-05-15 11:28:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000303794" "00302669" "1" "01164" "01164" "2020-05-27 17:17:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000304180" "00303055" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000375374" "00374180" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000376032" "00374838" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000432996" "00431563" "1" "01602" "01602" "2023-02-15 08:58:32" "" "" "SEQ-NG" "DNA" "" "" "0000439804" "00438322" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000439816" "00438334" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000181088" "SCN3A" "0000206897" "SCN3A" "0000304180" "SCN3A" "0000375374" "ADSL" "0000376032" "SCN2A" ## 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 = 439 "{{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}}" "0000079398" "0" "90" "2" "165578421" "167108554" "del" "0" "00006" "COBLL1_000002" "g.165578421_167108554del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000248083" "0" "30" "2" "166183379" "166183379" "subst" "0.00664348" "02325" "SCN2A_000015" "g.166183379A>G" "" "" "" "SCN2A(NM_021007.2):c.2034A>G (p.T678=), SCN2A(NM_021007.3):c.2034A>G (p.T678=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165326869A>G" "" "likely benign" "" "0000250774" "0" "30" "2" "166183379" "166183379" "subst" "0.00664348" "02326" "SCN2A_000015" "g.166183379A>G" "" "" "" "SCN2A(NM_021007.2):c.2034A>G (p.T678=), SCN2A(NM_021007.3):c.2034A>G (p.T678=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165326869A>G" "" "likely benign" "" "0000250999" "0" "10" "2" "166172133" "166172133" "subst" "0" "02326" "SCN2A_000070" "g.166172133A>G" "" "" "" "SCN2A(NM_021007.3):c.1536A>G (p.E512=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165315623A>G" "" "benign" "" "0000251000" "0" "10" "2" "166246289" "166246289" "subst" "0" "02326" "SCN2A_000167" "g.166246289A>G" "" "" "" "SCN2A(NM_021007.3):c.5973A>G (p.S1991=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165389779A>G" "" "benign" "" "0000251110" "0" "10" "2" "166201225" "166201225" "subst" "0.00434083" "02326" "SCN2A_000098" "g.166201225A>G" "" "" "" "SCN2A(NM_001040142.1):c.2723A>G (p.(Lys908Arg)), SCN2A(NM_021007.3):c.2723A>G (p.K908R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165344715A>G" "" "benign" "" "0000251240" "0" "10" "2" "166152222" "166152222" "subst" "0" "02326" "SCN2A_000036" "g.166152222A>G" "" "" "" "SCN2A(NM_021007.3):c.-51-61A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165295712A>G" "" "benign" "" "0000251241" "0" "10" "2" "166153499" "166153499" "subst" "0.805926" "02326" "SCN2A_000042" "g.166153499A>G" "" "" "" "SCN2A(NM_021007.3):c.268-28A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165296989A>G" "" "benign" "" "0000251242" "0" "10" "2" "166164223" "166164223" "del" "0" "02326" "SCN2A_000045" "g.166164223del" "" "" "" "SCN2A(NM_021007.3):c.387-135delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165307713del" "" "benign" "" "0000251243" "0" "10" "2" "166168503" "166168503" "subst" "0.0118319" "02326" "SCN2A_000058" "g.166168503A>G" "" "" "" "SCN2A(NM_021007.3):c.971-32A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165311993A>G" "" "benign" "" "0000251244" "0" "10" "2" "166169967" "166169967" "subst" "0" "02326" "SCN2A_000059" "g.166169967A>G" "" "" "" "SCN2A(NM_021007.3):c.1035-163A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165313457A>G" "" "benign" "" "0000251245" "0" "10" "2" "166183273" "166183273" "subst" "0" "02326" "SCN2A_000077" "g.166183273A>G" "" "" "" "SCN2A(NM_021007.3):c.2017-89A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165326763A>G" "" "benign" "" "0000251246" "0" "10" "2" "166183301" "166183301" "subst" "0" "02326" "SCN2A_000079" "g.166183301A>G" "" "" "" "SCN2A(NM_021007.3):c.2017-61A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165326791A>G" "" "benign" "" "0000251247" "0" "10" "2" "166199086" "166199086" "subst" "0" "02326" "SCN2A_000094" "g.166199086A>G" "" "" "" "SCN2A(NM_021007.3):c.2562+107A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165342576A>G" "" "benign" "" "0000251248" "0" "10" "2" "166221581" "166221581" "subst" "0" "02326" "SCN2A_000110" "g.166221581A>G" "" "" "" "SCN2A(NM_021007.3):c.3400-72A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165365071A>G" "" "benign" "" "0000251249" "0" "10" "2" "166226581" "166226581" "subst" "0" "02326" "SCN2A_000121" "g.166226581A>C" "" "" "" "SCN2A(NM_021007.3):c.3676-55A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165370071A>C" "" "benign" "" "0000251250" "0" "10" "2" "166226581" "166226581" "subst" "0" "02326" "SCN2A_000122" "g.166226581A>G" "" "" "" "SCN2A(NM_021007.3):c.3676-55A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165370071A>G" "" "benign" "" "0000251251" "0" "10" "2" "166226894" "166226894" "del" "0" "02326" "SCN2A_000126" "g.166226894del" "" "" "" "SCN2A(NM_021007.3):c.3849+85delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165370384del" "" "benign" "" "0000251252" "0" "10" "2" "166239057" "166239057" "subst" "0" "02326" "SCN2A_000143" "g.166239057A>C" "" "" "" "SCN2A(NM_021007.3):c.4551+1350A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165382547A>C" "" "benign" "" "0000252033" "0" "30" "2" "166153483" "166153483" "subst" "1.2437E-5" "02326" "SCN2A_000041" "g.166153483A>G" "" "" "" "SCN2A(NM_021007.3):c.268-44A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165296973A>G" "" "likely benign" "" "0000252034" "0" "30" "2" "166170312" "166170312" "subst" "0.00247975" "02326" "SCN2A_000065" "g.166170312A>C" "" "" "" "SCN2A(NM_021007.3):c.1176+41A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165313802A>C" "" "likely benign" "" "0000252035" "0" "30" "2" "166183324" "166183324" "subst" "0.0120598" "02326" "SCN2A_000080" "g.166183324A>G" "" "" "" "SCN2A(NM_021007.3):c.2017-38A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165326814A>G" "" "likely benign" "" "0000252036" "0" "30" "2" "166183327" "166183327" "subst" "0" "02326" "SCN2A_000081" "g.166183327A>C" "" "" "" "SCN2A(NM_021007.3):c.2017-35A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165326817A>C" "" "likely benign" "" "0000252037" "0" "30" "2" "166183502" "166183502" "subst" "0.000243772" "02326" "SCN2A_000083" "g.166183502A>G" "" "" "" "SCN2A(NM_021007.3):c.2149+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165326992A>G" "" "likely benign" "" "0000252038" "0" "30" "2" "166187782" "166187782" "subst" "0" "02326" "SCN2A_000086" "g.166187782A>T" "" "" "" "SCN2A(NM_021007.3):c.2150-58A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165331272A>T" "" "likely benign" "" "0000252039" "0" "30" "2" "166210666" "166210666" "subst" "8.13233E-6" "02326" "SCN2A_000101" "g.166210666A>G" "" "" "" "SCN2A(NM_021007.3):c.2920-36A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165354156A>G" "" "likely benign" "" "0000252040" "0" "30" "2" "166221853" "166221853" "subst" "0" "02326" "SCN2A_000113" "g.166221853A>C" "" "" "" "SCN2A(NM_021007.3):c.3520+80A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165365343A>C" "" "likely benign" "" "0000252041" "0" "30" "2" "166243208" "166243208" "subst" "0.00328523" "02326" "SCN2A_000147" "g.166243208A>T" "" "" "" "SCN2A(NM_021007.3):c.4552-48A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165386698A>T" "" "likely benign" "" "0000252042" "0" "30" "2" "166243242" "166243242" "subst" "3.67963E-5" "02326" "SCN2A_000150" "g.166243242A>G" "" "" "" "SCN2A(NM_021007.3):c.4552-14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165386732A>G" "" "likely benign" "" "0000252043" "0" "30" "2" "166243574" "166243574" "subst" "0.0099581" "02326" "SCN2A_000154" "g.166243574A>G" "" "" "" "SCN2A(NM_021007.3):c.4822+48A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165387064A>G" "" "likely benign" "" "0000252531" "0" "90" "2" "166201224" "166201224" "subst" "0" "02326" "SCN2A_000097" "g.166201224A>G" "" "" "" "SCN2A(NM_021007.3):c.2722A>G (p.K908E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165344714A>G" "" "pathogenic" "" "0000252645" "0" "50" "2" "166226686" "166226686" "subst" "0" "02326" "SCN2A_000125" "g.166226686A>G" "" "" "" "SCN2A(NM_021007.3):c.3726A>G (p.L1242=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165370176A>G" "" "VUS" "" "0000252697" "0" "50" "2" "166172191" "166172191" "subst" "0" "02326" "SCN2A_000071" "g.166172191A>G" "" "" "" "SCN2A(NM_021007.3):c.1594A>G (p.I532V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165315681A>G" "" "VUS" "" "0000252777" "0" "50" "2" "166226669" "166226669" "subst" "0" "02326" "SCN2A_000124" "g.166226669A>G" "" "" "" "SCN2A(NM_021007.3):c.3709A>G (p.T1237A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165370159A>G" "" "VUS" "" "0000252800" "0" "50" "2" "166167111" "166167111" "subst" "4.12137E-6" "02326" "SCN2A_000057" "g.166167111A>T" "" "" "" "SCN2A(NM_021007.3):c.970+6A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165310601A>T" "" "VUS" "" "0000252801" "0" "50" "2" "166183297" "166183297" "subst" "0" "02326" "SCN2A_000078" "g.166183297A>G" "" "" "" "SCN2A(NM_021007.3):c.2017-65A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165326787A>G" "" "VUS" "" "0000252802" "0" "50" "2" "166245080" "166245080" "subst" "0" "02326" "SCN2A_000155" "g.166245080A>G" "" "" "" "SCN2A(NM_021007.3):c.4823-59A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165388570A>G" "" "VUS" "" "0000253993" "0" "30" "2" "166183379" "166183379" "subst" "0.00664348" "01943" "SCN2A_000015" "g.166183379A>G" "" "" "" "SCN2A(NM_021007.2):c.2034A>G (p.T678=), SCN2A(NM_021007.3):c.2034A>G (p.T678=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165326869A>G" "" "likely benign" "" "0000254950" "0" "30" "2" "166172013" "166172013" "subst" "0.000295637" "01943" "SCN2A_000069" "g.166172013A>G" "" "" "" "SCN2A(NM_021007.2):c.1416A>G (p.R472=), SCN2A(NM_021007.3):c.1416A>G (p.R472=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165315503A>G" "" "likely benign" "" "0000255544" "0" "90" "2" "166243346" "166243346" "subst" "0" "01943" "SCN2A_000151" "g.166243346A>G" "" "" "" "SCN2A(NM_021007.2):c.4642A>G (p.M1548V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165386836A>G" "" "pathogenic" "" "0000256275" "0" "50" "2" "165987770" "165987770" "subst" "0" "01943" "SCN3A_000002" "g.165987770A>G" "" "" "" "SCN3A(NM_006922.3):c.2549T>C (p.L850P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165131260A>G" "" "VUS" "" "0000297933" "0" "10" "2" "166170127" "166170127" "subst" "0.802235" "02325" "SCN2A_000063" "g.166170127T>C" "" "" "" "SCN2A(NM_021007.3):c.1035-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165313617T>C" "" "benign" "" "0000297934" "0" "50" "2" "166171996" "166171996" "subst" "0" "02325" "SCN2A_000068" "g.166171996G>T" "" "" "" "SCN2A(NM_021007.3):c.1399G>T (p.A467S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165315486G>T" "" "VUS" "" "0000297935" "0" "10" "2" "166179650" "166179650" "subst" "0.512171" "02325" "SCN2A_000074" "g.166179650C>T" "" "" "" "SCN2A(NM_021007.3):c.1672-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165323140C>T" "" "benign" "" "0000297936" "0" "30" "2" "166179779" "166179779" "subst" "0.00944508" "02325" "SCN2A_000013" "g.166179779T>C" "" "" "" "SCN2A(NM_021007.3):c.1785T>C (p.D595=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165323269T>C" "" "likely benign" "" "0000297937" "0" "90" "2" "166223882" "166223882" "subst" "0" "02325" "SCN2A_000118" "g.166223882G>C" "" "" "" "SCN2A(NM_021007.3):c.3675+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165367372G>C" "" "pathogenic" "" "0000297938" "0" "30" "2" "166229839" "166229839" "subst" "0" "02325" "SCN2A_000127" "g.166229839C>T" "" "" "" "SCN2A(NM_021007.3):c.3954C>T (p.S1318=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165373329C>T" "" "likely benign" "" "0000297939" "0" "70" "2" "166231195" "166231195" "subst" "0" "02325" "SCN2A_000131" "g.166231195G>A" "" "" "" "SCN2A(NM_021007.3):c.3973G>A (p.V1325I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165374685G>A" "" "likely pathogenic" "" "0000297940" "0" "50" "2" "166245205" "166245205" "subst" "0" "02325" "SCN2A_000157" "g.166245205T>C" "" "" "" "SCN2A(NM_021007.3):c.4889T>C (p.L1630P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165388695T>C" "" "VUS" "" "0000297941" "0" "10" "2" "166245642" "166245642" "subst" "0.00130591" "02325" "SCN2A_000160" "g.166245642C>T" "" "" "" "SCN2A(NM_021007.3):c.5326C>T (p.L1776=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165389132C>T" "" "benign" "" "0000297942" "0" "10" "2" "166246235" "166246235" "subst" "0.00230252" "02325" "SCN2A_000166" "g.166246235C>T" "" "" "" "SCN2A(NM_021007.2):c.5919C>T (p.P1973=), SCN2A(NM_021007.3):c.5919C>T (p.P1973=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165389725C>T" "" "benign" "" "0000299353" "0" "50" "2" "166170189" "166170189" "subst" "0" "02329" "SCN2A_000064" "g.166170189C>T" "" "" "" "SCN2A(NM_001040142.1):c.1094C>T (p.(Thr365Met)), SCN2A(NM_021007.3):c.1094C>T (p.T365M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165313679C>T" "" "VUS" "" "0000299354" "0" "90" "2" "166234161" "166234161" "del" "0" "02329" "SCN2A_000137" "g.166234161del" "" "" "" "SCN2A(NM_021007.3):c.4308+1delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165377651del" "" "pathogenic" "" "0000301806" "0" "30" "2" "166152433" "166152433" "subst" "0.000695648" "02326" "SCN2A_000030" "g.166152433G>A" "" "" "" "SCN2A(NM_021007.3):c.100G>A (p.A34T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165295923G>A" "" "likely benign" "" "0000301807" "0" "10" "2" "166170111" "166170111" "subst" "0" "02326" "SCN2A_000062" "g.166170111T>G" "" "" "" "SCN2A(NM_021007.3):c.1035-19T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165313601T>G" "" "benign" "" "0000301808" "0" "50" "2" "166170104" "166170104" "subst" "0" "02326" "SCN2A_000061" "g.166170104C>G" "" "" "" "SCN2A(NM_021007.3):c.1035-26C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165313594C>G" "" "VUS" "" "0000301809" "0" "10" "2" "166170127" "166170127" "subst" "0.802235" "02326" "SCN2A_000063" "g.166170127T>C" "" "" "" "SCN2A(NM_021007.3):c.1035-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165313617T>C" "" "benign" "" "0000301810" "0" "30" "2" "166170075" "166170075" "subst" "0" "02326" "SCN2A_000060" "g.166170075C>A" "" "" "" "SCN2A(NM_021007.3):c.1035-55C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165313565C>A" "" "likely benign" "" "0000301811" "0" "30" "2" "166170504" "166170504" "subst" "0.00165403" "02326" "SCN2A_000067" "g.166170504G>A" "" "" "" "SCN2A(NM_001040142.2):c.1269G>A (p.(Val423=)), SCN2A(NM_021007.3):c.1269G>A (p.V423=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165313994G>A" "" "likely benign" "" "0000301812" "0" "10" "2" "166179650" "166179650" "subst" "0.512171" "02326" "SCN2A_000074" "g.166179650C>T" "" "" "" "SCN2A(NM_021007.3):c.1672-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165323140C>T" "" "benign" "" "0000301813" "0" "10" "2" "166179779" "166179779" "subst" "0.00944508" "02326" "SCN2A_000013" "g.166179779T>C" "" "" "" "SCN2A(NM_021007.3):c.1785T>C (p.D595=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165323269T>C" "" "benign" "" "0000301814" "0" "30" "2" "166180076" "166180076" "del" "0" "02326" "SCN2A_000076" "g.166180076del" "" "" "" "SCN2A(NM_021007.3):c.2016+66delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165323566del" "" "likely benign" "" "0000301815" "0" "30" "2" "166180016" "166180016" "subst" "0" "02326" "SCN2A_000075" "g.166180016G>T" "" "" "" "SCN2A(NM_021007.2):c.2016+6G>T, SCN2A(NM_021007.3):c.2016+6G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165323506G>T" "" "likely benign" "" "0000301816" "0" "90" "2" "166183444" "166183444" "subst" "0" "02326" "SCN2A_000082" "g.166183444C>G" "" "" "" "SCN2A(NM_021007.3):c.2099C>G (p.S700*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165326934C>G" "" "pathogenic" "" "0000301817" "0" "10" "2" "166183676" "166183677" "del" "0" "02326" "SCN2A_000084" "g.166183676_166183677del" "" "" "" "SCN2A(NM_021007.3):c.2149+182_2149+183delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165327166_165327167del" "" "benign" "" "0000301818" "0" "30" "2" "166187773" "166187773" "subst" "0" "02326" "SCN2A_000085" "g.166187773T>C" "" "" "" "SCN2A(NM_021007.3):c.2150-67T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165331263T>C" "" "likely benign" "" "0000301819" "0" "10" "2" "166187943" "166187943" "subst" "0" "02326" "SCN2A_000087" "g.166187943T>C" "" "" "" "SCN2A(NM_021007.3):c.2253T>C (p.L751=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165331433T>C" "" "benign" "" "0000301820" "0" "70" "2" "166188008" "166188008" "subst" "0" "02326" "SCN2A_000089" "g.166188008C>T" "" "" "" "SCN2A(NM_021007.3):c.2318C>T (p.T773I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165331498C>T" "" "likely pathogenic" "" "0000301821" "0" "30" "2" "166188168" "166188168" "subst" "0" "02326" "SCN2A_000090" "g.166188168C>T" "" "" "" "SCN2A(NM_021007.3):c.2388+90C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165331658C>T" "" "likely benign" "" "0000301822" "0" "10" "2" "166201060" "166201060" "subst" "0" "02326" "SCN2A_000095" "g.166201060T>C" "" "" "" "SCN2A(NM_021007.3):c.2563-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165344550T>C" "" "benign" "" "0000301823" "0" "10" "2" "166152651" "166152651" "subst" "0" "02326" "SCN2A_000018" "g.166152651G>A" "" "" "" "SCN2A(NM_021007.3):c.267+51G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165296141G>A" "" "benign" "" "0000301824" "0" "30" "2" "166210609" "166210609" "subst" "0" "02326" "SCN2A_000100" "g.166210609T>A" "" "" "" "SCN2A(NM_021007.3):c.2920-93T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165354099T>A" "" "likely benign" "" "0000301825" "0" "90" "2" "166210789" "166210789" "subst" "0" "02326" "SCN2A_000102" "g.166210789C>A" "" "" "" "SCN2A(NM_021007.3):c.3007C>A (p.L1003I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165354279C>A" "" "pathogenic" "" "0000301826" "0" "30" "2" "166211154" "166211154" "subst" "0.00370168" "02326" "SCN2A_000103" "g.166211154C>T" "" "" "" "SCN2A(NM_001040142.2):c.3372C>T (p.S1124=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165354644C>T" "" "likely benign" "" "0000301827" "0" "10" "2" "166211285" "166211285" "subst" "0" "02326" "SCN2A_000105" "g.166211285G>A" "" "" "" "SCN2A(NM_021007.3):c.3399+104G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165354775G>A" "" "benign" "" "0000301828" "0" "30" "2" "166211259" "166211259" "subst" "0" "02326" "SCN2A_000104" "g.166211259C>T" "" "" "" "SCN2A(NM_021007.3):c.3399+78C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165354749C>T" "" "likely benign" "" "0000301829" "0" "30" "2" "166221579" "166221579" "del" "0" "02326" "SCN2A_000109" "g.166221579del" "" "" "" "SCN2A(NM_021007.3):c.3400-74delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165365069del" "" "likely benign" "" "0000301830" "0" "30" "2" "166221578" "166221579" "del" "0" "02326" "SCN2A_000108" "g.166221578_166221579del" "" "" "" "SCN2A(NM_021007.3):c.3400-75_3400-74delGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165365068_165365069del" "" "likely benign" "" "0000301831" "0" "30" "2" "166221579" "166221579" "dup" "0" "02326" "SCN2A_000106" "g.166221579dup" "" "" "" "SCN2A(NM_021007.3):c.3400-74dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165365069dup" "" "likely benign" "" "0000301833" "0" "30" "2" "166221706" "166221706" "subst" "0.000909792" "02326" "SCN2A_000111" "g.166221706C>T" "" "" "" "SCN2A(NM_021007.2):c.3453C>T (p.P1151=), SCN2A(NM_021007.3):c.3453C>T (p.P1151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165365196C>T" "" "likely benign" "" "0000301834" "0" "50" "2" "166221770" "166221770" "subst" "4.06154E-6" "02326" "SCN2A_000112" "g.166221770G>A" "" "" "" "SCN2A(NM_021007.3):c.3517G>A (p.E1173K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165365260G>A" "" "VUS" "" "0000301835" "0" "10" "2" "166221906" "166221909" "del" "0" "02326" "SCN2A_000114" "g.166221906_166221909del" "" "" "" "SCN2A(NM_021007.3):c.3520+133_3520+136delTCTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165365396_165365399del" "" "benign" "" "0000301837" "0" "30" "2" "166221957" "166221958" "dup" "0" "02326" "SCN2A_000116" "g.166221957_166221958dup" "" "" "" "SCN2A(NM_021007.3):c.3520+185_3520+186dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165365447_165365448dup" "" "likely benign" "" "0000301838" "0" "30" "2" "166224005" "166224005" "subst" "0" "02326" "SCN2A_000119" "g.166224005C>T" "" "" "" "SCN2A(NM_021007.3):c.3675+124C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165367495C>T" "" "likely benign" "" "0000301839" "0" "50" "2" "166226622" "166226622" "subst" "0" "02326" "SCN2A_000123" "g.166226622T>A" "" "" "" "SCN2A(NM_021007.3):c.3676-14T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165370112T>A" "" "VUS" "" "0000301840" "0" "30" "2" "166226554" "166226554" "subst" "0" "02326" "SCN2A_000120" "g.166226554T>C" "" "" "" "SCN2A(NM_021007.3):c.3676-82T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165370044T>C" "" "likely benign" "" "0000301841" "0" "10" "2" "166153662" "166153662" "subst" "0.000440244" "02326" "SCN2A_000043" "g.166153662C>T" "" "" "" "SCN2A(NM_021007.3):c.386+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165297152C>T" "" "benign" "" "0000301842" "0" "50" "2" "166153691" "166153691" "subst" "0" "02326" "SCN2A_000044" "g.166153691C>G" "" "" "" "SCN2A(NM_021007.3):c.386+46C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165297181C>G" "" "VUS" "" "0000301843" "0" "10" "2" "166164348" "166164348" "subst" "0.00721644" "02326" "SCN2A_000048" "g.166164348G>A" "" "" "" "SCN2A(NM_021007.3):c.387-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165307838G>A" "" "benign" "" "0000301844" "0" "30" "2" "166164319" "166164319" "subst" "0" "02326" "SCN2A_000047" "g.166164319T>G" "" "" "" "SCN2A(NM_021007.3):c.387-39T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165307809T>G" "" "likely benign" "" "0000301845" "0" "30" "2" "166164259" "166164259" "subst" "0" "02326" "SCN2A_000046" "g.166164259G>T" "" "" "" "SCN2A(NM_021007.3):c.387-99G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165307749G>T" "" "likely benign" "" "0000301846" "0" "90" "2" "166229841" "166229841" "subst" "0" "02326" "SCN2A_000128" "g.166229841G>A" "" "" "" "SCN2A(NM_001040142.2):c.3956G>A (p.R1319Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165373331G>A" "" "pathogenic" "" "0000301847" "0" "30" "2" "166229912" "166229912" "subst" "0" "02326" "SCN2A_000129" "g.166229912C>T" "" "" "" "SCN2A(NM_021007.3):c.3972+55C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165373402C>T" "" "likely benign" "" "0000301848" "0" "30" "2" "166231103" "166231103" "subst" "0" "02326" "SCN2A_000130" "g.166231103T>A" "" "" "" "SCN2A(NM_021007.3):c.3973-92T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165374593T>A" "" "likely benign" "" "0000301849" "0" "50" "2" "166231490" "166231490" "subst" "4.12579E-6" "02326" "SCN2A_000134" "g.166231490T>C" "" "" "" "SCN2A(NM_021007.3):c.4254+14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165374980T>C" "" "VUS" "" "0000301850" "0" "30" "2" "166234015" "166234015" "subst" "0" "02326" "SCN2A_000135" "g.166234015T>C" "" "" "" "SCN2A(NM_021007.3):c.4255-92T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165377505T>C" "" "likely benign" "" "0000301851" "0" "90" "2" "166234155" "166234155" "subst" "0" "02326" "SCN2A_000136" "g.166234155C>T" "" "" "" "SCN2A(NM_021007.3):c.4303C>T (p.R1435*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165377645C>T" "" "pathogenic" "" "0000301852" "0" "30" "2" "166236985" "166236985" "subst" "0" "02326" "SCN2A_000138" "g.166236985G>A" "" "" "" "SCN2A(NM_021007.3):c.4309-117G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165380475G>A" "" "likely benign" "" "0000301853" "0" "10" "2" "166238945" "166238945" "subst" "0" "02326" "SCN2A_000142" "g.166238945T>C" "" "" "" "SCN2A(NM_021007.3):c.4551+1238T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165382435T>C" "" "benign" "" "0000301854" "0" "30" "2" "166237865" "166237865" "subst" "0" "02326" "SCN2A_000141" "g.166237865T>G" "" "" "" "SCN2A(NM_021007.3):c.4551+158T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165381355T>G" "" "likely benign" "" "0000301855" "0" "10" "2" "166237768" "166237768" "subst" "0" "02326" "SCN2A_000140" "g.166237768G>A" "" "" "" "SCN2A(NM_021007.3):c.4551+61G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165381258G>A" "" "benign" "" "0000301856" "0" "30" "2" "166243124" "166243124" "subst" "0" "02326" "SCN2A_000145" "g.166243124G>A" "" "" "" "SCN2A(NM_021007.3):c.4552-132G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165386614G>A" "" "likely benign" "" "0000301857" "0" "10" "2" "166243123" "166243123" "del" "0" "02326" "SCN2A_000144" "g.166243123del" "" "" "" "SCN2A(NM_021007.3):c.4552-133delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165386613del" "" "benign" "" "0000301858" "0" "10" "2" "166243216" "166243216" "subst" "0" "02326" "SCN2A_000149" "g.166243216T>A" "" "" "" "SCN2A(NM_021007.3):c.4552-40T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165386706T>A" "" "benign" "" "0000301859" "0" "10" "2" "166243215" "166243215" "subst" "0" "02326" "SCN2A_000148" "g.166243215T>A" "" "" "" "SCN2A(NM_021007.3):c.4552-41T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165386705T>A" "" "benign" "" "0000301860" "0" "10" "2" "166243158" "166243158" "subst" "0" "02326" "SCN2A_000146" "g.166243158T>A" "" "" "" "SCN2A(NM_021007.3):c.4552-98T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165386648T>A" "" "benign" "" "0000301861" "0" "10" "2" "166243420" "166243420" "subst" "0" "02326" "SCN2A_000153" "g.166243420T>A" "" "" "" "SCN2A(NM_021007.3):c.4716T>A (p.V1572=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165386910T>A" "" "benign" "" "0000301862" "0" "50" "2" "166245115" "166245115" "subst" "0.000318121" "02326" "SCN2A_000156" "g.166245115T>G" "" "" "" "SCN2A(NM_021007.3):c.4823-24T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165388605T>G" "" "VUS" "" "0000301863" "0" "10" "2" "166245230" "166245230" "subst" "0.284352" "02326" "SCN2A_000006" "g.166245230T>A" "" "" "" "SCN2A(NM_021007.3):c.4914T>A (p.R1638=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165388720T>A" "" "benign" "" "0000301864" "0" "70" "2" "166245498" "166245498" "subst" "0" "02326" "SCN2A_000158" "g.166245498C>T" "" "" "" "SCN2A(NM_021007.3):c.5182C>T (p.P1728S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165388988C>T" "" "likely pathogenic" "" "0000301865" "0" "70" "2" "166245634" "166245634" "subst" "0" "02326" "SCN2A_000159" "g.166245634C>T" "" "" "" "SCN2A(NM_021007.3):c.5318C>T (p.A1773V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165389124C>T" "" "likely pathogenic" "" "0000301866" "0" "30" "2" "166245642" "166245642" "subst" "0.00130591" "02326" "SCN2A_000160" "g.166245642C>T" "" "" "" "SCN2A(NM_021007.3):c.5326C>T (p.L1776=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165389132C>T" "" "likely benign" "" "0000301867" "0" "30" "2" "166245713" "166245713" "subst" "0.000125983" "02326" "SCN2A_000161" "g.166245713T>C" "" "" "" "SCN2A(NM_021007.3):c.5397T>C (p.Y1799=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165389203T>C" "" "likely benign" "" "0000301868" "0" "50" "2" "166245787" "166245787" "subst" "0" "02326" "SCN2A_000162" "g.166245787C>A" "" "" "" "SCN2A(NM_021007.3):c.5471C>A (p.A1824D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165389277C>A" "" "VUS" "" "0000301869" "0" "90" "2" "166165261" "166165261" "subst" "2.03341E-5" "02326" "SCN2A_000049" "g.166165261C>T" "" "" "" "SCN2A(NM_021007.3):c.562C>T (p.R188W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165308751C>T" "" "pathogenic" "" "0000301870" "0" "50" "2" "166245963" "166245963" "subst" "0" "02326" "SCN2A_000163" "g.166245963T>A" "" "" "" "SCN2A(NM_021007.3):c.5647T>A (p.F1883I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165389453T>A" "" "VUS" "" "0000301871" "0" "10" "2" "166152389" "166152389" "subst" "0.0842359" "02326" "SCN2A_000037" "g.166152389G>A" "" "" "" "SCN2A(NM_021007.3):c.56G>A (p.R19K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165295879G>A" "" "benign" "" "0000301872" "0" "30" "2" "166246073" "166246073" "subst" "0.000158966" "02326" "SCN2A_000164" "g.166246073C>T" "" "" "" "SCN2A(NM_021007.3):c.5757C>T (p.Y1919=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165389563C>T" "" "likely benign" "" "0000301873" "0" "10" "2" "166246226" "166246226" "subst" "0.00408866" "02326" "SCN2A_000165" "g.166246226G>A" "" "" "" "SCN2A(NM_021007.2):c.5910G>A (p.T1970=), SCN2A(NM_021007.3):c.5910G>A (p.T1970=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165389716G>A" "" "benign" "" "0000301874" "0" "30" "2" "166246235" "166246235" "subst" "0.00230252" "02326" "SCN2A_000166" "g.166246235C>T" "" "" "" "SCN2A(NM_021007.2):c.5919C>T (p.P1973=), SCN2A(NM_021007.3):c.5919C>T (p.P1973=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165389725C>T" "" "likely benign" "" "0000301875" "0" "90" "2" "166165305" "166165305" "subst" "0" "02326" "SCN2A_000023" "g.166165305G>A" "" "" "" "SCN2A(NM_001040143.2):c.605+1G>A, SCN2A(NM_021007.3):c.605+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165308795G>A" "" "pathogenic" "" "0000301876" "0" "30" "2" "166165361" "166165361" "subst" "0" "02326" "SCN2A_000050" "g.166165361T>A" "" "" "" "SCN2A(NM_021007.3):c.605+57T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165308851T>A" "" "likely benign" "" "0000301877" "0" "70" "2" "166165879" "166165879" "subst" "0" "02326" "SCN2A_000051" "g.166165879T>C" "" "" "" "SCN2A(NM_021007.3):c.623T>C (p.V208A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165309369T>C" "" "likely pathogenic" "" "0000301878" "0" "30" "2" "166166077" "166166077" "subst" "0" "02326" "SCN2A_000053" "g.166166077G>A" "" "" "" "SCN2A(NM_021007.3):c.697+124G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165309567G>A" "" "likely benign" "" "0000301879" "0" "30" "2" "166166017" "166166017" "subst" "0" "02326" "SCN2A_000052" "g.166166017G>A" "" "" "" "SCN2A(NM_021007.3):c.697+64G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165309507G>A" "" "likely benign" "" "0000301880" "0" "90" "2" "166166916" "166166916" "subst" "0" "02326" "SCN2A_000054" "g.166166916G>A" "" "" "" "SCN2A(NM_021007.3):c.781G>A (p.V261M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165310406G>A" "" "pathogenic" "" "0000301881" "0" "90" "2" "166166923" "166166923" "subst" "0" "02326" "SCN2A_000055" "g.166166923C>T" "" "" "" "SCN2A(NM_021007.3):c.788C>T (p.A263V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165310413C>T" "" "pathogenic" "" "0000301882" "0" "90" "2" "166166958" "166166958" "subst" "0" "02326" "SCN2A_000056" "g.166166958C>T" "" "" "" "SCN2A(NM_021007.3):c.823C>T (p.R275*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165310448C>T" "" "pathogenic" "" "0000307742" "0" "50" "2" "166172209" "166172209" "subst" "1.23485E-5" "01943" "SCN2A_000072" "g.166172209C>T" "" "" "" "SCN2A(NM_021007.2):c.1612C>T (p.R538C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165315699C>T" "" "VUS" "" "0000307743" "0" "50" "2" "166172220" "166172220" "subst" "2.0581E-5" "01943" "SCN2A_000073" "g.166172220G>A" "" "" "" "SCN2A(NM_021007.2):c.1623G>A (p.L541=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165315710G>A" "" "VUS" "" "0000307744" "0" "90" "2" "166198954" "166198954" "del" "0" "01943" "SCN2A_000091" "g.166198954del" "" "" "" "SCN2A(NM_021007.2):c.2537delT (p.L846Cfs*22)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165342444del" "" "pathogenic" "" "0000307745" "0" "90" "2" "166198958" "166198962" "del" "0" "01943" "SCN2A_000092" "g.166198958_166198962del" "" "" "" "SCN2A(NM_021007.2):c.2541_2545delAGTTC (p.V848Pfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165342448_165342452del" "" "pathogenic" "" "0000307746" "0" "30" "2" "166223800" "166223800" "subst" "0.000853124" "01943" "SCN2A_000117" "g.166223800G>A" "" "" "" "SCN2A(NM_021007.2):c.3594G>A (p.R1198=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165367290G>A" "" "likely benign" "" "0000307747" "0" "30" "2" "166231356" "166231356" "subst" "2.85372E-5" "01943" "SCN2A_000132" "g.166231356C>T" "" "" "" "SCN2A(NM_021007.2):c.4134C>T (p.S1378=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165374846C>T" "" "likely benign" "" "0000307748" "0" "30" "2" "166246226" "166246226" "subst" "0.00408866" "01943" "SCN2A_000165" "g.166246226G>A" "" "" "" "SCN2A(NM_021007.2):c.5910G>A (p.T1970=), SCN2A(NM_021007.3):c.5910G>A (p.T1970=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165389716G>A" "" "likely benign" "" "0000327414" "0" "30" "2" "166152415" "166152415" "subst" "0.000252248" "01804" "SCN2A_000038" "g.166152415C>T" "" "" "" "SCN2A(NM_001040142.1):c.82C>T (p.R28C, p.(Arg28Cys)), SCN2A(NM_021007.2):c.82C>T (p.R28C), SCN2A(NM_021007.3):c.82C>T (p.R28C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165295905C>T" "" "likely benign" "" "0000327416" "0" "50" "2" "166152448" "166152448" "subst" "0" "01804" "SCN2A_000040" "g.166152448C>T" "" "" "" "SCN2A(NM_021007.2):c.115C>T (p.(Gln39Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165295938C>T" "" "VUS" "" "0000327417" "0" "50" "2" "166170434" "166170434" "subst" "4.06461E-6" "01804" "SCN2A_000066" "g.166170434C>T" "" "" "" "SCN2A(NM_001040142.1):c.1199C>T (p.(Thr400Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165313924C>T" "" "VUS" "" "0000327419" "0" "50" "2" "166198975" "166198975" "subst" "0" "01804" "SCN2A_000093" "g.166198975G>A" "" "" "" "SCN2A(NM_021007.2):c.2558G>A (p.(Arg853Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165342465G>A" "" "VUS" "" "0000327421" "0" "30" "2" "166201225" "166201225" "subst" "0.00434083" "01804" "SCN2A_000098" "g.166201225A>G" "" "" "" "SCN2A(NM_001040142.1):c.2723A>G (p.(Lys908Arg)), SCN2A(NM_021007.3):c.2723A>G (p.K908R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165344715A>G" "" "likely benign" "" "0000327422" "0" "50" "2" "166231443" "166231443" "subst" "0" "01804" "SCN2A_000133" "g.166231443C>A" "" "" "" "SCN2A(NM_001040142.1):c.4221C>A (p.(Asn1407Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165374933C>A" "" "VUS" "" "0000327423" "0" "50" "2" "166237699" "166237699" "subst" "0" "01804" "SCN2A_000139" "g.166237699C>T" "" "" "" "SCN2A(NM_021007.2):c.4543C>T (p.(Arg1515Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165381189C>T" "" "VUS" "" "0000341314" "0" "90" "2" "166166923" "166166923" "subst" "0" "02327" "SCN2A_000055" "g.166166923C>T" "" "" "" "SCN2A(NM_021007.3):c.788C>T (p.A263V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165310413C>T" "" "pathogenic" "" "0000341849" "0" "50" "2" "166229840" "166229840" "subst" "4.06971E-6" "02327" "SCN2A_000177" "g.166229840C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165373330C>T" "" "VUS" "" "0000342034" "0" "90" "2" "166245220" "166245220" "subst" "0" "02327" "SCN2A_000182" "g.166245220G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165388710G>A" "" "pathogenic" "" "0000342545" "0" "10" "2" "166152415" "166152415" "subst" "0.000252248" "02327" "SCN2A_000038" "g.166152415C>T" "" "" "" "SCN2A(NM_001040142.1):c.82C>T (p.R28C, p.(Arg28Cys)), SCN2A(NM_021007.2):c.82C>T (p.R28C), SCN2A(NM_021007.3):c.82C>T (p.R28C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165295905C>T" "" "benign" "" "0000343167" "0" "90" "2" "166179813" "166179813" "subst" "0" "02327" "SCN2A_000173" "g.166179813C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165323303C>T" "" "pathogenic" "" "0000343868" "0" "50" "2" "166210891" "166210891" "subst" "0" "02327" "SCN2A_000174" "g.166210891G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165354381G>A" "" "VUS" "" "0000344570" "0" "90" "2" "166243265" "166243265" "subst" "0" "02327" "SCN2A_000002" "g.166243265C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165386755C>T" "" "pathogenic" "" "0000345083" "0" "90" "2" "166223837" "166223837" "subst" "0" "02327" "SCN2A_000175" "g.166223837G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165367327G>A" "" "pathogenic" "" "0000346587" "0" "70" "2" "166243314" "166243314" "subst" "0" "02327" "SCN2A_000180" "g.166243314T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165386804T>G" "" "likely pathogenic" "" "0000346818" "0" "90" "2" "165986748" "165986748" "subst" "0" "02327" "SCN3A_000001" "g.165986748A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165130238A>G" "" "pathogenic" "" "0000346927" "0" "90" "2" "166245157" "166245157" "subst" "0" "02327" "SCN2A_000181" "g.166245157T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165388647T>G" "" "pathogenic" "" "0000347986" "0" "50" "2" "166165724" "166165724" "subst" "0" "02327" "SCN2A_000168" "g.166165724T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165309214T>A" "" "VUS" "" "0000348730" "0" "50" "2" "166237673" "166237673" "subst" "0" "02327" "SCN2A_000179" "g.166237673C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165381163C>T" "" "VUS" "" "0000348914" "0" "50" "2" "166167016" "166167016" "subst" "0" "02327" "SCN2A_000169" "g.166167016C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165310506C>T" "" "VUS" "" "0000349691" "0" "90" "2" "166231415" "166231415" "subst" "0" "02327" "SCN2A_000178" "g.166231415G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165374905G>A" "" "pathogenic" "" "0000350091" "0" "90" "2" "166170518" "166170518" "subst" "0" "02327" "SCN2A_000171" "g.166170518A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165314008A>G" "" "pathogenic" "" "0000350276" "0" "50" "2" "166231195" "166231195" "subst" "0" "02327" "SCN2A_000131" "g.166231195G>A" "" "" "" "SCN2A(NM_021007.3):c.3973G>A (p.V1325I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165374685G>A" "" "VUS" "" "0000350964" "0" "70" "2" "166168532" "166168532" "subst" "0" "02327" "SCN2A_000170" "g.166168532T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165312022T>G" "" "likely pathogenic" "" "0000404724" "0" "70" "2" "165986748" "165986748" "subst" "0" "00006" "SCN3A_000001" "g.165986748A>G" "" "{PMID:Tumienė 2018:29286531}" "" "" "" "De novo" "" "" "0" "" "" "g.165130238A>G" "" "likely pathogenic" "ACMG" "0000436535" "0" "90" "2" "165986748" "165986748" "subst" "0" "03104" "SCN3A_000001" "g.165986748A>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.165130238A>G" "" "pathogenic" "" "0000436544" "0" "90" "2" "165986748" "165986748" "subst" "0" "03104" "SCN3A_000001" "g.165986748A>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.165130238A>G" "" "pathogenic" "" "0000509801" "0" "50" "2" "165946674" "165946674" "del" "0" "01804" "SCN3A_000003" "g.165946674del" "" "" "" "SCN3A(NM_006922.3):c.5989delG (p.(Glu1997fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165090164del" "" "VUS" "" "0000509803" "0" "50" "2" "165946974" "165946974" "subst" "1.2206E-5" "02327" "SCN3A_000005" "g.165946974G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165090464G>A" "" "VUS" "" "0000509804" "0" "50" "2" "165947159" "165947159" "subst" "4.06279E-6" "02327" "SCN3A_000006" "g.165947159A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165090649A>G" "" "VUS" "" "0000509805" "0" "30" "2" "165947194" "165947194" "subst" "0.000390012" "02327" "SCN3A_000007" "g.165947194A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165090684A>T" "" "likely benign" "" "0000509806" "0" "30" "2" "165996020" "165996020" "subst" "0.00343235" "02327" "SCN2A_000187" "g.165996020C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165139510C>T" "" "likely benign" "" "0000509807" "0" "50" "2" "166021023" "166021023" "subst" "0" "02327" "SCN2A_000188" "g.166021023A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165164513A>G" "" "VUS" "" "0000509809" "0" "50" "2" "166032823" "166032823" "subst" "8.13206E-6" "02327" "SCN2A_000190" "g.166032823G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165176313G>A" "" "VUS" "" "0000509810" "0" "50" "2" "166032873" "166032873" "subst" "0" "02327" "SCN2A_000191" "g.166032873G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165176363G>T" "" "VUS" "" "0000509811" "0" "50" "2" "166152415" "166152415" "subst" "0.000252248" "01943" "SCN2A_000038" "g.166152415C>T" "" "" "" "SCN2A(NM_001040142.1):c.82C>T (p.R28C, p.(Arg28Cys)), SCN2A(NM_021007.2):c.82C>T (p.R28C), SCN2A(NM_021007.3):c.82C>T (p.R28C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165295905C>T" "" "VUS" "" "0000509812" "0" "50" "2" "166152415" "166152415" "subst" "0.000252248" "02325" "SCN2A_000038" "g.166152415C>T" "" "" "" "SCN2A(NM_001040142.1):c.82C>T (p.R28C, p.(Arg28Cys)), SCN2A(NM_021007.2):c.82C>T (p.R28C), SCN2A(NM_021007.3):c.82C>T (p.R28C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165295905C>T" "" "VUS" "" "0000509813" "0" "30" "2" "166152415" "166152415" "subst" "0.000252248" "02326" "SCN2A_000038" "g.166152415C>T" "" "" "" "SCN2A(NM_001040142.1):c.82C>T (p.R28C, p.(Arg28Cys)), SCN2A(NM_021007.2):c.82C>T (p.R28C), SCN2A(NM_021007.3):c.82C>T (p.R28C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165295905C>T" "" "likely benign" "" "0000509814" "0" "30" "2" "166153475" "166153475" "subst" "0" "02326" "SCN2A_000192" "g.166153475T>C" "" "" "" "SCN2A(NM_021007.3):c.268-52T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165296965T>C" "" "likely benign" "" "0000509815" "0" "30" "2" "166153529" "166153529" "subst" "2.50296E-5" "01804" "SCN2A_000193" "g.166153529G>A" "" "" "" "SCN2A(NM_001040142.1):c.270G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165297019G>A" "" "likely benign" "" "0000509816" "0" "90" "2" "166153563" "166153563" "subst" "0" "02327" "SCN2A_000021" "g.166153563C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165297053C>T" "" "pathogenic" "" "0000509817" "0" "50" "2" "166164326" "166164326" "subst" "2.03376E-5" "02326" "SCN2A_000194" "g.166164326A>G" "" "" "" "SCN2A(NM_021007.3):c.387-32A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165307816A>G" "" "VUS" "" "0000509818" "0" "30" "2" "166164385" "166164385" "subst" "2.43871E-5" "01943" "SCN2A_000195" "g.166164385G>A" "" "" "" "SCN2A(NM_021007.2):c.414G>A (p.T138=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165307875G>A" "" "likely benign" "" "0000509819" "0" "70" "2" "166164386" "166164386" "subst" "0" "02327" "SCN2A_000196" "g.166164386A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165307876A>G" "" "likely pathogenic" "" "0000509820" "0" "50" "2" "166165187" "166165187" "subst" "0" "02326" "SCN2A_000197" "g.166165187C>G" "" "" "" "SCN2A(NM_021007.3):c.488C>G (p.T163R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165308677C>G" "" "VUS" "" "0000509821" "0" "90" "2" "166165879" "166165879" "subst" "0" "02327" "SCN2A_000198" "g.166165879T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165309369T>G" "" "pathogenic" "" "0000509822" "0" "10" "2" "166166056" "166166056" "subst" "0" "02326" "SCN2A_000199" "g.166166056T>C" "" "" "" "SCN2A(NM_021007.3):c.697+103T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165309546T>C" "" "benign" "" "0000509823" "0" "90" "2" "166166916" "166166916" "subst" "0" "02327" "SCN2A_000054" "g.166166916G>A" "" "" "" "SCN2A(NM_021007.3):c.781G>A (p.V261M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165310406G>A" "" "pathogenic" "" "0000509825" "0" "70" "2" "166170189" "166170189" "subst" "0" "02327" "SCN2A_000064" "g.166170189C>T" "" "" "" "SCN2A(NM_001040142.1):c.1094C>T (p.(Thr365Met)), SCN2A(NM_021007.3):c.1094C>T (p.T365M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165313679C>T" "" "likely pathogenic" "" "0000509826" "0" "70" "2" "166170419" "166170419" "subst" "0" "01804" "SCN2A_000201" "g.166170419G>A" "" "" "" "SCN2A(NM_001040142.2):c.1184G>A (p.(Arg395His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165313909G>A" "" "likely pathogenic" "" "0000509827" "0" "50" "2" "166171996" "166171996" "subst" "0" "02327" "SCN2A_000068" "g.166171996G>T" "" "" "" "SCN2A(NM_021007.3):c.1399G>T (p.A467S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165315486G>T" "" "VUS" "" "0000509828" "0" "50" "2" "166172087" "166172087" "subst" "1.64547E-5" "02327" "SCN2A_000001" "g.166172087G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165315577G>A" "" "VUS" "" "0000509829" "0" "30" "2" "166179836" "166179836" "subst" "0.0020939" "02326" "SCN2A_000202" "g.166179836G>T" "" "" "" "SCN2A(NM_021007.3):c.1842G>T (p.P614=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165323326G>T" "" "likely benign" "" "0000509830" "0" "30" "2" "166179953" "166179953" "subst" "0.00380682" "02326" "SCN2A_000203" "g.166179953G>A" "" "" "" "SCN2A(NM_001040142.2):c.1959G>A (p.V653=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165323443G>A" "" "likely benign" "" "0000509831" "0" "30" "2" "166183327" "166183327" "subst" "0" "02326" "SCN2A_000204" "g.166183327A>T" "" "" "" "SCN2A(NM_021007.3):c.2017-35A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165326817A>T" "" "likely benign" "" "0000509832" "0" "30" "2" "166183388" "166183388" "subst" "8.12605E-6" "01943" "SCN2A_000205" "g.166183388A>G" "" "" "" "SCN2A(NM_021007.2):c.2043A>G (p.R681=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165326878A>G" "" "likely benign" "" "0000509833" "0" "30" "2" "166183395" "166183395" "subst" "0.000178804" "02326" "SCN2A_000206" "g.166183395C>T" "" "" "" "SCN2A(NM_021007.3):c.2050C>T (p.R684W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165326885C>T" "" "likely benign" "" "0000509834" "0" "30" "2" "166183677" "166183677" "del" "0" "02326" "SCN2A_000207" "g.166183677del" "" "" "" "SCN2A(NM_021007.3):c.2149+183delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165327167del" "" "likely benign" "" "0000509835" "0" "30" "2" "166187895" "166187895" "subst" "0" "01804" "SCN2A_000208" "g.166187895G>A" "" "" "" "SCN2A(NM_001040142.1):c.2205G>A (p.(Met735Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165331385G>A" "" "likely benign" "" "0000509836" "0" "30" "2" "166198758" "166198758" "subst" "0.00196705" "02326" "SCN2A_000016" "g.166198758G>A" "" "" "" "SCN2A(NM_021007.3):c.2389-48G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165342248G>A" "" "likely benign" "" "0000509837" "0" "70" "2" "166198965" "166198965" "subst" "0" "02327" "SCN2A_000209" "g.166198965C>T" "" "" "" "SCN2A(NM_001040142.1):c.2548C>T (p.(Arg850*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165342455C>T" "" "likely pathogenic" "" "0000509838" "0" "90" "2" "166201144" "166201144" "subst" "0" "02327" "SCN2A_000096" "g.166201144T>C" "" "" "" "SCN2A(NM_021007.3):c.2642T>C (p.L881P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165344634T>C" "" "pathogenic" "" "0000509839" "0" "70" "2" "166201144" "166201144" "subst" "0" "02326" "SCN2A_000096" "g.166201144T>C" "" "" "" "SCN2A(NM_021007.3):c.2642T>C (p.L881P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165344634T>C" "" "likely pathogenic" "" "0000509840" "0" "10" "2" "166201225" "166201225" "subst" "0.00434083" "02325" "SCN2A_000098" "g.166201225A>G" "" "" "" "SCN2A(NM_001040142.1):c.2723A>G (p.(Lys908Arg)), SCN2A(NM_021007.3):c.2723A>G (p.K908R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165344715A>G" "" "benign" "" "0000509842" "0" "30" "2" "166210905" "166210905" "subst" "9.76523E-5" "02326" "SCN2A_000211" "g.166210905G>A" "" "" "" "SCN2A(NM_021007.3):c.3123G>A (p.P1041=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165354395G>A" "" "likely benign" "" "0000509843" "0" "30" "2" "166210992" "166210992" "subst" "9.34344E-5" "02326" "SCN2A_000212" "g.166210992C>T" "" "" "" "SCN2A(NM_021007.3):c.3210C>T (p.D1070=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165354482C>T" "" "likely benign" "" "0000509844" "0" "30" "2" "166221706" "166221706" "subst" "0.000909792" "01943" "SCN2A_000111" "g.166221706C>T" "" "" "" "SCN2A(NM_021007.2):c.3453C>T (p.P1151=), SCN2A(NM_021007.3):c.3453C>T (p.P1151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165365196C>T" "" "likely benign" "" "0000509845" "0" "10" "2" "166221958" "166221958" "dup" "0" "02326" "SCN2A_000213" "g.166221958dup" "" "" "" "SCN2A(NM_021007.3):c.3520+185dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165365448dup" "" "benign" "" "0000509847" "0" "30" "2" "166223785" "166223785" "subst" "0.000146227" "02326" "SCN2A_000215" "g.166223785C>A" "" "" "" "SCN2A(NM_021007.3):c.3579C>A (p.L1193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165367275C>A" "" "likely benign" "" "0000509849" "0" "10" "2" "166223900" "166223900" "subst" "0.00351912" "02326" "SCN2A_000217" "g.166223900A>G" "" "" "" "SCN2A(NM_021007.3):c.3675+19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165367390A>G" "" "benign" "" "0000509851" "0" "30" "2" "166226827" "166226827" "subst" "4.06792E-6" "02326" "SCN2A_000219" "g.166226827T>C" "" "" "" "SCN2A(NM_021007.3):c.3849+18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165370317T>C" "" "likely benign" "" "0000509852" "0" "90" "2" "166229841" "166229841" "subst" "0" "02327" "SCN2A_000220" "g.166229841G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165373331G>T" "" "pathogenic" "" "0000509854" "0" "50" "2" "166231260" "166231260" "subst" "0" "02329" "SCN2A_000222" "g.166231260C>G" "" "" "" "SCN2A(NM_021007.3):c.4038C>G (p.I1346M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165374750C>G" "" "VUS" "" "0000509855" "0" "50" "2" "166231368" "166231368" "subst" "0" "01943" "SCN2A_000223" "g.166231368C>G" "" "" "" "SCN2A(NM_021007.2):c.4146C>G (p.N1382K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165374858C>G" "" "VUS" "" "0000509856" "0" "10" "2" "166234076" "166234076" "subst" "0.256148" "02326" "SCN2A_000224" "g.166234076A>G" "" "" "" "SCN2A(NM_021007.3):c.4255-31A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165377566A>G" "" "benign" "" "0000509857" "0" "30" "2" "166234081" "166234081" "del" "0" "02326" "SCN2A_000225" "g.166234081del" "" "" "" "SCN2A(NM_021007.3):c.4255-26delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165377571del" "" "likely benign" "" "0000509859" "0" "30" "2" "166237695" "166237695" "subst" "0.000426548" "01943" "SCN2A_000227" "g.166237695A>T" "" "" "" "SCN2A(NM_021007.2):c.4539A>T (p.I1513=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165381185A>T" "" "likely benign" "" "0000509860" "0" "30" "2" "166238957" "166238957" "subst" "0" "02326" "SCN2A_000228" "g.166238957G>A" "" "" "" "SCN2A(NM_021007.3):c.4551+1250G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165382447G>A" "" "likely benign" "" "0000509861" "0" "30" "2" "166243167" "166243167" "subst" "0" "02326" "SCN2A_000229" "g.166243167C>T" "" "" "" "SCN2A(NM_021007.3):c.4552-89C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165386657C>T" "" "likely benign" "" "0000509863" "0" "30" "2" "166245784" "166245784" "subst" "0.00026828" "01943" "SCN2A_000231" "g.166245784A>C" "" "" "" "SCN2A(NM_021007.2):c.5468A>C (p.D1823A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165389274A>C" "" "likely benign" "" "0000509864" "0" "90" "2" "166245960" "166245960" "subst" "0" "02329" "SCN2A_000232" "g.166245960C>G" "" "" "" "SCN2A(NM_021007.3):c.5644C>G (p.R1882G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165389450C>G" "" "pathogenic" "" "0000509865" "0" "10" "2" "166246235" "166246235" "subst" "0.00230252" "01943" "SCN2A_000166" "g.166246235C>T" "" "" "" "SCN2A(NM_021007.2):c.5919C>T (p.P1973=), SCN2A(NM_021007.3):c.5919C>T (p.P1973=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165389725C>T" "" "benign" "" "0000509866" "0" "30" "2" "166246271" "166246271" "subst" "5.3112E-5" "01943" "SCN2A_000233" "g.166246271A>G" "" "" "" "SCN2A(NM_021007.2):c.5955A>G (p.K1985=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165389761A>G" "" "likely benign" "" "0000606187" "0" "30" "2" "165947005" "165947005" "subst" "0.000833896" "02327" "SCN3A_000008" "g.165947005G>A" "" "" "" "SCN3A(NM_006922.4):c.5658C>T (p.V1886=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165090495G>A" "" "likely benign" "" "0000606188" "0" "50" "2" "165947135" "165947135" "subst" "0" "02327" "SCN3A_000009" "g.165947135C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165090625C>G" "" "VUS" "" "0000606189" "0" "30" "2" "165947269" "165947269" "subst" "3.65551E-5" "02327" "SCN3A_000010" "g.165947269T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165090759T>C" "" "likely benign" "" "0000606190" "0" "50" "2" "165947399" "165947399" "subst" "1.62521E-5" "02327" "SCN3A_000012" "g.165947399A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165090889A>G" "" "VUS" "" "0000606191" "0" "10" "2" "165948757" "165948757" "subst" "0.00331826" "02327" "SCN3A_000013" "g.165948757T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165092247T>C" "" "benign" "" "0000606192" "0" "50" "2" "165948810" "165948810" "subst" "1.62558E-5" "02327" "SCN3A_000014" "g.165948810T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165092300T>C" "" "VUS" "" "0000606193" "0" "30" "2" "165948891" "165948891" "subst" "0" "02327" "SCN3A_000015" "g.165948891C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165092381C>A" "" "likely benign" "" "0000606194" "0" "30" "2" "165952063" "165952063" "subst" "0.000382089" "02327" "SCN3A_000016" "g.165952063G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165095553G>A" "" "likely benign" "" "0000606195" "0" "30" "2" "165969566" "165969566" "subst" "4.51553E-5" "02327" "SCN3A_000017" "g.165969566G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165113056G>A" "" "likely benign" "" "0000606196" "0" "50" "2" "165970406" "165970406" "subst" "2.84467E-5" "02327" "SCN3A_000018" "g.165970406T>C" "" "" "" "SCN3A(NM_006922.4):c.3589A>G (p.(Lys1197Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165113896T>C" "" "VUS" "" "0000606197" "0" "10" "2" "165984284" "165984284" "subst" "0.00506519" "02327" "SCN2A_000236" "g.165984284C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165127774C>T" "" "benign" "" "0000606198" "0" "30" "2" "165984303" "165984303" "subst" "1.62468E-5" "02327" "SCN2A_000237" "g.165984303T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165127793T>G" "" "likely benign" "" "0000606199" "0" "30" "2" "165984424" "165984424" "subst" "5.68967E-5" "02327" "SCN2A_000238" "g.165984424A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165127914A>G" "" "likely benign" "" "0000606200" "0" "50" "2" "165997235" "165997235" "subst" "0" "02327" "SCN2A_000239" "g.165997235C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165140725C>A" "" "VUS" "" "0000606201" "0" "50" "2" "165997340" "165997340" "subst" "0" "02327" "SCN2A_000240" "g.165997340G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165140830G>A" "" "VUS" "" "0000606202" "0" "30" "2" "165997430" "165997430" "subst" "0" "02327" "SCN2A_000241" "g.165997430C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165140920C>A" "" "likely benign" "" "0000606203" "0" "30" "2" "166003301" "166003301" "subst" "0.00155196" "02327" "SCN2A_000242" "g.166003301G>A" "" "" "" "SCN3A(NM_006922.3):c.1619C>T (p.S540F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165146791G>A" "" "likely benign" "" "0000606204" "0" "30" "2" "166003520" "166003520" "subst" "8.5615E-5" "02327" "SCN2A_000243" "g.166003520G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165147010G>A" "" "likely benign" "" "0000606205" "0" "50" "2" "166020953" "166020953" "subst" "2.84555E-5" "02327" "SCN2A_000244" "g.166020953G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165164443G>A" "" "VUS" "" "0000606206" "0" "30" "2" "166025290" "166025290" "subst" "0.000117974" "02327" "SCN2A_000245" "g.166025290T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165168780T>A" "" "likely benign" "" "0000606207" "0" "10" "2" "166032734" "166032734" "subst" "0.000739212" "02327" "SCN2A_000246" "g.166032734A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165176224A>G" "" "benign" "" "0000606208" "0" "50" "2" "166170445" "166170445" "subst" "0" "02325" "SCN2A_000247" "g.166170445T>C" "" "" "" "SCN2A(NM_021007.3):c.1210T>C (p.F404L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165313935T>C" "" "VUS" "" "0000606209" "0" "70" "2" "166179741" "166179741" "subst" "0" "02327" "SCN2A_000248" "g.166179741C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165323231C>T" "" "likely pathogenic" "" "0000606210" "0" "90" "2" "166245192" "166245192" "subst" "0" "02327" "SCN2A_000249" "g.166245192C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165388682C>T" "" "pathogenic" "" "0000606211" "0" "90" "2" "166245633" "166245633" "subst" "0" "01943" "SCN2A_000250" "g.166245633G>A" "" "" "" "SCN2A(NM_021007.2):c.5317G>A (p.A1773T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165389123G>A" "" "pathogenic" "" "0000606212" "0" "50" "2" "166246021" "166246021" "subst" "4.48189E-5" "02325" "SCN2A_000251" "g.166246021G>A" "" "" "" "SCN2A(NM_021007.3):c.5705G>A (p.R1902H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165389511G>A" "" "VUS" "" "0000620760" "0" "50" "2" "165947361" "165947361" "subst" "4.06246E-6" "01943" "SCN3A_000011" "g.165947361C>T" "" "" "" "SCN3A(NM_006922.3):c.5302G>A (p.A1768T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165090851C>T" "" "VUS" "" "0000650163" "1" "10" "2" "165947079" "165947079" "subst" "0.0214547" "03575" "SCN3A_000019" "g.165947079C>A" "41/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "41 heterozygous, no homozygous; {DB:CLININrs41265137}" "Germline" "" "rs41265137" "0" "" "" "g.165090569C>A" "" "benign" "" "0000650164" "1" "30" "2" "166003301" "166003301" "subst" "0.00155196" "03575" "SCN2A_000242" "g.166003301G>A" "10/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "10 heterozygous, no homozygous; {DB:CLININrs147678484}" "Germline" "" "rs147678484" "0" "" "" "g.165146791G>A" "" "likely benign" "" "0000654237" "0" "50" "2" "165947635" "165947635" "subst" "0" "02327" "SCN3A_000020" "g.165947635G>T" "" "" "" "SCN3A(NM_006922.4):c.5028C>A (p.(Asn1676Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165091125G>T" "" "VUS" "" "0000654238" "0" "30" "2" "165994464" "165994464" "subst" "0" "02327" "SCN2A_000257" "g.165994464T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165137954T>C" "" "likely benign" "" "0000654239" "0" "50" "2" "166018813" "166018813" "subst" "0" "02327" "SCN2A_000258" "g.166018813C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165162303C>T" "" "VUS" "" "0000654240" "0" "70" "2" "166168533" "166168533" "subst" "0" "02327" "SCN2A_000259" "g.166168533A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165312023A>G" "" "likely pathogenic" "" "0000654241" "0" "30" "2" "166172013" "166172013" "subst" "0.000295637" "02326" "SCN2A_000069" "g.166172013A>G" "" "" "" "SCN2A(NM_021007.2):c.1416A>G (p.R472=), SCN2A(NM_021007.3):c.1416A>G (p.R472=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165315503A>G" "" "likely benign" "" "0000654242" "0" "50" "2" "166245211" "166245211" "subst" "0" "02329" "SCN2A_000260" "g.166245211G>A" "" "" "" "SCN2A(NM_001040143.2):c.4895G>A (p.R1632K), SCN2A(NM_021007.3):c.4895G>A (p.R1632K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165388701G>A" "" "VUS" "" "0000665812" "0" "50" "2" "166027028" "166027028" "subst" "2.856E-5" "01164" "SCN3A_000021" "g.166027028T>C" "" "" "" "" "ACMG grading: PM2,PP3" "Germline" "" "rs200538599" "0" "" "" "g.165170518T>C" "" "VUS" "ACMG" "0000667189" "0" "50" "2" "165987881" "165987881" "subst" "0" "01164" "SCN3A_000022" "g.165987881G>A" "" "" "" "" "ACMG grading: PM2,PP3\r\nprenatal screening," "Germline" "" "" "0" "" "" "g.165131371G>A" "" "VUS" "ACMG" "0000667578" "0" "90" "2" "166011024" "166011024" "subst" "0" "00006" "SCN3A_000023" "g.166011024G>A" "" "{PMID:Helbig 2016:26795593}" "" "" "" "De novo" "" "" "0" "" "" "g.165154514G>A" "" "pathogenic (dominant)" "ACMG" "0000676068" "0" "30" "2" "165946774" "165946774" "subst" "0.000342104" "02327" "SCN3A_000024" "g.165946774A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676069" "0" "50" "2" "165953826" "165953826" "subst" "2.84437E-5" "02327" "SCN3A_000025" "g.165953826C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676070" "0" "30" "2" "165972030" "165972030" "subst" "4.87611E-5" "02327" "SCN3A_000026" "g.165972030C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676071" "0" "30" "2" "165994637" "165994637" "subst" "8.1475E-5" "01943" "SCN2A_000272" "g.165994637C>A" "" "" "" "SCN3A(NM_006922.3):c.2153-10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676072" "0" "30" "2" "166164403" "166164403" "subst" "1.21923E-5" "02326" "SCN2A_000273" "g.166164403A>G" "" "" "" "SCN2A(NM_021007.3):c.432A>G (p.V144=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676073" "0" "70" "2" "166243313" "166243313" "subst" "0" "02327" "SCN2A_000274" "g.166243313A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000688364" "0" "30" "2" "165947443" "165947443" "subst" "0.000284398" "02327" "SCN3A_000027" "g.165947443G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688365" "0" "30" "2" "165986770" "165986770" "subst" "0.00028431" "02327" "SCN2A_000276" "g.165986770G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688366" "0" "30" "2" "166003301" "166003301" "subst" "0.00155196" "01943" "SCN2A_000242" "g.166003301G>A" "" "" "" "SCN3A(NM_006922.3):c.1619C>T (p.S540F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688367" "0" "30" "2" "166012341" "166012341" "subst" "0" "02327" "SCN2A_000277" "g.166012341G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688368" "0" "50" "2" "166020158" "166020158" "subst" "0" "02325" "SCN2A_000278" "g.166020158G>A" "" "" "" "SCN3A(NM_006922.4):c.664C>T (p.R222*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688369" "0" "90" "2" "166226663" "166226663" "subst" "0" "02325" "SCN2A_000279" "g.166226663C>T" "" "" "" "SCN2A(NM_021007.3):c.3703C>T (p.R1235*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000688370" "0" "90" "2" "166243481" "166243481" "subst" "0" "02327" "SCN2A_000280" "g.166243481G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000688371" "0" "70" "2" "166245952" "166245952" "subst" "0" "02325" "SCN2A_000281" "g.166245952T>C" "" "" "" "SCN2A(NM_021007.3):c.5636T>C (p.M1879T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000717927" "0" "30" "2" "165946681" "165946681" "subst" "4.68217E-6" "02327" "SCN3A_000028" "g.165946681C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717928" "0" "10" "2" "165947542" "165947542" "subst" "0.00627493" "02327" "SCN3A_000029" "g.165947542G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000717929" "0" "50" "2" "165948961" "165948961" "subst" "0" "02327" "SCN3A_000030" "g.165948961C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717930" "0" "50" "2" "166019242" "166019242" "subst" "4.06144E-6" "02327" "SCN2A_000283" "g.166019242A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717931" "0" "50" "2" "166167069" "166167069" "subst" "0" "02329" "SCN2A_000200" "g.166167069A>G" "" "" "" "SCN2A(NM_021007.3):c.934A>G (p.S312G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717932" "0" "70" "2" "166201266" "166201266" "subst" "0" "02329" "SCN2A_000210" "g.166201266C>T" "" "" "" "SCN2A(NM_021007.3):c.2764C>T (p.R922C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000717933" "0" "70" "2" "166201327" "166201327" "subst" "0" "02329" "SCN2A_000099" "g.166201327A>T" "" "" "" "SCN2A(NM_001040142.2):c.2825A>T (p.E942V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000717934" "0" "90" "2" "166234153" "166234153" "subst" "0" "01943" "SCN2A_000284" "g.166234153C>G" "" "" "" "SCN2A(NM_021007.2):c.4301C>G (p.S1434*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000717935" "0" "90" "2" "166237229" "166237229" "subst" "0" "02329" "SCN2A_000226" "g.166237229A>C" "" "" "" "SCN2A(NM_021007.3):c.4436A>C (p.Q1479P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000717936" "0" "30" "2" "166243269" "166243269" "subst" "0.000839617" "01943" "SCN2A_000005" "g.166243269G>C" "" "" "" "SCN2A(NM_021007.2):c.4565G>C (p.G1522A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717937" "0" "90" "2" "166243436" "166243436" "subst" "0" "02327" "SCN2A_000285" "g.166243436T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000717938" "0" "70" "2" "166243470" "166243470" "subst" "0" "02329" "SCN2A_000230" "g.166243470A>G" "" "" "" "SCN2A(NM_021007.3):c.4766A>G (p.Y1589C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000717939" "0" "70" "2" "166245801" "166245801" "subst" "0" "02329" "SCN2A_000261" "g.166245801C>T" "" "" "" "SCN2A(NM_001040143.2):c.5485C>T (p.L1829F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000787439" "0" "50" "2" "165971985" "165971985" "subst" "1.21887E-5" "00000" "SCN3A_000031" "g.165971985G>T" "" "0" "" "" "" "Germline" "" "rs563038965" "0" "" "" "g.165115475G>T" "" "VUS" "" "0000787609" "0" "50" "2" "165997214" "165997214" "subst" "8.12764E-6" "00000" "SCN3A_000032" "g.165997214A>C" "" "0" "" "" "" "Germline" "" "rs764003738" "0" "" "" "g.165140704A>C" "" "VUS" "" "0000799752" "0" "30" "2" "165946711" "165946711" "subst" "0.000327169" "01943" "SCN3A_000033" "g.165946711G>A" "" "" "" "SCN3A(NM_006922.3):c.5952C>T (p.D1984=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799753" "0" "50" "2" "165970376" "165970376" "subst" "0" "02327" "SCN3A_000034" "g.165970376A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799754" "0" "50" "2" "165994438" "165994438" "subst" "0" "02327" "SCN2A_000293" "g.165994438T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799755" "0" "30" "2" "166012281" "166012281" "subst" "0" "02327" "SCN2A_000294" "g.166012281A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799756" "0" "50" "2" "166167058" "166167058" "subst" "2.44228E-5" "01943" "SCN2A_000295" "g.166167058A>G" "" "" "" "SCN2A(NM_021007.2):c.923A>G (p.N308S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799757" "0" "70" "2" "166170255" "166170255" "subst" "0" "02325" "SCN2A_000296" "g.166170255A>G" "" "" "" "SCN2A(NM_021007.3):c.1160A>G (p.E387G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000799758" "0" "30" "2" "166180016" "166180016" "subst" "0" "01943" "SCN2A_000075" "g.166180016G>T" "" "" "" "SCN2A(NM_021007.2):c.2016+6G>T, SCN2A(NM_021007.3):c.2016+6G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799759" "0" "30" "2" "166187982" "166187982" "subst" "5.68953E-5" "01943" "SCN2A_000297" "g.166187982C>T" "" "" "" "SCN2A(NM_021007.2):c.2292C>T (p.A764=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799760" "0" "30" "2" "166210995" "166210995" "subst" "0.000446831" "01943" "SCN2A_000298" "g.166210995A>C" "" "" "" "SCN2A(NM_021007.2):c.3213A>C (p.G1071=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849002" "0" "30" "2" "165946925" "165946925" "subst" "0" "02327" "SCN3A_000036" "g.165946925C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849003" "0" "10" "2" "165947005" "165947005" "subst" "0.000833896" "02326" "SCN3A_000008" "g.165947005G>A" "" "" "" "SCN3A(NM_006922.4):c.5658C>T (p.V1886=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000849004" "0" "10" "2" "165950944" "165950944" "subst" "0.00383975" "02327" "SCN3A_000038" "g.165950944A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000849005" "0" "30" "2" "165956845" "165956845" "subst" "0.000158476" "02327" "SCN3A_000039" "g.165956845A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849006" "0" "50" "2" "165984439" "165984439" "subst" "2.03249E-5" "01943" "SCN2A_000299" "g.165984439C>G" "" "" "" "SCN3A(NM_006922.3):c.3095G>C (p.R1032T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849007" "0" "30" "2" "165986732" "165986732" "subst" "0" "02327" "SCN2A_000300" "g.165986732C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849008" "0" "30" "2" "166003543" "166003543" "subst" "0.0001262" "02327" "SCN2A_000303" "g.166003543T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849009" "0" "30" "2" "166011006" "166011006" "subst" "0" "02327" "SCN2A_000304" "g.166011006G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849010" "0" "30" "2" "166019184" "166019184" "subst" "3.24921E-5" "02327" "SCN2A_000305" "g.166019184G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849011" "0" "30" "2" "166020150" "166020150" "subst" "0" "02327" "SCN2A_000306" "g.166020150C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849012" "0" "30" "2" "166020189" "166020189" "subst" "1.21854E-5" "02327" "SCN2A_000307" "g.166020189A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849013" "0" "90" "2" "166166916" "166166916" "subst" "0" "02325" "SCN2A_000054" "g.166166916G>A" "" "" "" "SCN2A(NM_021007.3):c.781G>A (p.V261M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000849014" "0" "50" "2" "166170207" "166170207" "subst" "0" "02329" "SCN2A_000311" "g.166170207G>A" "" "" "" "SCN2A(NM_001040143.2):c.1112G>A (p.S371N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849015" "0" "50" "2" "166223796" "166223796" "subst" "4.0618E-6" "01943" "SCN2A_000313" "g.166223796T>C" "" "" "" "SCN2A(NM_001040142.1):c.3590T>C (p.(Leu1197Ser)), SCN2A(NM_021007.2):c.3590T>C (p.L1197S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849016" "0" "90" "2" "166226663" "166226663" "subst" "0" "02327" "SCN2A_000279" "g.166226663C>T" "" "" "" "SCN2A(NM_021007.3):c.3703C>T (p.R1235*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000857806" "0" "30" "2" "165946807" "165946807" "subst" "0" "02327" "SCN3A_000035" "g.165946807G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857807" "0" "50" "2" "165947240" "165947240" "subst" "0" "02329" "SCN3A_000037" "g.165947240A>G" "" "" "" "SCN3A(NM_006922.4):c.5423T>C (p.I1808T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857808" "0" "30" "2" "166003488" "166003488" "subst" "4.06689E-6" "02327" "SCN2A_000301" "g.166003488A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857809" "0" "30" "2" "166003501" "166003501" "subst" "0" "02327" "SCN2A_000302" "g.166003501A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857810" "0" "50" "2" "166032639" "166032639" "subst" "0" "01804" "SCN2A_000308" "g.166032639A>C" "" "" "" "SCN3A(NM_001081676.1):c.264+2T>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857811" "0" "70" "2" "166167081" "166167082" "del" "0" "01804" "SCN2A_000309" "g.166167081_166167082del" "" "" "" "SCN2A(NM_021007.2):c.946_947del (p.(Trp316Glyfs*2))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000857812" "0" "50" "2" "166170174" "166170174" "subst" "0" "02325" "SCN2A_000310" "g.166170174C>T" "" "" "" "SCN2A(NM_021007.3):c.1079C>T (p.P360L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857813" "0" "50" "2" "166188010" "166188010" "subst" "8.13233E-6" "02325" "SCN2A_000312" "g.166188010C>G" "" "" "" "SCN2A(NM_021007.3):c.2320C>G (p.L774V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883826" "0" "30" "2" "165946723" "165946723" "subst" "0" "02327" "SCN3A_000040" "g.165946723C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883827" "0" "50" "2" "165947051" "165947051" "subst" "0" "02327" "SCN3A_000041" "g.165947051C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883828" "0" "30" "2" "165947350" "165947350" "subst" "4.06217E-6" "02327" "SCN3A_000042" "g.165947350C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883829" "0" "30" "2" "165947362" "165947362" "subst" "9.34374E-5" "02327" "SCN3A_000043" "g.165947362G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883831" "0" "30" "2" "165953789" "165953789" "subst" "5.68902E-5" "02327" "SCN3A_000045" "g.165953789G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883832" "0" "50" "2" "165953815" "165953815" "subst" "3.65666E-5" "02326" "SCN3A_000046" "g.165953815C>T" "" "" "" "SCN3A(NM_006922.4):c.4186G>A (p.V1396M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883833" "0" "30" "2" "165953816" "165953816" "subst" "0.000174712" "02327" "SCN3A_000047" "g.165953816G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883834" "0" "50" "2" "165969402" "165969402" "subst" "0" "02327" "SCN3A_000048" "g.165969402A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883835" "0" "30" "2" "166003397" "166003397" "subst" "0.000121885" "02327" "SCN2A_000316" "g.166003397T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883836" "0" "50" "2" "166012305" "166012305" "subst" "0" "02325" "SCN2A_000317" "g.166012305C>T" "" "" "" "SCN3A(NM_006922.4):c.1140G>A (p.M380I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883838" "0" "50" "2" "166152446" "166152446" "subst" "0" "02325" "SCN2A_000319" "g.166152446A>C" "" "" "" "SCN2A(NM_021007.3):c.113A>C (p.K38T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883839" "0" "90" "2" "166165305" "166165305" "subst" "0" "02329" "SCN2A_000023" "g.166165305G>A" "" "" "" "SCN2A(NM_001040143.2):c.605+1G>A, SCN2A(NM_021007.3):c.605+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000883840" "0" "70" "2" "166166869" "166166869" "subst" "0" "02327" "SCN2A_000320" "g.166166869T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000883841" "0" "90" "2" "166170526" "166170526" "subst" "0" "02327" "SCN2A_000321" "g.166170526C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000883842" "0" "50" "2" "166183391" "166183391" "subst" "1.21897E-5" "02325" "SCN2A_000322" "g.166183391G>T" "" "" "" "SCN2A(NM_001040142.1):c.2046G>T (p.(Lys682Asn)), SCN2A(NM_021007.3):c.2046G>T (p.K682N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883844" "0" "90" "2" "166234155" "166234155" "subst" "0" "02325" "SCN2A_000136" "g.166234155C>T" "" "" "" "SCN2A(NM_021007.3):c.4303C>T (p.R1435*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000911218" "0" "50" "2" "165970370" "165970370" "subst" "0" "02325" "SCN3A_000049" "g.165970370C>G" "" "" "" "SCN3A(NM_006922.4):c.3625G>C (p.E1209Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911219" "0" "30" "2" "165986612" "165986612" "subst" "2.43669E-5" "02327" "SCN2A_000327" "g.165986612C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911220" "0" "30" "2" "165994476" "165994476" "subst" "0.000817253" "02327" "SCN2A_000328" "g.165994476A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000918621" "0" "90" "2" "166003341" "166003341" "subst" "2.84384E-5" "01602" "SCN3A_000050" "g.166003341C>T" "" "" "" "" "" "Unknown" "" "rs749133387" "" "" "" "" "" "pathogenic" "ACMG" "0000923323" "0" "30" "2" "165997188" "165997188" "subst" "4.06342E-5" "02327" "SCN2A_000329" "g.165997188C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923324" "0" "30" "2" "166003543" "166003543" "subst" "1.22129E-5" "02327" "SCN2A_000330" "g.166003543T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923325" "0" "30" "2" "166018850" "166018850" "subst" "0.000134108" "02327" "SCN2A_000331" "g.166018850G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923326" "0" "50" "2" "166025323" "166025323" "subst" "0" "02327" "SCN2A_000332" "g.166025323C>T" "" "" "" "SCN3A(NM_006922.3):c.396G>A (p.(Met132Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923327" "0" "70" "2" "166170231" "166170231" "subst" "0" "02327" "SCN2A_000333" "g.166170231G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000923328" "0" "50" "2" "166229813" "166229813" "subst" "0" "02327" "SCN2A_000334" "g.166229813G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923329" "0" "70" "2" "166243335" "166243335" "subst" "0" "02327" "SCN2A_000335" "g.166243335A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000928292" "0" "50" "2" "165947078" "165947078" "subst" "0" "02327" "SCN3A_000051" "g.165947078C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928293" "0" "50" "2" "165947498" "165947498" "subst" "4.06309E-6" "02327" "SCN3A_000052" "g.165947498G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928294" "0" "50" "2" "165948811" "165948811" "subst" "1.62553E-5" "02325" "SCN3A_000053" "g.165948811A>G" "" "" "" "SCN3A(NM_006922.4):c.4760T>C (p.I1587T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928296" "0" "90" "2" "166245960" "166245960" "subst" "0" "02327" "SCN2A_000232" "g.166245960C>G" "" "" "" "SCN2A(NM_021007.3):c.5644C>G (p.R1882G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000935933" "0" "90" "2" "165970419" "165970419" "subst" "0" "00006" "SCN3A_000054" "g.165970419C>T" "" "{PMID:Chuan 2022:35571021}" "" "" "ACMG PVS1,PM2,PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.165113909C>T" "" "pathogenic (dominant)" "ACMG" "0000935945" "0" "50" "2" "166012267" "166012267" "subst" "0" "00006" "SCN3A_000055" "g.166012267C>T" "" "{PMID:Chuan 2022:35571021}" "" "" "ACMG PM2,PP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.165155757C>T" "" "VUS" "ACMG" "0000947377" "0" "10" "2" "165946804" "165946804" "subst" "0.00515586" "02327" "SCN3A_000056" "g.165946804G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000947378" "0" "50" "2" "165947244" "165947244" "subst" "0" "02327" "SCN3A_000057" "g.165947244A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947379" "0" "10" "2" "165947785" "165947785" "subst" "0.00360638" "02327" "SCN3A_000058" "g.165947785G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000947380" "0" "70" "2" "165947801" "165947801" "subst" "4.06121E-6" "02325" "SCN3A_000059" "g.165947801C>T" "" "" "" "SCN3A(NM_006922.4):c.4862G>A (p.R1621Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000947381" "0" "50" "2" "165986509" "165986509" "subst" "0" "02325" "SCN2A_000345" "g.165986509C>A" "" "" "" "SCN3A(NM_006922.4):c.2863G>T (p.A955S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947382" "0" "50" "2" "166003415" "166003415" "subst" "1.62682E-5" "02325" "SCN2A_000346" "g.166003415C>T" "" "" "" "SCN3A(NM_006922.4):c.1505G>A (p.R502Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947383" "0" "30" "2" "166032837" "166032837" "subst" "0.000117915" "02325" "SCN2A_000347" "g.166032837G>A" "" "" "" "SCN3A(NM_006922.4):c.68C>T (p.A23V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947384" "0" "50" "2" "166179766" "166179766" "subst" "0" "02325" "SCN2A_000348" "g.166179766A>T" "" "" "" "SCN2A(NM_021007.3):c.1772A>T (p.N591I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947385" "0" "50" "2" "166231298" "166231298" "subst" "0" "02325" "SCN2A_000349" "g.166231298T>C" "" "" "" "SCN2A(NM_021007.3):c.4076T>C (p.F1359S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000961386" "0" "30" "2" "165971984" "165971984" "subst" "6.90731E-5" "02326" "SCN3A_000060" "g.165971984C>T" "" "" "" "SCN3A(NM_006922.4):c.3495G>A (p.P1165=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961387" "0" "50" "2" "165997294" "165997294" "subst" "0" "02327" "SCN2A_000351" "g.165997294C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000961389" "0" "30" "2" "166032837" "166032837" "subst" "0.000117915" "02327" "SCN2A_000347" "g.166032837G>A" "" "" "" "SCN3A(NM_006922.4):c.68C>T (p.A23V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961390" "0" "50" "2" "166170246" "166170246" "subst" "0" "02329" "SCN2A_000352" "g.166170246A>G" "" "" "" "SCN2A(NM_021007.3):c.1151A>G (p.D384G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000961391" "0" "90" "2" "166211059" "166211060" "del" "0" "02327" "SCN2A_000353" "g.166211059_166211060del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000961392" "0" "90" "2" "166245633" "166245633" "subst" "0" "02327" "SCN2A_000250" "g.166245633G>A" "" "" "" "SCN2A(NM_021007.2):c.5317G>A (p.A1773T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000974400" "0" "50" "2" "165947025" "165947025" "subst" "0" "02327" "SCN3A_000061" "g.165947025C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974401" "0" "30" "2" "165947180" "165947180" "subst" "1.21877E-5" "01804" "SCN3A_000062" "g.165947180T>C" "" "" "" "SCN3A(NM_006922.4):c.5483A>G (p.(Lys1828Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974402" "0" "50" "2" "165947635" "165947635" "subst" "0" "01804" "SCN3A_000020" "g.165947635G>T" "" "" "" "SCN3A(NM_006922.4):c.5028C>A (p.(Asn1676Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974403" "0" "50" "2" "165986491" "165986491" "subst" "4.06062E-6" "01804" "SCN2A_000354" "g.165986491G>A" "" "" "" "SCN3A(NM_006922.4):c.2881C>T (p.(Leu961Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974404" "0" "30" "2" "165994386" "165994386" "subst" "1.628E-5" "01804" "SCN2A_000355" "g.165994386T>C" "" "" "" "SCN3A(NM_006922.4):c.2391+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974405" "0" "30" "2" "165997172" "165997172" "subst" "0.000178799" "01804" "SCN2A_000356" "g.165997172G>A" "" "" "" "SCN3A(NM_006922.4):c.2008C>T (p.(Leu670Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974406" "0" "30" "2" "166142450" "166142450" "subst" "0" "01804" "SCN2A_000357" "g.166142450G>A" "" "" "" "SCN2A(NM_001040142.2):c.-51-9833G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974407" "0" "90" "2" "166165924" "166165924" "subst" "0" "02327" "SCN2A_000358" "g.166165924G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000974408" "0" "30" "2" "166170504" "166170504" "subst" "0.00165403" "01804" "SCN2A_000067" "g.166170504G>A" "" "" "" "SCN2A(NM_001040142.2):c.1269G>A (p.(Val423=)), SCN2A(NM_021007.3):c.1269G>A (p.V423=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974409" "0" "30" "2" "166179970" "166179970" "subst" "0.000156372" "01804" "SCN2A_000359" "g.166179970G>A" "" "" "" "SCN2A(NM_001040142.2):c.1976G>A (p.(Gly659Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974410" "0" "30" "2" "166183689" "166183689" "subst" "0" "01804" "SCN2A_000360" "g.166183689C>A" "" "" "" "SCN2A(NM_001040142.2):c.2149+195C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974411" "0" "30" "2" "166198806" "166198806" "subst" "4.06395E-5" "01804" "SCN2A_000361" "g.166198806G>A" "" "" "" "SCN2A(NM_001040142.2):c.2389G>A (p.(Val797Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991732" "0" "30" "2" "165947123" "165947123" "subst" "0" "01804" "SCN3A_000063" "g.165947123A>G" "" "" "" "SCN3A(NM_006922.3):c.5540T>C (p.(Ile1847Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991733" "0" "30" "2" "165947256" "165947256" "subst" "0.00132825" "02327" "SCN3A_000064" "g.165947256C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991734" "0" "50" "2" "165947726" "165947727" "del" "0" "01804" "SCN3A_000065" "g.165947726_165947727del" "" "" "" "SCN3A(NM_006922.3):c.4937_4938delTT (p.(Phe1646fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991735" "0" "50" "2" "165948842" "165948842" "subst" "0" "02327" "SCN3A_000066" "g.165948842G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991736" "0" "30" "2" "165952098" "165952098" "subst" "0" "01804" "SCN3A_000067" "g.165952098T>C" "" "" "" "SCN3A(NM_006922.3):c.4354A>G (p.(Ile1452Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991737" "0" "30" "2" "165953878" "165953878" "subst" "1.21866E-5" "01804" "SCN3A_000068" "g.165953878T>C" "" "" "" "SCN3A(NM_006922.3):c.4123A>G (p.(Ile1375Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991738" "0" "50" "2" "165953887" "165953887" "subst" "2.4374E-5" "01804" "SCN3A_000069" "g.165953887T>C" "" "" "" "SCN3A(NM_006922.3):c.4114A>G (p.(Met1372Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991739" "0" "30" "2" "165986510" "165986510" "subst" "2.84243E-5" "02327" "SCN2A_000363" "g.165986510G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991740" "0" "50" "2" "165986592" "165986592" "subst" "1.2185E-5" "02325" "SCN2A_000364" "g.165986592T>C" "" "" "" "SCN3A(NM_006922.4):c.2780A>G (p.N927S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991741" "0" "50" "2" "165994511" "165994511" "subst" "0" "01804" "SCN2A_000365" "g.165994511C>A" "" "" "" "SCN3A(NM_006922.3):c.2269G>T (p.(Val757Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991742" "0" "50" "2" "165997210" "165997210" "subst" "0" "01804" "SCN2A_000366" "g.165997210A>G" "" "" "" "SCN3A(NM_006922.3):c.1970T>C (p.(Val657Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991743" "0" "50" "2" "165997318" "165997318" "subst" "0" "01804" "SCN2A_000367" "g.165997318C>G" "" "" "" "SCN3A(NM_006922.3):c.1862G>C (p.(Arg621Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991744" "0" "50" "2" "166003527" "166003527" "subst" "0" "01804" "SCN2A_000368" "g.166003527C>T" "" "" "" "SCN3A(NM_006922.3):c.1393G>A (p.(Ala465Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991745" "0" "50" "2" "166011000" "166011000" "subst" "0" "01804" "SCN2A_000369" "g.166011000T>C" "" "" "" "SCN3A(NM_006922.3):c.1342A>G (p.(Met448Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991746" "0" "50" "2" "166011014" "166011014" "subst" "0" "01804" "SCN2A_000370" "g.166011014G>A" "" "" "" "SCN3A(NM_006922.3):c.1328C>T (p.(Ala443Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991747" "0" "50" "2" "166020125" "166020125" "subst" "2.43893E-5" "01804" "SCN2A_000371" "g.166020125C>A" "" "" "" "SCN3A(NM_006922.3):c.694+3G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991748" "0" "50" "2" "166020945" "166020945" "subst" "8.13015E-6" "01804" "SCN2A_000372" "g.166020945G>A" "" "" "" "SCN3A(NM_006922.3):c.559C>T (p.(Arg187Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991749" "0" "50" "2" "166025323" "166025323" "subst" "0" "01804" "SCN2A_000332" "g.166025323C>T" "" "" "" "SCN3A(NM_006922.3):c.396G>A (p.(Met132Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991750" "0" "30" "2" "166027028" "166027028" "subst" "2.856E-5" "01804" "SCN3A_000021" "g.166027028T>C" "" "" "" "SCN3A(NM_006922.3):c.295A>G (p.(Ile99Val)), SCN3A(NM_006922.4):c.295A>G (p.I99V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991751" "0" "70" "2" "166170189" "166170189" "subst" "0" "01804" "SCN2A_000064" "g.166170189C>T" "" "" "" "SCN2A(NM_001040142.1):c.1094C>T (p.(Thr365Met)), SCN2A(NM_021007.3):c.1094C>T (p.T365M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000991752" "0" "90" "2" "166170242" "166170242" "subst" "0" "02329" "SCN2A_000373" "g.166170242C>G" "" "" "" "SCN2A(NM_001040143.2):c.1147C>G (p.Q383E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000991753" "0" "50" "2" "166171993" "166171998" "dup" "0" "02325" "SCN2A_000374" "g.166171993_166171998dup" "" "" "" "SCN2A(NM_021007.3):c.1396_1401dupGCCGCA (p.A466_A467dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991754" "0" "50" "2" "166179718" "166179718" "subst" "0" "01804" "SCN2A_000375" "g.166179718C>T" "" "" "" "SCN2A(NM_001040142.1):c.1724C>T (p.(Ala575Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991755" "0" "50" "2" "166183391" "166183391" "subst" "1.21897E-5" "01804" "SCN2A_000322" "g.166183391G>T" "" "" "" "SCN2A(NM_001040142.1):c.2046G>T (p.(Lys682Asn)), SCN2A(NM_021007.3):c.2046G>T (p.K682N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991756" "0" "70" "2" "166198965" "166198965" "subst" "0" "01804" "SCN2A_000209" "g.166198965C>T" "" "" "" "SCN2A(NM_001040142.1):c.2548C>T (p.(Arg850*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000991757" "0" "30" "2" "166221738" "166221738" "subst" "3.65509E-5" "01804" "SCN2A_000376" "g.166221738A>T" "" "" "" "SCN2A(NM_001040142.1):c.3485A>T (p.(Glu1162Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991758" "0" "50" "2" "166221759" "166221759" "subst" "0" "01804" "SCN2A_000377" "g.166221759C>G" "" "" "" "SCN2A(NM_001040142.1):c.3506C>G (p.(Ala1169Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991759" "0" "30" "2" "166223796" "166223796" "subst" "4.0618E-6" "01804" "SCN2A_000313" "g.166223796T>C" "" "" "" "SCN2A(NM_001040142.1):c.3590T>C (p.(Leu1197Ser)), SCN2A(NM_021007.2):c.3590T>C (p.L1197S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991760" "0" "90" "2" "166226714" "166226714" "subst" "4.06464E-6" "01804" "SCN2A_000176" "g.166226714A>G" "" "" "" "SCN2A(NM_001040142.1):c.3754A>G (p.(Ile1252Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000991761" "0" "70" "2" "166245183" "166245183" "subst" "0" "02327" "SCN2A_000378" "g.166245183A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001013396" "0" "50" "2" "165947144" "165947144" "subst" "0" "02325" "SCN3A_000070" "g.165947144G>A" "" "" "" "SCN3A(NM_006922.4):c.5519C>T (p.P1840L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013397" "0" "30" "2" "165997177" "165997177" "subst" "0.000284451" "02327" "SCN2A_000381" "g.165997177C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013398" "0" "30" "2" "166020181" "166020181" "subst" "6.09271E-5" "02326" "SCN2A_000382" "g.166020181G>A" "" "" "" "SCN3A(NM_006922.4):c.641C>T (p.A214V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024246" "0" "50" "2" "166027028" "166027028" "subst" "2.856E-5" "02325" "SCN3A_000021" "g.166027028T>C" "" "" "" "SCN3A(NM_006922.3):c.295A>G (p.(Ile99Val)), SCN3A(NM_006922.4):c.295A>G (p.I99V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024247" "0" "30" "2" "166032773" "166032773" "subst" "2.0492E-5" "02327" "SCN2A_000385" "g.166032773A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024248" "0" "30" "2" "166183395" "166183395" "subst" "0.000178804" "02325" "SCN2A_000206" "g.166183395C>T" "" "" "" "SCN2A(NM_021007.3):c.2050C>T (p.R684W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024249" "0" "90" "2" "166187982" "166187982" "del" "0" "02325" "SCN2A_000386" "g.166187982del" "" "" "" "SCN2A(NM_021007.3):c.2292delC (p.I765Sfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001032459" "0" "30" "2" "165970406" "165970406" "subst" "2.84467E-5" "01804" "SCN3A_000018" "g.165970406T>C" "" "" "" "SCN3A(NM_006922.4):c.3589A>G (p.(Lys1197Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032460" "0" "50" "2" "165986711" "165986711" "subst" "0" "01804" "SCN2A_000387" "g.165986711C>G" "" "" "" "SCN3A(NM_006922.4):c.2661G>C (p.(Leu887Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032461" "0" "30" "2" "166019105" "166019105" "subst" "2.84289E-5" "01804" "SCN2A_000388" "g.166019105T>A" "" "" "" "SCN3A(NM_006922.4):c.928A>T (p.(Met310Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032462" "0" "50" "2" "166027028" "166027028" "subst" "2.856E-5" "02327" "SCN3A_000021" "g.166027028T>C" "" "" "" "SCN3A(NM_006922.3):c.295A>G (p.(Ile99Val)), SCN3A(NM_006922.4):c.295A>G (p.I99V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032463" "0" "50" "2" "166032862" "166032862" "subst" "4.0657E-6" "01804" "SCN2A_000389" "g.166032862G>A" "" "" "" "SCN3A(NM_006922.4):c.43C>T (p.(Arg15Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032464" "0" "50" "2" "166152341" "166152341" "subst" "0" "01804" "SCN2A_000390" "g.166152341A>G" "" "" "" "SCN2A(NM_001040142.2):c.8A>G (p.(Gln3Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032465" "0" "50" "2" "166165225" "166165225" "subst" "4.06613E-6" "01804" "SCN2A_000391" "g.166165225G>T" "" "" "" "SCN2A(NM_001040142.2):c.526G>T (p.(Ala176Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032466" "0" "50" "2" "166223736" "166223736" "subst" "8.12949E-6" "01804" "SCN2A_000392" "g.166223736G>A" "" "" "" "SCN2A(NM_001040142.2):c.3530G>A (p.(Arg1177Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032467" "0" "30" "2" "166242957" "166242957" "subst" "0" "01804" "SCN2A_000393" "g.166242957G>A" "" "" "" "SCN2A(NM_001040142.2):c.4552-299G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032468" "0" "50" "2" "166245494" "166245494" "subst" "0" "01804" "SCN2A_000394" "g.166245494T>G" "" "" "" "SCN2A(NM_001040142.2):c.5178T>G (p.(Ser1726Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032469" "0" "90" "2" "166245942" "166245942" "subst" "0" "01804" "SCN2A_000395" "g.166245942C>T" "" "" "" "SCN2A(NM_001040142.2):c.5626C>T (p.(Arg1876*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001050848" "0" "50" "2" "165947596" "165947596" "subst" "0" "01804" "SCN3A_000071" "g.165947596C>A" "" "" "" "SCN3A(NM_006922.4):c.5067G>T (p.(Met1689Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050849" "0" "70" "2" "165947657" "165947657" "subst" "0" "01804" "SCN3A_000072" "g.165947657T>C" "" "" "" "SCN3A(NM_006922.4):c.5006A>G (p.(Tyr1669Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001050850" "0" "50" "2" "165948982" "165948982" "subst" "0" "01804" "SCN3A_000073" "g.165948982A>G" "" "" "" "SCN3A(NM_006922.4):c.4589T>C (p.(Ile1530Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050851" "0" "50" "2" "165997448" "165997448" "subst" "1.22103E-5" "01804" "SCN2A_000399" "g.165997448A>G" "" "" "" "SCN3A(NM_006922.4):c.1732T>C (p.(Phe578Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050852" "0" "30" "2" "165997493" "165997493" "subst" "0.000200248" "01804" "SCN2A_000400" "g.165997493G>A" "" "" "" "SCN3A(NM_006922.4):c.1687C>T (p.(Arg563Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001050853" "0" "50" "2" "166003328" "166003328" "subst" "0" "01804" "SCN2A_000401" "g.166003328C>G" "" "" "" "SCN3A(NM_006922.4):c.1592G>C (p.(Ser531Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050854" "0" "30" "2" "166019183" "166019183" "subst" "5.27996E-5" "01804" "SCN2A_000402" "g.166019183C>T" "" "" "" "SCN3A(NM_006922.4):c.850G>A (p.(Asp284Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001050855" "0" "50" "2" "166152494" "166152494" "subst" "4.06336E-6" "01804" "SCN2A_000403" "g.166152494G>A" "" "" "" "SCN2A(NM_001040142.2):c.161G>A (p.(Ser54Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050856" "0" "50" "2" "166172195" "166172195" "subst" "0" "01804" "SCN2A_000404" "g.166172195G>A" "" "" "" "SCN2A(NM_001040142.2):c.1598G>A (p.(Arg533Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001063552" "0" "50" "2" "166003246" "166003246" "subst" "0" "02325" "SCN2A_000411" "g.166003246T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001063553" "0" "70" "2" "166019323" "166019323" "subst" "0" "01804" "SCN2A_000412" "g.166019323A>T" "" "" "" "SCN3A(NM_006922.4):c.710T>A (p.(Val237Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001063554" "0" "70" "2" "166170418" "166170418" "subst" "0" "01804" "SCN2A_000413" "g.166170418C>T" "" "" "" "SCN2A(NM_001040142.2):c.1183C>T (p.(Arg395Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001063555" "0" "50" "2" "166237130" "166237130" "subst" "0" "01804" "SCN2A_000414" "g.166237130A>G" "" "" "" "SCN2A(NM_001040142.2):c.4337A>G (p.(Asn1446Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes SCN3A ## Count = 439 "{{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}}" "0000079398" "00018519" "00" "-1048469" "0" "374242" "0" "c.-1048469_*368239del" "r.0?" "p.0?" "" "0000248083" "00018519" "30" "-123294" "0" "-123294" "0" "c.-123294T>C" "r.(?)" "p.(=)" "" "0000250774" "00018519" "30" "-123294" "0" "-123294" "0" "c.-123294T>C" "r.(?)" "p.(=)" "" "0000250999" "00018519" "10" "-112048" "0" "-112048" "0" "c.-112048T>C" "r.(?)" "p.(=)" "" "0000251000" "00018519" "10" "-186204" "0" "-186204" "0" "c.-186204T>C" "r.(?)" "p.(=)" "" "0000251110" "00018519" "10" "-141140" "0" "-141140" "0" "c.-141140T>C" "r.(?)" "p.(=)" "" "0000251240" "00018519" "10" "-92137" "0" "-92137" "0" "c.-92137T>C" "r.(?)" "p.(=)" "" "0000251241" "00018519" "10" "-93414" "0" "-93414" "0" "c.-93414T>C" "r.(?)" "p.(=)" "" "0000251242" "00018519" "10" "-104131" "0" "-104131" "0" "c.-104131del" "r.(?)" "p.(=)" "" "0000251243" "00018519" "10" "-108418" "0" "-108418" "0" "c.-108418T>C" "r.(?)" "p.(=)" "" "0000251244" "00018519" "10" "-109882" "0" "-109882" "0" "c.-109882T>C" "r.(?)" "p.(=)" "" "0000251245" "00018519" "10" "-123188" "0" "-123188" "0" "c.-123188T>C" "r.(?)" "p.(=)" "" "0000251246" "00018519" "10" "-123216" "0" "-123216" "0" "c.-123216T>C" "r.(?)" "p.(=)" "" "0000251247" "00018519" "10" "-139001" "0" "-139001" "0" "c.-139001T>C" "r.(?)" "p.(=)" "" "0000251248" "00018519" "10" "-161496" "0" "-161496" "0" "c.-161496T>C" "r.(?)" "p.(=)" "" "0000251249" "00018519" "10" "-166496" "0" "-166496" "0" "c.-166496T>G" "r.(?)" "p.(=)" "" "0000251250" "00018519" "10" "-166496" "0" "-166496" "0" "c.-166496T>C" "r.(?)" "p.(=)" "" "0000251251" "00018519" "10" "-166809" "0" "-166809" "0" "c.-166809del" "r.(?)" "p.(=)" "" "0000251252" "00018519" "10" "-178972" "0" "-178972" "0" "c.-178972T>G" "r.(?)" "p.(=)" "" "0000252033" "00018519" "30" "-93398" "0" "-93398" "0" "c.-93398T>C" "r.(?)" "p.(=)" "" "0000252034" "00018519" "30" "-110227" "0" "-110227" "0" "c.-110227T>G" "r.(?)" "p.(=)" "" "0000252035" "00018519" "30" "-123239" "0" "-123239" "0" "c.-123239T>C" "r.(?)" "p.(=)" "" "0000252036" "00018519" "30" "-123242" "0" "-123242" "0" "c.-123242T>G" "r.(?)" "p.(=)" "" "0000252037" "00018519" "30" "-123417" "0" "-123417" "0" "c.-123417T>C" "r.(?)" "p.(=)" "" "0000252038" "00018519" "30" "-127697" "0" "-127697" "0" "c.-127697T>A" "r.(?)" "p.(=)" "" "0000252039" "00018519" "30" "-150581" "0" "-150581" "0" "c.-150581T>C" "r.(?)" "p.(=)" "" "0000252040" "00018519" "30" "-161768" "0" "-161768" "0" "c.-161768T>G" "r.(?)" "p.(=)" "" "0000252041" "00018519" "30" "-183123" "0" "-183123" "0" "c.-183123T>A" "r.(?)" "p.(=)" "" "0000252042" "00018519" "30" "-183157" "0" "-183157" "0" "c.-183157T>C" "r.(?)" "p.(=)" "" "0000252043" "00018519" "30" "-183489" "0" "-183489" "0" "c.-183489T>C" "r.(?)" "p.(=)" "" "0000252531" "00018519" "90" "-141139" "0" "-141139" "0" "c.-141139T>C" "r.(?)" "p.(=)" "" "0000252645" "00018519" "50" "-166601" "0" "-166601" "0" "c.-166601T>C" "r.(?)" "p.(=)" "" "0000252697" "00018519" "50" "-112106" "0" "-112106" "0" "c.-112106T>C" "r.(?)" "p.(=)" "" "0000252777" "00018519" "50" "-166584" "0" "-166584" "0" "c.-166584T>C" "r.(?)" "p.(=)" "" "0000252800" "00018519" "50" "-107026" "0" "-107026" "0" "c.-107026T>A" "r.(?)" "p.(=)" "" "0000252801" "00018519" "50" "-123212" "0" "-123212" "0" "c.-123212T>C" "r.(?)" "p.(=)" "" "0000252802" "00018519" "50" "-184995" "0" "-184995" "0" "c.-184995T>C" "r.(?)" "p.(=)" "" "0000253993" "00018519" "30" "-123294" "0" "-123294" "0" "c.-123294T>C" "r.(?)" "p.(=)" "" "0000254950" "00018519" "30" "-111928" "0" "-111928" "0" "c.-111928T>C" "r.(?)" "p.(=)" "" "0000255544" "00018519" "90" "-183261" "0" "-183261" "0" "c.-183261T>C" "r.(?)" "p.(=)" "" "0000256275" "00018519" "50" "2549" "0" "2549" "0" "c.2549T>C" "r.(?)" "p.(Leu850Pro)" "" "0000297933" "00018519" "10" "-110042" "0" "-110042" "0" "c.-110042A>G" "r.(?)" "p.(=)" "" "0000297934" "00018519" "50" "-111911" "0" "-111911" "0" "c.-111911C>A" "r.(?)" "p.(=)" "" "0000297935" "00018519" "10" "-119565" "0" "-119565" "0" "c.-119565G>A" "r.(?)" "p.(=)" "" "0000297936" "00018519" "30" "-119694" "0" "-119694" "0" "c.-119694A>G" "r.(?)" "p.(=)" "" "0000297937" "00018519" "90" "-163797" "0" "-163797" "0" "c.-163797C>G" "r.(?)" "p.(=)" "" "0000297938" "00018519" "30" "-169754" "0" "-169754" "0" "c.-169754G>A" "r.(?)" "p.(=)" "" "0000297939" "00018519" "70" "-171110" "0" "-171110" "0" "c.-171110C>T" "r.(?)" "p.(=)" "" "0000297940" "00018519" "50" "-185120" "0" "-185120" "0" "c.-185120A>G" "r.(?)" "p.(=)" "" "0000297941" "00018519" "10" "-185557" "0" "-185557" "0" "c.-185557G>A" "r.(?)" "p.(=)" "" "0000297942" "00018519" "10" "-186150" "0" "-186150" "0" "c.-186150G>A" "r.(?)" "p.(=)" "" "0000299353" "00018519" "50" "-110104" "0" "-110104" "0" "c.-110104G>A" "r.(?)" "p.(=)" "" "0000299354" "00018519" "90" "-174076" "0" "-174076" "0" "c.-174076del" "r.(?)" "p.(=)" "" "0000301806" "00018519" "30" "-92348" "0" "-92348" "0" "c.-92348C>T" "r.(?)" "p.(=)" "" "0000301807" "00018519" "10" "-110026" "0" "-110026" "0" "c.-110026A>C" "r.(?)" "p.(=)" "" "0000301808" "00018519" "50" "-110019" "0" "-110019" "0" "c.-110019G>C" "r.(?)" "p.(=)" "" "0000301809" "00018519" "10" "-110042" "0" "-110042" "0" "c.-110042A>G" "r.(?)" "p.(=)" "" "0000301810" "00018519" "30" "-109990" "0" "-109990" "0" "c.-109990G>T" "r.(?)" "p.(=)" "" "0000301811" "00018519" "30" "-110419" "0" "-110419" "0" "c.-110419C>T" "r.(?)" "p.(=)" "" "0000301812" "00018519" "10" "-119565" "0" "-119565" "0" "c.-119565G>A" "r.(?)" "p.(=)" "" "0000301813" "00018519" "10" "-119694" "0" "-119694" "0" "c.-119694A>G" "r.(?)" "p.(=)" "" "0000301814" "00018519" "30" "-119987" "0" "-119987" "0" "c.-119987del" "r.(?)" "p.(=)" "" "0000301815" "00018519" "30" "-119931" "0" "-119931" "0" "c.-119931C>A" "r.(?)" "p.(=)" "" "0000301816" "00018519" "90" "-123359" "0" "-123359" "0" "c.-123359G>C" "r.(?)" "p.(=)" "" "0000301817" "00018519" "10" "-123582" "0" "-123581" "0" "c.-123582_-123581del" "r.(?)" "p.(=)" "" "0000301818" "00018519" "30" "-127688" "0" "-127688" "0" "c.-127688A>G" "r.(?)" "p.(=)" "" "0000301819" "00018519" "10" "-127858" "0" "-127858" "0" "c.-127858A>G" "r.(?)" "p.(=)" "" "0000301820" "00018519" "70" "-127923" "0" "-127923" "0" "c.-127923G>A" "r.(?)" "p.(=)" "" "0000301821" "00018519" "30" "-128083" "0" "-128083" "0" "c.-128083G>A" "r.(?)" "p.(=)" "" "0000301822" "00018519" "10" "-140975" "0" "-140975" "0" "c.-140975A>G" "r.(?)" "p.(=)" "" "0000301823" "00018519" "10" "-92566" "0" "-92566" "0" "c.-92566C>T" "r.(?)" "p.(=)" "" "0000301824" "00018519" "30" "-150524" "0" "-150524" "0" "c.-150524A>T" "r.(?)" "p.(=)" "" "0000301825" "00018519" "90" "-150704" "0" "-150704" "0" "c.-150704G>T" "r.(?)" "p.(=)" "" "0000301826" "00018519" "30" "-151069" "0" "-151069" "0" "c.-151069G>A" "r.(?)" "p.(=)" "" "0000301827" "00018519" "10" "-151200" "0" "-151200" "0" "c.-151200C>T" "r.(?)" "p.(=)" "" "0000301828" "00018519" "30" "-151174" "0" "-151174" "0" "c.-151174G>A" "r.(?)" "p.(=)" "" "0000301829" "00018519" "30" "-161485" "0" "-161485" "0" "c.-161485del" "r.(?)" "p.(=)" "" "0000301830" "00018519" "30" "-161486" "0" "-161485" "0" "c.-161486_-161485del" "r.(?)" "p.(=)" "" "0000301831" "00018519" "30" "-161485" "0" "-161485" "0" "c.-161485dup" "r.(?)" "p.(=)" "" "0000301833" "00018519" "30" "-161621" "0" "-161621" "0" "c.-161621G>A" "r.(?)" "p.(=)" "" "0000301834" "00018519" "50" "-161685" "0" "-161685" "0" "c.-161685C>T" "r.(?)" "p.(=)" "" "0000301835" "00018519" "10" "-161802" "0" "-161799" "0" "c.-161802_-161799del" "r.(?)" "p.(=)" "" "0000301837" "00018519" "30" "-161866" "0" "-161865" "0" "c.-161866_-161865dup" "r.(?)" "p.(=)" "" "0000301838" "00018519" "30" "-163920" "0" "-163920" "0" "c.-163920G>A" "r.(?)" "p.(=)" "" "0000301839" "00018519" "50" "-166537" "0" "-166537" "0" "c.-166537A>T" "r.(?)" "p.(=)" "" "0000301840" "00018519" "30" "-166469" "0" "-166469" "0" "c.-166469A>G" "r.(?)" "p.(=)" "" "0000301841" "00018519" "10" "-93577" "0" "-93577" "0" "c.-93577G>A" "r.(?)" "p.(=)" "" "0000301842" "00018519" "50" "-93606" "0" "-93606" "0" "c.-93606G>C" "r.(?)" "p.(=)" "" "0000301843" "00018519" "10" "-104263" "0" "-104263" "0" "c.-104263C>T" "r.(?)" "p.(=)" "" "0000301844" "00018519" "30" "-104234" "0" "-104234" "0" "c.-104234A>C" "r.(?)" "p.(=)" "" "0000301845" "00018519" "30" "-104174" "0" "-104174" "0" "c.-104174C>A" "r.(?)" "p.(=)" "" "0000301846" "00018519" "90" "-169756" "0" "-169756" "0" "c.-169756C>T" "r.(?)" "p.(=)" "" "0000301847" "00018519" "30" "-169827" "0" "-169827" "0" "c.-169827G>A" "r.(?)" "p.(=)" "" "0000301848" "00018519" "30" "-171018" "0" "-171018" "0" "c.-171018A>T" "r.(?)" "p.(=)" "" "0000301849" "00018519" "50" "-171405" "0" "-171405" "0" "c.-171405A>G" "r.(?)" "p.(=)" "" "0000301850" "00018519" "30" "-173930" "0" "-173930" "0" "c.-173930A>G" "r.(?)" "p.(=)" "" "0000301851" "00018519" "90" "-174070" "0" "-174070" "0" "c.-174070G>A" "r.(?)" "p.(=)" "" "0000301852" "00018519" "30" "-176900" "0" "-176900" "0" "c.-176900C>T" "r.(?)" "p.(=)" "" "0000301853" "00018519" "10" "-178860" "0" "-178860" "0" "c.-178860A>G" "r.(?)" "p.(=)" "" "0000301854" "00018519" "30" "-177780" "0" "-177780" "0" "c.-177780A>C" "r.(?)" "p.(=)" "" "0000301855" "00018519" "10" "-177683" "0" "-177683" "0" "c.-177683C>T" "r.(?)" "p.(=)" "" "0000301856" "00018519" "30" "-183039" "0" "-183039" "0" "c.-183039C>T" "r.(?)" "p.(=)" "" "0000301857" "00018519" "10" "-183028" "0" "-183028" "0" "c.-183028del" "r.(?)" "p.(=)" "" "0000301858" "00018519" "10" "-183131" "0" "-183131" "0" "c.-183131A>T" "r.(?)" "p.(=)" "" "0000301859" "00018519" "10" "-183130" "0" "-183130" "0" "c.-183130A>T" "r.(?)" "p.(=)" "" "0000301860" "00018519" "10" "-183073" "0" "-183073" "0" "c.-183073A>T" "r.(?)" "p.(=)" "" "0000301861" "00018519" "10" "-183335" "0" "-183335" "0" "c.-183335A>T" "r.(?)" "p.(=)" "" "0000301862" "00018519" "50" "-185030" "0" "-185030" "0" "c.-185030A>C" "r.(?)" "p.(=)" "" "0000301863" "00018519" "10" "-185145" "0" "-185145" "0" "c.-185145A>T" "r.(?)" "p.(=)" "" "0000301864" "00018519" "70" "-185413" "0" "-185413" "0" "c.-185413G>A" "r.(?)" "p.(=)" "" "0000301865" "00018519" "70" "-185549" "0" "-185549" "0" "c.-185549G>A" "r.(?)" "p.(=)" "" "0000301866" "00018519" "30" "-185557" "0" "-185557" "0" "c.-185557G>A" "r.(?)" "p.(=)" "" "0000301867" "00018519" "30" "-185628" "0" "-185628" "0" "c.-185628A>G" "r.(?)" "p.(=)" "" "0000301868" "00018519" "50" "-185702" "0" "-185702" "0" "c.-185702G>T" "r.(?)" "p.(=)" "" "0000301869" "00018519" "90" "-105176" "0" "-105176" "0" "c.-105176G>A" "r.(?)" "p.(=)" "" "0000301870" "00018519" "50" "-185878" "0" "-185878" "0" "c.-185878A>T" "r.(?)" "p.(=)" "" "0000301871" "00018519" "10" "-92304" "0" "-92304" "0" "c.-92304C>T" "r.(?)" "p.(=)" "" "0000301872" "00018519" "30" "-185988" "0" "-185988" "0" "c.-185988G>A" "r.(?)" "p.(=)" "" "0000301873" "00018519" "10" "-186141" "0" "-186141" "0" "c.-186141C>T" "r.(?)" "p.(=)" "" "0000301874" "00018519" "30" "-186150" "0" "-186150" "0" "c.-186150G>A" "r.(?)" "p.(=)" "" "0000301875" "00018519" "90" "-105220" "0" "-105220" "0" "c.-105220C>T" "r.(?)" "p.(=)" "" "0000301876" "00018519" "30" "-105276" "0" "-105276" "0" "c.-105276A>T" "r.(?)" "p.(=)" "" "0000301877" "00018519" "70" "-105794" "0" "-105794" "0" "c.-105794A>G" "r.(?)" "p.(=)" "" "0000301878" "00018519" "30" "-105992" "0" "-105992" "0" "c.-105992C>T" "r.(?)" "p.(=)" "" "0000301879" "00018519" "30" "-105932" "0" "-105932" "0" "c.-105932C>T" "r.(?)" "p.(=)" "" "0000301880" "00018519" "90" "-106831" "0" "-106831" "0" "c.-106831C>T" "r.(?)" "p.(=)" "" "0000301881" "00018519" "90" "-106838" "0" "-106838" "0" "c.-106838G>A" "r.(?)" "p.(=)" "" "0000301882" "00018519" "90" "-106873" "0" "-106873" "0" "c.-106873G>A" "r.(?)" "p.(=)" "" "0000307742" "00018519" "50" "-112124" "0" "-112124" "0" "c.-112124G>A" "r.(?)" "p.(=)" "" "0000307743" "00018519" "50" "-112135" "0" "-112135" "0" "c.-112135C>T" "r.(?)" "p.(=)" "" "0000307744" "00018519" "90" "-138868" "0" "-138868" "0" "c.-138868del" "r.(?)" "p.(=)" "" "0000307745" "00018519" "90" "-138875" "0" "-138871" "0" "c.-138875_-138871del" "r.(?)" "p.(=)" "" "0000307746" "00018519" "30" "-163715" "0" "-163715" "0" "c.-163715C>T" "r.(?)" "p.(=)" "" "0000307747" "00018519" "30" "-171271" "0" "-171271" "0" "c.-171271G>A" "r.(?)" "p.(=)" "" "0000307748" "00018519" "30" "-186141" "0" "-186141" "0" "c.-186141C>T" "r.(?)" "p.(=)" "" "0000327414" "00018519" "30" "-92330" "0" "-92330" "0" "c.-92330G>A" "r.(?)" "p.(=)" "" "0000327416" "00018519" "50" "-92363" "0" "-92363" "0" "c.-92363G>A" "r.(?)" "p.(=)" "" "0000327417" "00018519" "50" "-110349" "0" "-110349" "0" "c.-110349G>A" "r.(?)" "p.(=)" "" "0000327419" "00018519" "50" "-138890" "0" "-138890" "0" "c.-138890C>T" "r.(?)" "p.(=)" "" "0000327421" "00018519" "30" "-141140" "0" "-141140" "0" "c.-141140T>C" "r.(?)" "p.(=)" "" "0000327422" "00018519" "50" "-171358" "0" "-171358" "0" "c.-171358G>T" "r.(?)" "p.(=)" "" "0000327423" "00018519" "50" "-177614" "0" "-177614" "0" "c.-177614G>A" "r.(?)" "p.(=)" "" "0000341314" "00018519" "90" "-106838" "0" "-106838" "0" "c.-106838G>A" "r.(?)" "p.(=)" "" "0000341849" "00018519" "50" "-169755" "0" "-169755" "0" "c.-169755G>A" "r.(?)" "p.(=)" "" "0000342034" "00018519" "90" "-185135" "0" "-185135" "0" "c.-185135C>T" "r.(?)" "p.(=)" "" "0000342545" "00018519" "10" "-92330" "0" "-92330" "0" "c.-92330G>A" "r.(?)" "p.(=)" "" "0000343167" "00018519" "90" "-119728" "0" "-119728" "0" "c.-119728G>A" "r.(?)" "p.(=)" "" "0000343868" "00018519" "50" "-150806" "0" "-150806" "0" "c.-150806C>T" "r.(?)" "p.(=)" "" "0000344570" "00018519" "90" "-183180" "0" "-183180" "0" "c.-183180G>A" "r.(?)" "p.(=)" "" "0000345083" "00018519" "90" "-163752" "0" "-163752" "0" "c.-163752C>T" "r.(?)" "p.(=)" "" "0000346587" "00018519" "70" "-183229" "0" "-183229" "0" "c.-183229A>C" "r.(?)" "p.(=)" "" "0000346818" "00018519" "90" "2624" "0" "2624" "0" "c.2624T>C" "r.(?)" "p.(Ile875Thr)" "" "0000346927" "00018519" "90" "-185072" "0" "-185072" "0" "c.-185072A>C" "r.(?)" "p.(=)" "" "0000347986" "00018519" "50" "-105639" "0" "-105639" "0" "c.-105639A>T" "r.(?)" "p.(=)" "" "0000348730" "00018519" "50" "-177588" "0" "-177588" "0" "c.-177588G>A" "r.(?)" "p.(=)" "" "0000348914" "00018519" "50" "-106931" "0" "-106931" "0" "c.-106931G>A" "r.(?)" "p.(=)" "" "0000349691" "00018519" "90" "-171330" "0" "-171330" "0" "c.-171330C>T" "r.(?)" "p.(=)" "" "0000350091" "00018519" "90" "-110433" "0" "-110433" "0" "c.-110433T>C" "r.(?)" "p.(=)" "" "0000350276" "00018519" "50" "-171110" "0" "-171110" "0" "c.-171110C>T" "r.(?)" "p.(=)" "" "0000350964" "00018519" "70" "-108447" "0" "-108447" "0" "c.-108447A>C" "r.(?)" "p.(=)" "" "0000404724" "00018519" "70" "2624" "0" "2624" "0" "c.2624T>C" "r.(?)" "p.(Ile875Thr)" "17" "0000436535" "00018519" "90" "2624" "0" "2624" "0" "c.2624T>C" "r.(?)" "p.(Ile875Thr)" "" "0000436544" "00018519" "90" "2624" "0" "2624" "0" "c.2624T>C" "r.(?)" "p.(Ile875Thr)" "" "0000509801" "00018519" "50" "5989" "0" "5989" "0" "c.5989del" "r.(?)" "p.(Glu1997LysfsTer38)" "" "0000509803" "00018519" "50" "5689" "0" "5689" "0" "c.5689C>T" "r.(?)" "p.(Arg1897Cys)" "" "0000509804" "00018519" "50" "5504" "0" "5504" "0" "c.5504T>C" "r.(?)" "p.(Ile1835Thr)" "" "0000509805" "00018519" "30" "5469" "0" "5469" "0" "c.5469T>A" "r.(?)" "p.(Pro1823=)" "" "0000509806" "00018519" "30" "2118" "0" "2118" "0" "c.2118G>A" "r.(?)" "p.(Val706=)" "" "0000509807" "00018519" "50" "481" "0" "481" "0" "c.481T>C" "r.(?)" "p.(Phe161Leu)" "" "0000509809" "00018519" "50" "82" "0" "82" "0" "c.82C>T" "r.(?)" "p.(Arg28Cys)" "" "0000509810" "00018519" "50" "32" "0" "32" "0" "c.32C>A" "r.(?)" "p.(Pro11His)" "" "0000509811" "00018519" "50" "-92330" "0" "-92330" "0" "c.-92330G>A" "r.(?)" "p.(=)" "" "0000509812" "00018519" "50" "-92330" "0" "-92330" "0" "c.-92330G>A" "r.(?)" "p.(=)" "" "0000509813" "00018519" "30" "-92330" "0" "-92330" "0" "c.-92330G>A" "r.(?)" "p.(=)" "" "0000509814" "00018519" "30" "-93390" "0" "-93390" "0" "c.-93390A>G" "r.(?)" "p.(=)" "" "0000509815" "00018519" "30" "-93444" "0" "-93444" "0" "c.-93444C>T" "r.(?)" "p.(=)" "" "0000509816" "00018519" "90" "-93478" "0" "-93478" "0" "c.-93478G>A" "r.(?)" "p.(=)" "" "0000509817" "00018519" "50" "-104241" "0" "-104241" "0" "c.-104241T>C" "r.(?)" "p.(=)" "" "0000509818" "00018519" "30" "-104300" "0" "-104300" "0" "c.-104300C>T" "r.(?)" "p.(=)" "" "0000509819" "00018519" "70" "-104301" "0" "-104301" "0" "c.-104301T>C" "r.(?)" "p.(=)" "" "0000509820" "00018519" "50" "-105102" "0" "-105102" "0" "c.-105102G>C" "r.(?)" "p.(=)" "" "0000509821" "00018519" "90" "-105794" "0" "-105794" "0" "c.-105794A>C" "r.(?)" "p.(=)" "" "0000509822" "00018519" "10" "-105971" "0" "-105971" "0" "c.-105971A>G" "r.(?)" "p.(=)" "" "0000509823" "00018519" "90" "-106831" "0" "-106831" "0" "c.-106831C>T" "r.(?)" "p.(=)" "" "0000509825" "00018519" "70" "-110104" "0" "-110104" "0" "c.-110104G>A" "r.(?)" "p.(=)" "" "0000509826" "00018519" "70" "-110334" "0" "-110334" "0" "c.-110334C>T" "r.(?)" "p.(=)" "" "0000509827" "00018519" "50" "-111911" "0" "-111911" "0" "c.-111911C>A" "r.(?)" "p.(=)" "" "0000509828" "00018519" "50" "-112002" "0" "-112002" "0" "c.-112002C>T" "r.(?)" "p.(=)" "" "0000509829" "00018519" "30" "-119751" "0" "-119751" "0" "c.-119751C>A" "r.(?)" "p.(=)" "" "0000509830" "00018519" "30" "-119868" "0" "-119868" "0" "c.-119868C>T" "r.(?)" "p.(=)" "" "0000509831" "00018519" "30" "-123242" "0" "-123242" "0" "c.-123242T>A" "r.(?)" "p.(=)" "" "0000509832" "00018519" "30" "-123303" "0" "-123303" "0" "c.-123303T>C" "r.(?)" "p.(=)" "" "0000509833" "00018519" "30" "-123310" "0" "-123310" "0" "c.-123310G>A" "r.(?)" "p.(=)" "" "0000509834" "00018519" "30" "-123581" "0" "-123581" "0" "c.-123581del" "r.(?)" "p.(=)" "" "0000509835" "00018519" "30" "-127810" "0" "-127810" "0" "c.-127810C>T" "r.(?)" "p.(=)" "" "0000509836" "00018519" "30" "-138673" "0" "-138673" "0" "c.-138673C>T" "r.(?)" "p.(=)" "" "0000509837" "00018519" "70" "-138880" "0" "-138880" "0" "c.-138880G>A" "r.(?)" "p.(=)" "" "0000509838" "00018519" "90" "-141059" "0" "-141059" "0" "c.-141059A>G" "r.(?)" "p.(=)" "" "0000509839" "00018519" "70" "-141059" "0" "-141059" "0" "c.-141059A>G" "r.(?)" "p.(=)" "" "0000509840" "00018519" "10" "-141140" "0" "-141140" "0" "c.-141140T>C" "r.(?)" "p.(=)" "" "0000509842" "00018519" "30" "-150820" "0" "-150820" "0" "c.-150820C>T" "r.(?)" "p.(=)" "" "0000509843" "00018519" "30" "-150907" "0" "-150907" "0" "c.-150907G>A" "r.(?)" "p.(=)" "" "0000509844" "00018519" "30" "-161621" "0" "-161621" "0" "c.-161621G>A" "r.(?)" "p.(=)" "" "0000509845" "00018519" "10" "-161865" "0" "-161865" "0" "c.-161865dup" "r.(?)" "p.(=)" "" "0000509847" "00018519" "30" "-163700" "0" "-163700" "0" "c.-163700G>T" "r.(?)" "p.(=)" "" "0000509849" "00018519" "10" "-163815" "0" "-163815" "0" "c.-163815T>C" "r.(?)" "p.(=)" "" "0000509851" "00018519" "30" "-166742" "0" "-166742" "0" "c.-166742A>G" "r.(?)" "p.(=)" "" "0000509852" "00018519" "90" "-169756" "0" "-169756" "0" "c.-169756C>A" "r.(?)" "p.(=)" "" "0000509854" "00018519" "50" "-171175" "0" "-171175" "0" "c.-171175G>C" "r.(?)" "p.(=)" "" "0000509855" "00018519" "50" "-171283" "0" "-171283" "0" "c.-171283G>C" "r.(?)" "p.(=)" "" "0000509856" "00018519" "10" "-173991" "0" "-173991" "0" "c.-173991T>C" "r.(?)" "p.(=)" "" "0000509857" "00018519" "30" "-173991" "0" "-173991" "0" "c.-173991del" "r.(?)" "p.(=)" "" "0000509859" "00018519" "30" "-177610" "0" "-177610" "0" "c.-177610T>A" "r.(?)" "p.(=)" "" "0000509860" "00018519" "30" "-178872" "0" "-178872" "0" "c.-178872C>T" "r.(?)" "p.(=)" "" "0000509861" "00018519" "30" "-183082" "0" "-183082" "0" "c.-183082G>A" "r.(?)" "p.(=)" "" "0000509863" "00018519" "30" "-185699" "0" "-185699" "0" "c.-185699T>G" "r.(?)" "p.(=)" "" "0000509864" "00018519" "90" "-185875" "0" "-185875" "0" "c.-185875G>C" "r.(?)" "p.(=)" "" "0000509865" "00018519" "10" "-186150" "0" "-186150" "0" "c.-186150G>A" "r.(?)" "p.(=)" "" "0000509866" "00018519" "30" "-186186" "0" "-186186" "0" "c.-186186T>C" "r.(?)" "p.(=)" "" "0000606187" "00018519" "30" "5658" "0" "5658" "0" "c.5658C>T" "r.(?)" "p.(Val1886=)" "" "0000606188" "00018519" "50" "5528" "0" "5528" "0" "c.5528G>C" "r.(?)" "p.(Ser1843Thr)" "" "0000606189" "00018519" "30" "5394" "0" "5394" "0" "c.5394A>G" "r.(?)" "p.(Glu1798=)" "" "0000606190" "00018519" "50" "5264" "0" "5264" "0" "c.5264T>C" "r.(?)" "p.(Ile1755Thr)" "" "0000606191" "00018519" "10" "4807" "7" "4807" "7" "c.4807+7A>G" "r.(=)" "p.(=)" "" "0000606192" "00018519" "50" "4761" "0" "4761" "0" "c.4761A>G" "r.(?)" "p.(Ile1587Met)" "" "0000606193" "00018519" "30" "4680" "0" "4680" "0" "c.4680G>T" "r.(?)" "p.(Arg1560=)" "" "0000606194" "00018519" "30" "4389" "0" "4389" "0" "c.4389C>T" "r.(?)" "p.(Phe1463=)" "" "0000606195" "00018519" "30" "3672" "0" "3672" "0" "c.3672C>T" "r.(?)" "p.(Ala1224=)" "" "0000606196" "00018519" "50" "3589" "0" "3589" "0" "c.3589A>G" "r.(?)" "p.(Lys1197Glu)" "" "0000606197" "00018519" "10" "3250" "0" "3250" "0" "c.3250G>A" "r.(?)" "p.(Val1084Ile)" "" "0000606198" "00018519" "30" "3231" "0" "3231" "0" "c.3231A>C" "r.(?)" "p.(Gly1077=)" "" "0000606199" "00018519" "30" "3110" "0" "3110" "0" "c.3110T>C" "r.(?)" "p.(Ile1037Thr)" "" "0000606200" "00018519" "50" "1945" "0" "1945" "0" "c.1945G>T" "r.(?)" "p.(Asp649Tyr)" "" "0000606201" "00018519" "50" "1840" "0" "1840" "0" "c.1840C>T" "r.(?)" "p.(Pro614Ser)" "" "0000606202" "00018519" "30" "1750" "0" "1750" "0" "c.1750G>T" "r.(?)" "p.(Ala584Ser)" "" "0000606203" "00018519" "30" "1619" "0" "1619" "0" "c.1619C>T" "r.(?)" "p.(Ser540Phe)" "" "0000606204" "00018519" "30" "1400" "0" "1400" "0" "c.1400C>T" "r.(?)" "p.(Ala467Val)" "" "0000606205" "00018519" "50" "551" "0" "551" "0" "c.551C>T" "r.(?)" "p.(Thr184Met)" "" "0000606206" "00018519" "30" "429" "0" "429" "0" "c.429A>T" "r.(?)" "p.(Val143=)" "" "0000606207" "00018519" "10" "171" "0" "171" "0" "c.171T>C" "r.(?)" "p.(Ala57=)" "" "0000606208" "00018519" "50" "-110360" "0" "-110360" "0" "c.-110360A>G" "r.(?)" "p.(=)" "" "0000606209" "00018519" "70" "-119656" "0" "-119656" "0" "c.-119656G>A" "r.(?)" "p.(=)" "" "0000606210" "00018519" "90" "-185107" "0" "-185107" "0" "c.-185107G>A" "r.(?)" "p.(=)" "" "0000606211" "00018519" "90" "-185548" "0" "-185548" "0" "c.-185548C>T" "r.(?)" "p.(=)" "" "0000606212" "00018519" "50" "-185936" "0" "-185936" "0" "c.-185936C>T" "r.(?)" "p.(=)" "" "0000620760" "00018519" "50" "5302" "0" "5302" "0" "c.5302G>A" "r.(?)" "p.(Ala1768Thr)" "" "0000650163" "00018519" "10" "5584" "0" "5584" "0" "c.5584G>T" "r.(?)" "p.(Gly1862Cys)" "" "0000650164" "00018519" "30" "1619" "0" "1619" "0" "c.1619C>T" "r.(?)" "p.(Ser540Phe)" "" "0000654237" "00018519" "50" "5028" "0" "5028" "0" "c.5028C>A" "r.(?)" "p.(Asn1676Lys)" "" "0000654238" "00018519" "30" "2316" "0" "2316" "0" "c.2316A>G" "r.(?)" "p.(Leu772=)" "" "0000654239" "00018519" "50" "1031" "5" "1031" "5" "c.1031+5G>A" "r.spl?" "p.?" "" "0000654240" "00018519" "70" "-108448" "0" "-108448" "0" "c.-108448T>C" "r.(?)" "p.(=)" "" "0000654241" "00018519" "30" "-111928" "0" "-111928" "0" "c.-111928T>C" "r.(?)" "p.(=)" "" "0000654242" "00018519" "50" "-185126" "0" "-185126" "0" "c.-185126C>T" "r.(?)" "p.(=)" "" "0000665812" "00018519" "50" "295" "0" "295" "0" "c.295A>G" "r.(?)" "p.(Ile99Val)" "" "0000667189" "00018519" "50" "2438" "0" "2438" "0" "c.2438C>T" "r.(?)" "p.(Ala813Val)" "" "0000667578" "00018519" "90" "1318" "0" "1318" "0" "c.1318C>T" "r.(?)" "p.(Gln440*)" "" "0000676068" "00018519" "30" "5889" "0" "5889" "0" "c.5889T>C" "r.(?)" "p.(Ser1963=)" "" "0000676069" "00018519" "50" "4175" "0" "4175" "0" "c.4175G>A" "r.(?)" "p.(Arg1392Gln)" "" "0000676070" "00018519" "30" "3449" "0" "3449" "0" "c.3449G>A" "r.(?)" "p.(Arg1150Gln)" "" "0000676071" "00018519" "30" "2153" "-10" "2153" "-10" "c.2153-10G>T" "r.(=)" "p.(=)" "" "0000676072" "00018519" "30" "-104318" "0" "-104318" "0" "c.-104318T>C" "r.(?)" "p.(=)" "" "0000676073" "00018519" "70" "-183228" "0" "-183228" "0" "c.-183228T>G" "r.(?)" "p.(=)" "" "0000688364" "00018519" "30" "5220" "0" "5220" "0" "c.5220C>T" "r.(?)" "p.(Asp1740=)" "" "0000688365" "00018519" "30" "2602" "0" "2602" "0" "c.2602C>T" "r.(?)" "p.(Leu868=)" "" "0000688366" "00018519" "30" "1619" "0" "1619" "0" "c.1619C>T" "r.(?)" "p.(Ser540Phe)" "" "0000688367" "00018519" "30" "1104" "0" "1104" "0" "c.1104C>A" "r.(?)" "p.(Thr368=)" "" "0000688368" "00018519" "50" "664" "0" "664" "0" "c.664C>T" "r.(?)" "p.(Arg222Ter)" "" "0000688369" "00018519" "90" "-166578" "0" "-166578" "0" "c.-166578G>A" "r.(?)" "p.(=)" "" "0000688370" "00018519" "90" "-183396" "0" "-183396" "0" "c.-183396C>T" "r.(?)" "p.(=)" "" "0000688371" "00018519" "70" "-185867" "0" "-185867" "0" "c.-185867A>G" "r.(?)" "p.(=)" "" "0000717927" "00018519" "30" "5982" "0" "5982" "0" "c.5982G>A" "r.(?)" "p.(Glu1994=)" "" "0000717928" "00018519" "10" "5121" "0" "5121" "0" "c.5121C>A" "r.(?)" "p.(Thr1707=)" "" "0000717929" "00018519" "50" "4610" "0" "4610" "0" "c.4610G>A" "r.(?)" "p.(Cys1537Tyr)" "" "0000717930" "00018519" "50" "791" "0" "791" "0" "c.791T>C" "r.(?)" "p.(Ile264Thr)" "" "0000717931" "00018519" "50" "-106984" "0" "-106984" "0" "c.-106984T>C" "r.(?)" "p.(=)" "" "0000717932" "00018519" "70" "-141181" "0" "-141181" "0" "c.-141181G>A" "r.(?)" "p.(=)" "" "0000717933" "00018519" "70" "-141242" "0" "-141242" "0" "c.-141242T>A" "r.(?)" "p.(=)" "" "0000717934" "00018519" "90" "-174068" "0" "-174068" "0" "c.-174068G>C" "r.(?)" "p.(=)" "" "0000717935" "00018519" "90" "-177144" "0" "-177144" "0" "c.-177144T>G" "r.(?)" "p.(=)" "" "0000717936" "00018519" "30" "-183184" "0" "-183184" "0" "c.-183184C>G" "r.(?)" "p.(=)" "" "0000717937" "00018519" "90" "-183351" "0" "-183351" "0" "c.-183351A>G" "r.(?)" "p.(=)" "" "0000717938" "00018519" "70" "-183385" "0" "-183385" "0" "c.-183385T>C" "r.(?)" "p.(=)" "" "0000717939" "00018519" "70" "-185716" "0" "-185716" "0" "c.-185716G>A" "r.(?)" "p.(=)" "" "0000787439" "00018519" "50" "3494" "0" "3494" "0" "c.3494C>A" "r.(?)" "p.(Pro1165Gln)" "19" "0000787609" "00018519" "50" "1966" "0" "1966" "0" "c.1966T>G" "r.(?)" "p.(Leu656Val)" "13" "0000799752" "00018519" "30" "5952" "0" "5952" "0" "c.5952C>T" "r.(?)" "p.(Asp1984=)" "" "0000799753" "00018519" "50" "3619" "0" "3619" "0" "c.3619T>C" "r.(?)" "p.(Trp1207Arg)" "" "0000799754" "00018519" "50" "2342" "0" "2342" "0" "c.2342A>G" "r.(?)" "p.(His781Arg)" "" "0000799755" "00018519" "30" "1164" "0" "1164" "0" "c.1164T>C" "r.(?)" "p.(Leu388=)" "" "0000799756" "00018519" "50" "-106973" "0" "-106973" "0" "c.-106973T>C" "r.(?)" "p.(=)" "" "0000799757" "00018519" "70" "-110170" "0" "-110170" "0" "c.-110170T>C" "r.(?)" "p.(=)" "" "0000799758" "00018519" "30" "-119931" "0" "-119931" "0" "c.-119931C>A" "r.(?)" "p.(=)" "" "0000799759" "00018519" "30" "-127897" "0" "-127897" "0" "c.-127897G>A" "r.(?)" "p.(=)" "" "0000799760" "00018519" "30" "-150910" "0" "-150910" "0" "c.-150910T>G" "r.(?)" "p.(=)" "" "0000849002" "00018519" "30" "5738" "0" "5738" "0" "c.5738G>A" "r.(?)" "p.(Cys1913Tyr)" "" "0000849003" "00018519" "10" "5658" "0" "5658" "0" "c.5658C>T" "r.(?)" "p.(Val1886=)" "" "0000849004" "00018519" "10" "4476" "0" "4476" "0" "c.4476T>C" "r.(?)" "p.(Tyr1492=)" "" "0000849005" "00018519" "30" "3933" "0" "3933" "0" "c.3933T>C" "r.(?)" "p.(Pro1311=)" "" "0000849006" "00018519" "50" "3095" "0" "3095" "0" "c.3095G>C" "r.(?)" "p.(Arg1032Thr)" "" "0000849007" "00018519" "30" "2640" "0" "2640" "0" "c.2640G>T" "r.(?)" "p.(Gly880=)" "" "0000849008" "00018519" "30" "1381" "-4" "1381" "-4" "c.1381-4A>G" "r.spl?" "p.?" "" "0000849009" "00018519" "30" "1336" "0" "1336" "0" "c.1336C>A" "r.(?)" "p.(Gln446Lys)" "" "0000849010" "00018519" "30" "849" "0" "849" "0" "c.849C>G" "r.(?)" "p.(Ser283Arg)" "" "0000849011" "00018519" "30" "672" "0" "672" "0" "c.672G>A" "r.(?)" "p.(Leu224=)" "" "0000849012" "00018519" "30" "633" "0" "633" "0" "c.633T>C" "r.(?)" "p.(Asn211=)" "" "0000849013" "00018519" "90" "-106831" "0" "-106831" "0" "c.-106831C>T" "r.(?)" "p.(=)" "" "0000849014" "00018519" "50" "-110122" "0" "-110122" "0" "c.-110122C>T" "r.(?)" "p.(=)" "" "0000849015" "00018519" "50" "-163711" "0" "-163711" "0" "c.-163711A>G" "r.(?)" "p.(=)" "" "0000849016" "00018519" "90" "-166578" "0" "-166578" "0" "c.-166578G>A" "r.(?)" "p.(=)" "" "0000857806" "00018519" "30" "5856" "0" "5856" "0" "c.5856C>T" "r.(?)" "p.(Asn1952=)" "" "0000857807" "00018519" "50" "5423" "0" "5423" "0" "c.5423T>C" "r.(?)" "p.(Ile1808Thr)" "" "0000857808" "00018519" "30" "1432" "0" "1432" "0" "c.1432T>C" "r.(?)" "p.(Leu478=)" "" "0000857809" "00018519" "30" "1419" "0" "1419" "0" "c.1419T>C" "r.(?)" "p.(Ser473=)" "" "0000857810" "00018519" "50" "264" "2" "264" "2" "c.264+2T>G" "r.spl?" "p.?" "" "0000857811" "00018519" "70" "-106997" "0" "-106996" "0" "c.-106997_-106996del" "r.(?)" "p.(=)" "" "0000857812" "00018519" "50" "-110089" "0" "-110089" "0" "c.-110089G>A" "r.(?)" "p.(=)" "" "0000857813" "00018519" "50" "-127925" "0" "-127925" "0" "c.-127925G>C" "r.(?)" "p.(=)" "" "0000883826" "00018519" "30" "5940" "0" "5940" "0" "c.5940G>A" "r.(?)" "p.(Lys1980=)" "" "0000883827" "00018519" "50" "5612" "0" "5612" "0" "c.5612G>A" "r.(?)" "p.(Arg1871Gln)" "" "0000883828" "00018519" "30" "5313" "0" "5313" "0" "c.5313G>A" "r.(?)" "p.(Leu1771=)" "" "0000883829" "00018519" "30" "5301" "0" "5301" "0" "c.5301C>T" "r.(?)" "p.(Ile1767=)" "" "0000883831" "00018519" "30" "4212" "0" "4212" "0" "c.4212C>T" "r.(?)" "p.(Gly1404=)" "" "0000883832" "00018519" "50" "4186" "0" "4186" "0" "c.4186G>A" "r.(?)" "p.(Val1396Met)" "" "0000883833" "00018519" "30" "4185" "0" "4185" "0" "c.4185C>T" "r.(?)" "p.(Asn1395=)" "" "0000883834" "00018519" "50" "3836" "0" "3836" "0" "c.3836T>C" "r.(?)" "p.(Ile1279Thr)" "" "0000883835" "00018519" "30" "1523" "0" "1523" "0" "c.1523A>G" "r.(?)" "p.(Gln508Arg)" "" "0000883836" "00018519" "50" "1140" "0" "1140" "0" "c.1140G>A" "r.(?)" "p.(Met380Ile)" "" "0000883838" "00018519" "50" "-92361" "0" "-92361" "0" "c.-92361T>G" "r.(?)" "p.(=)" "" "0000883839" "00018519" "90" "-105220" "0" "-105220" "0" "c.-105220C>T" "r.(?)" "p.(=)" "" "0000883840" "00018519" "70" "-106784" "0" "-106784" "0" "c.-106784A>G" "r.(?)" "p.(=)" "" "0000883841" "00018519" "90" "-110441" "0" "-110441" "0" "c.-110441G>A" "r.(?)" "p.(=)" "" "0000883842" "00018519" "50" "-123306" "0" "-123306" "0" "c.-123306C>A" "r.(?)" "p.(=)" "" "0000883844" "00018519" "90" "-174070" "0" "-174070" "0" "c.-174070G>A" "r.(?)" "p.(=)" "" "0000911218" "00018519" "50" "3625" "0" "3625" "0" "c.3625G>C" "r.(?)" "p.(Glu1209Gln)" "" "0000911219" "00018519" "30" "2760" "0" "2760" "0" "c.2760G>A" "r.(?)" "p.(Thr920=)" "" "0000911220" "00018519" "30" "2304" "0" "2304" "0" "c.2304T>C" "r.(?)" "p.(Ile768=)" "" "0000918621" "00018519" "90" "1579" "0" "1579" "0" "c.1579G>A" "r.(?)" "p.(Glu527Lys)" "" "0000923323" "00018519" "30" "1992" "0" "1992" "0" "c.1992G>A" "r.(?)" "p.(Thr664=)" "" "0000923324" "00018519" "30" "1381" "-4" "1381" "-4" "c.1381-4A>T" "r.spl?" "p.?" "" "0000923325" "00018519" "30" "999" "0" "999" "0" "c.999C>T" "r.(?)" "p.(Asp333=)" "" "0000923326" "00018519" "50" "396" "0" "396" "0" "c.396G>A" "r.(?)" "p.(Met132Ile)" "" "0000923327" "00018519" "70" "-110146" "0" "-110146" "0" "c.-110146C>T" "r.(?)" "p.(=)" "" "0000923328" "00018519" "50" "-169728" "0" "-169728" "0" "c.-169728C>T" "r.(?)" "p.(=)" "" "0000923329" "00018519" "70" "-183250" "0" "-183250" "0" "c.-183250T>C" "r.(?)" "p.(=)" "" "0000928292" "00018519" "50" "5585" "0" "5585" "0" "c.5585G>A" "r.(?)" "p.(Gly1862Asp)" "" "0000928293" "00018519" "50" "5165" "0" "5165" "0" "c.5165C>G" "r.(?)" "p.(Ala1722Gly)" "" "0000928294" "00018519" "50" "4760" "0" "4760" "0" "c.4760T>C" "r.(?)" "p.(Ile1587Thr)" "" "0000928296" "00018519" "90" "-185875" "0" "-185875" "0" "c.-185875G>C" "r.(?)" "p.(=)" "" "0000935933" "00018519" "90" "3576" "0" "3576" "0" "c.3576G>A" "r.(?)" "p.(Trp1192*)" "" "0000935945" "00018519" "50" "1173" "5" "1173" "5" "c.1173+5G>A" "r.spl?" "p.?" "" "0000947377" "00018519" "10" "5859" "0" "5859" "0" "c.5859C>T" "r.(?)" "p.(=)" "" "0000947378" "00018519" "50" "5419" "0" "5419" "0" "c.5419T>G" "r.(?)" "p.(Phe1807Val)" "" "0000947379" "00018519" "10" "4878" "0" "4878" "0" "c.4878C>T" "r.(?)" "p.(=)" "" "0000947380" "00018519" "70" "4862" "0" "4862" "0" "c.4862G>A" "r.(?)" "p.(Arg1621Gln)" "" "0000947381" "00018519" "50" "2863" "0" "2863" "0" "c.2863G>T" "r.(?)" "p.(Ala955Ser)" "" "0000947382" "00018519" "50" "1505" "0" "1505" "0" "c.1505G>A" "r.(?)" "p.(Arg502Gln)" "" "0000947383" "00018519" "30" "68" "0" "68" "0" "c.68C>T" "r.(?)" "p.(Ala23Val)" "" "0000947384" "00018519" "50" "-119681" "0" "-119681" "0" "c.-119681T>A" "r.(?)" "p.(=)" "" "0000947385" "00018519" "50" "-171213" "0" "-171213" "0" "c.-171213A>G" "r.(?)" "p.(=)" "" "0000961386" "00018519" "30" "3495" "0" "3495" "0" "c.3495G>A" "r.(?)" "p.(=)" "" "0000961387" "00018519" "50" "1886" "0" "1886" "0" "c.1886G>A" "r.(?)" "p.(Ser629Asn)" "" "0000961389" "00018519" "30" "68" "0" "68" "0" "c.68C>T" "r.(?)" "p.(Ala23Val)" "" "0000961390" "00018519" "50" "-110161" "0" "-110161" "0" "c.-110161T>C" "r.(?)" "p.(=)" "" "0000961391" "00018519" "90" "-150975" "0" "-150974" "0" "c.-150975_-150974del" "r.(?)" "p.(=)" "" "0000961392" "00018519" "90" "-185548" "0" "-185548" "0" "c.-185548C>T" "r.(?)" "p.(=)" "" "0000974400" "00018519" "50" "5638" "0" "5638" "0" "c.5638G>A" "r.(?)" "p.(Ala1880Thr)" "" "0000974401" "00018519" "30" "5483" "0" "5483" "0" "c.5483A>G" "r.(?)" "p.(Lys1828Arg)" "" "0000974402" "00018519" "50" "5028" "0" "5028" "0" "c.5028C>A" "r.(?)" "p.(Asn1676Lys)" "" "0000974403" "00018519" "50" "2881" "0" "2881" "0" "c.2881C>T" "r.(?)" "p.(Leu961Phe)" "" "0000974404" "00018519" "30" "2391" "3" "2391" "3" "c.2391+3A>G" "r.spl?" "p.?" "" "0000974405" "00018519" "30" "2008" "0" "2008" "0" "c.2008C>T" "r.(?)" "p.(Leu670Phe)" "" "0000974406" "00018519" "30" "-82365" "0" "-82365" "0" "c.-82365C>T" "r.(?)" "p.(=)" "" "0000974407" "00018519" "90" "-105839" "0" "-105839" "0" "c.-105839C>T" "r.(?)" "p.(=)" "" "0000974408" "00018519" "30" "-110419" "0" "-110419" "0" "c.-110419C>T" "r.(?)" "p.(=)" "" "0000974409" "00018519" "30" "-119885" "0" "-119885" "0" "c.-119885C>T" "r.(?)" "p.(=)" "" "0000974410" "00018519" "30" "-123604" "0" "-123604" "0" "c.-123604G>T" "r.(?)" "p.(=)" "" "0000974411" "00018519" "30" "-138721" "0" "-138721" "0" "c.-138721C>T" "r.(?)" "p.(=)" "" "0000991732" "00018519" "30" "5540" "0" "5540" "0" "c.5540T>C" "r.(?)" "p.(Ile1847Thr)" "" "0000991733" "00018519" "30" "5407" "0" "5407" "0" "c.5407G>A" "r.(?)" "p.(Asp1803Asn)" "" "0000991734" "00018519" "50" "4937" "0" "4938" "0" "c.4937_4938del" "r.(?)" "p.(Phe1646Cysfs*11)" "" "0000991735" "00018519" "50" "4729" "0" "4729" "0" "c.4729C>G" "r.(?)" "p.(Leu1577Val)" "" "0000991736" "00018519" "30" "4354" "0" "4354" "0" "c.4354A>G" "r.(?)" "p.(Ile1452Val)" "" "0000991737" "00018519" "30" "4123" "0" "4123" "0" "c.4123A>G" "r.(?)" "p.(Ile1375Val)" "" "0000991738" "00018519" "50" "4114" "0" "4114" "0" "c.4114A>G" "r.(?)" "p.(Met1372Val)" "" "0000991739" "00018519" "30" "2862" "0" "2862" "0" "c.2862C>T" "r.(?)" "p.(=)" "" "0000991740" "00018519" "50" "2780" "0" "2780" "0" "c.2780A>G" "r.(?)" "p.(Asn927Ser)" "" "0000991741" "00018519" "50" "2269" "0" "2269" "0" "c.2269G>T" "r.(?)" "p.(Val757Phe)" "" "0000991742" "00018519" "50" "1970" "0" "1970" "0" "c.1970T>C" "r.(?)" "p.(Val657Ala)" "" "0000991743" "00018519" "50" "1862" "0" "1862" "0" "c.1862G>C" "r.(?)" "p.(Arg621Pro)" "" "0000991744" "00018519" "50" "1393" "0" "1393" "0" "c.1393G>A" "r.(?)" "p.(Ala465Thr)" "" "0000991745" "00018519" "50" "1342" "0" "1342" "0" "c.1342A>G" "r.(?)" "p.(Met448Val)" "" "0000991746" "00018519" "50" "1328" "0" "1328" "0" "c.1328C>T" "r.(?)" "p.(Ala443Val)" "" "0000991747" "00018519" "50" "694" "3" "694" "3" "c.694+3G>T" "r.spl?" "p.?" "" "0000991748" "00018519" "50" "559" "0" "559" "0" "c.559C>T" "r.(?)" "p.(Arg187Cys)" "" "0000991749" "00018519" "50" "396" "0" "396" "0" "c.396G>A" "r.(?)" "p.(Met132Ile)" "" "0000991750" "00018519" "30" "295" "0" "295" "0" "c.295A>G" "r.(?)" "p.(Ile99Val)" "" "0000991751" "00018519" "70" "-110104" "0" "-110104" "0" "c.-110104G>A" "r.(?)" "p.(=)" "" "0000991752" "00018519" "90" "-110157" "0" "-110157" "0" "c.-110157G>C" "r.(?)" "p.(=)" "" "0000991753" "00018519" "50" "-111910" "0" "-111905" "0" "c.-111910_-111905dup" "r.(?)" "p.(=)" "" "0000991754" "00018519" "50" "-119633" "0" "-119633" "0" "c.-119633G>A" "r.(?)" "p.(=)" "" "0000991755" "00018519" "50" "-123306" "0" "-123306" "0" "c.-123306C>A" "r.(?)" "p.(=)" "" "0000991756" "00018519" "70" "-138880" "0" "-138880" "0" "c.-138880G>A" "r.(?)" "p.(=)" "" "0000991757" "00018519" "30" "-161653" "0" "-161653" "0" "c.-161653T>A" "r.(?)" "p.(=)" "" "0000991758" "00018519" "50" "-161674" "0" "-161674" "0" "c.-161674G>C" "r.(?)" "p.(=)" "" "0000991759" "00018519" "30" "-163711" "0" "-163711" "0" "c.-163711A>G" "r.(?)" "p.(=)" "" "0000991760" "00018519" "90" "-166629" "0" "-166629" "0" "c.-166629T>C" "r.(?)" "p.(=)" "" "0000991761" "00018519" "70" "-185098" "0" "-185098" "0" "c.-185098T>G" "r.(?)" "p.(=)" "" "0001013396" "00018519" "50" "5519" "0" "5519" "0" "c.5519C>T" "r.(?)" "p.(Pro1840Leu)" "" "0001013397" "00018519" "30" "2003" "0" "2003" "0" "c.2003G>A" "r.(?)" "p.(Gly668Glu)" "" "0001013398" "00018519" "30" "641" "0" "641" "0" "c.641C>T" "r.(?)" "p.(Ala214Val)" "" "0001024246" "00018519" "50" "295" "0" "295" "0" "c.295A>G" "r.(?)" "p.(Ile99Val)" "" "0001024247" "00018519" "30" "132" "0" "132" "0" "c.132T>G" "r.(?)" "p.(Asp44Glu)" "" "0001024248" "00018519" "30" "-123310" "0" "-123310" "0" "c.-123310G>A" "r.(?)" "p.(=)" "" "0001024249" "00018519" "90" "-127896" "0" "-127896" "0" "c.-127896del" "r.(?)" "p.(=)" "" "0001032459" "00018519" "30" "3589" "0" "3589" "0" "c.3589A>G" "r.(?)" "p.(Lys1197Glu)" "" "0001032460" "00018519" "50" "2661" "0" "2661" "0" "c.2661G>C" "r.(?)" "p.(Leu887Phe)" "" "0001032461" "00018519" "30" "928" "0" "928" "0" "c.928A>T" "r.(?)" "p.(Met310Leu)" "" "0001032462" "00018519" "50" "295" "0" "295" "0" "c.295A>G" "r.(?)" "p.(Ile99Val)" "" "0001032463" "00018519" "50" "43" "0" "43" "0" "c.43C>T" "r.(?)" "p.(Arg15Cys)" "" "0001032464" "00018519" "50" "-92256" "0" "-92256" "0" "c.-92256T>C" "r.(?)" "p.(=)" "" "0001032465" "00018519" "50" "-105140" "0" "-105140" "0" "c.-105140C>A" "r.(?)" "p.(=)" "" "0001032466" "00018519" "50" "-163651" "0" "-163651" "0" "c.-163651C>T" "r.(?)" "p.(=)" "" "0001032467" "00018519" "30" "-182872" "0" "-182872" "0" "c.-182872C>T" "r.(?)" "p.(=)" "" "0001032468" "00018519" "50" "-185409" "0" "-185409" "0" "c.-185409A>C" "r.(?)" "p.(=)" "" "0001032469" "00018519" "90" "-185857" "0" "-185857" "0" "c.-185857G>A" "r.(?)" "p.(=)" "" "0001050848" "00018519" "50" "5067" "0" "5067" "0" "c.5067G>T" "r.(?)" "p.(Met1689Ile)" "" "0001050849" "00018519" "70" "5006" "0" "5006" "0" "c.5006A>G" "r.(?)" "p.(Tyr1669Cys)" "" "0001050850" "00018519" "50" "4589" "0" "4589" "0" "c.4589T>C" "r.(?)" "p.(Ile1530Thr)" "" "0001050851" "00018519" "50" "1732" "0" "1732" "0" "c.1732T>C" "r.(?)" "p.(Phe578Leu)" "" "0001050852" "00018519" "30" "1687" "0" "1687" "0" "c.1687C>T" "r.(?)" "p.(Arg563Cys)" "" "0001050853" "00018519" "50" "1592" "0" "1592" "0" "c.1592G>C" "r.(?)" "p.(Ser531Thr)" "" "0001050854" "00018519" "30" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Asp284Asn)" "" "0001050855" "00018519" "50" "-92409" "0" "-92409" "0" "c.-92409C>T" "r.(?)" "p.(=)" "" "0001050856" "00018519" "50" "-112110" "0" "-112110" "0" "c.-112110C>T" "r.(?)" "p.(=)" "" "0001063552" "00018519" "50" "1671" "3" "1671" "3" "c.1671+3A>G" "r.spl?" "p.?" "" "0001063553" "00018519" "70" "710" "0" "710" "0" "c.710T>A" "r.(?)" "p.(Val237Glu)" "" "0001063554" "00018519" "70" "-110333" "0" "-110333" "0" "c.-110333G>A" "r.(?)" "p.(=)" "" "0001063555" "00018519" "50" "-177045" "0" "-177045" "0" "c.-177045T>C" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000050418" "0000079398" "0000181088" "0000404724" "0000206889" "0000436535" "0000206897" "0000436544" "0000293474" "0000650163" "0000293475" "0000650164" "0000302522" "0000665812" "0000303794" "0000667189" "0000304180" "0000667578" "0000375374" "0000787439" "0000376032" "0000787609" "0000432996" "0000918621" "0000439804" "0000935933" "0000439816" "0000935945"